Mutagenetix > Incidental Mutation

Incidental Mutation 'R5468:Qrich2'

433367

Institutional Source

Beutler Lab

Gene Symbol

Qrich2

Ensembl Gene

ENSMUSG00000070331

Gene Name

glutamine rich 2

Synonyms

LOC217341

MMRRC Submission

043029-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R5468 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116441325-116466241 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116448365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1777 (T1777S)

Ref Sequence

ENSEMBL: ENSMUSP00000147009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093909] [ENSMUST00000208602]

AlphaFold

Q3V2A7

Predicted Effect

probably benign
Transcript: ENSMUST00000093909
AA Change: T32S

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000091437
Gene: ENSMUSG00000070331
AA Change: T32S

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC
Pfam:DUF4795	97	304	3.7e-71	PFAM
low complexity region	471	491	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134182

SMART Domains

Protein: ENSMUSP00000115947
Gene: ENSMUSG00000070331

Domain	Start	End	E-Value	Type
Blast:MYSc	1	287	4e-80	BLAST
coiled coil region	336	351	N/A	INTRINSIC
low complexity region	602	622	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140697

Predicted Effect

probably damaging
Transcript: ENSMUST00000208602
AA Change: T1777S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.2%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	C	T	7: 44,360,235 (GRCm38)	R181Q	probably damaging	Het
Abca13	T	A	11: 9,294,062 (GRCm38)	L1975Q	probably damaging	Het
Acp2	T	A	2: 91,206,098 (GRCm38)	I180N	probably benign	Het
Adam12	T	C	7: 133,975,473 (GRCm38)	D221G	probably damaging	Het
Adamts4	A	G	1: 171,252,609 (GRCm38)	T244A	probably benign	Het
Adrb2	A	T	18: 62,179,625 (GRCm38)	I43N	probably damaging	Het
Anxa1	A	T	19: 20,378,483 (GRCm38)	Y207N	probably damaging	Het
Apba2	T	C	7: 64,745,762 (GRCm38)	L662P	probably damaging	Het
Arhgap18	T	A	10: 26,912,671 (GRCm38)	I593K	probably damaging	Het
Arsj	T	C	3: 126,438,388 (GRCm38)	V261A	possibly damaging	Het
Atp7b	A	T	8: 22,059,970 (GRCm38)		probably null	Het
C2cd2	C	T	16: 97,868,591 (GRCm38)		probably null	Het
C530008M17Rik	A	T	5: 76,840,763 (GRCm38)		probably benign	Het
Cenpf	A	T	1: 189,652,371 (GRCm38)	S2571T	probably damaging	Het
Cep162	A	C	9: 87,227,237 (GRCm38)	L438V	probably benign	Het
Cfap74	A	T	4: 155,426,041 (GRCm38)	N361I	probably benign	Het
Cntn5	A	G	9: 9,743,628 (GRCm38)	I548T	probably damaging	Het
Dglucy	A	G	12: 100,850,335 (GRCm38)	N382S	probably benign	Het
Dnah10	C	A	5: 124,830,493 (GRCm38)	N4306K	probably damaging	Het
Fam181a	A	T	12: 103,316,678 (GRCm38)	M281L	probably benign	Het
Fam186b	A	G	15: 99,278,870 (GRCm38)	I713T	possibly damaging	Het
Fetub	C	T	16: 22,932,331 (GRCm38)	R143C	probably damaging	Het
Fry	A	T	5: 150,399,588 (GRCm38)	Y1068F	probably benign	Het
Fubp3	A	G	2: 31,603,235 (GRCm38)	I231V	probably benign	Het
