Mutagenetix > Incidental Mutation

Incidental Mutation 'R4283:Vmn2r52'

321951

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r52

Ensembl Gene

ENSMUSG00000091930

Gene Name

vomeronasal 2, receptor 52

Synonyms

EG384534

MMRRC Submission

041651-MU

Accession Numbers

Essential gene?

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

Stock #

R4283 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9892579-9910213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9904565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 425 (G425R)

Ref Sequence

ENSEMBL: ENSMUSP00000129352 (fasta)

Gene Model

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

AlphaFold

L7N2B2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164918
AA Change: G425R

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129352
Gene: ENSMUSG00000091930
AA Change: G425R

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	G	11: 117,697,087 (GRCm39)	T229A	probably benign	Het
Adgrg5	T	G	8: 95,664,326 (GRCm39)	V312G	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Camk2b	A	C	11: 5,937,099 (GRCm39)	S327A	probably benign	Het
Card9	A	G	2: 26,247,309 (GRCm39)	I280T	possibly damaging	Het
Cd274	A	T	19: 29,357,871 (GRCm39)	M188L	probably benign	Het
Cga	T	C	4: 34,905,264 (GRCm39)		probably null	Het
Copg1	C	T	6: 87,885,527 (GRCm39)	T723M	probably damaging	Het
Cplx2	A	G	13: 54,527,377 (GRCm39)	E87G	probably damaging	Het
Crtc2	A	G	3: 90,166,543 (GRCm39)		probably benign	Het
Defa27	A	G	8: 21,805,632 (GRCm39)	N24S	probably benign	Het
Defb40	A	G	8: 19,028,093 (GRCm39)	S14P	probably damaging	Het
Dnmt3a	G	A	12: 3,951,665 (GRCm39)	G681R	probably damaging	Het
Ghr	C	A	15: 3,362,930 (GRCm39)	V181L	possibly damaging	Het
Gm10750	A	G	2: 148,857,916 (GRCm39)	F112L	unknown	Het
Gm17541	A	G	12: 4,739,656 (GRCm39)		probably benign	Het
Gmip	T	A	8: 70,266,251 (GRCm39)		probably benign	Het
Hdac10	A	G	15: 89,009,826 (GRCm39)	L402P	possibly damaging	Het
Hsd17b12	G	C	2: 93,863,931 (GRCm39)	R304G	unknown	Het
Iqgap3	T	C	3: 88,006,167 (GRCm39)	V526A	probably benign	Het
Ncaph	A	G	2: 126,963,005 (GRCm39)		probably benign	Het
Ninl	T	C	2: 150,795,336 (GRCm39)		probably benign	Het
Pcgf1	T	A	6: 83,056,714 (GRCm39)	L90Q	probably damaging	Het
Pcsk4	C	A	10: 80,165,287 (GRCm39)		probably benign	Het
Ptpn21	T	C	12: 98,699,734 (GRCm39)	E60G	probably damaging	Het
Rec8	A	G	14: 55,856,091 (GRCm39)	H11R	probably damaging	Het
Ric1	A	G	19: 29,563,950 (GRCm39)	Y568C	probably damaging	Het
Slc17a6	A	G	7: 51,294,824 (GRCm39)	Y177C	probably damaging	Het
Tas2r104	C	T	6: 131,662,374 (GRCm39)	A112T	probably damaging	Het
Tas2r123	G	A	6: 132,825,008 (GRCm39)	V302I	possibly damaging	Het
Tas2r143	T	A	6: 42,378,007 (GRCm39)		probably null	Het
Tfeb	A	G	17: 48,100,699 (GRCm39)	E305G	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Upf2	A	G	2: 5,978,369 (GRCm39)	N411S	unknown	Het
Zfp28	A	T	7: 6,396,700 (GRCm39)	Q378H	probably benign	Het
Zfp429	A	C	13: 67,538,914 (GRCm39)	C177G	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
R1862:Vmn2r52	UTSW	7	9,907,333 (GRCm39)	missense	possibly damaging	0.94
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
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'- CCCCGAAATTTTCATCGATAATCTGTG -3'
(R):5'- ACTGTGAAGACTCAGCATGTAAC -3'

Sequencing Primer
(F):5'- CTAGACATCTGAGAGACACTA -3'
(R):5'- ACTCAGCATGTAACTGTAAAATACTG -3'

Posted On

2015-06-20