Mutagenetix > Incidental Mutation

Incidental Mutation 'R9507:Ush2a'

717858

Institutional Source

Beutler Lab

Gene Symbol

Ush2a

Ensembl Gene

ENSMUSG00000026609

Gene Name

usherin

Synonyms

MUSH2A, LOC269160, LOC381317, Ushrn, Ush2a, A930037M10Rik, A930011D15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.521) question?

Stock #

R9507 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

187995035-188697694 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 188596937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 3892 (Y3892*)

Ref Sequence

ENSEMBL: ENSMUSP00000050454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060479]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000060479
AA Change: Y3892*

SMART Domains

Protein: ENSMUSP00000050454
Gene: ENSMUSG00000026609
AA Change: Y3892*

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:Laminin_G_3	128	283	6.5e-16	PFAM
LamNT	310	513	6.79e-9	SMART
EGF_Lam	515	569	1.58e-3	SMART
EGF_Lam	572	635	5.69e-10	SMART
EGF_Lam	638	688	4.38e-11	SMART
EGF_Lam	691	741	3.56e-11	SMART
EGF_Lam	744	789	7.93e-9	SMART
EGF_Lam	792	841	3.37e-12	SMART
EGF_Lam	844	894	2.01e-10	SMART
EGF_Lam	897	945	5.43e-16	SMART
EGF_Lam	948	996	7.88e-4	SMART
EGF_Lam	999	1047	2.96e-8	SMART
FN3	1051	1130	1e-1	SMART
FN3	1145	1224	2.06e-3	SMART
FN3	1239	1342	8.69e-11	SMART
FN3	1356	1447	5.32e-6	SMART
FN3	1461	1570	2.63e1	SMART
LamG	1531	1672	5.39e-19	SMART
LamG	1727	1862	2.33e-23	SMART
FN3	1861	1931	9.15e1	SMART
FN3	1945	2032	2.24e-4	SMART
FN3	2047	2120	1.13e0	SMART
FN3	2134	2218	3.4e-4	SMART
FN3	2232	2306	1.59e-4	SMART
FN3	2320	2412	1.12e-4	SMART
FN3	2423	2510	8.9e-8	SMART
FN3	2524	2600	1.95e-4	SMART
FN3	2612	2701	4.67e-2	SMART
FN3	2715	2792	1.17e-7	SMART
FN3	2809	2902	1.12e-4	SMART
FN3	2913	2997	5.36e-2	SMART
FN3	3011	3089	2.46e-1	SMART
FN3	3101	3477	2.85e1	SMART
FN3	3491	3568	4e-1	SMART
FN3	3582	3659	5.87e-8	SMART
FN3	3673	3750	1.75e-6	SMART
FN3	3764	3845	9.62e-4	SMART
FN3	3859	3943	2.41e-4	SMART
FN3	3954	4044	5.11e-8	SMART
FN3	4058	4133	1.06e0	SMART
FN3	4147	4241	7.87e-9	SMART
FN3	4255	4334	1.15e-1	SMART
FN3	4348	4422	6.39e-9	SMART
FN3	4435	4510	6.91e-5	SMART
FN3	4521	4610	2.28e-5	SMART
FN3	4626	4713	1.71e0	SMART
FN3	4724	4805	1.3e0	SMART
FN3	4817	4909	3.62e-8	SMART
transmembrane domain	5032	5054	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	A	G	19: 8,866,587 (GRCm39)	T47A	probably damaging	Het
Acsm2	A	T	7: 119,179,939 (GRCm39)	I386F	probably benign	Het
Actn4	A	T	7: 28,606,397 (GRCm39)	D305E	probably benign	Het
Anln	A	G	9: 22,274,136 (GRCm39)	V567A	probably damaging	Het
Arhgap35	A	G	7: 16,297,343 (GRCm39)	I574T	probably benign	Het
Baz1b	C	A	5: 135,233,971 (GRCm39)	S166Y	probably damaging	Het
Ccdc191	T	C	16: 43,764,192 (GRCm39)	L551P	probably damaging	Het
Cdk5rap2	T	C	4: 70,210,110 (GRCm39)	T713A	probably benign	Het
Cep290	C	A	10: 100,330,785 (GRCm39)	A155E	possibly damaging	Het
Chst8	G	A	7: 34,447,496 (GRCm39)	Q41*	probably null	Het
Cyp2j6	C	A	4: 96,406,344 (GRCm39)	E476*	probably null	Het
Des	T	C	1: 75,343,434 (GRCm39)	V439A	probably benign	Het
Dimt1	A	G	13: 107,093,656 (GRCm39)	T283A	probably benign	Het
Dmxl1	T	A	18: 50,024,567 (GRCm39)	V1747D	possibly damaging	Het
Fhod1	G	A	8: 106,064,694 (GRCm39)	R137*	probably null	Het
Gab2	A	T	7: 96,953,448 (GRCm39)	D608V	probably damaging	Het
Gdpd1	T	C	11: 86,950,264 (GRCm39)	D103G	possibly damaging	Het
Hspa5	T	C	2: 34,664,610 (GRCm39)	S355P	probably benign	Het
Ide	A	T	19: 37,265,536 (GRCm39)	F619L		Het
Ifrd1	A	C	12: 40,267,225 (GRCm39)	D70E	probably benign	Het
Il18r1	T	A	1: 40,513,884 (GRCm39)	V30E	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcng1	A	G	2: 168,111,152 (GRCm39)	L4S	probably damaging	Het
Lrfn4	A	G	19: 4,664,357 (GRCm39)	F59S	probably damaging	Het
Lrrc15	T	C	16: 30,092,829 (GRCm39)	D170G	probably damaging	Het
Mettl21e	T	A	1: 44,245,536 (GRCm39)	M237L	probably benign	Het
Myh1	A	G	11: 67,102,049 (GRCm39)	K810E	probably benign	Het
Nbea	T	C	3: 55,573,011 (GRCm39)	D2524G	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nutm2	A	T	13: 50,621,455 (GRCm39)	T7S	probably benign	Het
Or10g3b	A	T	14: 52,586,678 (GRCm39)	L275H	probably damaging	Het
Or2a5	G	T	6: 42,873,835 (GRCm39)	C150F	probably benign	Het
Or2t49	T	C	11: 58,392,576 (GRCm39)	T275A	possibly damaging	Het
Or51q1	T	G	7: 103,629,198 (GRCm39)	F266L	probably damaging	Het
Or6k2	T	A	1: 173,986,552 (GRCm39)	I71K	possibly damaging	Het
Or7a39	A	G	10: 78,715,597 (GRCm39)	H197R	probably benign	Het
Pate4	A	G	9: 35,519,538 (GRCm39)	S51P	probably damaging	Het
Rbm19	T	C	5: 120,265,232 (GRCm39)		probably null	Het
Rnf139	A	G	15: 58,770,664 (GRCm39)	K230E	probably damaging	Het
Rpia	G	A	6: 70,754,377 (GRCm39)	Q134*	probably null	Het
Rsf1	GC	GCGGCGGCGCC	7: 97,229,141 (GRCm39)		probably benign	Het
Sbk2	G	A	7: 4,960,277 (GRCm39)	P298S	possibly damaging	Het
Scrt1	A	G	15: 76,403,292 (GRCm39)	S233P	unknown	Het
Sh2b1	CGGGGACCAGCTC	CGGGGACCAGCTCAGCCAAGGGGACCAGCTC	7: 126,066,760 (GRCm39)		probably benign	Het
Sppl2c	T	A	11: 104,078,153 (GRCm39)	Y318N	probably benign	Het
St6galnac4	G	A	2: 32,485,739 (GRCm39)	W215*	probably null	Het
Stxbp6	A	G	12: 45,066,360 (GRCm39)	L15P	probably benign	Het
Tmem104	T	C	11: 115,091,699 (GRCm39)	L74P	probably damaging	Het
Tnfrsf10b	A	G	14: 70,015,221 (GRCm39)	D233G	probably benign	Het
Trmt11	A	C	10: 30,434,938 (GRCm39)	Y369*	probably null	Het
Tusc1	T	A	4: 93,223,245 (GRCm39)	H138L	probably benign	Het
Xirp2	A	T	2: 67,344,280 (GRCm39)	I2174F	possibly damaging	Het
Zfp947	C	T	17: 22,364,582 (GRCm39)	G364D	probably benign	Het

