Mutagenetix > Incidental Mutation

Incidental Mutation 'R8947:Vmn2r12'

681366

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r12

Ensembl Gene

ENSMUSG00000090688

Gene Name

vomeronasal 2, receptor 12

Synonyms

Gm6769

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R8947 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109085849-109097864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 109086656 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 563 (K563N)

Ref Sequence

ENSEMBL: ENSMUSP00000093612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095922]

AlphaFold

L7N217

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095922
AA Change: K563N

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093612
Gene: ENSMUSG00000090688
AA Change: K563N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ANF_receptor	76	466	8.8e-30	PFAM
Pfam:NCD3G	505	559	1.7e-18	PFAM
Pfam:7tm_3	591	827	3.9e-54	PFAM

Coding Region Coverage

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

Validation Efficiency

99% (93/94)

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	A	4: 42,972,097	S477T	probably benign	Het
4930562C15Rik	T	A	16: 4,847,428	F141L	unknown	Het
A2ml1	G	T	6: 128,552,256	N974K	probably damaging	Het
Abcg8	T	C	17: 84,691,818	L114P	probably damaging	Het
Akt3	A	T	1: 177,131,079	W22R	probably damaging	Het
Ank2	C	T	3: 126,942,747		probably benign	Het
Ap1g1	C	T	8: 109,863,332		probably benign	Het
Arhgef19	T	A	4: 141,246,307	V35E	possibly damaging	Het
Baz2b	T	C	2: 59,948,239	D759G	probably benign	Het
BC051665	C	A	13: 60,782,190	G320W	probably damaging	Het
Bche	T	A	3: 73,701,428	T222S	probably damaging	Het
C8a	T	C	4: 104,822,129	D444G	probably damaging	Het
Cacna1e	A	T	1: 154,402,150	S2019T	probably benign	Het
Carm1	T	C	9: 21,586,453	I373T	probably damaging	Het
Ccdc39	T	C	3: 33,815,460		probably benign	Het
Clic5	A	T	17: 44,242,261		probably benign	Het
Cntn3	A	G	6: 102,437,903	F28L	probably damaging	Het
Col6a5	C	T	9: 105,945,634	E175K	unknown	Het
Cpb2	T	C	14: 75,278,187	Y352H	probably damaging	Het
Cpeb3	A	T	19: 37,174,966	D3E	probably damaging	Het
Ctsl	T	C	13: 64,367,026	T155A	probably damaging	Het
Cygb	C	T	11: 116,649,819	A114T	probably damaging	Het
Cyp11a1	T	C	9: 58,017,455	V17A	probably benign	Het
Dhcr7	T	G	7: 143,847,222	I374S	probably damaging	Het
Dhx36	T	C	3: 62,472,966	R807G	probably benign	Het
Diaph1	A	T	18: 37,853,701	V1077E	probably damaging	Het
Ehmt2	A	G	17: 34,908,304	E131G	possibly damaging	Het
Evpl	A	G	11: 116,221,338	I1842T	probably damaging	Het
Fastk	C	A	5: 24,441,651	C294F	probably damaging	Het
Fndc5	T	C	4: 129,137,136	C20R	probably benign	Het
Gm7298	C	A	6: 121,780,594	Q1053K	possibly damaging	Het
Gm8362	A	G	14: 6,773,326		probably null	Het
Gmps	T	A	3: 63,998,677	I465N	probably damaging	Het
Heatr4	T	G	12: 83,954,657	M904L	probably benign	Het
Hhip	T	A	8: 80,045,156	D175V	probably damaging	Het
Hmcn2	G	A	2: 31,388,208	V1641M	probably damaging	Het
Hoxa5	T	G	6: 52,202,796	T200P	probably damaging	Het
Ift122	C	A	6: 115,924,407	A1050D	probably benign	Het
