Mutagenetix > Incidental Mutations

Incidental Mutation 'R0815:Vmn2r94'

78594

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r94

Ensembl Gene

ENSMUSG00000090417

Gene Name

vomeronasal 2, receptor 94

Synonyms

EG665227

MMRRC Submission

038995-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R0815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18240994-18277756 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 18257711 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 146 (Q146P)

Ref Sequence

ENSEMBL: ENSMUSP00000156288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172190] [ENSMUST00000231457] [ENSMUST00000231815]

Predicted Effect

probably damaging
Transcript: ENSMUST00000172190
AA Change: Q146P

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

SMART Domains

Protein: ENSMUSP00000126386
Gene: ENSMUSG00000090417
AA Change: Q146P

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	42	425	1.7e-35	PFAM
Pfam:NCD3G	469	522	3.5e-21	PFAM
Pfam:7tm_3	553	790	1.7e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231457

Predicted Effect

probably damaging
Transcript: ENSMUST00000231815
AA Change: Q146P

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.5%
20x: 91.3%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	T	9: 92,351,087	I88L	possibly damaging	Het
Abcb5	A	G	12: 118,901,449		probably benign	Het
Abcf2	A	T	5: 24,567,270	Y487N	probably damaging	Het
Adcy4	T	C	14: 55,783,599	Y27C	probably damaging	Het
Atp2a2	T	C	5: 122,471,236	I188V	probably benign	Het
Cacna1s	A	T	1: 136,112,957	I1231F	possibly damaging	Het
Capn7	T	A	14: 31,369,757	C704S	possibly damaging	Het
Celsr2	G	T	3: 108,401,301	T1770K	possibly damaging	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Cul9	T	C	17: 46,537,822		probably null	Het
Dpp10	A	G	1: 123,432,929		probably null	Het
Dscaml1	A	G	9: 45,745,074	I1571V	probably benign	Het
Eif3j2	T	A	18: 43,476,971	Y259F	probably benign	Het
Erc2	A	C	14: 28,025,148	N345T	probably benign	Het
Fbxo21	T	C	5: 117,995,508		probably benign	Het
Frmd8	A	T	19: 5,865,056		probably benign	Het
Gfm1	T	C	3: 67,474,595	S705P	probably damaging	Het
Gucy1b2	T	C	14: 62,419,062	D282G	probably benign	Het
H2-Ab1	T	C	17: 34,267,354	I129T	probably damaging	Het
H2-M10.3	T	A	17: 36,366,690	Y232F	probably damaging	Het
Lipm	A	T	19: 34,118,761	T326S	probably benign	Het
Lrrc8c	T	C	5: 105,608,534	L725P	probably damaging	Het
Map3k19	A	G	1: 127,834,638		probably benign	Het
Med31	T	A	11: 72,213,831	N50I	probably damaging	Het
Mgea5	C	T	19: 45,782,986	A49T	probably benign	Het
Myo15b	T	G	11: 115,866,336		probably benign	Het
Nemp1	T	C	10: 127,693,024	L199S	probably damaging	Het
Nod2	G	A	8: 88,672,662		probably benign	Het
Olfr1444	A	G	19: 12,862,644	I290V	probably benign	Het
Olfr319	A	G	11: 58,702,609	R303G	possibly damaging	Het
Parva	G	A	7: 112,567,864	V215M	probably damaging	Het
Phf1	T	C	17: 26,937,140		probably benign	Het
Ppp1r12c	G	T	7: 4,486,366	Q240K	probably damaging	Het
Ralgapa1	A	T	12: 55,762,681	Y436*	probably null	Het
Ralgapa1	C	A	12: 55,782,777		probably benign	Het
Rbm11	C	T	16: 75,596,637	R74C	probably damaging	Het
Robo3	A	G	9: 37,422,183	V744A	probably damaging	Het
Rsbn1	T	G	3: 103,954,153	S522A	probably damaging	Het
Scel	T	A	14: 103,586,480	S381R	possibly damaging	Het
Sec31b	G	A	19: 44,518,173	Q909*	probably null	Het
Slc38a11	T	A	2: 65,353,780	I176L	possibly damaging	Het
Slc39a4	C	T	15: 76,612,639	D574N	probably damaging	Het
Slc44a1	T	G	4: 53,536,421	V199G	possibly damaging	Het
Sltm	A	G	9: 70,561,908	T150A	probably benign	Het
Son	C	A	16: 91,655,484	A373D	probably damaging	Het
Sp140	C	T	1: 85,620,051		probably benign	Het
Speg	A	G	1: 75,415,392	Y1606C	probably damaging	Het
Srgap1	A	T	10: 121,785,474	V1061D	probably damaging	Het
Stat5a	A	G	11: 100,875,082		probably null	Het
Supt4a	T	A	11: 87,737,583		probably benign	Het
Teddm1b	A	G	1: 153,874,892	K149R	possibly damaging	Het
Thnsl2	A	T	6: 71,134,224	L220*	probably null	Het
Tinf2	G	A	14: 55,680,109	P308S	probably benign	Het
Tmem131l	A	G	3: 83,940,572	S329P	probably benign	Het
Tnf	T	C	17: 35,201,144		probably benign	Het
Upp2	A	G	2: 58,771,556	T144A	probably benign	Het
Zfhx4	T	A	3: 5,245,315	S919R	possibly damaging	Het

