Mutagenetix > Incidental Mutation

Incidental Mutation 'R1862:Vmn2r52'

204025

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r52

Ensembl Gene

ENSMUSG00000091930

Gene Name

vomeronasal 2, receptor 52

Synonyms

EG384534

MMRRC Submission

039885-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9892579-9910213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9907333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 131 (C131Y)

Ref Sequence

ENSEMBL: ENSMUSP00000129352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164918]

AlphaFold

L7N2B2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164918
AA Change: C131Y

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129352
Gene: ENSMUSG00000091930
AA Change: C131Y

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	469	8.1e-29	PFAM
Pfam:NCD3G	512	565	1.5e-19	PFAM
Pfam:7tm_3	596	833	1.1e-55	PFAM

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	A	14: 8,241,416 (GRCm38)	E565D	probably benign	Het
Adam30	A	T	3: 98,069,429 (GRCm39)	K421*	probably null	Het
Atp6v1b1	A	G	6: 83,726,834 (GRCm39)		probably null	Het
Cacna1a	A	T	8: 85,142,559 (GRCm39)	I96F	possibly damaging	Het
Card10	G	A	15: 78,664,714 (GRCm39)	R747W	probably damaging	Het
Cdh8	T	A	8: 99,917,026 (GRCm39)	D363V	probably damaging	Het
Cecr2	T	C	6: 120,734,902 (GRCm39)	Y685H	probably damaging	Het
Cibar1	C	T	4: 12,155,717 (GRCm39)	V306I	possibly damaging	Het
Cmklr1	T	C	5: 113,752,468 (GRCm39)	T178A	probably damaging	Het
Col16a1	G	A	4: 129,986,575 (GRCm39)		probably null	Het
Col4a1	C	T	8: 11,276,439 (GRCm39)		probably benign	Het
Coro2a	T	A	4: 46,548,797 (GRCm39)	I166F	possibly damaging	Het
Cry2	T	C	2: 92,254,911 (GRCm39)	H148R	probably damaging	Het
Crygd	T	C	1: 65,101,133 (GRCm39)	Y154C	probably benign	Het
Cubn	T	C	2: 13,313,372 (GRCm39)	Y3066C	probably damaging	Het
Defb15	C	T	8: 22,420,002 (GRCm39)	E42K	possibly damaging	Het
Dnah12	A	G	14: 26,418,553 (GRCm39)	D147G	probably benign	Het
Dnah12	A	T	14: 26,430,412 (GRCm39)	Y340F	probably benign	Het
Dot1l	G	T	10: 80,619,373 (GRCm39)	R193L	probably damaging	Het
Dusp29	A	G	14: 21,736,757 (GRCm39)	V115A	probably benign	Het
Esd	A	C	14: 74,979,514 (GRCm39)	Y119S	probably damaging	Het
Esp36	A	G	17: 38,730,330 (GRCm39)		probably benign	Het
Etfbkmt	T	A	6: 149,045,649 (GRCm39)	M1K	probably null	Het
Exph5	A	G	9: 53,287,548 (GRCm39)	H1543R	probably benign	Het
Fbxo16	A	G	14: 65,508,252 (GRCm39)	T23A	probably damaging	Het
Gorasp2	C	A	2: 70,509,808 (GRCm39)	H136Q	probably damaging	Het
Hdc	T	A	2: 126,439,853 (GRCm39)	I367F	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ilvbl	A	G	10: 78,419,958 (GRCm39)	D592G	probably benign	Het
Inmt	G	A	6: 55,151,868 (GRCm39)	A34V	probably damaging	Het
Ints9	A	C	14: 65,263,862 (GRCm39)	H378P	probably benign	Het
Kcnh7	T	A	2: 62,618,098 (GRCm39)	I464L	possibly damaging	Het
Kcnt2	T	A	1: 140,353,068 (GRCm39)	V259D	probably damaging	Het
Lipo3	A	G	19: 33,762,092 (GRCm39)	F135S	probably damaging	Het
