Mutagenetix > Incidental Mutation

Incidental Mutation 'R1522:Ush2a'

167491

Institutional Source

Beutler Lab

Gene Symbol

Ush2a

Ensembl Gene

ENSMUSG00000026609

Gene Name

usherin

Synonyms

A930011D15Rik, LOC381317, A930037M10Rik, LOC269160, Usherin, MUSH2A

MMRRC Submission

040871-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.648) question?

Stock #

R1522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

188262023-188965041 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 188797814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 3267 (S3267P)

Ref Sequence

ENSEMBL: ENSMUSP00000050454 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060479
AA Change: S3267P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000050454
Gene: ENSMUSG00000026609
AA Change: S3267P

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: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,162,586	S498P	probably damaging	Het
3100002H09Rik	A	G	4: 124,610,694	W22R	probably damaging	Het
AA986860	A	G	1: 130,743,094	E351G	probably damaging	Het
Acsl5	T	C	19: 55,280,492	V195A	probably benign	Het
Adamts10	A	G	17: 33,537,319	D312G	probably benign	Het
Adgrb1	A	G	15: 74,580,617	M211V	probably damaging	Het
Ankfy1	C	T	11: 72,755,867	R859*	probably null	Het
Atp8b1	T	A	18: 64,550,432	I742L	probably benign	Het
B3galnt2	T	A	13: 13,970,769	V89E	probably damaging	Het
BC024978	A	G	7: 27,202,680	H244R	probably damaging	Het
Brinp3	A	C	1: 146,901,890	T692P	probably damaging	Het
C9	T	A	15: 6,486,762	F349I	probably damaging	Het
Cacna1a	T	A	8: 84,633,433	M1976K	probably benign	Het
Ccdc180	T	C	4: 45,927,975	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,931,276	V1846A	probably benign	Het
Ces1f	A	T	8: 93,271,889	Y160N	possibly damaging	Het
Cfap45	A	G	1: 172,540,572	E377G	probably damaging	Het
Clca3a1	T	A	3: 144,755,171	M240L	probably benign	Het
Clnk	G	A	5: 38,794,966	T10M	probably damaging	Het
Cntrl	T	A	2: 35,155,279	I781K	possibly damaging	Het
Col11a2	G	A	17: 34,055,254	G375S	probably damaging	Het
Col6a5	T	A	9: 105,939,994	I373F	unknown	Het
Dmxl1	C	T	18: 49,852,367	A227V	probably benign	Het
Dok5	A	G	2: 170,732,132	N4D	probably benign	Het
Dpysl3	A	T	18: 43,363,557	V138D	probably damaging	Het
Efs	A	T	14: 54,919,715	Y380N	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Farp2	A	G	1: 93,618,553	Q855R	possibly damaging	Het
Fcrls	A	C	3: 87,256,707	S372A	possibly damaging	Het
Gadl1	C	T	9: 115,944,229	A113V	probably damaging	Het
Gatsl2	T	G	5: 134,125,887	S43R	probably damaging	Het
Gda	T	A	19: 21,412,539	E219D	probably benign	Het
Gli1	A	T	10: 127,332,577	M469K	probably damaging	Het
Gm4847	A	T	1: 166,641,650	S148R	probably damaging	Het
Golga2	T	C	2: 32,302,204	V325A	probably benign	Het
Hpf1	A	G	8: 60,896,749	D137G	probably damaging	Het
Htr2a	C	G	14: 74,705,853	S291*	probably null	Het
Itga5	G	A	15: 103,356,782	Q233*	probably null	Het
Jazf1	C	A	6: 52,812,183	R102L	probably damaging	Het
Kif6	T	G	17: 49,714,113	L322R	probably damaging	Het
Ktn1	A	C	14: 47,667,416	K217T	probably damaging	Het
