Mutagenetix > Incidental Mutation

Incidental Mutation 'R2974:Vmn2r117'

255333

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r117

Ensembl Gene

ENSMUSG00000091407

Gene Name

vomeronasal 2, receptor 117

Synonyms

EG619788, V2Rp6

MMRRC Submission

040527-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R2974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23678649-23698571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23678830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 798 (V798A)

Ref Sequence

ENSEMBL: ENSMUSP00000126885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171996]

AlphaFold

K7N6V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000171996
AA Change: V798A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: V798A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	471	2.6e-28	PFAM
Pfam:NCD3G	512	565	5e-20	PFAM
Pfam:7tm_3	595	833	8.2e-54	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	G	10: 79,844,801 (GRCm39)	F1508V	probably damaging	Het
Aoc1l1	A	G	6: 48,953,358 (GRCm39)	T428A	probably benign	Het
BC048507	T	C	13: 68,011,749 (GRCm39)	I42T	probably benign	Het
Cop1	A	G	1: 159,152,499 (GRCm39)	H583R	possibly damaging	Het
Crnkl1	A	G	2: 145,774,181 (GRCm39)	L94P	probably benign	Het
Cstdc2	T	C	2: 148,692,706 (GRCm39)	D32G	probably benign	Het
Ctu1	A	G	7: 43,325,074 (GRCm39)		probably benign	Het
D930007J09Rik	C	T	13: 32,986,742 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,091,361 (GRCm39)		probably null	Het
Dnah14	A	T	1: 181,582,806 (GRCm39)		probably null	Het
Dpp10	A	G	1: 123,339,434 (GRCm39)		probably benign	Het
Gsdme	A	G	6: 50,206,304 (GRCm39)	C180R	probably damaging	Het
Gse1	C	A	8: 121,297,636 (GRCm39)		probably benign	Het
Med15	T	C	16: 17,470,575 (GRCm39)	Y744C	probably damaging	Het
Nlrp4d	A	G	7: 10,112,367 (GRCm39)		probably benign	Het
Nyap2	C	T	1: 81,169,485 (GRCm39)	R81*	probably null	Het
Or4p21	A	T	2: 88,276,918 (GRCm39)	C121*	probably null	Het
Or8g30	T	C	9: 39,230,292 (GRCm39)	N206S	probably damaging	Het
Phax	T	A	18: 56,706,134 (GRCm39)	M8K	probably benign	Het
Plec	C	G	15: 76,072,961 (GRCm39)	G631R	probably damaging	Het
Rgs3	A	T	4: 62,558,957 (GRCm39)	T476S	probably damaging	Het
Rogdi	G	T	16: 4,829,526 (GRCm39)	Q90K	probably damaging	Het
Rxrg	G	A	1: 167,466,715 (GRCm39)	R422H	probably damaging	Het
Serpinb9e	T	A	13: 33,439,126 (GRCm39)	V184E	probably benign	Het
Simc1	A	G	13: 54,698,274 (GRCm39)	D397G	probably damaging	Het
Slc25a27	T	C	17: 43,964,262 (GRCm39)	N203D	probably damaging	Het
Slit1	G	A	19: 41,599,455 (GRCm39)	P1032L	probably benign	Het
Sptlc3	A	G	2: 139,431,581 (GRCm39)	T368A	probably damaging	Het
Tnip1	C	T	11: 54,824,809 (GRCm39)		probably benign	Het
Tpgs1	A	G	10: 79,505,449 (GRCm39)	E69G	probably damaging	Het
Trpv5	T	C	6: 41,630,165 (GRCm39)	S642G	possibly damaging	Het
Ube2d2a	T	A	18: 35,933,225 (GRCm39)	D87E	possibly damaging	Het
Vmn2r77	T	C	7: 86,452,893 (GRCm39)	Y537H	probably benign	Het

