Mutagenetix > Incidental Mutation

Incidental Mutation 'R8062:Vmn1r196'

619811

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r196

Ensembl Gene

ENSMUSG00000069295

Gene Name

vomeronasal 1 receptor 196

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8062 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22289920-22298360 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22293270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 26 (N26K)

Ref Sequence

ENSEMBL: ENSMUSP00000089329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091735] [ENSMUST00000226245] [ENSMUST00000227516] [ENSMUST00000228382] [ENSMUST00000228557]

AlphaFold

Q5SVD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000091735
AA Change: N26K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089329
Gene: ENSMUSG00000069295
AA Change: N26K

Domain	Start	End	E-Value	Type
Pfam:V1R	35	297	3.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226245

Predicted Effect

probably benign
Transcript: ENSMUST00000227516

Predicted Effect

probably damaging
Transcript: ENSMUST00000228382
AA Change: N26K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228557
AA Change: N26K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	A	T	8: 79,701,144	Y172N	possibly damaging	Het
Abhd2	T	A	7: 79,325,590	M176K	possibly damaging	Het
Adamts14	A	G	10: 61,200,361		probably null	Het
Atg2a	T	C	19: 6,252,579		probably null	Het
AW822073	G	A	10: 58,223,810	A374V	unknown	Het
Bach2	G	A	4: 32,562,937	G468E	probably damaging	Het
Bap1	T	A	14: 31,257,508	N489K	probably benign	Het
Btaf1	G	A	19: 36,992,465	V1180I	probably benign	Het
Calm5	A	G	13: 3,854,405	H33R	probably benign	Het
Cnr1	T	A	4: 33,944,707	V365E	possibly damaging	Het
Crym	A	C	7: 120,201,168	V77G	probably damaging	Het
Cyp2j7	T	A	4: 96,215,350	E316V	probably null	Het
Dab2	G	A	15: 6,427,341	G233D	probably damaging	Het
Ddx19b	A	T	8: 111,020,979	S108T	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Duxf3	A	C	10: 58,230,928	M93R	probably benign	Het
Duxf3	G	A	10: 58,231,067	L537F	probably damaging	Het
Eif2s2	A	G	2: 154,877,804	F182L	possibly damaging	Het
Erlin1	T	A	19: 44,056,159	K156I	probably benign	Het
Gapvd1	A	G	2: 34,678,114	S1413P	probably benign	Het
Gm1110	G	A	9: 26,881,821	A553V	probably damaging	Het
Gm3250	C	A	10: 77,782,400	C48F	unknown	Het
Gm3604	T	C	13: 62,370,341	S68G	probably damaging	Het
Golga5	T	A	12: 102,484,480	M464K	probably benign	Het
Gpr142	G	A	11: 114,806,531	R301Q	probably benign	Het
Gria4	C	T	9: 4,480,273	D392N	possibly damaging	Het
Grik2	T	A	10: 49,240,767	T633S	probably damaging	Het
Gsap	T	A	5: 21,194,463	I54N	probably damaging	Het
Hdlbp	A	G	1: 93,438,342	Y40H	probably benign	Het
Hyal5	C	A	6: 24,876,197	T23K	possibly damaging	Het
Itga6	T	A	2: 71,841,743	F834L	probably benign	Het
K230010J24Rik	G	A	15: 76,046,754	R508H	probably benign	Het
Klf1	T	A	8: 84,903,299	L251Q	probably benign	Het
Kndc1	A	G	7: 139,918,844	D558G	probably benign	Het
Ktn1	T	A	14: 47,724,972		probably null	Het
Lcmt2	A	G	2: 121,140,272	V110A	possibly damaging	Het
Lgr4	C	T	2: 110,000,937	R304C	probably damaging	Het
Lnpk	T	A	2: 74,551,063	I119L	possibly damaging	Het
Med13	A	G	11: 86,319,438	V626A	probably benign	Het
Mroh9	A	T	1: 163,038,975	L700M	probably damaging	Het
Muc4	T	A	16: 32,756,749	W138R		Het
Myh2	G	T	11: 67,193,383	E1611*	probably null	Het
Myo9b	T	G	8: 71,321,813	S323A	probably damaging	Het
Olfr1086	A	C	2: 86,677,066	V89G	probably benign	Het
Olfr1263	T	A	2: 90,015,736	F269I	possibly damaging	Het
Olfr135	A	T	17: 38,209,174	I310F	probably benign	Het
Olfr888	G	T	9: 38,108,917	C72F	probably damaging	Het
P2ry13	A	T	3: 59,210,282	M25K	probably benign	Het
Pan3	T	A	5: 147,527,150	F571Y	probably benign	Het
Pdcd11	A	G	19: 47,130,713	D1831G	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pex1	T	G	5: 3,605,656	M161R	probably benign	Het
Piezo2	T	A	18: 63,030,466	D2127V	possibly damaging	Het
Plod3	A	T	5: 136,990,269	H336L	possibly damaging	Het
Pp2d1	A	T	17: 53,515,770	N89K	probably benign	Het
Ppp4r3a	A	G	12: 101,041,971	S736P	probably damaging	Het
Prp2	C	A	6: 132,600,688	Q313K	unknown	Het
Psma5	T	G	3: 108,266,479	D90E	probably benign	Het
Reln	G	A	5: 21,971,992	T1892I	probably benign	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rsf1	T	G	7: 97,677,387	D1039E		Het
Rtel1	A	G	2: 181,340,567	D370G	probably benign	Het
Scyl2	T	A	10: 89,654,160	N447Y	probably damaging	Het
Sis	A	T	3: 72,920,988	Y1222*	probably null	Het
Slc37a3	A	T	6: 39,364,596	H35Q	probably damaging	Het
Sltm	A	T	9: 70,573,497	K210N	unknown	Het
Spata3	T	C	1: 86,024,426	I134T	unknown	Het
Speer4d	A	T	5: 15,620,439	N54I	possibly damaging	Het
Spert	A	T	14: 75,592,606	I49N	probably benign	Het
Syne1	A	G	10: 5,185,394		probably null	Het
Tars	A	T	15: 11,388,314	F465Y	possibly damaging	Het
Tlr4	T	G	4: 66,839,850	N293K	probably benign	Het
Tmprss13	C	A	9: 45,328,688	T98K	unknown	Het
Tnfsf8	G	A	4: 63,861,195		probably benign	Het
Trim30b	T	A	7: 104,366,186		probably benign	Het
Trpm1	A	G	7: 64,201,941	K136E	probably benign	Het
Ttc6	A	G	12: 57,736,978	Y1741C	possibly damaging	Het
Usp38	T	C	8: 80,984,589	D939G	probably damaging	Het
Vmn2r50	C	A	7: 10,040,313		probably null	Het
Wdr3	T	A	3: 100,142,494	M773L	probably benign	Het
Zfp993	T	G	4: 146,654,958		probably null	Het