Igf2bp2	C	A	16: 22,078,723	E247*	probably null	Het
Irak1bp1	T	A	9: 82,846,793	L259H	probably damaging	Het
Irgm1	G	A	11: 48,868,748		probably benign	Het
Itih1	A	T	14: 30,935,909		probably benign	Het
Itpk1	A	T	12: 102,570,323	C355S	probably benign	Het
Kcng4	T	C	8: 119,625,713	E486G	possibly damaging	Het
Kif20b	T	C	19: 34,941,229	V671A	possibly damaging	Het
Kif28	T	G	1: 179,716,755	I345L	possibly damaging	Het
Klri2	C	G	6: 129,733,779		probably null	Het
Kntc1	T	C	5: 123,786,978	V1118A	probably benign	Het
Lpin2	T	A	17: 71,204,876	I34N	probably benign	Het
Lrch3	T	A	16: 32,981,829	V264D	possibly damaging	Het
Lrrk2	C	T	15: 91,702,270	Q430*	probably null	Het
Map10	T	G	8: 125,671,100	S411A	probably benign	Het
Map1a	A	T	2: 121,304,969	I2089F	probably benign	Het
Med12l	T	A	3: 59,077,022		probably benign	Het
Mypn	T	A	10: 63,169,377	Q317L	probably damaging	Het
Ncan	T	A	8: 70,102,521	I999F	probably damaging	Het
Nmrk2	C	A	10: 81,199,705	R134L	probably damaging	Het
Olfr1290	C	T	2: 111,489,697	V154I	probably benign	Het
Olfr181	T	C	16: 58,926,070	N167S	probably benign	Het
Olfr5	A	G	7: 6,480,247	V303A	probably benign	Het
Olfr583	T	A	7: 103,052,108	V270E	probably damaging	Het
Olfr905	T	A	9: 38,473,389	I214N	probably damaging	Het
Osbpl1a	A	G	18: 12,766,801		probably null	Het
Pcdh1	T	C	18: 38,199,020	D310G	possibly damaging	Het
Pkn2	C	T	3: 142,811,913		probably null	Het
Plch1	T	A	3: 63,784,126	M31L	probably damaging	Het
Polg2	A	G	11: 106,768,344	F448L	probably damaging	Het
Ppp4r3b	A	G	11: 29,200,758	T475A	possibly damaging	Het
Prdm13	C	T	4: 21,678,817	E558K	probably damaging	Het
Prdm9	T	A	17: 15,544,008	I837F	possibly damaging	Het
R3hdm1	T	A	1: 128,174,957	M125K	possibly damaging	Het
Rbm39	A	T	2: 156,148,356	V468E	probably damaging	Het
Rnasel	T	A	1: 153,755,031	V431E	probably damaging	Het
Rps2	T	A	17: 24,721,253	D220E	probably benign	Het
Rsf1	T	C	7: 97,681,852		probably benign	Het
Rsph10b	G	T	5: 143,977,134	A710S	probably benign	Het
Sez6	A	T	11: 77,953,527	T59S	probably damaging	Het
Sf3b1	A	T	1: 55,000,285	V727E	probably damaging	Het
Slit2	T	G	5: 48,249,798	L857R	probably damaging	Het
Sspo	T	G	6: 48,448,570	C42G	probably damaging	Het
Strc	C	T	2: 121,370,989	D1245N	probably benign	Het
Supv3l1	T	A	10: 62,432,339	T576S	probably benign	Het
Tecrl	C	T	5: 83,313,307	R101Q	probably benign	Het
Tmeff2	A	G	1: 51,181,793	Y309C	probably damaging	Het
Tmem43	T	A	6: 91,485,380	W316R	probably damaging	Het
Tmigd3	T	C	3: 105,914,238	V141A	probably benign	Het
Trav9-1	T	C	14: 53,488,127	F8L	probably benign	Het
Trbv5	T	G	6: 41,062,707	F82C	probably damaging	Het
Ubtf	T	C	11: 102,314,976	N41S	possibly damaging	Het
Uggt1	T	C	1: 36,158,148	T1225A	probably benign	Het
Vmn1r72	T	C	7: 11,669,880	R214G	possibly damaging	Het
Vmn2r83	T	C	10: 79,469,039	S28P	probably benign	Het
Vwa8	T	G	14: 79,201,112	L1875R	probably damaging	Het
Xrcc6	T	A	15: 82,029,665	V64E	probably damaging	Het
Zfp292	T	C	4: 34,811,835	Y403C	probably damaging	Het
Zfp955a	A	T	17: 33,241,981	H392Q	probably damaging	Het
Zfyve19	T	C	2: 119,210,809	S69P	probably damaging	Het