Lrba	T	C	3: 86,680,510 (GRCm39)		probably null	Het
Mapk1	T	A	16: 16,844,293 (GRCm39)	S22T	probably benign	Het
Mbd3l2	T	C	9: 18,356,217 (GRCm39)	S181P	possibly damaging	Het
Mgat5	C	T	1: 127,387,706 (GRCm39)	P554L	probably damaging	Het
Mki67	T	C	7: 135,301,090 (GRCm39)	T1315A	probably benign	Het
Mprip	C	T	11: 59,649,047 (GRCm39)	T917M	possibly damaging	Het
Mroh3	T	A	1: 136,113,726 (GRCm39)	I688F	probably benign	Het
Myo1d	A	T	11: 80,553,874 (GRCm39)	Y536N	probably damaging	Het
Neb	C	T	2: 52,052,199 (GRCm39)		probably null	Het
Noc2l	A	G	4: 156,322,165 (GRCm39)	R161G	probably benign	Het
Nup54	T	A	5: 92,567,426 (GRCm39)	I375L	possibly damaging	Het
Nup93	T	C	8: 95,032,730 (GRCm39)	F539L	probably damaging	Het
Or10x1	T	A	1: 174,197,018 (GRCm39)	H178Q	probably damaging	Het
Or2n1e	A	G	17: 38,586,235 (GRCm39)	E191G	probably damaging	Het
Or5p57	A	C	7: 107,665,932 (GRCm39)	Y24*	probably null	Het
Or8b12	T	A	9: 37,658,264 (GRCm39)	M278K	probably benign	Het
Panx1	A	T	9: 14,918,724 (GRCm39)	D378E	probably damaging	Het
Papss1	T	A	3: 131,288,945 (GRCm39)	V170D	possibly damaging	Het
Pcnx1	T	C	12: 81,965,506 (GRCm39)	S558P	probably damaging	Het
Pde3a	G	T	6: 141,433,239 (GRCm39)	A757S	probably damaging	Het
Pde3a	T	A	6: 141,196,079 (GRCm39)	I255N	probably damaging	Het
Pdzph1	A	G	17: 59,229,578 (GRCm39)	Y1027H	probably damaging	Het
Pkhd1	G	T	1: 20,621,244 (GRCm39)	R805S	probably benign	Het
Polr1a	G	A	6: 71,886,187 (GRCm39)	G14D	probably damaging	Het
Prg4	T	A	1: 150,336,420 (GRCm39)	D60V	probably damaging	Het
Ptgr3	T	C	18: 84,113,443 (GRCm39)	V373A	possibly damaging	Het
Ptprc	T	C	1: 138,039,965 (GRCm39)	S311G	probably benign	Het
Rapgefl1	G	A	11: 98,733,035 (GRCm39)	R205K	probably benign	Het
Rcan2	A	T	17: 44,347,980 (GRCm39)		probably null	Het
Rock1	A	G	18: 10,079,207 (GRCm39)	I1087T	probably damaging	Het
Sectm1b	A	G	11: 120,945,768 (GRCm39)	I191T	possibly damaging	Het
Septin4	A	G	11: 87,458,061 (GRCm39)	H145R	possibly damaging	Het
Setd1b	T	C	5: 123,285,676 (GRCm39)	S241P	unknown	Het
Slco1a8	T	C	6: 141,949,149 (GRCm39)	M76V	possibly damaging	Het
Srpk2	T	C	5: 23,729,148 (GRCm39)	K497R	probably benign	Het
Sspo	T	C	6: 48,467,940 (GRCm39)	S4296P	probably damaging	Het
Syne4	T	C	7: 30,016,308 (GRCm39)	V168A	probably benign	Het
Tank	T	C	2: 61,480,256 (GRCm39)	F264S	probably damaging	Het
Ticrr	T	C	7: 79,344,955 (GRCm39)	S1607P	probably damaging	Het
Trim30a	A	G	7: 104,060,405 (GRCm39)	V457A	probably damaging	Het
Trim43b	T	A	9: 88,967,624 (GRCm39)	K336N	probably damaging	Het
Trim47	T	C	11: 115,996,963 (GRCm39)	Q598R	probably damaging	Het
Tspan12	T	C	6: 21,851,022 (GRCm39)	N18S	probably damaging	Het
Ubap2	A	G	4: 41,221,607 (GRCm39)	S231P	probably benign	Het
Vit	A	G	17: 78,930,175 (GRCm39)	D380G	probably damaging	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Zfp58	A	T	13: 67,639,307 (GRCm39)	F395I	probably damaging	Het
Zfp940	C	A	7: 29,544,435 (GRCm39)	G491C	probably damaging	Het