Lig4	A	T	8: 9,973,012	V256E	possibly damaging	Het
Lrp1	G	T	10: 127,567,364	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,575,286	D1399E	probably benign	Het
Mmel1	A	G	4: 154,894,986	E717G	probably damaging	Het
Mndal	G	T	1: 173,871,466	P155H	possibly damaging	Het
Mycbpap	A	G	11: 94,511,623		probably null	Het
Nedd1	T	C	10: 92,719,614	E3G	probably damaging	Het
Nlgn1	A	T	3: 25,435,909	N551K	probably damaging	Het
Nup210	G	A	6: 91,069,166	P595L	possibly damaging	Het
Olfr117	A	T	17: 37,659,770	C188S	probably damaging	Het
Olfr1302	A	T	2: 111,780,348		probably null	Het
Olfr199	T	G	16: 59,215,984	T210P	probably damaging	Het
Olfr477	A	G	7: 107,990,533	H56R	probably benign	Het
Olfr697	A	G	7: 106,741,005	C310R	probably benign	Het
Pank3	G	A	11: 35,781,681	V304M	probably benign	Het
Phf3	G	A	1: 30,805,648	T1410I	probably benign	Het
Ppm1k	A	G	6: 57,525,157	I7T	possibly damaging	Het
Ppp1r12c	T	C	7: 4,497,425	D73G	probably damaging	Het
Prelid2	T	G	18: 41,881,267	M165L	probably benign	Het
Prkd3	A	C	17: 78,952,696	L826R	probably damaging	Het
Ptchd4	A	T	17: 42,503,542	N778I	probably damaging	Het
Ptprm	T	C	17: 66,693,871	D1063G	possibly damaging	Het
Rab27a	C	A	9: 73,075,482	T23N	probably damaging	Het
Rasgrf2	A	T	13: 91,896,086	F949L	probably benign	Het
Rbm33	A	G	5: 28,337,004	N68D	probably damaging	Het
Rgl1	A	T	1: 152,586,533	L109Q	probably damaging	Het
Rnf20	A	G	4: 49,638,197	N103S	possibly damaging	Het
Sbno1	G	A	5: 124,392,612	L875F	probably damaging	Het
Scube1	T	A	15: 83,628,076		probably null	Het
Selenbp1	G	A	3: 94,937,358	V109M	probably damaging	Het
Serpina3c	T	A	12: 104,151,546	I178F	probably damaging	Het
Shisa8	C	T	15: 82,208,501	G63D	probably damaging	Het
Snx14	T	C	9: 88,402,224	R464G	possibly damaging	Het
Snx25	A	T	8: 46,124,082	M1K	probably null	Het
Sorcs3	C	A	19: 48,706,009	T574K	possibly damaging	Het
Syne2	A	G	12: 76,103,783	E6528G	probably damaging	Het
Syt5	T	C	7: 4,540,246	E338G	probably damaging	Het
Tbk1	T	C	10: 121,551,318	K691E	probably benign	Het
Tenm3	G	A	8: 48,395,576	T11I	probably damaging	Het
Thrb	A	G	14: 18,002,597	H87R	probably damaging	Het
Tlr4	T	A	4: 66,839,696	M242K	possibly damaging	Het
Tm4sf19	T	C	16: 32,406,002	M56T	possibly damaging	Het
Tmem212	T	A	3: 27,886,471	R66*	probably null	Het
Tmem39b	G	T	4: 129,684,482	D315E	probably benign	Het
Tnxb	T	C	17: 34,718,638	F3834L	probably damaging	Het
Trim36	A	T	18: 46,186,183	L225*	probably null	Het
Trim42	A	T	9: 97,365,679	H321Q	probably damaging	Het
Trio	G	T	15: 27,732,640	Q3052K	probably benign	Het
Trpm3	T	C	19: 22,978,334	I1091T	probably benign	Het
Tst	T	C	15: 78,399,943	E228G	possibly damaging	Het
Ttn	T	C	2: 76,871,716		probably benign	Het
Uap1	A	C	1: 170,150,941		probably null	Het
Usp5	T	C	6: 124,825,166	T38A	probably benign	Het
Uvssa	A	T	5: 33,387,808	Q84L	probably damaging	Het
Vmn1r159	T	G	7: 22,843,268	H113P	probably damaging	Het
Vps13d	A	T	4: 145,098,172		probably null	Het
Zfp182	T	A	X: 21,031,560	I166L	probably benign	Het
Zfp811	A	T	17: 32,797,648	Y472N	probably damaging	Het