Other mutations in Vmn2r12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Vmn2r12	APN	5	109097675	missense	possibly damaging	0.47
IGL01096:Vmn2r12	APN	5	109086259	missense	probably damaging	1.00
IGL01538:Vmn2r12	APN	5	109091850	missense	probably damaging	1.00
IGL01548:Vmn2r12	APN	5	109093027	nonsense	probably null
IGL01762:Vmn2r12	APN	5	109086564	missense	probably damaging	0.99
IGL01860:Vmn2r12	APN	5	109092159	missense	probably benign	0.10
IGL02269:Vmn2r12	APN	5	109086477	missense	probably damaging	1.00
IGL02530:Vmn2r12	APN	5	109085992	missense	probably damaging	1.00
IGL02887:Vmn2r12	APN	5	109090485	missense	probably benign	0.03
IGL03265:Vmn2r12	APN	5	109092070	missense	probably benign	0.05
R0396:Vmn2r12	UTSW	5	109092899	missense	probably benign	0.00
R0497:Vmn2r12	UTSW	5	109091889	nonsense	probably null
R0529:Vmn2r12	UTSW	5	109092848	missense	probably benign
R0715:Vmn2r12	UTSW	5	109090507	missense	probably benign	0.10
R0742:Vmn2r12	UTSW	5	109086415	missense	possibly damaging	0.55
R0894:Vmn2r12	UTSW	5	109087850	critical splice donor site	probably null
R1173:Vmn2r12	UTSW	5	109092854	missense	probably benign	0.00
R1174:Vmn2r12	UTSW	5	109092854	missense	probably benign	0.00
R1259:Vmn2r12	UTSW	5	109091897	missense	probably damaging	0.97
R1349:Vmn2r12	UTSW	5	109086586	missense	probably benign	0.00
R1388:Vmn2r12	UTSW	5	109092974	missense	possibly damaging	0.56
R1549:Vmn2r12	UTSW	5	109092830	missense	probably benign	0.06
R1766:Vmn2r12	UTSW	5	109092044	missense	probably damaging	1.00
R1781:Vmn2r12	UTSW	5	109091728	missense	probably benign	0.00
R1885:Vmn2r12	UTSW	5	109092076	missense	probably damaging	1.00
R2159:Vmn2r12	UTSW	5	109091474	missense	probably benign	0.02
R2420:Vmn2r12	UTSW	5	109086532	missense	probably benign	0.39
R2421:Vmn2r12	UTSW	5	109086532	missense	probably benign	0.39
R2422:Vmn2r12	UTSW	5	109086532	missense	probably benign	0.39
R2937:Vmn2r12	UTSW	5	109091531	missense	probably damaging	1.00
R2938:Vmn2r12	UTSW	5	109091531	missense	probably damaging	1.00
R3898:Vmn2r12	UTSW	5	109090504	missense	probably benign	0.02
R4061:Vmn2r12	UTSW	5	109092192	missense	possibly damaging	0.95
R4063:Vmn2r12	UTSW	5	109092192	missense	possibly damaging	0.95
R4090:Vmn2r12	UTSW	5	109091546	missense	probably benign	0.06
R4297:Vmn2r12	UTSW	5	109091964	missense	probably benign	0.12
R4298:Vmn2r12	UTSW	5	109091964	missense	probably benign	0.12
R4299:Vmn2r12	UTSW	5	109091964	missense	probably benign	0.12
R4304:Vmn2r12	UTSW	5	109086006	missense	probably damaging	1.00
R4306:Vmn2r12	UTSW	5	109086006	missense	probably damaging	1.00
