Mutagenetix > Incidental Mutation

Incidental Mutation 'R5231:Vmn2r60'

398518

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r60

Ensembl Gene

ENSMUSG00000090619

Gene Name

vomeronasal 2, receptor 60

Synonyms

Gprc2a-rs3, Casr-rs3, EG637898

MMRRC Submission

042803-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5231 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42116471-42195776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42137024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 417 (Q417L)

Ref Sequence

ENSEMBL: ENSMUSP00000128493 (fasta)

Gene Model

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

AlphaFold

A0A3B2WBC8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166447
AA Change: Q417L

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128493
Gene: ENSMUSG00000090619
AA Change: Q417L

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,683,951	H716L	possibly damaging	Het
9130019O22Rik	T	C	7: 127,385,414	Y172C	probably damaging	Het
Adat3	T	C	10: 80,606,426	S33P	possibly damaging	Het
Bche	G	A	3: 73,700,861	P411S	probably benign	Het
Chil3	A	G	3: 106,155,729	S182P	probably damaging	Het
Col6a4	T	C	9: 106,025,531	E1653G	probably damaging	Het
Csk	G	T	9: 57,630,378	H84Q	probably damaging	Het
Csmd2	A	G	4: 128,546,049	T3099A	probably benign	Het
Deup1	G	T	9: 15,575,199	A395E	probably damaging	Het
Frem2	T	C	3: 53,522,295	Y2778C	probably damaging	Het
Gm10020	T	C	15: 52,478,044		noncoding transcript	Het
Igfn1	T	C	1: 135,966,736	T2031A	probably benign	Het
Ighv1-53	C	A	12: 115,158,605	S50I	probably benign	Het
Ighv1-62-3	A	T	12: 115,461,051	M100K	possibly damaging	Het
Igkv2-109	T	A	6: 68,302,445	F3I	probably benign	Het
Isl1	T	C	13: 116,301,657	D296G	probably benign	Het
Klk1b16	T	A	7: 44,137,347	L10Q	probably damaging	Het
Kmt2c	A	T	5: 25,315,473	S1880T	possibly damaging	Het
Lhcgr	T	A	17: 88,755,611	N211I	probably damaging	Het
Ltb	C	T	17: 35,195,826	L201F	probably damaging	Het
Mfsd2a	A	G	4: 122,959,301	F64S	possibly damaging	Het
Mmp10	T	C	9: 7,502,500		probably null	Het
Mycbp2	A	C	14: 103,346,214		probably null	Het
Olfr1499	A	T	19: 13,815,347	I81N	probably damaging	Het
Olfr181	T	C	16: 58,925,714	I286V	possibly damaging	Het
Olfr394	C	A	11: 73,887,955	C139F	probably damaging	Het
Olfr589	A	T	7: 103,154,968	F260I	probably damaging	Het
Peg10	C	T	6: 4,756,939		probably benign	Het
Plscr1	C	A	9: 92,266,731	P208H	probably damaging	Het
Rhot1	T	C	11: 80,227,334		probably null	Het
Smarcc2	T	C	10: 128,461,352	Y38H	probably damaging	Het
Stat2	T	C	10: 128,281,242		probably null	Het
Trip11	T	C	12: 101,885,601	K735E	probably damaging	Het
Ttll1	T	A	15: 83,489,466		probably null	Het
Vmn2r37	C	A	7: 9,206,595	L639F	possibly damaging	Het
Vps8	A	T	16: 21,576,725	D1255V	probably damaging	Het
Zfp354b	A	C	11: 50,923,090	I336S	probably benign	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
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
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
R7764:Vmn2r60	UTSW	7	42195111	missense	probably damaging	0.99
R7843:Vmn2r60	UTSW	7	42195087	missense	probably benign	0.00
R8080:Vmn2r60	UTSW	7	42141097	missense	probably benign	0.30
R8290:Vmn2r60	UTSW	7	42142266	missense	probably damaging	1.00
R8342:Vmn2r60	UTSW	7	42141070	missense	possibly damaging	0.63
R8362:Vmn2r60	UTSW	7	42195530	missense	probably damaging	1.00
R8418:Vmn2r60	UTSW	7	42195426	missense	probably damaging	0.97
R8848:Vmn2r60	UTSW	7	42136745	missense	probably damaging	1.00
R8860:Vmn2r60	UTSW	7	42142230	missense	probably damaging	0.99
R8882:Vmn2r60	UTSW	7	42141094	missense	probably benign	0.00
R8913:Vmn2r60	UTSW	7	42136354	missense	probably benign	0.27
R9190:Vmn2r60	UTSW	7	42195511	missense	probably damaging	0.99
R9229:Vmn2r60	UTSW	7	42142299	missense	possibly damaging	0.95
R9295:Vmn2r60	UTSW	7	42136531	missense	probably benign	0.01
R9335:Vmn2r60	UTSW	7	42194908	missense	probably damaging	1.00
R9796:Vmn2r60	UTSW	7	42135748	missense	probably benign
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'- GACAACTATCTTCCTAAGTTTTGGC -3'
(R):5'- CCTCTCTTGCTTATTGACAGCATAG -3'

Sequencing Primer
(F):5'- ACTATCTTCCTAAGTTTTGGCATTTG -3'
(R):5'- TGCTTATTGACAGCATAGTCTAAAAC -3'

Posted On

2016-07-06