Mutagenetix > Incidental Mutations

Incidental Mutation 'R4418:Vmn2r88'

326967

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r88

Ensembl Gene

ENSMUSG00000000606

Gene Name

vomeronasal 2, receptor 88

Synonyms

V2r3, V2r13

MMRRC Submission

041139-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R4418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51410819-51419527 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 51418081 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 583 (L583F)

Ref Sequence

ENSEMBL: ENSMUSP00000154310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022438] [ENSMUST00000159674] [ENSMUST00000162998] [ENSMUST00000228139]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022438
AA Change: L591F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: L591F

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ANF_receptor	76	457	8.3e-27	PFAM
Pfam:NCD3G	516	570	1.2e-18	PFAM
Pfam:7tm_3	603	838	1.9e-55	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159674
AA Change: L582F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: L582F

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	30	408	3.2e-30	PFAM
Pfam:NCD3G	463	516	1.2e-19	PFAM
Pfam:7tm_3	546	785	3.7e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161565

Predicted Effect

probably benign
Transcript: ENSMUST00000162998

SMART Domains

Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399

Domain	Start	End	E-Value	Type
Pfam:Takusan	35	115	2.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163019

SMART Domains

Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	52	399	3.7e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000228139
AA Change: L583F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

95% (72/76)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,261,287		probably null	Het
4930523C07Rik	A	G	1: 160,044,802		noncoding transcript	Het
5430419D17Rik	A	T	7: 131,247,465	D899V	possibly damaging	Het
Acot12	A	G	13: 91,784,405	T507A	possibly damaging	Het
Agap2	T	G	10: 127,091,650	C1113W	probably damaging	Het
Ap3s1-ps2	A	T	8: 94,405,293		noncoding transcript	Het
B3gnt3	T	C	8: 71,693,769	R39G	probably benign	Het
Bahd1	G	A	2: 118,922,523	R757H	probably damaging	Het
Chad	C	T	11: 94,567,837	H271Y	possibly damaging	Het
Chil4	G	A	3: 106,203,727	P284S	possibly damaging	Het
Col6a1	T	A	10: 76,718,405	K323*	probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dclre1c	T	C	2: 3,452,935	F285S	possibly damaging	Het
Dctn2	T	G	10: 127,278,365	M360R	probably benign	Het
Dgka	A	T	10: 128,728,094	L462Q	probably damaging	Het
Drg2	A	C	11: 60,468,146	K364T	probably damaging	Het
Dync1li1	T	A	9: 114,706,170	S167R	probably damaging	Het
Fam189a2	T	C	19: 23,979,435	T365A	probably benign	Het
Fer	A	T	17: 64,029,291	D554V	possibly damaging	Het
Fignl2	A	G	15: 101,053,949	S151P	possibly damaging	Het
Gbgt1	A	G	2: 28,498,408	Y35C	probably damaging	Het
Gm6526	T	A	14: 43,748,845	I79K	probably damaging	Het
Gm884	T	C	11: 103,618,314		probably benign	Het
Gpr6	T	G	10: 41,070,608	N326T	probably damaging	Het
Hcn4	C	T	9: 58,843,895	T268M	probably benign	Het
Hist1h2bc	C	T	13: 23,684,503	T91M	probably damaging	Het
Hnf4g	A	G	3: 3,648,094	M243V	possibly damaging	Het
Homer1	A	G	13: 93,402,069	E314G	probably damaging	Het
Hs6st1	T	C	1: 36,104,027	Y348H	probably damaging	Het
Ifitm6	A	T	7: 141,016,071	I103N	probably damaging	Het
Ipo5	T	G	14: 120,943,893	C944G	possibly damaging	Het
Kcnb1	C	A	2: 167,105,675	E418*	probably null	Het
Kcnk2	G	A	1: 189,256,727	R207C	probably damaging	Het
Kctd8	T	C	5: 69,341,162	E47G	probably damaging	Het
Klhdc2	C	T	12: 69,307,597		probably benign	Het
Mgat1	A	G	11: 49,261,245	Y185C	probably damaging	Het
Mmp25	T	A	17: 23,644,070	R122S	probably damaging	Het
Mrpl39	C	A	16: 84,725,124		probably null	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nek1	T	C	8: 61,106,864	F1007S	probably damaging	Het
Neto1	T	C	18: 86,404,856	M146T	probably benign	Het
Opn1sw	G	A	6: 29,379,424	R45*	probably null	Het
Osbpl5	A	T	7: 143,709,815	C98*	probably null	Het
Pcdhb7	C	T	18: 37,343,482	A557V	probably benign	Het
Pecam1	A	G	11: 106,695,922	F155L	possibly damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Pmfbp1	C	A	8: 109,530,633	Q609K	probably benign	Het
Pnpo	A	T	11: 96,940,969		probably null	Het
Ppp2cb	G	A	8: 33,617,049	R254Q	probably benign	Het
Qser1	A	T	2: 104,789,421	S349T	probably damaging	Het
Rnf167	T	A	11: 70,647,917	W17R	probably damaging	Het
Rpl21-ps4	A	G	14: 11,227,879		noncoding transcript	Het
Rxfp2	A	T	5: 150,048,800	H158L	probably benign	Het
Ryr3	C	T	2: 112,831,224	C1807Y	probably damaging	Het
Scaper	T	A	9: 55,838,180	E601D	probably damaging	Het
Secisbp2l	A	T	2: 125,752,915	C542S	probably benign	Het
Slc6a19	A	G	13: 73,684,395	V393A	possibly damaging	Het
Stil	A	G	4: 115,009,377	N176S	probably benign	Het
Tap1	T	A	17: 34,188,379		probably null	Het
Tcl1b3	A	T	12: 105,193,585	Q105L	probably damaging	Het
Tmem206	T	A	1: 191,348,432	V283E	probably damaging	Het
Trappc10	G	T	10: 78,217,188	A251D	probably damaging	Het
Trim43a	G	T	9: 88,582,153	C39F	probably damaging	Het
Ttn	A	T	2: 76,889,481		probably benign	Het
Vmn2r110	A	T	17: 20,583,689	L208*	probably null	Het
Wasf1	C	T	10: 40,936,582	H456Y	unknown	Het
Zfp120	A	G	2: 150,118,185	I73T	possibly damaging	Het
Zfp990	T	C	4: 145,536,728	C99R	possibly damaging	Het