R4307:Vmn2r12	UTSW	5	109086006	missense	probably damaging	1.00
R4308:Vmn2r12	UTSW	5	109086006	missense	probably damaging	1.00
R4594:Vmn2r12	UTSW	5	109086435	missense	probably damaging	1.00
R4783:Vmn2r12	UTSW	5	109086513	missense	probably damaging	1.00
R4900:Vmn2r12	UTSW	5	109092986	missense	probably damaging	1.00
R4929:Vmn2r12	UTSW	5	109091678	missense	probably damaging	1.00
R4974:Vmn2r12	UTSW	5	109091506	missense	probably damaging	1.00
R5389:Vmn2r12	UTSW	5	109090395	missense	probably benign	0.00
R5431:Vmn2r12	UTSW	5	109091818	missense	probably damaging	0.99
R5527:Vmn2r12	UTSW	5	109086617	nonsense	probably null
R5639:Vmn2r12	UTSW	5	109092800	missense	probably benign	0.06
R5753:Vmn2r12	UTSW	5	109091804	missense	probably damaging	1.00
R5797:Vmn2r12	UTSW	5	109085870	nonsense	probably null
R6142:Vmn2r12	UTSW	5	109092897	missense	probably benign
R6162:Vmn2r12	UTSW	5	109086564	missense	probably damaging	0.99
R6176:Vmn2r12	UTSW	5	109086000	missense	probably benign	0.43
R6853:Vmn2r12	UTSW	5	109092905	missense	probably damaging	1.00
R7238:Vmn2r12	UTSW	5	109097789	missense	possibly damaging	0.81
R7341:Vmn2r12	UTSW	5	109086247	missense	possibly damaging	0.74
R7341:Vmn2r12	UTSW	5	109091945	missense	possibly damaging	0.95
R7383:Vmn2r12	UTSW	5	109092818	missense	probably benign	0.19
R7740:Vmn2r12	UTSW	5	109091749	missense	probably damaging	1.00
R7749:Vmn2r12	UTSW	5	109086054	missense	probably damaging	0.99
R7861:Vmn2r12	UTSW	5	109087963	missense	probably benign	0.00
R7908:Vmn2r12	UTSW	5	109086441	missense	probably damaging	1.00
R8128:Vmn2r12	UTSW	5	109091881	missense	possibly damaging	0.81
R8175:Vmn2r12	UTSW	5	109090483	missense	probably damaging	0.97
R8234:Vmn2r12	UTSW	5	109086208	missense	probably benign	0.01
R8771:Vmn2r12	UTSW	5	109092086	missense	possibly damaging	0.95
R8991:Vmn2r12	UTSW	5	109086167	nonsense	probably null
R9116:Vmn2r12	UTSW	5	109086019	missense	probably damaging	1.00
R9122:Vmn2r12	UTSW	5	109093044	missense	probably benign	0.00
R9153:Vmn2r12	UTSW	5	109086337	missense	probably damaging	1.00
R9371:Vmn2r12	UTSW	5	109086586	missense	probably benign	0.00
R9375:Vmn2r12	UTSW	5	109086120	missense	probably damaging	1.00
R9524:Vmn2r12	UTSW	5	109091957	missense	probably damaging	1.00
R9587:Vmn2r12	UTSW	5	109091456	missense	probably damaging	0.99
Z1088:Vmn2r12	UTSW	5	109092780	missense	probably benign
Z1176:Vmn2r12	UTSW	5	109091437	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGAGAATGCGGTTATTGGCC -3'
(R):5'- TGTTTTGTCCCATCACAAAGCATAG -3'

Sequencing Primer
(F):5'- ATTGGCCTTCACAATGGGAGTATCC -3'
(R):5'- GAGAACAACTTAAGTTAGTGGTCCC -3'

Posted On

2021-08-31