Other mutations in Ush2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ush2a	APN	1	188,596,875 (GRCm39)	missense	probably benign	0.00
IGL00391:Ush2a	APN	1	188,648,258 (GRCm39)	missense	probably damaging	1.00
IGL00429:Ush2a	APN	1	188,132,311 (GRCm39)	nonsense	probably null
IGL00484:Ush2a	APN	1	188,514,710 (GRCm39)	missense	probably benign	0.00
IGL00519:Ush2a	APN	1	188,176,865 (GRCm39)	missense	probably benign	0.03
IGL00567:Ush2a	APN	1	188,697,114 (GRCm39)	missense	probably damaging	1.00
IGL00823:Ush2a	APN	1	188,643,640 (GRCm39)	missense	possibly damaging	0.61
IGL00940:Ush2a	APN	1	188,090,158 (GRCm39)	nonsense	probably null
IGL00951:Ush2a	APN	1	187,995,662 (GRCm39)	missense	probably benign	0.33
IGL00956:Ush2a	APN	1	188,485,719 (GRCm39)	missense	probably damaging	0.99
IGL01096:Ush2a	APN	1	188,410,574 (GRCm39)	missense	probably damaging	1.00
IGL01108:Ush2a	APN	1	188,595,022 (GRCm39)	missense	probably benign	0.00
IGL01315:Ush2a	APN	1	188,365,811 (GRCm39)	missense	possibly damaging	0.51
IGL01318:Ush2a	APN	1	188,546,550 (GRCm39)	missense	probably benign	0.00
IGL01324:Ush2a	APN	1	188,581,189 (GRCm39)	missense	probably benign	0.38
IGL01326:Ush2a	APN	1	187,995,518 (GRCm39)	nonsense	probably null
IGL01384:Ush2a	APN	1	188,285,425 (GRCm39)	missense	possibly damaging	0.65
IGL01466:Ush2a	APN	1	188,643,819 (GRCm39)	missense	probably benign	0.00
IGL01518:Ush2a	APN	1	188,131,982 (GRCm39)	missense	probably benign	0.01
IGL01585:Ush2a	APN	1	188,162,924 (GRCm39)	missense	probably damaging	1.00
IGL01595:Ush2a	APN	1	188,386,921 (GRCm39)	critical splice donor site	probably null
IGL01657:Ush2a	APN	1	188,558,658 (GRCm39)	missense	probably benign	0.03
IGL01797:Ush2a	APN	1	187,995,706 (GRCm39)	missense	probably damaging	1.00
IGL01802:Ush2a	APN	1	188,169,154 (GRCm39)	missense	probably damaging	0.99
IGL01836:Ush2a	APN	1	188,492,060 (GRCm39)	splice site	probably benign
IGL01938:Ush2a	APN	1	188,530,042 (GRCm39)	missense	probably damaging	1.00
IGL01976:Ush2a	APN	1	188,643,438 (GRCm39)	missense	probably benign	0.04
IGL02023:Ush2a	APN	1	188,465,711 (GRCm39)	missense	probably benign	0.03
IGL02126:Ush2a	APN	1	187,995,588 (GRCm39)	missense	probably benign	0.01
IGL02133:Ush2a	APN	1	188,175,540 (GRCm39)	missense	probably damaging	1.00
IGL02147:Ush2a	APN	1	188,596,900 (GRCm39)	missense	probably benign
IGL02275:Ush2a	APN	1	187,995,466 (GRCm39)	missense	possibly damaging	0.67
IGL02314:Ush2a	APN	1	188,365,826 (GRCm39)	missense	probably benign	0.00
IGL02353:Ush2a	APN	1	188,460,635 (GRCm39)	missense	probably benign	0.04
IGL02360:Ush2a	APN	1	188,460,635 (GRCm39)	missense	probably benign	0.04
IGL02367:Ush2a	APN	1	188,516,943 (GRCm39)	missense	probably benign
IGL02402:Ush2a	APN	1	187,999,305 (GRCm39)	missense	probably benign	0.02
IGL02410:Ush2a	APN	1	188,648,194 (GRCm39)	missense	probably damaging	1.00
IGL02490:Ush2a	APN	1	188,542,561 (GRCm39)	missense	probably damaging	1.00
IGL02500:Ush2a	APN	1	188,554,893 (GRCm39)	missense	probably damaging	1.00
IGL02511:Ush2a	APN	1	188,475,884 (GRCm39)	critical splice donor site	probably null
IGL02517:Ush2a	APN	1	188,648,195 (GRCm39)	missense	probably damaging	1.00
IGL02536:Ush2a	APN	1	188,689,463 (GRCm39)	critical splice acceptor site	probably null
IGL02585:Ush2a	APN	1	188,460,530 (GRCm39)	missense	probably benign	0.00
IGL02610:Ush2a	APN	1	188,176,663 (GRCm39)	missense	probably damaging	0.98
IGL02677:Ush2a	APN	1	188,466,882 (GRCm39)	missense	probably damaging	1.00
IGL02691:Ush2a	APN	1	188,466,949 (GRCm39)	missense	probably damaging	1.00
IGL02740:Ush2a	APN	1	188,380,585 (GRCm39)	missense	possibly damaging	0.68
IGL02744:Ush2a	APN	1	188,090,914 (GRCm39)	splice site	probably null
IGL02749:Ush2a	APN	1	188,679,155 (GRCm39)	missense	probably damaging	0.99
IGL02806:Ush2a	APN	1	188,542,554 (GRCm39)	nonsense	probably null