Other mutations in Vmn2r52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Vmn2r52	APN	7	9,903,023 (GRCm39)	missense	probably benign	0.30
IGL00328:Vmn2r52	APN	7	9,905,344 (GRCm39)	missense	probably benign	0.12
IGL00980:Vmn2r52	APN	7	9,905,017 (GRCm39)	missense	probably damaging	1.00
IGL01468:Vmn2r52	APN	7	9,892,868 (GRCm39)	missense	probably damaging	1.00
IGL01660:Vmn2r52	APN	7	9,893,107 (GRCm39)	missense	probably damaging	0.97
IGL02215:Vmn2r52	APN	7	9,905,029 (GRCm39)	missense	probably damaging	0.97
IGL03030:Vmn2r52	APN	7	9,892,799 (GRCm39)	missense	probably benign	0.12
IGL03212:Vmn2r52	APN	7	9,893,474 (GRCm39)	missense	possibly damaging	0.47
FR4589:Vmn2r52	UTSW	7	9,892,947 (GRCm39)	missense	probably damaging	0.97
PIT4283001:Vmn2r52	UTSW	7	9,904,756 (GRCm39)	missense	possibly damaging	0.89
R0184:Vmn2r52	UTSW	7	9,893,265 (GRCm39)	missense	probably damaging	1.00
R0190:Vmn2r52	UTSW	7	9,905,315 (GRCm39)	missense	probably benign	0.00
R0240:Vmn2r52	UTSW	7	9,893,327 (GRCm39)	missense	probably damaging	0.99
R0240:Vmn2r52	UTSW	7	9,893,327 (GRCm39)	missense	probably damaging	0.99
R0257:Vmn2r52	UTSW	7	9,904,982 (GRCm39)	nonsense	probably null
R0310:Vmn2r52	UTSW	7	9,893,393 (GRCm39)	missense	probably damaging	1.00
R1831:Vmn2r52	UTSW	7	9,893,415 (GRCm39)	missense	probably damaging	1.00
R2484:Vmn2r52	UTSW	7	9,903,058 (GRCm39)	missense	probably damaging	0.96
R2510:Vmn2r52	UTSW	7	9,904,795 (GRCm39)	missense	probably benign
R3625:Vmn2r52	UTSW	7	9,893,105 (GRCm39)	missense	probably damaging	1.00
R3803:Vmn2r52	UTSW	7	9,907,439 (GRCm39)	missense	probably damaging	1.00
R4013:Vmn2r52	UTSW	7	9,904,603 (GRCm39)	missense	probably benign	0.00
R4283:Vmn2r52	UTSW	7	9,904,565 (GRCm39)	missense	possibly damaging	0.60
R4324:Vmn2r52	UTSW	7	9,904,940 (GRCm39)	missense	possibly damaging	0.94
R4578:Vmn2r52	UTSW	7	9,904,617 (GRCm39)	missense	probably damaging	1.00
R4806:Vmn2r52	UTSW	7	9,893,169 (GRCm39)	missense	probably damaging	1.00
R5083:Vmn2r52	UTSW	7	9,893,392 (GRCm39)	nonsense	probably null
R5249:Vmn2r52	UTSW	7	9,910,197 (GRCm39)	missense	probably benign
R5306:Vmn2r52	UTSW	7	9,904,672 (GRCm39)	missense	possibly damaging	0.88
R5332:Vmn2r52	UTSW	7	9,903,052 (GRCm39)	missense	probably benign	0.17
R5617:Vmn2r52	UTSW	7	9,904,861 (GRCm39)	missense	probably damaging	0.99