Gbf1	A	G	19: 46,284,296 (GRCm38)	D1681G	possibly damaging	Het
Gm10999	G	A	8: 129,131,649 (GRCm38)	P5S	probably damaging	Het
Gm12689	T	C	4: 99,296,165 (GRCm38)	I85T	unknown	Het
Impg1	T	C	9: 80,465,265 (GRCm38)	I9V	probably benign	Het
Lama4	A	G	10: 39,072,682 (GRCm38)		probably null	Het
Lamc1	A	G	1: 153,233,564 (GRCm38)	S1161P	probably damaging	Het
Lipm	T	A	19: 34,109,554 (GRCm38)		probably null	Het
Lrrc7	G	T	3: 158,318,436 (GRCm38)	N107K	probably damaging	Het
Lypd8	T	C	11: 58,386,760 (GRCm38)	S123P	probably damaging	Het
Man2a2	T	C	7: 80,352,981 (GRCm38)	D1084G	probably damaging	Het
Man2b2	A	G	5: 36,807,175 (GRCm38)	S1000P	probably benign	Het
Ms4a7	C	T	19: 11,322,414 (GRCm38)	C71Y	probably benign	Het
Mtus1	A	G	8: 41,084,578 (GRCm38)	S34P	probably benign	Het
Myo3b	A	G	2: 70,234,441 (GRCm38)	N406S	probably benign	Het
Nbr1	A	T	11: 101,572,464 (GRCm38)	M586L	probably benign	Het
Nfatc1	C	T	18: 80,649,855 (GRCm38)	R677H	probably benign	Het
Nlrc3	A	C	16: 3,964,035 (GRCm38)	S503R	probably damaging	Het
Nlrp9c	A	T	7: 26,365,000 (GRCm38)	F968I	probably benign	Het
Olfr340	A	T	2: 36,453,443 (GRCm38)	N286I	probably damaging	Het
Olfr881	G	A	9: 37,993,011 (GRCm38)	C168Y	probably damaging	Het
Olfr951	A	G	9: 39,393,961 (GRCm38)	N57D	probably benign	Het
Onecut1	A	T	9: 74,863,332 (GRCm38)	T346S	probably damaging	Het
Pclo	A	T	5: 14,680,952 (GRCm38)	K3156M	unknown	Het
Pigo	C	T	4: 43,024,562 (GRCm38)		probably null	Het
Plcb4	T	C	2: 135,967,152 (GRCm38)	F580S	probably damaging	Het
Plekhm2	G	T	4: 141,628,100 (GRCm38)	P879H	probably damaging	Het
Ppm1e	T	A	11: 87,230,890 (GRCm38)	Y747F	probably benign	Het
Ppwd1	A	G	13: 104,225,444 (GRCm38)	F69L	possibly damaging	Het
Prss27	C	A	17: 24,038,313 (GRCm38)	Q3K	possibly damaging	Het
Prss29	T	A	17: 25,321,046 (GRCm38)	N139K	possibly damaging	Het
Rbp3	A	T	14: 33,956,627 (GRCm38)	H844L	possibly damaging	Het
Rubcnl	G	A	14: 75,032,031 (GRCm38)	C43Y	possibly damaging	Het
Sec14l5	A	G	16: 5,167,140 (GRCm38)		probably null	Het
Sepsecs	A	T	5: 52,644,014 (GRCm38)	N435K	probably damaging	Het
Sfrp1	A	G	8: 23,446,210 (GRCm38)	K223E	probably benign	Het
Sh3tc2	G	A	18: 61,973,431 (GRCm38)		probably null	Het
Slc35e2	C	T	4: 155,610,026 (GRCm38)	P10L	probably benign	Het
Tmprss7	A	G	16: 45,656,448 (GRCm38)	F817S	probably damaging	Het
Tril	T	C	6: 53,819,647 (GRCm38)	N197D	probably damaging	Het
Tspan18	T	C	2: 93,209,862 (GRCm38)	T183A	probably benign	Het
Uroc1	A	T	6: 90,338,604 (GRCm38)	M156L	probably benign	Het
Wnt16	T	C	6: 22,291,161 (GRCm38)	V196A	probably benign	Het
Xpnpep1	A	G	19: 52,995,519 (GRCm38)	Y592H	probably benign	Het
Zfp553	T	C	7: 127,237,030 (GRCm38)	S586P	probably benign	Het
Zfp619	C	T	7: 39,535,728 (GRCm38)	A394V	unknown	Het
Zfp985	A	G	4: 147,583,245 (GRCm38)	Y190C	probably benign	Het
Zmynd10	T	A	9: 107,550,337 (GRCm38)	D309E	probably benign	Het
Zmynd15	T	C	11: 70,461,820 (GRCm38)	L73P	probably damaging	Het

