Mutagenetix > Incidental Mutations

Incidental Mutation 'R1404:Vmn2r60'

188656

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r60

Ensembl Gene

ENSMUSG00000090619

Gene Name

vomeronasal 2, receptor 60

Synonyms

Gprc2a-rs3, Casr-rs3, EG637898

MMRRC Submission

039466-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R1404 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42116471-42195776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42136787 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 338 (V338D)

Ref Sequence

ENSEMBL: ENSMUSP00000128493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166447]

Predicted Effect

probably damaging
Transcript: ENSMUST00000166447
AA Change: V338D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128493
Gene: ENSMUSG00000090619
AA Change: V338D

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	78	471	1.2e-44	PFAM
Pfam:NCD3G	514	567	5.1e-23	PFAM
Pfam:7tm_3	600	835	1.4e-51	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

100% (28/28)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,059,253		probably benign	Het
Actl6a	T	C	3: 32,722,610		probably benign	Het
Aox2	T	C	1: 58,346,212		probably benign	Het
Arrdc3	A	G	13: 80,883,854	T69A	probably damaging	Het
Bbs2	T	C	8: 94,081,999	K360R	probably null	Het
Cdh8	A	T	8: 99,279,618	N112K	probably damaging	Het
Ces5a	A	T	8: 93,502,181	F474I	probably damaging	Het
Doxl2	A	T	6: 48,975,833	T231S	probably benign	Het
Dync1i1	G	A	6: 5,915,876	D253N	probably damaging	Het
Fam151b	T	C	13: 92,473,972	D103G	probably damaging	Het
Fam227b	A	G	2: 126,003,839	L410P	probably damaging	Het
Ihh	A	T	1: 74,951,213	M1K	probably null	Het
Itga6	A	G	2: 71,838,716	T617A	probably benign	Het
Itpr1	T	A	6: 108,386,648	C744S	probably benign	Het
Kif5a	T	C	10: 127,245,442	I208V	probably benign	Het
Lama4	A	G	10: 39,061,391	K659R	probably benign	Het
Lpin3	T	A	2: 160,892,390		probably null	Het
Macf1	T	A	4: 123,376,516	E6612V	probably damaging	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Ncdn	T	C	4: 126,750,040	K330E	probably benign	Het
Neb	C	T	2: 52,183,275	D1975N	possibly damaging	Het
Nell1	T	A	7: 50,853,873	N675K	possibly damaging	Het
Nlrp6	GAGAAGAAGAAGAAGAAGAAGA	GAGAAGAAGAAGAAGAAGA	7: 140,924,113		probably benign	Het
Olfr1317	G	A	2: 112,142,623	R226H	probably benign	Het
Rnf43	A	G	11: 87,734,177	E737G	possibly damaging	Het
Sardh	C	A	2: 27,239,461	W275L	probably damaging	Het
Sel1l2	C	T	2: 140,230,059		probably benign	Het
Sipa1l2	G	A	8: 125,449,973	H1185Y	probably damaging	Het
Skp2	G	A	15: 9,116,925	Q298*	probably null	Het
Spag16	G	A	1: 69,895,280		probably benign	Het
Spink14	A	G	18: 44,028,829		probably benign	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Stx12	T	A	4: 132,871,649	I43L	probably benign	Het
Tmc1	T	A	19: 20,816,184	I538F	possibly damaging	Het
Tollip	T	C	7: 141,884,555	M209V	probably benign	Het
Ttn	A	T	2: 76,812,968	S13202R	probably damaging	Het
Vwa8	T	C	14: 79,026,031	L767P	probably damaging	Het
Zfp202	C	T	9: 40,211,496	T518I	probably damaging	Het