R5643:Vmn2r52	UTSW	7	9,905,059 (GRCm39)	missense	probably damaging	1.00
R5749:Vmn2r52	UTSW	7	9,892,959 (GRCm39)	missense	probably damaging	1.00
R5763:Vmn2r52	UTSW	7	9,905,231 (GRCm39)	missense	probably benign	0.01
R6103:Vmn2r52	UTSW	7	9,905,327 (GRCm39)	missense	probably benign	0.36
R6148:Vmn2r52	UTSW	7	9,905,090 (GRCm39)	missense	probably benign	0.00
R6356:Vmn2r52	UTSW	7	9,902,926 (GRCm39)	missense	probably benign	0.01
R6412:Vmn2r52	UTSW	7	9,904,936 (GRCm39)	missense	probably benign
R6657:Vmn2r52	UTSW	7	9,893,090 (GRCm39)	missense	probably damaging	0.99
R6997:Vmn2r52	UTSW	7	9,902,998 (GRCm39)	missense	probably benign	0.06
R7395:Vmn2r52	UTSW	7	9,904,744 (GRCm39)	missense	probably benign	0.00
R7621:Vmn2r52	UTSW	7	9,907,274 (GRCm39)	missense	probably benign	0.00
R7691:Vmn2r52	UTSW	7	9,893,109 (GRCm39)	missense	probably damaging	0.97
R7852:Vmn2r52	UTSW	7	9,892,895 (GRCm39)	missense	probably damaging	1.00
R7908:Vmn2r52	UTSW	7	9,896,877 (GRCm39)	missense	probably benign
R7909:Vmn2r52	UTSW	7	9,896,877 (GRCm39)	missense	probably benign
R7912:Vmn2r52	UTSW	7	9,896,877 (GRCm39)	missense	probably benign
R7913:Vmn2r52	UTSW	7	9,896,877 (GRCm39)	missense	probably benign
R7938:Vmn2r52	UTSW	7	9,893,300 (GRCm39)	missense	probably benign	0.12
R8884:Vmn2r52	UTSW	7	9,892,734 (GRCm39)	missense	probably damaging	1.00
R9003:Vmn2r52	UTSW	7	9,905,181 (GRCm39)	missense	probably benign	0.07
R9140:Vmn2r52	UTSW	7	9,892,643 (GRCm39)	missense	probably damaging	0.99
R9141:Vmn2r52	UTSW	7	9,905,331 (GRCm39)	nonsense	probably null
R9500:Vmn2r52	UTSW	7	9,905,281 (GRCm39)	missense	probably damaging	1.00
R9562:Vmn2r52	UTSW	7	9,893,476 (GRCm39)	missense	probably benign	0.22
R9564:Vmn2r52	UTSW	7	9,905,182 (GRCm39)	missense	probably benign	0.15
R9565:Vmn2r52	UTSW	7	9,893,476 (GRCm39)	missense	probably benign	0.22
R9597:Vmn2r52	UTSW	7	9,904,719 (GRCm39)	nonsense	probably null
R9743:Vmn2r52	UTSW	7	9,904,606 (GRCm39)	missense	possibly damaging	0.81
Z1176:Vmn2r52	UTSW	7	9,905,127 (GRCm39)	missense	probably damaging	0.97
Z1177:Vmn2r52	UTSW	7	9,903,117 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GCATAGATTGACCTAAGCATAAGTC -3'
(R):5'- TCGCTGTACTCTTTTACAGGAAAAC -3'

Sequencing Primer
(F):5'- GACCTAAGCATAAGTCTAATCTCATC -3'
(R):5'- CCACAAATATGCTTTGGC -3'

Posted On

2014-06-23