IGL02870:Ush2a	APN	1	188,410,555 (GRCm39)	missense	probably benign	0.42
IGL02894:Ush2a	APN	1	188,184,043 (GRCm39)	missense	probably damaging	1.00
IGL02904:Ush2a	APN	1	188,638,703 (GRCm39)	missense	probably benign	0.06
IGL03000:Ush2a	APN	1	188,282,053 (GRCm39)	missense	possibly damaging	0.81
IGL03015:Ush2a	APN	1	188,169,147 (GRCm39)	missense	probably benign	0.01
IGL03036:Ush2a	APN	1	188,596,818 (GRCm39)	missense	possibly damaging	0.80
IGL03057:Ush2a	APN	1	188,530,035 (GRCm39)	missense	probably damaging	1.00
IGL03230:Ush2a	APN	1	188,198,390 (GRCm39)	missense	probably benign	0.09
IGL03278:Ush2a	APN	1	188,581,313 (GRCm39)	missense	probably damaging	1.00
BB003:Ush2a	UTSW	1	188,460,797 (GRCm39)	missense	probably benign
BB013:Ush2a	UTSW	1	188,460,797 (GRCm39)	missense	probably benign
PIT4283001:Ush2a	UTSW	1	188,169,064 (GRCm39)	missense	probably benign	0.01
R0003:Ush2a	UTSW	1	188,310,688 (GRCm39)	missense	probably damaging	0.99
R0030:Ush2a	UTSW	1	188,554,854 (GRCm39)	missense	possibly damaging	0.51
R0035:Ush2a	UTSW	1	188,089,085 (GRCm39)	missense	probably benign
R0038:Ush2a	UTSW	1	188,358,809 (GRCm39)	missense	probably benign	0.00
R0038:Ush2a	UTSW	1	188,358,809 (GRCm39)	missense	probably benign	0.00
R0067:Ush2a	UTSW	1	188,697,043 (GRCm39)	missense	probably damaging	0.99
R0067:Ush2a	UTSW	1	188,697,043 (GRCm39)	missense	probably damaging	0.99
R0103:Ush2a	UTSW	1	188,051,267 (GRCm39)	missense	possibly damaging	0.81
R0103:Ush2a	UTSW	1	188,051,267 (GRCm39)	missense	possibly damaging	0.81
R0122:Ush2a	UTSW	1	188,680,652 (GRCm39)	missense	possibly damaging	0.65
R0206:Ush2a	UTSW	1	188,263,958 (GRCm39)	missense	probably damaging	0.99
R0208:Ush2a	UTSW	1	188,263,958 (GRCm39)	missense	probably damaging	0.99
R0230:Ush2a	UTSW	1	188,582,301 (GRCm39)	missense	probably damaging	1.00
R0269:Ush2a	UTSW	1	188,542,373 (GRCm39)	missense	probably benign	0.33
R0319:Ush2a	UTSW	1	188,680,571 (GRCm39)	splice site	probably benign
R0358:Ush2a	UTSW	1	188,269,977 (GRCm39)	missense	possibly damaging	0.83
R0379:Ush2a	UTSW	1	188,184,016 (GRCm39)	missense	probably damaging	1.00
R0427:Ush2a	UTSW	1	188,132,478 (GRCm39)	missense	probably damaging	1.00
R0437:Ush2a	UTSW	1	188,643,228 (GRCm39)	missense	probably benign	0.00
R0462:Ush2a	UTSW	1	188,643,136 (GRCm39)	missense	probably benign
R0510:Ush2a	UTSW	1	188,466,860 (GRCm39)	splice site	probably benign
R0531:Ush2a	UTSW	1	188,175,378 (GRCm39)	missense	probably benign	0.18
R0541:Ush2a	UTSW	1	188,446,663 (GRCm39)	splice site	probably benign
R0549:Ush2a	UTSW	1	188,679,150 (GRCm39)	missense	probably damaging	0.99
R0562:Ush2a	UTSW	1	188,089,044 (GRCm39)	missense	probably damaging	1.00
R0636:Ush2a	UTSW	1	188,554,935 (GRCm39)	missense	probably benign
R0662:Ush2a	UTSW	1	188,083,290 (GRCm39)	missense	probably benign	0.26
R0685:Ush2a	UTSW	1	188,132,475 (GRCm39)	missense	probably damaging	1.00
R0718:Ush2a	UTSW	1	188,530,027 (GRCm39)	missense	probably damaging	1.00
R0725:Ush2a	UTSW	1	188,683,722 (GRCm39)	missense	probably damaging	1.00
R0735:Ush2a	UTSW	1	188,596,890 (GRCm39)	missense	probably benign	0.04
R0744:Ush2a	UTSW	1	188,546,603 (GRCm39)	splice site	probably benign
R0765:Ush2a	UTSW	1	188,680,771 (GRCm39)	missense	possibly damaging	0.67
R0862:Ush2a	UTSW	1	188,275,015 (GRCm39)	nonsense	probably null
R1067:Ush2a	UTSW	1	188,282,404 (GRCm39)	missense	probably benign	0.35
R1072:Ush2a	UTSW	1	188,460,914 (GRCm39)	missense	possibly damaging	0.91
R1099:Ush2a	UTSW	1	188,596,836 (GRCm39)	missense	probably damaging	1.00
R1099:Ush2a	UTSW	1	188,380,545 (GRCm39)	missense	probably benign	0.06
R1104:Ush2a	UTSW	1	188,648,453 (GRCm39)	missense	probably benign
R1106:Ush2a	UTSW	1	188,643,180 (GRCm39)	missense	possibly damaging	0.82
R1124:Ush2a	UTSW	1	188,485,733 (GRCm39)	missense	probably damaging	0.99
