Mutagenetix > Incidental Mutation

Incidental Mutation 'R3820:Vmn2r60'

274856

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r60

Ensembl Gene

ENSMUSG00000090619

Gene Name

vomeronasal 2, receptor 60

Synonyms

Gprc2a-rs3, Casr-rs3, EG637898

MMRRC Submission

040882-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R3820 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42116471-42195776 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42135701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 112 (E112D)

Ref Sequence

ENSEMBL: ENSMUSP00000128493 (fasta)

Gene Model

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

AlphaFold

A0A3B2WBC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000166447
AA Change: E112D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128493
Gene: ENSMUSG00000090619
AA Change: E112D

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: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	T	18: 6,630,166		probably null	Het
4932438A13Rik	G	A	3: 37,040,434	V917I	probably damaging	Het
Aarsd1	T	A	11: 101,411,145	I332F	probably damaging	Het
Abcd2	C	T	15: 91,174,705	G512D	probably damaging	Het
Adam6a	T	C	12: 113,544,178	I57T	probably benign	Het
Adam6b	C	T	12: 113,490,364	T267I	probably benign	Het
Ap1g2	G	A	14: 55,100,573		probably benign	Het
Arhgap22	G	A	14: 33,367,421	E455K	probably benign	Het
Ccdc93	T	C	1: 121,462,240	I253T	probably damaging	Het
Cd44	T	C	2: 102,901,393		probably null	Het
Cnot6	A	T	11: 49,689,172	S98T	probably benign	Het
Dnah9	C	A	11: 65,851,003		probably null	Het
Edar	T	C	10: 58,621,363	Y131C	probably damaging	Het
Eif5	A	T	12: 111,540,184	R43*	probably null	Het
Eml4	C	A	17: 83,473,065	T667K	probably damaging	Het
Fam196b	T	C	11: 34,403,007	S350P	probably benign	Het
Fchsd1	A	G	18: 37,969,457		probably benign	Het
Flt1	A	G	5: 147,700,017		probably benign	Het
Frem2	T	A	3: 53,516,849	I3056F	probably damaging	Het
Hivep1	A	T	13: 42,184,311	H2622L	possibly damaging	Het
Ido2	T	C	8: 24,533,755	I356V	probably benign	Het
Itgb3	C	A	11: 104,633,612	Y191*	probably null	Het
Kcnma1	T	C	14: 23,299,938	T1178A	possibly damaging	Het
Kcnt1	A	G	2: 25,900,892	H486R	probably damaging	Het
Kif21a	T	C	15: 90,968,074	N950S	probably benign	Het
Lama1	C	A	17: 67,779,046		probably null	Het
Lrrc4b	T	A	7: 44,462,558	V618E	probably damaging	Het
Micall2	C	T	5: 139,715,856	G461D	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Ncoa6	T	A	2: 155,406,938	N1482I	probably damaging	Het
Pcdhga10	A	G	18: 37,747,942	N252S	probably damaging	Het
Pcdhgb7	C	A	18: 37,752,233	T152K	possibly damaging	Het
Pds5a	A	G	5: 65,654,076	V338A	possibly damaging	Het
Pds5b	T	C	5: 150,736,337	V255A	possibly damaging	Het
Prkar2a	T	G	9: 108,746,956	F391V	probably damaging	Het
Prr14l	A	G	5: 32,828,984	C1056R	probably damaging	Het
Ptpn23	A	G	9: 110,389,794		probably benign	Het
Serpinb5	T	A	1: 106,875,072	Y112*	probably null	Het
Slc17a4	C	T	13: 23,901,769	R387H	probably benign	Het
Tdrd5	A	G	1: 156,285,483	V409A	probably benign	Het
Tenm2	A	T	11: 36,024,320	I2129N	probably damaging	Het
Tmem8b	C	A	4: 43,689,745	H800N	probably damaging	Het
Trpm3	A	T	19: 22,987,449	N1436I	probably benign	Het
Unc13c	A	T	9: 73,930,958	S870R	probably benign	Het
Vmn2r16	C	T	5: 109,362,277	P509S	probably benign	Het
Xpnpep1	G	A	19: 53,003,819		probably benign	Het
Zfp729a	A	T	13: 67,621,319	C264S	probably damaging	Het
Zmynd8	T	A	2: 165,815,461	K521*	probably null	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
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
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'- ACCACTGCGCTAAATAGAAAAGTTG -3'
(R):5'- GGGTACTTGTTTCCTAGGTCCTAC -3'

Sequencing Primer
(F):5'- AGAAAAGTTGTATGGTCTATGGCTTC -3'
(R):5'- ACATCCCATTCCTCACCTGAG -3'

Posted On

2015-04-02