Mutagenetix > Incidental Mutation

Incidental Mutation 'R5249:Vmn2r52'

398788

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r52

Ensembl Gene

ENSMUSG00000091930

Gene Name

vomeronasal 2, receptor 52

Synonyms

EG384534

MMRRC Submission

042820-MU

Accession Numbers

Essential gene?

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

Stock #

R5249 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9892579-9910213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 9910197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 6 (R6L)

Ref Sequence

ENSEMBL: ENSMUSP00000129352 (fasta)

Gene Model

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

AlphaFold

L7N2B2

Predicted Effect

probably benign
Transcript: ENSMUST00000164918
AA Change: R6L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129352
Gene: ENSMUSG00000091930
AA Change: R6L

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,284 (GRCm39)	H148R	probably damaging	Het
Acrbp	A	G	6: 125,037,885 (GRCm39)	D394G	probably damaging	Het
Adam18	T	C	8: 25,115,868 (GRCm39)	T609A	probably benign	Het
Adam25	T	A	8: 41,208,991 (GRCm39)	N752K	probably benign	Het
Ano6	A	C	15: 95,811,469 (GRCm39)	S176R	probably benign	Het
Ano7	T	C	1: 93,302,918 (GRCm39)	S19P	probably benign	Het
Ap1b1	A	G	11: 4,976,364 (GRCm39)	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,095,982 (GRCm39)	C46*	probably null	Het
Arhgef26	T	A	3: 62,247,981 (GRCm39)	L355Q	probably damaging	Het
B4galnt4	C	T	7: 140,644,983 (GRCm39)	T219I	probably damaging	Het
Bap1	C	T	14: 30,979,243 (GRCm39)		probably benign	Het
Catip	T	G	1: 74,401,954 (GRCm39)	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,805,282 (GRCm39)	R331C	unknown	Het
Cep85l	T	C	10: 53,195,690 (GRCm39)		probably null	Het
Cfap206	T	A	4: 34,714,502 (GRCm39)	Q398L	probably benign	Het
Clec18a	A	G	8: 111,800,368 (GRCm39)	C352R	probably damaging	Het
Clic6	A	T	16: 92,336,339 (GRCm39)	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,270,034 (GRCm39)		probably benign	Het
Cyb5r3	A	C	15: 83,042,836 (GRCm39)		probably benign	Het
Dnah6	C	T	6: 73,090,471 (GRCm39)	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,890,879 (GRCm39)	R296L	probably damaging	Het
Dtwd1	C	A	2: 125,996,694 (GRCm39)	Q60K	probably benign	Het
Esyt1	C	A	10: 128,352,443 (GRCm39)	V723L	probably benign	Het
Fbxo42	T	C	4: 140,926,335 (GRCm39)	L339P	probably damaging	Het
Furin	A	T	7: 80,043,169 (GRCm39)	N347K	probably damaging	Het
Fzd7	T	C	1: 59,522,522 (GRCm39)	M135T	probably damaging	Het
Garin1b	A	G	6: 29,323,896 (GRCm39)	D207G	probably damaging	Het
Hlf	A	G	11: 90,278,632 (GRCm39)	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,648 (GRCm39)	Q174*	probably null	Het
Kcnb1	T	A	2: 166,947,103 (GRCm39)	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692 (GRCm39)	Y391H	probably damaging	Het
Khdc4	T	A	3: 88,604,032 (GRCm39)	I283N	probably damaging	Het
Kif21b	C	T	1: 136,096,966 (GRCm39)	T1297M	probably damaging	Het
Krt8	T	G	15: 101,906,875 (GRCm39)	N317T	possibly damaging	Het
Lctl	G	T	9: 64,045,196 (GRCm39)	V372L	probably benign	Het
Lig1	C	T	7: 13,042,432 (GRCm39)	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,111,988 (GRCm39)	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,582,275 (GRCm39)	H10Y	probably benign	Het