R1168:Ush2a	UTSW	1	188,410,608 (GRCm39)	missense	probably benign	0.01
R1199:Ush2a	UTSW	1	188,491,992 (GRCm39)	missense	probably benign	0.00
R1215:Ush2a	UTSW	1	188,689,479 (GRCm39)	missense	possibly damaging	0.66
R1307:Ush2a	UTSW	1	188,184,037 (GRCm39)	missense	probably damaging	1.00
R1307:Ush2a	UTSW	1	188,090,164 (GRCm39)	missense	probably damaging	1.00
R1311:Ush2a	UTSW	1	188,679,342 (GRCm39)	missense	possibly damaging	0.86
R1388:Ush2a	UTSW	1	188,255,515 (GRCm39)	splice site	probably benign
R1416:Ush2a	UTSW	1	188,169,080 (GRCm39)	missense	probably damaging	1.00
R1424:Ush2a	UTSW	1	188,275,075 (GRCm39)	critical splice donor site	probably null
R1459:Ush2a	UTSW	1	188,595,048 (GRCm39)	missense	probably benign	0.05
R1470:Ush2a	UTSW	1	188,132,403 (GRCm39)	missense	probably benign	0.00
R1470:Ush2a	UTSW	1	188,132,403 (GRCm39)	missense	probably benign	0.00
R1477:Ush2a	UTSW	1	188,581,273 (GRCm39)	missense	probably benign	0.05
R1484:Ush2a	UTSW	1	188,542,534 (GRCm39)	nonsense	probably null
R1490:Ush2a	UTSW	1	188,092,038 (GRCm39)	missense	probably benign	0.24
R1510:Ush2a	UTSW	1	188,380,501 (GRCm39)	missense	probably damaging	1.00
R1522:Ush2a	UTSW	1	188,530,011 (GRCm39)	missense	possibly damaging	0.94
R1606:Ush2a	UTSW	1	188,491,963 (GRCm39)	missense	probably benign	0.17
R1618:Ush2a	UTSW	1	188,546,421 (GRCm39)	missense	probably benign	0.29
R1636:Ush2a	UTSW	1	188,198,373 (GRCm39)	missense	possibly damaging	0.53
R1646:Ush2a	UTSW	1	188,148,018 (GRCm39)	missense	probably damaging	1.00
R1660:Ush2a	UTSW	1	188,648,261 (GRCm39)	missense	probably benign
R1676:Ush2a	UTSW	1	188,460,782 (GRCm39)	missense	probably damaging	1.00
R1704:Ush2a	UTSW	1	188,553,993 (GRCm39)	missense	probably damaging	1.00
R1705:Ush2a	UTSW	1	188,643,738 (GRCm39)	missense	probably benign	0.40
R1705:Ush2a	UTSW	1	188,607,066 (GRCm39)	missense	probably damaging	1.00
R1760:Ush2a	UTSW	1	188,643,180 (GRCm39)	missense	possibly damaging	0.82
R1776:Ush2a	UTSW	1	188,460,400 (GRCm39)	missense	possibly damaging	0.83
R1782:Ush2a	UTSW	1	188,643,382 (GRCm39)	missense	probably benign	0.06
R1794:Ush2a	UTSW	1	188,595,006 (GRCm39)	missense	probably benign	0.00
R1796:Ush2a	UTSW	1	188,643,024 (GRCm39)	missense	probably benign	0.11
R1804:Ush2a	UTSW	1	188,365,926 (GRCm39)	critical splice donor site	probably null
R1835:Ush2a	UTSW	1	188,184,015 (GRCm39)	missense	probably benign	0.13
R1871:Ush2a	UTSW	1	188,558,665 (GRCm39)	missense	probably benign	0.02
R1876:Ush2a	UTSW	1	188,410,486 (GRCm39)	missense	possibly damaging	0.51
R1887:Ush2a	UTSW	1	188,132,177 (GRCm39)	missense	probably benign	0.05
R1896:Ush2a	UTSW	1	188,282,206 (GRCm39)	missense	probably benign	0.00
R1907:Ush2a	UTSW	1	188,447,261 (GRCm39)	missense	probably benign	0.01
R1940:Ush2a	UTSW	1	188,683,758 (GRCm39)	missense	probably null	0.89
R1950:Ush2a	UTSW	1	188,487,382 (GRCm39)	missense	probably damaging	1.00
R1991:Ush2a	UTSW	1	188,310,729 (GRCm39)	splice site	probably benign
R2043:Ush2a	UTSW	1	188,648,453 (GRCm39)	missense	probably benign	0.00
R2046:Ush2a	UTSW	1	188,089,124 (GRCm39)	missense	probably benign	0.01
R2059:Ush2a	UTSW	1	188,113,746 (GRCm39)	critical splice donor site	probably null
R2239:Ush2a	UTSW	1	188,308,411 (GRCm39)	missense	probably benign
R2365:Ush2a	UTSW	1	188,111,188 (GRCm39)	missense	possibly damaging	0.68
R2395:Ush2a	UTSW	1	188,679,237 (GRCm39)	missense	probably damaging	1.00
R2425:Ush2a	UTSW	1	188,270,001 (GRCm39)	missense	possibly damaging	0.82
R2519:Ush2a	UTSW	1	187,999,304 (GRCm39)	missense	probably benign
R3039:Ush2a	UTSW	1	188,643,744 (GRCm39)	missense	probably damaging	0.99
R3434:Ush2a	UTSW	1	188,465,955 (GRCm39)	missense	probably damaging	1.00
R3711:Ush2a	UTSW	1	188,542,489 (GRCm39)	missense	probably benign	0.05
R3712:Ush2a	UTSW	1	188,542,489 (GRCm39)	missense	probably benign	0.05