Other mutations in Ush2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ush2a	APN	1	188864678	missense	probably benign	0.00
IGL00391:Ush2a	APN	1	188916061	missense	probably damaging	1.00
IGL00429:Ush2a	APN	1	188400114	nonsense	probably null
IGL00484:Ush2a	APN	1	188782513	missense	probably benign	0.00
IGL00519:Ush2a	APN	1	188444668	missense	probably benign	0.03
IGL00567:Ush2a	APN	1	188964917	missense	probably damaging	1.00
IGL00823:Ush2a	APN	1	188911443	missense	possibly damaging	0.61
IGL00940:Ush2a	APN	1	188357961	nonsense	probably null
IGL00951:Ush2a	APN	1	188263465	missense	probably benign	0.33
IGL00956:Ush2a	APN	1	188753522	missense	probably damaging	0.99
IGL01096:Ush2a	APN	1	188678377	missense	probably damaging	1.00
IGL01108:Ush2a	APN	1	188862825	missense	probably benign	0.00
IGL01315:Ush2a	APN	1	188633614	missense	possibly damaging	0.51
IGL01318:Ush2a	APN	1	188814353	missense	probably benign	0.00
IGL01324:Ush2a	APN	1	188848992	missense	probably benign	0.38
IGL01326:Ush2a	APN	1	188263321	nonsense	probably null
IGL01384:Ush2a	APN	1	188553228	missense	possibly damaging	0.65
IGL01466:Ush2a	APN	1	188911622	missense	probably benign	0.00
IGL01518:Ush2a	APN	1	188399785	missense	probably benign	0.01
IGL01585:Ush2a	APN	1	188430727	missense	probably damaging	1.00
IGL01595:Ush2a	APN	1	188654724	critical splice donor site	probably null
IGL01657:Ush2a	APN	1	188826461	missense	probably benign	0.03
IGL01797:Ush2a	APN	1	188263509	missense	probably damaging	1.00
IGL01802:Ush2a	APN	1	188436957	missense	probably damaging	0.99
IGL01836:Ush2a	APN	1	188759863	splice site	probably benign
IGL01938:Ush2a	APN	1	188797845	missense	probably damaging	1.00
IGL01976:Ush2a	APN	1	188911241	missense	probably benign	0.04
IGL02023:Ush2a	APN	1	188733514	missense	probably benign	0.03
IGL02126:Ush2a	APN	1	188263391	missense	probably benign	0.01
IGL02133:Ush2a	APN	1	188443343	missense	probably damaging	1.00
IGL02147:Ush2a	APN	1	188864703	missense	probably benign
IGL02275:Ush2a	APN	1	188263269	missense	possibly damaging	0.67
IGL02314:Ush2a	APN	1	188633629	missense	probably benign	0.00
IGL02353:Ush2a	APN	1	188728438	missense	probably benign	0.04
IGL02360:Ush2a	APN	1	188728438	missense	probably benign	0.04
IGL02367:Ush2a	APN	1	188784746	missense	probably benign
IGL02402:Ush2a	APN	1	188267108	missense	probably benign	0.02
IGL02410:Ush2a	APN	1	188915997	missense	probably damaging	1.00
IGL02490:Ush2a	APN	1	188810364	missense	probably damaging	1.00
IGL02500:Ush2a	APN	1	188822696	missense	probably damaging	1.00
IGL02511:Ush2a	APN	1	188743687	critical splice donor site	probably null
IGL02517:Ush2a	APN	1	188915998	missense	probably damaging	1.00
IGL02536:Ush2a	APN	1	188957266	critical splice acceptor site	probably null
IGL02585:Ush2a	APN	1	188728333	missense	probably benign	0.00
IGL02610:Ush2a	APN	1	188444466	missense	probably damaging	0.98
IGL02677:Ush2a	APN	1	188734685	missense	probably damaging	1.00
IGL02691:Ush2a	APN	1	188734752	missense	probably damaging	1.00
IGL02740:Ush2a	APN	1	188648388	missense	possibly damaging	0.68
IGL02744:Ush2a	APN	1	188358717	splice site	probably null
IGL02749:Ush2a	APN	1	188946958	missense	probably damaging	0.99
IGL02806:Ush2a	APN	1	188810357	nonsense	probably null
IGL02870:Ush2a	APN	1	188678358	missense	probably benign	0.42
IGL02894:Ush2a	APN	1	188451846	missense	probably damaging	1.00
IGL02904:Ush2a	APN	1	188906506	missense	probably benign	0.06
IGL03000:Ush2a	APN	1	188549856	missense	possibly damaging	0.81
IGL03015:Ush2a	APN	1	188436950	missense	probably benign	0.01
IGL03036:Ush2a	APN	1	188864621	missense	possibly damaging	0.80
IGL03057:Ush2a	APN	1	188797838	missense	probably damaging	1.00
IGL03230:Ush2a	APN	1	188466193	missense	probably benign	0.09
