Mutagenetix > Incidental Mutation

Incidental Mutation 'R1781:Vmn2r12'

195271

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r12

Ensembl Gene

ENSMUSG00000090688

Gene Name

vomeronasal 2, receptor 12

Synonyms

Gm6769

MMRRC Submission

039812-MU

Accession Numbers

Essential gene?

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

Stock #

R1781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109085849-109097864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 109091728 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 323 (G323V)

Ref Sequence

ENSEMBL: ENSMUSP00000093612 (fasta)

Gene Model

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

AlphaFold

L7N217

Predicted Effect

probably benign
Transcript: ENSMUST00000095922
AA Change: G323V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000093612
Gene: ENSMUSG00000090688
AA Change: G323V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

97% (88/91)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	C	T	8: 3,380,495	R123W	probably damaging	Het
Aadacl2	A	G	3: 60,024,696	K211E	probably damaging	Het
Abca13	T	A	11: 9,269,194	L376Q	probably damaging	Het
Abca17	T	C	17: 24,267,557	T1499A	possibly damaging	Het
Anks6	A	C	4: 47,043,639	N363K	possibly damaging	Het
Apob	T	A	12: 8,009,603	I2695N	possibly damaging	Het
Atg14	T	A	14: 47,549,150		probably null	Het
Atg2a	A	T	19: 6,256,213	I1368F	probably damaging	Het
Btbd9	A	G	17: 30,513,593	S373P	probably damaging	Het
Ccdc83	T	C	7: 90,250,541	E41G	probably damaging	Het
Ccnh	T	C	13: 85,206,135	S233P	possibly damaging	Het
Cdh8	T	C	8: 99,190,462		probably null	Het
Cdh8	A	T	8: 99,279,658	I99N	probably damaging	Het
Cdr2	G	A	7: 120,958,045	P419L	probably benign	Het
Cds1	T	A	5: 101,812,550	I289K	possibly damaging	Het
Cherp	G	A	8: 72,467,771	T394I	probably damaging	Het
Cyp4f17	T	G	17: 32,524,019	I222S	possibly damaging	Het
Dcc	A	G	18: 71,378,717	S856P	probably benign	Het
Dcp1a	C	T	14: 30,513,075	T221I	probably benign	Het
Ddx10	A	G	9: 53,207,545	S475P	probably damaging	Het
Dennd5b	G	T	6: 149,027,398	A759E	probably damaging	Het
Disp2	G	A	2: 118,792,561	G1258D	probably damaging	Het
Fam208b	T	C	13: 3,584,759	T683A	possibly damaging	Het
Fhdc1	A	T	3: 84,448,804	D444E	probably damaging	Het
Fhod1	T	C	8: 105,347,789		probably benign	Het
Gcnt7	T	C	2: 172,454,880	K8R	probably benign	Het
Gk5	C	T	9: 96,133,455	T108I	possibly damaging	Het
Gm8214	C	A	1: 183,681,932		noncoding transcript	Het
Gnl1	A	T	17: 35,987,746	I434F	probably damaging	Het
Golga2	T	C	2: 32,306,576	Y986H	probably damaging	Het
Gpr21	T	C	2: 37,517,538	V32A	probably benign	Het
Grb14	A	T	2: 64,975,555		probably null	Het
H6pd	A	T	4: 149,995,931	F144L	probably damaging	Het
Hunk	A	G	16: 90,432,560	Y27C	probably damaging	Het
Ints7	C	T	1: 191,596,284	T223M	possibly damaging	Het
Kcnmb2	T	C	3: 32,179,003		probably null	Het
Lilra6	A	T	7: 3,915,067	L26H	probably benign	Het
Mc4r	A	T	18: 66,859,847	V65E	probably damaging	Het
Mgam	G	A	6: 40,669,863	G708R	probably damaging	Het
Mllt6	A	G	11: 97,672,569	D326G	probably benign	Het