R3732:Ush2a	UTSW	1	188,676,957 (GRCm39)	missense	probably benign	0.16
R3746:Ush2a	UTSW	1	188,542,489 (GRCm39)	missense	probably benign	0.05
R3747:Ush2a	UTSW	1	188,542,489 (GRCm39)	missense	probably benign	0.05
R3883:Ush2a	UTSW	1	187,995,579 (GRCm39)	missense	probably benign
R3911:Ush2a	UTSW	1	188,132,151 (GRCm39)	missense	probably benign	0.05
R3934:Ush2a	UTSW	1	187,995,708 (GRCm39)	critical splice donor site	probably null
R3946:Ush2a	UTSW	1	188,460,701 (GRCm39)	missense	probably benign	0.01
R3974:Ush2a	UTSW	1	188,113,698 (GRCm39)	missense	probably benign	0.06
R4158:Ush2a	UTSW	1	188,460,907 (GRCm39)	missense	probably damaging	1.00
R4159:Ush2a	UTSW	1	188,460,907 (GRCm39)	missense	probably damaging	1.00
R4161:Ush2a	UTSW	1	188,460,907 (GRCm39)	missense	probably damaging	1.00
R4162:Ush2a	UTSW	1	188,475,877 (GRCm39)	missense	probably benign	0.00
R4255:Ush2a	UTSW	1	188,492,040 (GRCm39)	nonsense	probably null
R4280:Ush2a	UTSW	1	188,310,658 (GRCm39)	missense	probably benign	0.16
R4387:Ush2a	UTSW	1	188,175,628 (GRCm39)	missense	probably benign	0.00
R4416:Ush2a	UTSW	1	188,089,071 (GRCm39)	missense	probably damaging	0.97
R4494:Ush2a	UTSW	1	188,285,473 (GRCm39)	missense	possibly damaging	0.50
R4505:Ush2a	UTSW	1	188,460,793 (GRCm39)	missense	possibly damaging	0.92
R4522:Ush2a	UTSW	1	188,596,822 (GRCm39)	missense	probably damaging	1.00
R4584:Ush2a	UTSW	1	188,183,995 (GRCm39)	missense	probably benign	0.00
R4599:Ush2a	UTSW	1	188,643,844 (GRCm39)	missense	probably benign	0.01
R4605:Ush2a	UTSW	1	188,642,998 (GRCm39)	missense	probably damaging	1.00
R4632:Ush2a	UTSW	1	188,128,071 (GRCm39)	missense	possibly damaging	0.82
R4688:Ush2a	UTSW	1	188,132,138 (GRCm39)	missense	probably benign	0.01
R4751:Ush2a	UTSW	1	188,582,284 (GRCm39)	missense	probably damaging	0.98
R4770:Ush2a	UTSW	1	188,282,076 (GRCm39)	missense	probably benign	0.25
R4771:Ush2a	UTSW	1	188,529,966 (GRCm39)	missense	possibly damaging	0.92
R4798:Ush2a	UTSW	1	188,475,742 (GRCm39)	missense	probably damaging	1.00
R4821:Ush2a	UTSW	1	188,485,848 (GRCm39)	missense	probably benign	0.32
R4857:Ush2a	UTSW	1	188,269,917 (GRCm39)	missense	probably benign	0.01
R4860:Ush2a	UTSW	1	188,285,472 (GRCm39)	missense	probably benign	0.07
R4860:Ush2a	UTSW	1	188,285,472 (GRCm39)	missense	probably benign	0.07
R4898:Ush2a	UTSW	1	188,358,805 (GRCm39)	missense	probably benign	0.37
R4993:Ush2a	UTSW	1	188,642,917 (GRCm39)	missense	probably benign	0.03
R5035:Ush2a	UTSW	1	188,643,005 (GRCm39)	missense	probably damaging	1.00
R5061:Ush2a	UTSW	1	188,689,471 (GRCm39)	missense	probably benign	0.03
R5150:Ush2a	UTSW	1	188,184,067 (GRCm39)	missense	possibly damaging	0.95
R5205:Ush2a	UTSW	1	188,607,133 (GRCm39)	missense	probably benign	0.21
R5212:Ush2a	UTSW	1	188,176,902 (GRCm39)	critical splice donor site	probably null
R5252:Ush2a	UTSW	1	188,553,914 (GRCm39)	missense	possibly damaging	0.83
R5260:Ush2a	UTSW	1	188,679,276 (GRCm39)	missense	possibly damaging	0.95
R5304:Ush2a	UTSW	1	188,088,995 (GRCm39)	missense	probably damaging	0.99
R5323:Ush2a	UTSW	1	188,553,874 (GRCm39)	critical splice acceptor site	probably null
R5330:Ush2a	UTSW	1	188,460,578 (GRCm39)	missense	probably benign	0.00
R5331:Ush2a	UTSW	1	188,460,578 (GRCm39)	missense	probably benign	0.00
R5332:Ush2a	UTSW	1	188,083,276 (GRCm39)	missense	probably damaging	1.00
R5371:Ush2a	UTSW	1	188,175,267 (GRCm39)	missense	probably benign	0.00
R5374:Ush2a	UTSW	1	188,487,403 (GRCm39)	missense	probably benign
R5377:Ush2a	UTSW	1	188,644,320 (GRCm39)	missense	probably benign	0.00
R5525:Ush2a	UTSW	1	188,485,803 (GRCm39)	missense	probably benign	0.01
R5558:Ush2a	UTSW	1	188,530,024 (GRCm39)	missense	possibly damaging	0.47
R5562:Ush2a	UTSW	1	188,308,414 (GRCm39)	missense	probably damaging	1.00
R5595:Ush2a	UTSW	1	188,638,695 (GRCm39)	missense	possibly damaging	0.95