IGL03278:Ush2a	APN	1	188849116	missense	probably damaging	1.00
BB003:Ush2a	UTSW	1	188728600	missense	probably benign
BB013:Ush2a	UTSW	1	188728600	missense	probably benign
PIT4283001:Ush2a	UTSW	1	188436867	missense	probably benign	0.01
R0003:Ush2a	UTSW	1	188578491	missense	probably damaging	0.99
R0030:Ush2a	UTSW	1	188822657	missense	possibly damaging	0.51
R0035:Ush2a	UTSW	1	188356888	missense	probably benign
R0038:Ush2a	UTSW	1	188626612	missense	probably benign	0.00
R0038:Ush2a	UTSW	1	188626612	missense	probably benign	0.00
R0067:Ush2a	UTSW	1	188964846	missense	probably damaging	0.99
R0067:Ush2a	UTSW	1	188964846	missense	probably damaging	0.99
R0103:Ush2a	UTSW	1	188319070	missense	possibly damaging	0.81
R0103:Ush2a	UTSW	1	188319070	missense	possibly damaging	0.81
R0122:Ush2a	UTSW	1	188948455	missense	possibly damaging	0.65
R0206:Ush2a	UTSW	1	188531761	missense	probably damaging	0.99
R0208:Ush2a	UTSW	1	188531761	missense	probably damaging	0.99
R0230:Ush2a	UTSW	1	188850104	missense	probably damaging	1.00
R0269:Ush2a	UTSW	1	188810176	missense	probably benign	0.33
R0319:Ush2a	UTSW	1	188948374	splice site	probably benign
R0358:Ush2a	UTSW	1	188537780	missense	possibly damaging	0.83
R0379:Ush2a	UTSW	1	188451819	missense	probably damaging	1.00
R0427:Ush2a	UTSW	1	188400281	missense	probably damaging	1.00
R0437:Ush2a	UTSW	1	188911031	missense	probably benign	0.00
R0462:Ush2a	UTSW	1	188910939	missense	probably benign
R0510:Ush2a	UTSW	1	188734663	splice site	probably benign
R0531:Ush2a	UTSW	1	188443181	missense	probably benign	0.18
R0541:Ush2a	UTSW	1	188714466	splice site	probably benign
R0549:Ush2a	UTSW	1	188946953	missense	probably damaging	0.99
R0562:Ush2a	UTSW	1	188356847	missense	probably damaging	1.00
R0636:Ush2a	UTSW	1	188822738	missense	probably benign
R0662:Ush2a	UTSW	1	188351093	missense	probably benign	0.26
R0685:Ush2a	UTSW	1	188400278	missense	probably damaging	1.00
R0718:Ush2a	UTSW	1	188797830	missense	probably damaging	1.00
R0725:Ush2a	UTSW	1	188951525	missense	probably damaging	1.00
R0735:Ush2a	UTSW	1	188864693	missense	probably benign	0.04
R0744:Ush2a	UTSW	1	188814406	splice site	probably benign
R0765:Ush2a	UTSW	1	188948574	missense	possibly damaging	0.67
R0862:Ush2a	UTSW	1	188542818	nonsense	probably null
R1067:Ush2a	UTSW	1	188550207	missense	probably benign	0.35
R1072:Ush2a	UTSW	1	188728717	missense	possibly damaging	0.91
R1099:Ush2a	UTSW	1	188648348	missense	probably benign	0.06
R1099:Ush2a	UTSW	1	188864639	missense	probably damaging	1.00
R1104:Ush2a	UTSW	1	188916256	missense	probably benign
R1106:Ush2a	UTSW	1	188910983	missense	possibly damaging	0.82
R1124:Ush2a	UTSW	1	188753536	missense	probably damaging	0.99
R1168:Ush2a	UTSW	1	188678411	missense	probably benign	0.01
R1199:Ush2a	UTSW	1	188759795	missense	probably benign	0.00
R1215:Ush2a	UTSW	1	188957282	missense	possibly damaging	0.66
R1307:Ush2a	UTSW	1	188357967	missense	probably damaging	1.00
R1307:Ush2a	UTSW	1	188451840	missense	probably damaging	1.00
R1311:Ush2a	UTSW	1	188947145	missense	possibly damaging	0.86
R1388:Ush2a	UTSW	1	188523318	splice site	probably benign
R1416:Ush2a	UTSW	1	188436883	missense	probably damaging	1.00
R1424:Ush2a	UTSW	1	188542878	critical splice donor site	probably null
R1459:Ush2a	UTSW	1	188862851	missense	probably benign	0.05
R1470:Ush2a	UTSW	1	188400206	missense	probably benign	0.00
R1470:Ush2a	UTSW	1	188400206	missense	probably benign	0.00
R1477:Ush2a	UTSW	1	188849076	missense	probably benign	0.05
R1484:Ush2a	UTSW	1	188810337	nonsense	probably null
R1490:Ush2a	UTSW	1	188359841	missense	probably benign	0.24
R1510:Ush2a	UTSW	1	188648304	missense	probably damaging	1.00
R1606:Ush2a	UTSW	1	188759766	missense	probably benign	0.17
R1618:Ush2a	UTSW	1	188814224	missense	probably benign	0.29