Other mutations in Vmn2r94

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Vmn2r94	APN	17	18257039	missense	probably damaging	1.00
IGL01676:Vmn2r94	APN	17	18257010	missense	probably benign
IGL01687:Vmn2r94	APN	17	18253312	missense	possibly damaging	0.64
IGL02113:Vmn2r94	APN	17	18257675	missense	probably damaging	0.99
IGL02408:Vmn2r94	APN	17	18253261	missense	probably benign	0.01
IGL02451:Vmn2r94	APN	17	18258191	missense	possibly damaging	0.95
IGL02755:Vmn2r94	APN	17	18244499	missense	probably benign	0.01
IGL02822:Vmn2r94	APN	17	18243620	missense	probably benign	0.00
IGL02868:Vmn2r94	APN	17	18244054	missense	possibly damaging	0.75
IGL03008:Vmn2r94	APN	17	18257646	missense	probably benign	0.05
R0112:Vmn2r94	UTSW	17	18243604	missense	probably benign
R0371:Vmn2r94	UTSW	17	18257294	missense	probably benign	0.11
R0413:Vmn2r94	UTSW	17	18243818	missense	probably damaging	0.98
R0627:Vmn2r94	UTSW	17	18257165	missense	probably damaging	1.00
R0737:Vmn2r94	UTSW	17	18277433	nonsense	probably null
R0863:Vmn2r94	UTSW	17	18257711	missense	probably damaging	1.00
R1125:Vmn2r94	UTSW	17	18257455	missense	probably damaging	1.00
R1276:Vmn2r94	UTSW	17	18257082	missense	possibly damaging	0.47
R1491:Vmn2r94	UTSW	17	18257703	missense	probably damaging	1.00
R1500:Vmn2r94	UTSW	17	18256980	missense	probably benign	0.07
R1610:Vmn2r94	UTSW	17	18243733	missense	probably damaging	1.00
R1664:Vmn2r94	UTSW	17	18244144	missense	probably damaging	0.99
R1716:Vmn2r94	UTSW	17	18257373	missense	probably benign	0.01
R1843:Vmn2r94	UTSW	17	18244470	missense	probably benign	0.01
R1882:Vmn2r94	UTSW	17	18244214	missense	probably benign	0.07
R1936:Vmn2r94	UTSW	17	18244292	nonsense	probably null
R2273:Vmn2r94	UTSW	17	18257331	missense	probably benign	0.00
R2508:Vmn2r94	UTSW	17	18257474	missense	probably benign	0.32
R3436:Vmn2r94	UTSW	17	18258388	splice site	probably benign
R3917:Vmn2r94	UTSW	17	18244358	missense	probably benign
R3968:Vmn2r94	UTSW	17	18258385	missense	possibly damaging	0.95
R3969:Vmn2r94	UTSW	17	18258385	missense	possibly damaging	0.95
R4257:Vmn2r94	UTSW	17	18244171	missense	probably damaging	1.00
R4271:Vmn2r94	UTSW	17	18243678	missense	probably damaging	1.00
R4349:Vmn2r94	UTSW	17	18244343	missense	probably benign	0.01
R4436:Vmn2r94	UTSW	17	18258383	missense	probably damaging	1.00
R4603:Vmn2r94	UTSW	17	18257385	missense	probably benign	0.33
R4821:Vmn2r94	UTSW	17	18257031	missense	probably benign	0.02
R5288:Vmn2r94	UTSW	17	18244466	missense	probably damaging	1.00
R5725:Vmn2r94	UTSW	17	18256227	missense	possibly damaging	0.88
R5735:Vmn2r94	UTSW	17	18243804	missense	probably damaging	1.00
R6066:Vmn2r94	UTSW	17	18257433	missense	probably damaging	0.99
R6124:Vmn2r94	UTSW	17	18244059	missense	probably benign	0.01
R6189:Vmn2r94	UTSW	17	18257734	missense	probably benign	0.25
R6245:Vmn2r94	UTSW	17	18258123	missense	probably damaging	1.00
R6574:Vmn2r94	UTSW	17	18256159	missense	probably damaging	1.00
R7236:Vmn2r94	UTSW	17	18257549	missense	possibly damaging	0.49
R7317:Vmn2r94	UTSW	17	18243620	missense	probably benign	0.00
R7398:Vmn2r94	UTSW	17	18257341	missense	probably benign	0.00
R7399:Vmn2r94	UTSW	17	18244503	critical splice acceptor site	probably null
R7478:Vmn2r94	UTSW	17	18257505	missense	probably benign
R8099:Vmn2r94	UTSW	17	18257397	missense	probably benign	0.00
R8189:Vmn2r94	UTSW	17	18258356	missense	probably damaging	1.00
R8217:Vmn2r94	UTSW	17	18243724	missense	probably damaging	1.00
R8303:Vmn2r94	UTSW	17	18244171	missense	probably damaging	1.00
R8543:Vmn2r94	UTSW	17	18243722	missense	possibly damaging	0.45
RF014:Vmn2r94	UTSW	17	18253287	nonsense	probably null
X0011:Vmn2r94	UTSW	17	18244448	missense	possibly damaging	0.76
X0028:Vmn2r94	UTSW	17	18243975	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTCATGACCCAGACAATCCATGTCAA -3'
(R):5'- GCCCAAATTGGGACATTGCTTCAAC -3'

Sequencing Primer
(F):5'- CCAGAAGCTTGTAAAATATGCAGTCC -3'
(R):5'- CTGAGCAAGTCCTTGAAACTTAC -3'

Posted On

2013-10-16