Myo7a	A	T	7: 98,073,124	V1198D	probably damaging	Het
Nampt	T	C	12: 32,833,038	V74A	probably damaging	Het
Nlrp4b	G	C	7: 10,715,339	V123L	probably benign	Het
Ntpcr	T	A	8: 125,745,402	L150Q	probably damaging	Het
Obscn	C	T	11: 59,106,337	E1513K	probably damaging	Het
Ola1	T	C	2: 73,156,755	K178E	possibly damaging	Het
Olfr1351	T	C	10: 79,017,325	M1T	probably null	Het
Olfr1364	C	T	13: 21,573,541	G305D	probably damaging	Het
Olfr1368	C	T	13: 21,142,764	V98I	probably benign	Het
Olfr139	A	T	11: 74,044,960	F105I	probably damaging	Het
Olfr486	A	G	7: 108,171,883	V287A	probably benign	Het
Olfr53	A	T	7: 140,652,506	I176F	probably damaging	Het
Olfr615	C	T	7: 103,560,566	P30S	probably benign	Het
Olfr629	T	C	7: 103,740,821	M140V	probably benign	Het
Olfr672	A	T	7: 104,996,108	F265L	possibly damaging	Het
Olfr981	A	G	9: 40,023,245	N284S	probably damaging	Het
Opalin	T	C	19: 41,067,631		probably null	Het
P2ry12	A	G	3: 59,217,778	F159L	probably benign	Het
Paqr7	T	C	4: 134,507,281		probably null	Het
Parp1	T	C	1: 180,588,013	S466P	probably benign	Het
Parp4	T	A	14: 56,627,381		probably null	Het
Pcdh1	T	C	18: 38,189,924	D952G	probably damaging	Het
Pde6c	T	C	19: 38,151,698	S336P	possibly damaging	Het
Pgk2	T	C	17: 40,208,507	D10G	probably benign	Het
Phf20l1	A	G	15: 66,632,825	T771A	probably damaging	Het
Pkdrej	A	G	15: 85,821,171	V188A	possibly damaging	Het
Plekhm1	A	G	11: 103,394,856	L251P	probably damaging	Het
Prex2	A	T	1: 11,199,955	N1288I	probably benign	Het
Sarnp	T	C	10: 128,833,322	L16P	probably damaging	Het
Scgb3a2	T	C	18: 43,766,968		probably benign	Het
Scn11a	A	T	9: 119,755,082	I1489N	probably damaging	Het
Scn3a	A	T	2: 65,472,385	L1239Q	probably damaging	Het
Shisa9	T	C	16: 12,267,657	S377P	probably benign	Het
Slc22a30	T	A	19: 8,335,772	T550S	probably damaging	Het
Slc25a11	T	C	11: 70,644,825	T296A	probably benign	Het
Slc35f1	T	A	10: 53,062,436		probably null	Het
Slc6a13	A	G	6: 121,334,852	E396G	probably damaging	Het
Spata31d1c	T	C	13: 65,036,171	I509T	probably benign	Het
Srsf9	C	A	5: 115,327,422	Y9*	probably null	Het
Tbx20	T	C	9: 24,725,499	I431V	probably benign	Het
Tespa1	G	A	10: 130,348,250	G67S	probably benign	Het
Trhde	A	T	10: 114,588,500	V460E	possibly damaging	Het
Trip12	A	T	1: 84,730,621	F1739I	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Umodl1	G	A	17: 30,968,550	R196H	probably damaging	Het
Vezf1	G	T	11: 88,081,621	M269I	probably benign	Het
Vmn1r35	A	T	6: 66,679,566	M40K	probably benign	Het
Vmn1r9	G	T	6: 57,071,315	C125F	probably benign	Het
Vmn2r79	A	T	7: 87,002,347	H318L	probably benign	Het
Zfhx3	T	A	8: 108,793,535	S430T	probably benign	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
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
R8947:Vmn2r12	UTSW	5	109086656	missense	possibly damaging	0.64
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'- TGGGCCACAGCATACACAGCATTATAC -3'
(R):5'- TTCCCAATGTCCATCAGGTAGCCACC -3'

Sequencing Primer
(F):5'- GATTGTAACCTTCCTCACTCAGAAC -3'
(R):5'- TCATCTCAGATGATGACCAGTG -3'

Posted On

2014-05-23