R5620:Ush2a	UTSW	1	188,492,020 (GRCm39)	missense	possibly damaging	0.82
R5714:Ush2a	UTSW	1	188,132,454 (GRCm39)	missense	probably benign	0.00
R5743:Ush2a	UTSW	1	188,169,159 (GRCm39)	missense	probably benign	0.01
R5779:Ush2a	UTSW	1	188,175,707 (GRCm39)	critical splice donor site	probably null
R5795:Ush2a	UTSW	1	188,175,594 (GRCm39)	missense	probably benign	0.34
R5897:Ush2a	UTSW	1	188,553,935 (GRCm39)	missense	probably damaging	1.00
R5918:Ush2a	UTSW	1	188,089,011 (GRCm39)	missense	probably benign	0.26
R6000:Ush2a	UTSW	1	187,999,223 (GRCm39)	nonsense	probably null
R6014:Ush2a	UTSW	1	188,582,237 (GRCm39)	missense	probably damaging	0.98
R6017:Ush2a	UTSW	1	188,689,711 (GRCm39)	critical splice donor site	probably null
R6020:Ush2a	UTSW	1	188,460,293 (GRCm39)	splice site	probably null
R6039:Ush2a	UTSW	1	188,051,217 (GRCm39)	missense	possibly damaging	0.76
R6039:Ush2a	UTSW	1	188,051,217 (GRCm39)	missense	possibly damaging	0.76
R6050:Ush2a	UTSW	1	188,689,521 (GRCm39)	missense	probably benign	0.06
R6083:Ush2a	UTSW	1	187,999,220 (GRCm39)	missense	probably damaging	1.00
R6091:Ush2a	UTSW	1	188,132,000 (GRCm39)	missense	probably damaging	1.00
R6120:Ush2a	UTSW	1	188,090,800 (GRCm39)	missense	probably benign	0.04
R6135:Ush2a	UTSW	1	188,644,303 (GRCm39)	missense	possibly damaging	0.68
R6141:Ush2a	UTSW	1	188,090,160 (GRCm39)	missense	possibly damaging	0.71
R6157:Ush2a	UTSW	1	188,460,467 (GRCm39)	missense	probably benign	0.00
R6180:Ush2a	UTSW	1	188,132,068 (GRCm39)	nonsense	probably null
R6191:Ush2a	UTSW	1	187,995,298 (GRCm39)	nonsense	probably null
R6217:Ush2a	UTSW	1	188,475,651 (GRCm39)	splice site	probably null
R6263:Ush2a	UTSW	1	188,090,839 (GRCm39)	missense	probably damaging	1.00
R6294:Ush2a	UTSW	1	188,268,567 (GRCm39)	missense	possibly damaging	0.49
R6320:Ush2a	UTSW	1	188,089,043 (GRCm39)	missense	probably benign	0.01
R6321:Ush2a	UTSW	1	188,581,243 (GRCm39)	nonsense	probably null
R6347:Ush2a	UTSW	1	188,643,084 (GRCm39)	missense	probably benign
R6382:Ush2a	UTSW	1	188,546,499 (GRCm39)	missense	probably benign	0.01
R6408:Ush2a	UTSW	1	187,999,229 (GRCm39)	nonsense	probably null
R6418:Ush2a	UTSW	1	188,360,763 (GRCm39)	missense	probably damaging	1.00
R6500:Ush2a	UTSW	1	188,573,724 (GRCm39)	missense	probably benign	0.00
R6504:Ush2a	UTSW	1	188,643,444 (GRCm39)	missense	probably benign	0.00
R6534:Ush2a	UTSW	1	188,183,999 (GRCm39)	nonsense	probably null
R6594:Ush2a	UTSW	1	188,642,995 (GRCm39)	missense	possibly damaging	0.93
R6612:Ush2a	UTSW	1	188,643,594 (GRCm39)	missense	possibly damaging	0.91
R6645:Ush2a	UTSW	1	188,255,528 (GRCm39)	missense	probably damaging	0.99
R6658:Ush2a	UTSW	1	188,546,556 (GRCm39)	missense	possibly damaging	0.95
R6726:Ush2a	UTSW	1	188,485,881 (GRCm39)	missense	possibly damaging	0.85
R6755:Ush2a	UTSW	1	188,175,416 (GRCm39)	missense	possibly damaging	0.95
R6782:Ush2a	UTSW	1	188,089,031 (GRCm39)	missense	probably benign
R6817:Ush2a	UTSW	1	188,595,061 (GRCm39)	missense	probably benign	0.03
R6834:Ush2a	UTSW	1	188,088,989 (GRCm39)	missense	probably damaging	1.00
R6851:Ush2a	UTSW	1	188,265,402 (GRCm39)	missense	probably benign	0.06
R6853:Ush2a	UTSW	1	188,643,434 (GRCm39)	nonsense	probably null
R6867:Ush2a	UTSW	1	188,643,170 (GRCm39)	missense	probably damaging	1.00
R6889:Ush2a	UTSW	1	188,530,068 (GRCm39)	missense	probably damaging	1.00
R6931:Ush2a	UTSW	1	188,460,580 (GRCm39)	missense	probably benign	0.01
R6953:Ush2a	UTSW	1	187,995,342 (GRCm39)	missense	possibly damaging	0.94
R6966:Ush2a	UTSW	1	188,308,441 (GRCm39)	missense	probably damaging	1.00
R7109:Ush2a	UTSW	1	188,113,681 (GRCm39)	missense	probably benign	0.19
R7153:Ush2a	UTSW	1	188,460,681 (GRCm39)	missense	possibly damaging	0.93
R7176:Ush2a	UTSW	1	188,269,925 (GRCm39)	missense	probably benign	0.00
R7182:Ush2a	UTSW	1	188,485,740 (GRCm39)	missense	probably benign	0.01