R1636:Ush2a	UTSW	1	188466176	missense	possibly damaging	0.53
R1646:Ush2a	UTSW	1	188415821	missense	probably damaging	1.00
R1660:Ush2a	UTSW	1	188916064	missense	probably benign
R1676:Ush2a	UTSW	1	188728585	missense	probably damaging	1.00
R1704:Ush2a	UTSW	1	188821796	missense	probably damaging	1.00
R1705:Ush2a	UTSW	1	188874869	missense	probably damaging	1.00
R1705:Ush2a	UTSW	1	188911541	missense	probably benign	0.40
R1760:Ush2a	UTSW	1	188910983	missense	possibly damaging	0.82
R1776:Ush2a	UTSW	1	188728203	missense	possibly damaging	0.83
R1782:Ush2a	UTSW	1	188911185	missense	probably benign	0.06
R1794:Ush2a	UTSW	1	188862809	missense	probably benign	0.00
R1796:Ush2a	UTSW	1	188910827	missense	probably benign	0.11
R1804:Ush2a	UTSW	1	188633729	critical splice donor site	probably null
R1835:Ush2a	UTSW	1	188451818	missense	probably benign	0.13
R1871:Ush2a	UTSW	1	188826468	missense	probably benign	0.02
R1876:Ush2a	UTSW	1	188678289	missense	possibly damaging	0.51
R1887:Ush2a	UTSW	1	188399980	missense	probably benign	0.05
R1896:Ush2a	UTSW	1	188550009	missense	probably benign	0.00
R1907:Ush2a	UTSW	1	188715064	missense	probably benign	0.01
R1940:Ush2a	UTSW	1	188951561	missense	probably null	0.89
R1950:Ush2a	UTSW	1	188755185	missense	probably damaging	1.00
R1991:Ush2a	UTSW	1	188578532	splice site	probably benign
R2043:Ush2a	UTSW	1	188916256	missense	probably benign	0.00
R2046:Ush2a	UTSW	1	188356927	missense	probably benign	0.01
R2059:Ush2a	UTSW	1	188381549	critical splice donor site	probably null
R2239:Ush2a	UTSW	1	188576214	missense	probably benign
R2365:Ush2a	UTSW	1	188378991	missense	possibly damaging	0.68
R2395:Ush2a	UTSW	1	188947040	missense	probably damaging	1.00
R2425:Ush2a	UTSW	1	188537804	missense	possibly damaging	0.82
R2519:Ush2a	UTSW	1	188267107	missense	probably benign
R3039:Ush2a	UTSW	1	188911547	missense	probably damaging	0.99
R3434:Ush2a	UTSW	1	188733758	missense	probably damaging	1.00
R3711:Ush2a	UTSW	1	188810292	missense	probably benign	0.05
R3712:Ush2a	UTSW	1	188810292	missense	probably benign	0.05
R3732:Ush2a	UTSW	1	188944760	missense	probably benign	0.16
R3746:Ush2a	UTSW	1	188810292	missense	probably benign	0.05
R3747:Ush2a	UTSW	1	188810292	missense	probably benign	0.05
R3883:Ush2a	UTSW	1	188263382	missense	probably benign
R3911:Ush2a	UTSW	1	188399954	missense	probably benign	0.05
R3934:Ush2a	UTSW	1	188263511	critical splice donor site	probably null
R3946:Ush2a	UTSW	1	188728504	missense	probably benign	0.01
R3974:Ush2a	UTSW	1	188381501	missense	probably benign	0.06
R4158:Ush2a	UTSW	1	188728710	missense	probably damaging	1.00
R4159:Ush2a	UTSW	1	188728710	missense	probably damaging	1.00
R4161:Ush2a	UTSW	1	188728710	missense	probably damaging	1.00
R4162:Ush2a	UTSW	1	188743680	missense	probably benign	0.00
R4255:Ush2a	UTSW	1	188759843	nonsense	probably null
R4280:Ush2a	UTSW	1	188578461	missense	probably benign	0.16
R4387:Ush2a	UTSW	1	188443431	missense	probably benign	0.00
R4416:Ush2a	UTSW	1	188356874	missense	probably damaging	0.97
R4494:Ush2a	UTSW	1	188553276	missense	possibly damaging	0.50
R4505:Ush2a	UTSW	1	188728596	missense	possibly damaging	0.92
R4522:Ush2a	UTSW	1	188864625	missense	probably damaging	1.00
R4584:Ush2a	UTSW	1	188451798	missense	probably benign	0.00
R4599:Ush2a	UTSW	1	188911647	missense	probably benign	0.01
R4605:Ush2a	UTSW	1	188910801	missense	probably damaging	1.00
R4632:Ush2a	UTSW	1	188395874	missense	possibly damaging	0.82
R4688:Ush2a	UTSW	1	188399941	missense	probably benign	0.01
R4751:Ush2a	UTSW	1	188850087	missense	probably damaging	0.98
R4770:Ush2a	UTSW	1	188549879	missense	probably benign	0.25
R4771:Ush2a	UTSW	1	188797769	missense	possibly damaging	0.92
R4798:Ush2a	UTSW	1	188743545	missense	probably damaging	1.00
