Mutagenetix > Incidental Mutation

Incidental Mutation 'R1766:Vmn2r12'

194361

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r12

Ensembl Gene

ENSMUSG00000090688

Gene Name

vomeronasal 2, receptor 12

Synonyms

Gm6769

MMRRC Submission

039798-MU

Accession Numbers

Essential gene?

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

Stock #

R1766 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109085849-109097864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 109092044 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 218 (Q218K)

Ref Sequence

ENSEMBL: ENSMUSP00000093612 (fasta)

Gene Model

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

AlphaFold

L7N217

Predicted Effect

probably damaging
Transcript: ENSMUST00000095922
AA Change: Q218K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093612
Gene: ENSMUSG00000090688
AA Change: Q218K

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933403O08Rik	T	C	X: 112,241,085	Y22H	probably benign	Het
Afg1l	T	C	10: 42,454,495	T59A	probably benign	Het
Ankrd17	T	A	5: 90,264,797	M1223L	possibly damaging	Het
Ankrd24	G	A	10: 81,638,638	S68N	probably benign	Het
Arhgap31	A	G	16: 38,625,590	I131T	probably damaging	Het
Arhgef10	A	T	8: 14,979,836	I874F	probably damaging	Het
Arl5b	T	C	2: 15,069,837	V43A	probably benign	Het
BC051665	G	A	13: 60,785,040	H36Y	probably benign	Het
Cdh9	A	G	15: 16,778,306	D69G	probably damaging	Het
Chd6	G	A	2: 160,966,639	L1552F	probably damaging	Het
Chrd	A	G	16: 20,737,441	H584R	probably damaging	Het
Dnhd1	G	A	7: 105,693,972	V1508I	possibly damaging	Het
Dpy19l4	C	T	4: 11,303,360	G187D	probably damaging	Het
Dync2h1	T	C	9: 7,015,526		probably null	Het
Ehbp1l1	A	G	19: 5,716,406	V1303A	probably damaging	Het
Eif4e1b	G	A	13: 54,786,891	E182K	probably damaging	Het
Fam170b	A	T	14: 32,835,886	Q226L	possibly damaging	Het
Fam193a	C	T	5: 34,462,131	P760L	probably damaging	Het
Gabra5	A	T	7: 57,508,048	L6H	probably benign	Het
Gabrq	G	A	X: 72,833,383	R161H	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm7334	T	A	17: 50,698,978	D97E	probably damaging	Het
Gpsm1	G	A	2: 26,325,383	A286T	probably damaging	Het
Gsta4	C	A	9: 78,204,329	Y79*	probably null	Het
Hcn1	T	A	13: 117,656,734	V174D	probably benign	Het
Hic1	G	T	11: 75,165,794	C756*	probably null	Het
Hivep3	C	T	4: 120,096,671	T728I	probably benign	Het
Ice1	T	C	13: 70,604,442	E1175G	possibly damaging	Het
Igsf3	T	A	3: 101,431,282	L304Q	probably damaging	Het
Kpna6	T	C	4: 129,657,442	D90G	probably benign	Het
Krt73	C	T	15: 101,793,928	G500D	probably damaging	Het
Lama3	A	G	18: 12,402,062	K156E	probably damaging	Het
Mdm2	T	C	10: 117,696,022	K94E	probably damaging	Het
Mitf	T	C	6: 97,941,099	S26P	probably damaging	Het
Myh4	C	A	11: 67,256,295	Q1589K	possibly damaging	Het
Nlrp4c	T	A	7: 6,073,114	V671E	probably benign	Het
Nop9	C	T	14: 55,752,134	A407V	possibly damaging	Het
Nrap	T	A	19: 56,335,042	H1366L	probably damaging	Het
Ntrk1	A	T	3: 87,778,518	C766S	probably damaging	Het
Olfr625-ps1	A	G	7: 103,682,861	N38D	possibly damaging	Het
Olfr735	T	C	14: 50,346,220	Y43C	probably damaging	Het
Olfr768	T	C	10: 129,093,747	I76V	probably benign	Het
Olfr845	A	G	9: 19,338,858	T133A	probably benign	Het
Oog3	C	T	4: 144,159,122	G302D	possibly damaging	Het
Pdzph1	C	T	17: 58,973,752	V512I	probably benign	Het
Phf2	A	C	13: 48,819,557	S408A	unknown	Het
Pigk	T	G	3: 152,740,156	L135V	probably damaging	Het
Ppp2ca	C	A	11: 52,121,946	T301N	probably benign	Het
Ppp4r3a	A	G	12: 101,058,482	S253P	probably damaging	Het
Ptgfrn	A	T	3: 101,050,122	I712N	probably benign	Het
Rapgef2	A	T	3: 79,092,703	D579E	probably damaging	Het
Rims2	T	A	15: 39,462,580	D769E	probably damaging	Het
Rptor	T	A	11: 119,725,061	C134S	probably damaging	Het
S100a1	A	G	3: 90,511,292	F72L	probably damaging	Het
Scube1	T	A	15: 83,721,945	D42V	probably damaging	Het
Sh3glb1	T	C	3: 144,712,685	D39G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,273,250	T397A	probably benign	Het
Siglece	G	A	7: 43,651,532	T453M	probably damaging	Het
Slc26a1	G	A	5: 108,671,792	R514W	probably damaging	Het
Slc4a8	T	C	15: 100,787,212	V156A	probably benign	Het
Smchd1	A	T	17: 71,391,379	V1134E	probably damaging	Het
Sorbs2	A	G	8: 45,770,576	Y222C	probably damaging	Het
Sorcs3	G	T	19: 48,603,875	W326C	possibly damaging	Het
Taf2	A	G	15: 55,071,397	V45A	probably benign	Het
Tiparp	A	T	3: 65,532,049	H80L	probably damaging	Het
Tmem71	T	A	15: 66,541,699	T175S	probably benign	Het
Tmem87b	T	A	2: 128,839,170	V338D	probably damaging	Het
Trdn	A	G	10: 33,364,008	K445R	probably damaging	Het
Trim14	A	G	4: 46,522,039	F213L	probably benign	Het
Tubgcp5	T	A	7: 55,815,020	S550T	probably benign	Het
Tufm	A	G	7: 126,490,472	D446G	probably benign	Het
Vipr1	A	T	9: 121,661,419	Y177F	possibly damaging	Het
Vmn2r116	A	C	17: 23,401,766	I825L	probably damaging	Het
Vwa7	G	T	17: 35,023,943		probably null	Het
Ywhae	T	C	11: 75,755,665	V119A	probably damaging	Het
Zfand5	A	G	19: 21,280,524	R199G	probably damaging	Het
Zfp810	T	C	9: 22,278,532	Y360C	possibly damaging	Het
Zrsr1	A	G	11: 22,973,637	D137G	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
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
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'- TGCGATCCAGATTCTCCTTACACCTT -3'
(R):5'- ACTGGGAAAACAGGCAAACTGTCAA -3'

Sequencing Primer
(F):5'- CCTTCTAAAGCTGACTTCTAGGGTAG -3'
(R):5'- CAGGCAAACTGTCAAGAATACTC -3'

Posted On

2014-05-23