R7201:Ush2a	UTSW	1	188,606,951 (GRCm39)	missense	probably benign
R7223:Ush2a	UTSW	1	188,542,414 (GRCm39)	missense	probably benign	0.09
R7231:Ush2a	UTSW	1	188,491,960 (GRCm39)	missense	possibly damaging	0.49
R7240:Ush2a	UTSW	1	188,643,858 (GRCm39)	missense	possibly damaging	0.83
R7263:Ush2a	UTSW	1	188,175,526 (GRCm39)	missense	possibly damaging	0.94
R7329:Ush2a	UTSW	1	188,285,395 (GRCm39)	missense	probably damaging	0.97
R7343:Ush2a	UTSW	1	188,147,943 (GRCm39)	missense	probably benign	0.00
R7352:Ush2a	UTSW	1	188,198,321 (GRCm39)	missense	probably benign	0.04
R7384:Ush2a	UTSW	1	188,132,360 (GRCm39)	missense	probably damaging	0.99
R7391:Ush2a	UTSW	1	188,694,205 (GRCm39)	small deletion	probably benign
R7394:Ush2a	UTSW	1	188,643,613 (GRCm39)	missense	possibly damaging	0.83
R7403:Ush2a	UTSW	1	188,365,924 (GRCm39)	missense	probably damaging	1.00
R7408:Ush2a	UTSW	1	188,465,726 (GRCm39)	missense	probably benign	0.00
R7453:Ush2a	UTSW	1	188,285,308 (GRCm39)	missense	probably damaging	1.00
R7496:Ush2a	UTSW	1	188,083,284 (GRCm39)	missense	possibly damaging	0.50
R7552:Ush2a	UTSW	1	187,999,241 (GRCm39)	missense	possibly damaging	0.65
R7556:Ush2a	UTSW	1	188,689,690 (GRCm39)	missense	probably benign	0.31
R7575:Ush2a	UTSW	1	188,554,885 (GRCm39)	missense	possibly damaging	0.90
R7578:Ush2a	UTSW	1	188,282,110 (GRCm39)	missense	probably damaging	1.00
R7584:Ush2a	UTSW	1	188,460,306 (GRCm39)	critical splice acceptor site	probably null
R7589:Ush2a	UTSW	1	188,275,046 (GRCm39)	missense	probably benign	0.00
R7602:Ush2a	UTSW	1	188,380,606 (GRCm39)	missense	probably damaging	1.00
R7670:Ush2a	UTSW	1	188,516,905 (GRCm39)	missense	possibly damaging	0.78
R7743:Ush2a	UTSW	1	188,542,376 (GRCm39)	missense	probably benign	0.05
R7753:Ush2a	UTSW	1	188,175,603 (GRCm39)	missense	probably benign	0.28
R7767:Ush2a	UTSW	1	188,285,457 (GRCm39)	missense	probably benign	0.01
R7784:Ush2a	UTSW	1	188,176,789 (GRCm39)	missense	possibly damaging	0.55
R7831:Ush2a	UTSW	1	188,492,038 (GRCm39)	missense	probably damaging	0.98
R7834:Ush2a	UTSW	1	188,465,637 (GRCm39)	nonsense	probably null
R7847:Ush2a	UTSW	1	188,163,005 (GRCm39)	missense	probably damaging	1.00
R7926:Ush2a	UTSW	1	188,460,797 (GRCm39)	missense	probably benign
R7969:Ush2a	UTSW	1	188,558,568 (GRCm39)	missense	probably benign	0.02
R7978:Ush2a	UTSW	1	188,132,135 (GRCm39)	missense	probably benign	0.00
R7990:Ush2a	UTSW	1	188,274,996 (GRCm39)	missense	probably benign	0.00
R8001:Ush2a	UTSW	1	188,643,261 (GRCm39)	missense	probably damaging	0.98
R8039:Ush2a	UTSW	1	188,689,570 (GRCm39)	missense	probably damaging	1.00
R8077:Ush2a	UTSW	1	188,275,025 (GRCm39)	missense	probably benign	0.01
R8165:Ush2a	UTSW	1	188,183,952 (GRCm39)	missense	possibly damaging	0.70
R8208:Ush2a	UTSW	1	188,606,990 (GRCm39)	missense	possibly damaging	0.95
R8220:Ush2a	UTSW	1	188,460,863 (GRCm39)	missense	probably damaging	1.00
R8270:Ush2a	UTSW	1	188,176,838 (GRCm39)	missense	probably benign	0.06
R8316:Ush2a	UTSW	1	188,178,899 (GRCm39)	missense	probably benign	0.01
R8347:Ush2a	UTSW	1	188,679,281 (GRCm39)	missense	probably benign	0.02
R8360:Ush2a	UTSW	1	188,198,468 (GRCm39)	missense	probably benign	0.01
R8362:Ush2a	UTSW	1	188,689,650 (GRCm39)	missense	probably damaging	0.96
R8386:Ush2a	UTSW	1	188,460,403 (GRCm39)	missense	possibly damaging	0.80
R8401:Ush2a	UTSW	1	188,275,062 (GRCm39)	missense	probably benign	0.10
R8439:Ush2a	UTSW	1	188,582,254 (GRCm39)	missense	probably damaging	1.00
R8465:Ush2a	UTSW	1	188,147,875 (GRCm39)	missense	probably damaging	1.00
R8478:Ush2a	UTSW	1	188,175,429 (GRCm39)	missense	possibly damaging	0.83
R8540:Ush2a	UTSW	1	188,274,858 (GRCm39)	missense	probably benign	0.00
R8684:Ush2a	UTSW	1	188,643,220 (GRCm39)	missense	possibly damaging	0.45
R8685:Ush2a	UTSW	1	188,198,401 (GRCm39)	missense	probably damaging	1.00