R4821:Ush2a	UTSW	1	188753651	missense	probably benign	0.32
R4857:Ush2a	UTSW	1	188537720	missense	probably benign	0.01
R4860:Ush2a	UTSW	1	188553275	missense	probably benign	0.07
R4860:Ush2a	UTSW	1	188553275	missense	probably benign	0.07
R4898:Ush2a	UTSW	1	188626608	missense	probably benign	0.37
R4993:Ush2a	UTSW	1	188910720	missense	probably benign	0.03
R5035:Ush2a	UTSW	1	188910808	missense	probably damaging	1.00
R5061:Ush2a	UTSW	1	188957274	missense	probably benign	0.03
R5150:Ush2a	UTSW	1	188451870	missense	possibly damaging	0.95
R5205:Ush2a	UTSW	1	188874936	missense	probably benign	0.21
R5212:Ush2a	UTSW	1	188444705	critical splice donor site	probably null
R5252:Ush2a	UTSW	1	188821717	missense	possibly damaging	0.83
R5260:Ush2a	UTSW	1	188947079	missense	possibly damaging	0.95
R5304:Ush2a	UTSW	1	188356798	missense	probably damaging	0.99
R5323:Ush2a	UTSW	1	188821677	critical splice acceptor site	probably null
R5330:Ush2a	UTSW	1	188728381	missense	probably benign	0.00
R5331:Ush2a	UTSW	1	188728381	missense	probably benign	0.00
R5332:Ush2a	UTSW	1	188351079	missense	probably damaging	1.00
R5371:Ush2a	UTSW	1	188443070	missense	probably benign	0.00
R5374:Ush2a	UTSW	1	188755206	missense	probably benign
R5377:Ush2a	UTSW	1	188912123	missense	probably benign	0.00
R5525:Ush2a	UTSW	1	188753606	missense	probably benign	0.01
R5558:Ush2a	UTSW	1	188797827	missense	possibly damaging	0.47
R5562:Ush2a	UTSW	1	188576217	missense	probably damaging	1.00
R5595:Ush2a	UTSW	1	188906498	missense	possibly damaging	0.95
R5620:Ush2a	UTSW	1	188759823	missense	possibly damaging	0.82
R5714:Ush2a	UTSW	1	188400257	missense	probably benign	0.00
R5743:Ush2a	UTSW	1	188436962	missense	probably benign	0.01
R5779:Ush2a	UTSW	1	188443510	critical splice donor site	probably null
R5795:Ush2a	UTSW	1	188443397	missense	probably benign	0.34
R5897:Ush2a	UTSW	1	188821738	missense	probably damaging	1.00
R5918:Ush2a	UTSW	1	188356814	missense	probably benign	0.26
R6000:Ush2a	UTSW	1	188267026	nonsense	probably null
R6014:Ush2a	UTSW	1	188850040	missense	probably damaging	0.98
R6017:Ush2a	UTSW	1	188957514	critical splice donor site	probably null
R6020:Ush2a	UTSW	1	188728096	splice site	probably null
R6039:Ush2a	UTSW	1	188319020	missense	possibly damaging	0.76
R6039:Ush2a	UTSW	1	188319020	missense	possibly damaging	0.76
R6050:Ush2a	UTSW	1	188957324	missense	probably benign	0.06
R6083:Ush2a	UTSW	1	188267023	missense	probably damaging	1.00
R6091:Ush2a	UTSW	1	188399803	missense	probably damaging	1.00
R6120:Ush2a	UTSW	1	188358603	missense	probably benign	0.04
R6135:Ush2a	UTSW	1	188912106	missense	possibly damaging	0.68
R6141:Ush2a	UTSW	1	188357963	missense	possibly damaging	0.71
R6157:Ush2a	UTSW	1	188728270	missense	probably benign	0.00
R6180:Ush2a	UTSW	1	188399871	nonsense	probably null
R6191:Ush2a	UTSW	1	188263101	nonsense	probably null
R6217:Ush2a	UTSW	1	188743454	splice site	probably null
R6263:Ush2a	UTSW	1	188358642	missense	probably damaging	1.00
R6294:Ush2a	UTSW	1	188536370	missense	possibly damaging	0.49
R6320:Ush2a	UTSW	1	188356846	missense	probably benign	0.01
R6321:Ush2a	UTSW	1	188849046	nonsense	probably null
R6347:Ush2a	UTSW	1	188910887	missense	probably benign
R6382:Ush2a	UTSW	1	188814302	missense	probably benign	0.01
R6408:Ush2a	UTSW	1	188267032	nonsense	probably null
R6418:Ush2a	UTSW	1	188628566	missense	probably damaging	1.00
R6500:Ush2a	UTSW	1	188841527	missense	probably benign	0.00
R6504:Ush2a	UTSW	1	188911247	missense	probably benign	0.00
R6534:Ush2a	UTSW	1	188451802	nonsense	probably null
R6594:Ush2a	UTSW	1	188910798	missense	possibly damaging	0.93
R6612:Ush2a	UTSW	1	188911397	missense	possibly damaging	0.91
R6645:Ush2a	UTSW	1	188523331	missense	probably damaging	0.99
R6658:Ush2a	UTSW	1	188814359	missense	possibly damaging	0.95