Med1	A	T	11: 98,048,066 (GRCm39)	M910K	probably benign	Het
Mia2	A	T	12: 59,154,911 (GRCm39)	D209V	probably damaging	Het
Mpp4	C	T	1: 59,184,017 (GRCm39)		probably benign	Het
Mrgprb1	A	T	7: 48,097,225 (GRCm39)	V229E	possibly damaging	Het
Mtor	T	A	4: 148,548,189 (GRCm39)	C485S	probably damaging	Het
Mx1	T	C	16: 97,258,628 (GRCm39)	D23G	probably damaging	Het
Myrfl	T	C	10: 116,619,138 (GRCm39)	D740G	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nav2	G	A	7: 49,185,661 (GRCm39)	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,110,914 (GRCm39)	N262K	possibly damaging	Het
Opa1	A	T	16: 29,437,077 (GRCm39)	D699V	probably damaging	Het
Or10u4	C	T	10: 129,802,078 (GRCm39)	A164T	probably benign	Het
Or8b51	A	G	9: 38,569,374 (GRCm39)	C105R	possibly damaging	Het
Otud7a	A	G	7: 63,407,181 (GRCm39)	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,320,950 (GRCm39)	D53G	probably benign	Het
Pdcd5	A	G	7: 35,346,421 (GRCm39)		probably benign	Het
Phf21a	C	T	2: 92,058,822 (GRCm39)	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,777,406 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,535,496 (GRCm39)	Q423R	probably damaging	Het
Pum1	A	T	4: 130,490,125 (GRCm39)	Y699F	probably benign	Het
Rabgef1	A	G	5: 130,241,841 (GRCm39)	D415G	probably benign	Het
Rapgef6	A	G	11: 54,413,943 (GRCm39)	E23G	probably benign	Het
Rpia	G	T	6: 70,760,563 (GRCm39)	C121*	probably null	Het
Sanbr	A	G	11: 23,525,483 (GRCm39)	*719Q	probably null	Het
Serpinb13	T	A	1: 106,926,427 (GRCm39)	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,065,456 (GRCm39)	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,055,858 (GRCm39)		probably benign	Het
Slamf6	A	C	1: 171,764,249 (GRCm39)	N214T	probably damaging	Het
Slc7a2	T	C	8: 41,361,130 (GRCm39)	Y365H	possibly damaging	Het
Sox18	T	C	2: 181,312,971 (GRCm39)		probably null	Het
Spink7	A	T	18: 62,725,507 (GRCm39)	F79I	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Sspo	A	T	6: 48,470,244 (GRCm39)	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,653,793 (GRCm39)	K700R	probably benign	Het
Tcf25	G	T	8: 124,115,372 (GRCm39)	R203L	probably damaging	Het
Tcp11	T	C	17: 28,290,757 (GRCm39)	I201V	possibly damaging	Het
Tex2	T	C	11: 106,437,615 (GRCm39)	D685G	unknown	Het
Themis	G	T	10: 28,637,195 (GRCm39)	E100*	probably null	Het
Tmem52b	G	A	6: 129,491,221 (GRCm39)		probably null	Het
Tnr	C	T	1: 159,512,226 (GRCm39)		probably benign	Het
Tox3	T	C	8: 90,975,444 (GRCm39)	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828 (GRCm39)	E269V	probably benign	Het
Tulp1	C	T	17: 28,581,651 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ube2j2	A	C	4: 156,033,515 (GRCm39)	K30Q	possibly damaging	Het
Usp19	T	A	9: 108,369,807 (GRCm39)	M1K	probably null	Het
Zbed4	G	A	15: 88,665,290 (GRCm39)	V453M	probably benign	Het
Zfp319	T	C	8: 96,055,099 (GRCm39)	E368G	probably benign	Het
Zfp366	A	C	13: 99,366,117 (GRCm39)	E426A	probably damaging	Het
Zfp687	A	T	3: 94,916,777 (GRCm39)	I783N	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
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
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'- ACGAGACATTAAGAGTCTCCTTG -3'
(R):5'- TGTGGACACCAATTGCAGAAC -3'

Sequencing Primer
(F):5'- ATCTGAACTGCTCCAAGG -3'
(R):5'- TTAAGAATTCCTCCAGGGCTCAGG -3'

Posted On

2016-07-06