R8699:Ush2a	UTSW	1	188,643,574 (GRCm39)	missense	probably damaging	1.00
R8720:Ush2a	UTSW	1	188,090,715 (GRCm39)	missense	probably benign	0.05
R8754:Ush2a	UTSW	1	188,581,162 (GRCm39)	nonsense	probably null
R8756:Ush2a	UTSW	1	188,644,141 (GRCm39)	missense	possibly damaging	0.91
R8788:Ush2a	UTSW	1	188,475,816 (GRCm39)	nonsense	probably null
R8803:Ush2a	UTSW	1	188,676,998 (GRCm39)	missense	probably benign
R8817:Ush2a	UTSW	1	187,995,231 (GRCm39)	start codon destroyed	probably benign	0.00
R8837:Ush2a	UTSW	1	188,485,847 (GRCm39)	missense	probably benign
R8880:Ush2a	UTSW	1	188,460,733 (GRCm39)	missense	probably benign	0.11
R8902:Ush2a	UTSW	1	188,175,281 (GRCm39)	missense	probably damaging	0.98
R8918:Ush2a	UTSW	1	188,270,017 (GRCm39)	missense	possibly damaging	0.85
R8940:Ush2a	UTSW	1	188,132,505 (GRCm39)	missense	probably benign	0.02
R8968:Ush2a	UTSW	1	188,127,956 (GRCm39)	missense	probably damaging	1.00
R8995:Ush2a	UTSW	1	188,176,850 (GRCm39)	missense	probably damaging	0.98
R9011:Ush2a	UTSW	1	188,638,676 (GRCm39)	missense	probably damaging	0.99
R9037:Ush2a	UTSW	1	187,995,487 (GRCm39)	missense	possibly damaging	0.51
R9063:Ush2a	UTSW	1	187,995,457 (GRCm39)	missense	probably benign	0.00
R9089:Ush2a	UTSW	1	188,487,374 (GRCm39)	nonsense	probably null
R9096:Ush2a	UTSW	1	188,198,333 (GRCm39)	missense	probably benign	0.00
R9118:Ush2a	UTSW	1	188,386,839 (GRCm39)	missense	probably damaging	0.98
R9174:Ush2a	UTSW	1	188,460,416 (GRCm39)	missense	probably damaging	0.99
R9210:Ush2a	UTSW	1	188,516,866 (GRCm39)	missense	probably null	0.01
R9242:Ush2a	UTSW	1	188,365,787 (GRCm39)	missense	probably damaging	1.00
R9321:Ush2a	UTSW	1	188,089,148 (GRCm39)	missense	probably damaging	0.97
R9338:Ush2a	UTSW	1	188,308,489 (GRCm39)	critical splice donor site	probably null
R9357:Ush2a	UTSW	1	188,607,147 (GRCm39)	missense	probably benign	0.01
R9358:Ush2a	UTSW	1	188,607,147 (GRCm39)	missense	probably benign	0.01
R9406:Ush2a	UTSW	1	187,995,646 (GRCm39)	missense	probably benign	0.00
R9407:Ush2a	UTSW	1	188,644,045 (GRCm39)	missense	probably damaging	1.00
R9428:Ush2a	UTSW	1	188,175,316 (GRCm39)	missense	probably damaging	1.00
R9456:Ush2a	UTSW	1	188,558,589 (GRCm39)	missense	probably benign	0.00
R9509:Ush2a	UTSW	1	188,648,440 (GRCm39)	missense	probably damaging	1.00
R9512:Ush2a	UTSW	1	188,643,160 (GRCm39)	missense	probably damaging	0.99
R9564:Ush2a	UTSW	1	188,268,551 (GRCm39)	missense	possibly damaging	0.90
R9612:Ush2a	UTSW	1	188,092,063 (GRCm39)	nonsense	probably null
R9670:Ush2a	UTSW	1	188,360,768 (GRCm39)	missense	probably benign	0.03
R9684:Ush2a	UTSW	1	188,132,078 (GRCm39)	missense	possibly damaging	0.67
R9798:Ush2a	UTSW	1	188,644,002 (GRCm39)	missense	possibly damaging	0.80
RF017:Ush2a	UTSW	1	187,995,666 (GRCm39)	missense	probably damaging	1.00
U24488:Ush2a	UTSW	1	188,162,963 (GRCm39)	missense	probably damaging	0.99
X0011:Ush2a	UTSW	1	188,051,166 (GRCm39)	missense	probably benign	0.00
X0024:Ush2a	UTSW	1	188,132,479 (GRCm39)	missense	probably damaging	1.00
X0026:Ush2a	UTSW	1	188,051,222 (GRCm39)	missense	possibly damaging	0.94
X0062:Ush2a	UTSW	1	188,282,051 (GRCm39)	missense	probably damaging	1.00
Y4340:Ush2a	UTSW	1	188,475,826 (GRCm39)	missense	possibly damaging	0.87
Y4341:Ush2a	UTSW	1	188,475,826 (GRCm39)	missense	possibly damaging	0.87
Z1088:Ush2a	UTSW	1	188,679,201 (GRCm39)	missense	probably benign	0.26
Z1088:Ush2a	UTSW	1	188,644,180 (GRCm39)	missense	probably benign
Z1176:Ush2a	UTSW	1	188,089,038 (GRCm39)	missense	probably damaging	1.00
Z1177:Ush2a	UTSW	1	188,644,407 (GRCm39)	missense	possibly damaging	0.77
Z1177:Ush2a	UTSW	1	188,465,741 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTGTTACCCTCCCACATGG -3'
(R):5'- TATTGGGCAGTGTACCAGAGG -3'

Sequencing Primer
(F):5'- GACAAATTAATAAAGCCCTGGGTTGC -3'
(R):5'- GGGAGGTCACAGTTTCCAAC -3'

Posted On

2022-07-18