R6726:Ush2a	UTSW	1	188753684	missense	possibly damaging	0.85
R6755:Ush2a	UTSW	1	188443219	missense	possibly damaging	0.95
R6782:Ush2a	UTSW	1	188356834	missense	probably benign
R6817:Ush2a	UTSW	1	188862864	missense	probably benign	0.03
R6834:Ush2a	UTSW	1	188356792	missense	probably damaging	1.00
R6851:Ush2a	UTSW	1	188533205	missense	probably benign	0.06
R6853:Ush2a	UTSW	1	188911237	nonsense	probably null
R6867:Ush2a	UTSW	1	188910973	missense	probably damaging	1.00
R6889:Ush2a	UTSW	1	188797871	missense	probably damaging	1.00
R6931:Ush2a	UTSW	1	188728383	missense	probably benign	0.01
R6953:Ush2a	UTSW	1	188263145	missense	possibly damaging	0.94
R6966:Ush2a	UTSW	1	188576244	missense	probably damaging	1.00
R7109:Ush2a	UTSW	1	188381484	missense	probably benign	0.19
R7153:Ush2a	UTSW	1	188728484	missense	possibly damaging	0.93
R7176:Ush2a	UTSW	1	188537728	missense	probably benign	0.00
R7182:Ush2a	UTSW	1	188753543	missense	probably benign	0.01
R7201:Ush2a	UTSW	1	188874754	missense	probably benign
R7223:Ush2a	UTSW	1	188810217	missense	probably benign	0.09
R7231:Ush2a	UTSW	1	188759763	missense	possibly damaging	0.49
R7240:Ush2a	UTSW	1	188911661	missense	possibly damaging	0.83
R7263:Ush2a	UTSW	1	188443329	missense	possibly damaging	0.94
R7329:Ush2a	UTSW	1	188553198	missense	probably damaging	0.97
R7343:Ush2a	UTSW	1	188415746	missense	probably benign	0.00
R7352:Ush2a	UTSW	1	188466124	missense	probably benign	0.04
R7384:Ush2a	UTSW	1	188400163	missense	probably damaging	0.99
R7391:Ush2a	UTSW	1	188962008	small deletion	probably benign
R7394:Ush2a	UTSW	1	188911416	missense	possibly damaging	0.83
R7403:Ush2a	UTSW	1	188633727	missense	probably damaging	1.00
R7408:Ush2a	UTSW	1	188733529	missense	probably benign	0.00
R7453:Ush2a	UTSW	1	188553111	missense	probably damaging	1.00
R7496:Ush2a	UTSW	1	188351087	missense	possibly damaging	0.50
R7552:Ush2a	UTSW	1	188267044	missense	possibly damaging	0.65
R7556:Ush2a	UTSW	1	188957493	missense	probably benign	0.31
R7575:Ush2a	UTSW	1	188822688	missense	possibly damaging	0.90
R7578:Ush2a	UTSW	1	188549913	missense	probably damaging	1.00
R7584:Ush2a	UTSW	1	188728109	critical splice acceptor site	probably null
R7589:Ush2a	UTSW	1	188542849	missense	probably benign	0.00
R7602:Ush2a	UTSW	1	188648409	missense	probably damaging	1.00
R7670:Ush2a	UTSW	1	188784708	missense	possibly damaging	0.78
R7743:Ush2a	UTSW	1	188810179	missense	probably benign	0.05
R7753:Ush2a	UTSW	1	188443406	missense	probably benign	0.28
R7767:Ush2a	UTSW	1	188553260	missense	probably benign	0.01
R7784:Ush2a	UTSW	1	188444592	missense	possibly damaging	0.55
R7831:Ush2a	UTSW	1	188759841	missense	probably damaging	0.98
R7834:Ush2a	UTSW	1	188733440	nonsense	probably null
R7847:Ush2a	UTSW	1	188430808	missense	probably damaging	1.00
R7926:Ush2a	UTSW	1	188728600	missense	probably benign
R7969:Ush2a	UTSW	1	188826371	missense	probably benign	0.02
R7978:Ush2a	UTSW	1	188399938	missense	probably benign	0.00
R7990:Ush2a	UTSW	1	188542799	missense	probably benign	0.00
R8001:Ush2a	UTSW	1	188911064	missense	probably damaging	0.98
R8039:Ush2a	UTSW	1	188957373	missense	probably damaging	1.00
R8077:Ush2a	UTSW	1	188542828	missense	probably benign	0.01
R8165:Ush2a	UTSW	1	188451755	missense	possibly damaging	0.70
R8208:Ush2a	UTSW	1	188874793	missense	possibly damaging	0.95
R8220:Ush2a	UTSW	1	188728666	missense	probably damaging	1.00
R8270:Ush2a	UTSW	1	188444641	missense	probably benign	0.06
R8316:Ush2a	UTSW	1	188446702	missense	probably benign	0.01
R8347:Ush2a	UTSW	1	188947084	missense	probably benign	0.02
R8360:Ush2a	UTSW	1	188466271	missense	probably benign	0.01
R8362:Ush2a	UTSW	1	188957453	missense	probably damaging	0.96
R8386:Ush2a	UTSW	1	188728206	missense	possibly damaging	0.80