Other mutations in Vmn1r196

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01941:Vmn1r196	APN	13	22293699	nonsense	probably null
R0415:Vmn1r196	UTSW	13	22293836	missense	probably damaging	1.00
R0502:Vmn1r196	UTSW	13	22293387	missense	probably benign	0.01
R0503:Vmn1r196	UTSW	13	22293387	missense	probably benign	0.01
R2306:Vmn1r196	UTSW	13	22293303	missense	probably benign	0.08
R4463:Vmn1r196	UTSW	13	22293683	missense	probably benign
R6335:Vmn1r196	UTSW	13	22293717	missense	probably benign	0.18
R7664:Vmn1r196	UTSW	13	22293762	missense	probably damaging	1.00
R9017:Vmn1r196	UTSW	13	22294084	missense	probably benign	0.00
R9434:Vmn1r196	UTSW	13	22293620	nonsense	probably null
R9583:Vmn1r196	UTSW	13	22293750	missense	probably damaging	0.96
S24628:Vmn1r196	UTSW	13	22293836	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAAGGCTATCTTTCATATACCAG -3'
(R):5'- CCGGGCCATCCTTTCTAGATAAAC -3'

Sequencing Primer
(F):5'- CCCAAATTTTCTACCCATGAAG -3'
(R):5'- TCTAGATAAACAATAACGTGACAGC -3'

Posted On

2020-01-23