Other mutations in Vmn2r117

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Vmn2r117	APN	17	23,698,520 (GRCm39)	missense	probably benign
IGL00990:Vmn2r117	APN	17	23,696,814 (GRCm39)	missense	probably damaging	1.00
IGL00990:Vmn2r117	APN	17	23,694,403 (GRCm39)	missense	probably damaging	1.00
IGL01078:Vmn2r117	APN	17	23,696,778 (GRCm39)	missense	probably damaging	1.00
IGL01139:Vmn2r117	APN	17	23,696,778 (GRCm39)	missense	probably damaging	1.00
IGL01374:Vmn2r117	APN	17	23,697,356 (GRCm39)	missense	possibly damaging	0.46
IGL01779:Vmn2r117	APN	17	23,696,215 (GRCm39)	missense	probably benign	0.00
IGL02283:Vmn2r117	APN	17	23,694,356 (GRCm39)	missense	probably damaging	0.99
IGL02527:Vmn2r117	APN	17	23,696,199 (GRCm39)	missense	possibly damaging	0.65
IGL02612:Vmn2r117	APN	17	23,678,758 (GRCm39)	missense	possibly damaging	0.91
IGL02887:Vmn2r117	APN	17	23,694,552 (GRCm39)	splice site	probably benign
IGL03167:Vmn2r117	APN	17	23,696,681 (GRCm39)	missense	probably damaging	1.00
R0315:Vmn2r117	UTSW	17	23,679,139 (GRCm39)	missense	probably benign	0.11
R0610:Vmn2r117	UTSW	17	23,694,488 (GRCm39)	missense	probably benign	0.00
R0747:Vmn2r117	UTSW	17	23,694,477 (GRCm39)	nonsense	probably null
R1411:Vmn2r117	UTSW	17	23,679,527 (GRCm39)	missense	probably damaging	1.00
R1471:Vmn2r117	UTSW	17	23,697,447 (GRCm39)	missense	probably benign	0.00
R1853:Vmn2r117	UTSW	17	23,696,429 (GRCm39)	missense	probably damaging	0.99
R1925:Vmn2r117	UTSW	17	23,697,363 (GRCm39)	missense	probably benign	0.00
R1940:Vmn2r117	UTSW	17	23,696,454 (GRCm39)	missense	probably damaging	1.00
R2005:Vmn2r117	UTSW	17	23,696,618 (GRCm39)	missense	probably damaging	1.00
R2082:Vmn2r117	UTSW	17	23,679,230 (GRCm39)	missense	possibly damaging	0.55
R2698:Vmn2r117	UTSW	17	23,678,885 (GRCm39)	missense	probably damaging	0.98
R2972:Vmn2r117	UTSW	17	23,678,830 (GRCm39)	missense	probably damaging	1.00
R2973:Vmn2r117	UTSW	17	23,678,830 (GRCm39)	missense	probably damaging	1.00
R3160:Vmn2r117	UTSW	17	23,679,352 (GRCm39)	missense	probably damaging	1.00
R3161:Vmn2r117	UTSW	17	23,679,352 (GRCm39)	missense	probably damaging	1.00
R3162:Vmn2r117	UTSW	17	23,679,352 (GRCm39)	missense	probably damaging	1.00
R3847:Vmn2r117	UTSW	17	23,679,389 (GRCm39)	missense	probably damaging	0.97
R3848:Vmn2r117	UTSW	17	23,679,389 (GRCm39)	missense	probably damaging	0.97
R4082:Vmn2r117	UTSW	17	23,679,080 (GRCm39)	missense	probably benign	0.00
R4320:Vmn2r117	UTSW	17	23,698,487 (GRCm39)	frame shift	probably null
R4560:Vmn2r117	UTSW	17	23,678,851 (GRCm39)	missense	probably damaging	1.00
R4658:Vmn2r117	UTSW	17	23,697,390 (GRCm39)	missense	probably benign	0.01
R4881:Vmn2r117	UTSW	17	23,696,859 (GRCm39)	missense	probably damaging	1.00