Other mutations in Qrich2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4449:Qrich2	UTSW	11	116,456,199 (GRCm38)	small deletion	probably benign
R0122:Qrich2	UTSW	11	116,446,813 (GRCm38)	missense	possibly damaging	0.61
R0157:Qrich2	UTSW	11	116,441,395 (GRCm38)	missense	probably damaging	1.00
R1479:Qrich2	UTSW	11	116,441,485 (GRCm38)	missense	probably benign	0.08
R1786:Qrich2	UTSW	11	116,441,449 (GRCm38)	missense	probably damaging	1.00
R2115:Qrich2	UTSW	11	116,447,156 (GRCm38)	missense	probably damaging	0.99
R2130:Qrich2	UTSW	11	116,448,417 (GRCm38)	splice site	probably benign
R2178:Qrich2	UTSW	11	116,443,777 (GRCm38)	missense	probably damaging	1.00
R3875:Qrich2	UTSW	11	116,445,651 (GRCm38)	missense	probably damaging	0.98
R4378:Qrich2	UTSW	11	116,446,915 (GRCm38)	missense	probably damaging	1.00
R5124:Qrich2	UTSW	11	116,446,773 (GRCm38)	missense	probably damaging	1.00
R5362:Qrich2	UTSW	11	116,447,150 (GRCm38)	missense	probably damaging	1.00
R5493:Qrich2	UTSW	11	116,445,948 (GRCm38)	critical splice donor site	probably null
R5589:Qrich2	UTSW	11	116,441,408 (GRCm38)	missense	probably damaging	1.00
R5696:Qrich2	UTSW	11	116,445,002 (GRCm38)	missense	probably damaging	1.00
R6046:Qrich2	UTSW	11	116,447,006 (GRCm38)	intron	probably benign
R6183:Qrich2	UTSW	11	116,458,129 (GRCm38)	unclassified	probably benign
R6193:Qrich2	UTSW	11	116,454,153 (GRCm38)	missense	probably benign	0.07
R6211:Qrich2	UTSW	11	116,453,542 (GRCm38)	missense	probably benign	0.41
R6375:Qrich2	UTSW	11	116,458,228 (GRCm38)	unclassified	probably benign
R6452:Qrich2	UTSW	11	116,455,888 (GRCm38)	missense	probably benign	0.01
R6870:Qrich2	UTSW	11	116,455,330 (GRCm38)	missense	probably damaging	0.96
R7073:Qrich2	UTSW	11	116,446,875 (GRCm38)	missense	probably damaging	0.98
R7552:Qrich2	UTSW	11	116,456,254 (GRCm38)	missense	possibly damaging	0.63
R7585:Qrich2	UTSW	11	116,455,721 (GRCm38)	missense	probably benign	0.00
R7586:Qrich2	UTSW	11	116,455,624 (GRCm38)	missense	probably benign	0.43
R7588:Qrich2	UTSW	11	116,465,937 (GRCm38)	missense	possibly damaging	0.53
R7633:Qrich2	UTSW	11	116,456,629 (GRCm38)	missense	unknown
R7638:Qrich2	UTSW	11	116,455,322 (GRCm38)	missense	probably benign	0.00
R7736:Qrich2	UTSW	11	116,457,541 (GRCm38)	small deletion	probably benign
R7737:Qrich2	UTSW	11	116,457,541 (GRCm38)	small deletion	probably benign
R7753:Qrich2	UTSW	11	116,457,042 (GRCm38)	small deletion	probably benign
R7800:Qrich2	UTSW	11	116,456,860 (GRCm38)	nonsense	probably null
R7833:Qrich2	UTSW	11	116,455,765 (GRCm38)	missense	probably benign	0.04
R7912:Qrich2	UTSW	11	116,455,782 (GRCm38)	small deletion	probably benign
R7923:Qrich2	UTSW	11	116,457,337 (GRCm38)	missense	probably damaging	1.00
R8197:Qrich2	UTSW	11	116,457,035 (GRCm38)	small deletion	probably benign
R8225:Qrich2	UTSW	11	116,454,068 (GRCm38)	missense	probably damaging	1.00
R8300:Qrich2	UTSW	11	116,456,349 (GRCm38)	missense	probably benign	0.04
R8391:Qrich2	UTSW	11	116,465,577 (GRCm38)	missense	probably benign	0.00
R8705:Qrich2	UTSW	11	116,457,541 (GRCm38)	small deletion	probably benign
R8792:Qrich2	UTSW	11	116,456,630 (GRCm38)	missense	unknown
R8912:Qrich2	UTSW	11	116,457,541 (GRCm38)	small deletion	probably benign
R9025:Qrich2	UTSW	11	116,457,541 (GRCm38)	small deletion	probably benign
R9121:Qrich2	UTSW	11	116,456,446 (GRCm38)	missense	unknown
R9130:Qrich2	UTSW	11	116,456,866 (GRCm38)	nonsense	probably null
R9219:Qrich2	UTSW	11	116,445,074 (GRCm38)	missense	possibly damaging	0.47
R9254:Qrich2	UTSW	11	116,458,108 (GRCm38)	missense	unknown
R9256:Qrich2	UTSW	11	116,465,624 (GRCm38)	missense	probably benign	0.10
R9288:Qrich2	UTSW	11	116,457,541 (GRCm38)	small deletion	probably benign
R9379:Qrich2	UTSW	11	116,458,108 (GRCm38)	missense	unknown
R9448:Qrich2	UTSW	11	116,447,265 (GRCm38)	missense	probably benign	0.01
R9521:Qrich2	UTSW	11	116,448,382 (GRCm38)	missense	probably damaging	1.00
R9620:Qrich2	UTSW	11	116,447,120 (GRCm38)	missense	probably damaging	1.00
R9631:Qrich2	UTSW	11	116,457,541 (GRCm38)	small deletion	probably benign
R9639:Qrich2	UTSW	11	116,456,098 (GRCm38)	missense	probably benign	0.00
R9694:Qrich2	UTSW	11	116,447,120 (GRCm38)	missense	probably damaging	1.00
Z1176:Qrich2	UTSW	11	116,456,378 (GRCm38)	missense	probably benign	0.00
Z1177:Qrich2	UTSW	11	116,456,668 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGGGCAGAGAGAAACACTC -3'
(R):5'- ATCAACTGTGTACTGTGTGCAGC -3'

Sequencing Primer
(F):5'- CAGCTTGGCCTTCTTGGAG -3'
(R):5'- CCTTCTGTGACGCTCTGAGGAG -3'

Posted On

2016-10-06