R8401:Ush2a	UTSW	1	188542865	missense	probably benign	0.10
R8439:Ush2a	UTSW	1	188850057	missense	probably damaging	1.00
R8465:Ush2a	UTSW	1	188415678	missense	probably damaging	1.00
R8478:Ush2a	UTSW	1	188443232	missense	possibly damaging	0.83
R8540:Ush2a	UTSW	1	188542661	missense	probably benign	0.00
R8684:Ush2a	UTSW	1	188911023	missense	possibly damaging	0.45
R8685:Ush2a	UTSW	1	188466204	missense	probably damaging	1.00
R8699:Ush2a	UTSW	1	188911377	missense	probably damaging	1.00
R8720:Ush2a	UTSW	1	188358518	missense	probably benign	0.05
R8754:Ush2a	UTSW	1	188848965	nonsense	probably null
R8756:Ush2a	UTSW	1	188911944	missense	possibly damaging	0.91
R8788:Ush2a	UTSW	1	188743619	nonsense	probably null
R8803:Ush2a	UTSW	1	188944801	missense	probably benign
R8817:Ush2a	UTSW	1	188263034	start codon destroyed	probably benign	0.00
R8837:Ush2a	UTSW	1	188753650	missense	probably benign
R8880:Ush2a	UTSW	1	188728536	missense	probably benign	0.11
R8902:Ush2a	UTSW	1	188443084	missense	probably damaging	0.98
R8918:Ush2a	UTSW	1	188537820	missense	possibly damaging	0.85
R8940:Ush2a	UTSW	1	188400308	missense	probably benign	0.02
R8968:Ush2a	UTSW	1	188395759	missense	probably damaging	1.00
R8995:Ush2a	UTSW	1	188444653	missense	probably damaging	0.98
R9011:Ush2a	UTSW	1	188906479	missense	probably damaging	0.99
R9037:Ush2a	UTSW	1	188263290	missense	possibly damaging	0.51
R9063:Ush2a	UTSW	1	188263260	missense	probably benign	0.00
R9089:Ush2a	UTSW	1	188755177	nonsense	probably null
R9096:Ush2a	UTSW	1	188466136	missense	probably benign	0.00
R9118:Ush2a	UTSW	1	188654642	missense	probably damaging	0.98
R9174:Ush2a	UTSW	1	188728219	missense	probably damaging	0.99
R9210:Ush2a	UTSW	1	188784669	missense	probably null	0.01
R9242:Ush2a	UTSW	1	188633590	missense	probably damaging	1.00
R9321:Ush2a	UTSW	1	188356951	missense	probably damaging	0.97
R9338:Ush2a	UTSW	1	188576292	critical splice donor site	probably null
R9357:Ush2a	UTSW	1	188874950	missense	probably benign	0.01
R9358:Ush2a	UTSW	1	188874950	missense	probably benign	0.01
R9406:Ush2a	UTSW	1	188263449	missense	probably benign	0.00
R9407:Ush2a	UTSW	1	188911848	missense	probably damaging	1.00
R9428:Ush2a	UTSW	1	188443119	missense	probably damaging	1.00
R9456:Ush2a	UTSW	1	188826392	missense	probably benign	0.00
R9507:Ush2a	UTSW	1	188864740	nonsense	probably null
R9509:Ush2a	UTSW	1	188916243	missense	probably damaging	1.00
R9512:Ush2a	UTSW	1	188910963	missense	probably damaging	0.99
R9564:Ush2a	UTSW	1	188536354	missense	possibly damaging	0.90
R9612:Ush2a	UTSW	1	188359866	nonsense	probably null
R9670:Ush2a	UTSW	1	188628571	missense	probably benign	0.03
R9684:Ush2a	UTSW	1	188399881	missense	possibly damaging	0.67
R9798:Ush2a	UTSW	1	188911805	missense	possibly damaging	0.80
RF017:Ush2a	UTSW	1	188263469	missense	probably damaging	1.00
U24488:Ush2a	UTSW	1	188430766	missense	probably damaging	0.99
X0011:Ush2a	UTSW	1	188318969	missense	probably benign	0.00
X0024:Ush2a	UTSW	1	188400282	missense	probably damaging	1.00
X0026:Ush2a	UTSW	1	188319025	missense	possibly damaging	0.94
X0062:Ush2a	UTSW	1	188549854	missense	probably damaging	1.00
Y4340:Ush2a	UTSW	1	188743629	missense	possibly damaging	0.87
Y4341:Ush2a	UTSW	1	188743629	missense	possibly damaging	0.87
Z1088:Ush2a	UTSW	1	188911983	missense	probably benign
Z1088:Ush2a	UTSW	1	188947004	missense	probably benign	0.26
Z1176:Ush2a	UTSW	1	188356841	missense	probably damaging	1.00
Z1177:Ush2a	UTSW	1	188733544	missense	probably benign	0.00
Z1177:Ush2a	UTSW	1	188912210	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- TGGCTTATGTGCTGCATAGCCAAAG -3'
(R):5'- AAGGGGTCTTACCTGGGAGGTAAC -3'

Sequencing Primer
(F):5'- CAGCACAAAGTCATGTTGGTC -3'
(R):5'- GGAGGTAACTGTATACCATGCCC -3'

Posted On

2014-04-13