Other mutations in Vmn2r60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Vmn2r60	APN	7	42136486	missense	probably benign	0.09
IGL01623:Vmn2r60	APN	7	42136486	missense	probably benign	0.09
IGL02363:Vmn2r60	APN	7	42195154	missense	probably benign	0.02
IGL02485:Vmn2r60	APN	7	42195466	missense	possibly damaging	0.54
IGL02651:Vmn2r60	APN	7	42195586	missense	probably damaging	0.99
IGL02660:Vmn2r60	APN	7	42142296	nonsense	probably null
IGL03135:Vmn2r60	APN	7	42136594	missense	probably benign	0.13
IGL03307:Vmn2r60	APN	7	42116547	missense	probably benign	0.14
R0310:Vmn2r60	UTSW	7	42195140	missense	possibly damaging	0.54
R0314:Vmn2r60	UTSW	7	42135561	splice site	probably benign
R0328:Vmn2r60	UTSW	7	42142320	splice site	probably benign
R0464:Vmn2r60	UTSW	7	42135831	missense	probably damaging	0.99
R0755:Vmn2r60	UTSW	7	42195445	missense	probably damaging	1.00
R1119:Vmn2r60	UTSW	7	42194941	missense	possibly damaging	0.68
R1162:Vmn2r60	UTSW	7	42195771	missense	probably benign	0.29
R1241:Vmn2r60	UTSW	7	42137052	missense	probably benign	0.01
R1404:Vmn2r60	UTSW	7	42136787	missense	probably damaging	0.99
R1488:Vmn2r60	UTSW	7	42136713	missense	probably benign	0.17
R1623:Vmn2r60	UTSW	7	42135855	nonsense	probably null
R1628:Vmn2r60	UTSW	7	42136406	nonsense	probably null
R1883:Vmn2r60	UTSW	7	42136670	missense	probably damaging	0.99
R1884:Vmn2r60	UTSW	7	42136670	missense	probably damaging	0.99
R2182:Vmn2r60	UTSW	7	42195507	missense	probably benign	0.06
R2275:Vmn2r60	UTSW	7	42136827	nonsense	probably null
R2847:Vmn2r60	UTSW	7	42136433	missense	probably benign	0.07
R2885:Vmn2r60	UTSW	7	42140979	missense	possibly damaging	0.91
R2894:Vmn2r60	UTSW	7	42135796	missense	probably benign
R2921:Vmn2r60	UTSW	7	42141035	missense	probably damaging	0.98
R2922:Vmn2r60	UTSW	7	42141035	missense	probably damaging	0.98
R3772:Vmn2r60	UTSW	7	42116556	missense	probably benign	0.35
R3820:Vmn2r60	UTSW	7	42135701	missense	probably damaging	0.98
R3822:Vmn2r60	UTSW	7	42135701	missense	probably damaging	0.98
R3872:Vmn2r60	UTSW	7	42136454	missense	probably benign	0.19
R4222:Vmn2r60	UTSW	7	42116528	missense	probably benign	0.08
R4223:Vmn2r60	UTSW	7	42116528	missense	probably benign	0.08
R4224:Vmn2r60	UTSW	7	42116528	missense	probably benign	0.08
R4526:Vmn2r60	UTSW	7	42195243	missense	probably damaging	0.96
R4547:Vmn2r60	UTSW	7	42135663	missense	probably null	0.54
R4840:Vmn2r60	UTSW	7	42135861	missense	probably damaging	1.00
R5173:Vmn2r60	UTSW	7	42195511	missense	probably damaging	0.97
R5231:Vmn2r60	UTSW	7	42137024	missense	possibly damaging	0.93
R5480:Vmn2r60	UTSW	7	42135730	missense	probably damaging	0.98
R5521:Vmn2r60	UTSW	7	42195625	missense	probably damaging	0.99
R5834:Vmn2r60	UTSW	7	42116508	missense	probably benign	0.17
R6038:Vmn2r60	UTSW	7	42194962	missense	probably benign	0.04
R6038:Vmn2r60	UTSW	7	42194962	missense	probably benign	0.04
R6112:Vmn2r60	UTSW	7	42195423	missense	probably damaging	1.00
R6149:Vmn2r60	UTSW	7	42136976	missense	probably damaging	1.00
R6170:Vmn2r60	UTSW	7	42135621	missense	possibly damaging	0.94
R6383:Vmn2r60	UTSW	7	42116471	start codon destroyed	probably null	0.04
R6811:Vmn2r60	UTSW	7	42194886	missense	probably damaging	1.00
R6876:Vmn2r60	UTSW	7	42135663	missense	probably null	0.54
R6997:Vmn2r60	UTSW	7	42142292	missense	probably benign	0.00
R7040:Vmn2r60	UTSW	7	42142242	missense	probably benign	0.00
R7116:Vmn2r60	UTSW	7	42137063	missense	probably benign	0.00
R7128:Vmn2r60	UTSW	7	42195112	missense	probably damaging	0.96
R7232:Vmn2r60	UTSW	7	42136742	missense	possibly damaging	0.83
R7296:Vmn2r60	UTSW	7	42136402	missense	probably benign	0.01
R7376:Vmn2r60	UTSW	7	42195207	missense	probably damaging	1.00
R7526:Vmn2r60	UTSW	7	42195734	frame shift	probably null
R7527:Vmn2r60	UTSW	7	42195734	frame shift	probably null
R7528:Vmn2r60	UTSW	7	42195734	frame shift	probably null
R7529:Vmn2r60	UTSW	7	42195734	frame shift	probably null
R7764:Vmn2r60	UTSW	7	42195111	missense	probably damaging	0.99
RF024:Vmn2r60	UTSW	7	42140939	missense	probably benign	0.01
X0023:Vmn2r60	UTSW	7	42141114	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCGAAGACACATCTCTGCCATTTGC -3'
(R):5'- TCTCATGGAGACTATAGGCCACAGC -3'

Sequencing Primer
(F):5'- ATCTCTGGCACATGGAATGC -3'
(R):5'- CAGCATTGTATATATTGTAGCCTTCC -3'

Posted On

2014-05-09