R4908:Vmn2r117	UTSW	17	23,678,812 (GRCm39)	missense	probably damaging	1.00
R4910:Vmn2r117	UTSW	17	23,698,487 (GRCm39)	frame shift	probably null
R5078:Vmn2r117	UTSW	17	23,679,122 (GRCm39)	missense	probably damaging	1.00
R5327:Vmn2r117	UTSW	17	23,696,848 (GRCm39)	nonsense	probably null
R5774:Vmn2r117	UTSW	17	23,696,176 (GRCm39)	missense	probably damaging	0.98
R6014:Vmn2r117	UTSW	17	23,698,535 (GRCm39)	missense	probably damaging	0.97
R6390:Vmn2r117	UTSW	17	23,679,088 (GRCm39)	missense	possibly damaging	0.95
R6520:Vmn2r117	UTSW	17	23,679,193 (GRCm39)	missense	probably damaging	0.99
R6674:Vmn2r117	UTSW	17	23,679,023 (GRCm39)	nonsense	probably null
R6736:Vmn2r117	UTSW	17	23,697,282 (GRCm39)	missense	probably damaging	0.99
R6909:Vmn2r117	UTSW	17	23,698,479 (GRCm39)	missense	possibly damaging	0.67
R6913:Vmn2r117	UTSW	17	23,698,537 (GRCm39)	missense	probably damaging	0.99
R7220:Vmn2r117	UTSW	17	23,696,177 (GRCm39)	missense	probably damaging	1.00
R7260:Vmn2r117	UTSW	17	23,694,359 (GRCm39)	missense	probably benign	0.06
R7440:Vmn2r117	UTSW	17	23,694,539 (GRCm39)	missense	probably benign	0.26
R7443:Vmn2r117	UTSW	17	23,679,319 (GRCm39)	missense	probably damaging	1.00
R7443:Vmn2r117	UTSW	17	23,679,107 (GRCm39)	missense	probably benign	0.25
R7449:Vmn2r117	UTSW	17	23,678,869 (GRCm39)	missense	probably damaging	1.00
R7644:Vmn2r117	UTSW	17	23,696,265 (GRCm39)	missense	probably damaging	0.98
R7914:Vmn2r117	UTSW	17	23,679,100 (GRCm39)	missense	possibly damaging	0.95
R8001:Vmn2r117	UTSW	17	23,698,381 (GRCm39)	missense	possibly damaging	0.89
R8029:Vmn2r117	UTSW	17	23,696,744 (GRCm39)	missense	probably benign	0.00
R8340:Vmn2r117	UTSW	17	23,679,511 (GRCm39)	missense	probably benign	0.01
R8519:Vmn2r117	UTSW	17	23,698,442 (GRCm39)	missense	probably benign
R8723:Vmn2r117	UTSW	17	23,696,343 (GRCm39)	missense	probably damaging	1.00
R8914:Vmn2r117	UTSW	17	23,679,143 (GRCm39)	missense	probably benign	0.02
R9010:Vmn2r117	UTSW	17	23,679,445 (GRCm39)	missense	probably benign	0.10
R9129:Vmn2r117	UTSW	17	23,678,918 (GRCm39)	nonsense	probably null
R9244:Vmn2r117	UTSW	17	23,696,589 (GRCm39)	missense	probably damaging	0.98
R9464:Vmn2r117	UTSW	17	23,696,578 (GRCm39)	missense	probably benign	0.23
R9620:Vmn2r117	UTSW	17	23,697,450 (GRCm39)	missense	probably damaging	0.97
V5622:Vmn2r117	UTSW	17	23,698,479 (GRCm39)	missense	possibly damaging	0.67
V5622:Vmn2r117	UTSW	17	23,696,814 (GRCm39)	missense	probably damaging	1.00
Z1176:Vmn2r117	UTSW	17	23,678,740 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGCATTGGAAGATGATTTCACC -3'
(R):5'- AGTCTGGCTGAGAGCTTCTC -3'

Sequencing Primer
(F):5'- TGGAAGATGATTTCACCCTGATC -3'
(R):5'- TGCACATTCTGAGCATGGAC -3'

Posted On

2014-12-29