Other mutations in Vmn2r88

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Vmn2r88	APN	14	51413125	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51413060	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51413256	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51416802	missense	possibly damaging	0.59
IGL02308:Vmn2r88	APN	14	51417980	missense	possibly damaging	0.96
IGL02481:Vmn2r88	APN	14	51414154	missense	probably benign
IGL02483:Vmn2r88	APN	14	51414154	missense	probably benign
IGL03241:Vmn2r88	APN	14	51418373	missense	probably benign	0.03
R0052:Vmn2r88	UTSW	14	51418700	missense	possibly damaging	0.88
R0070:Vmn2r88	UTSW	14	51414140	missense	probably benign	0.08
R0799:Vmn2r88	UTSW	14	51414502	missense	possibly damaging	0.61
R0906:Vmn2r88	UTSW	14	51418209	missense	probably damaging	1.00
R1322:Vmn2r88	UTSW	14	51414108	missense	probably damaging	1.00
R1352:Vmn2r88	UTSW	14	51418550	missense	probably damaging	1.00
R1639:Vmn2r88	UTSW	14	51416787	missense	probably damaging	0.98
R1780:Vmn2r88	UTSW	14	51418572	missense	probably damaging	1.00
R1834:Vmn2r88	UTSW	14	51413030	splice site	probably benign
R1911:Vmn2r88	UTSW	14	51418214	missense	probably damaging	1.00
R2113:Vmn2r88	UTSW	14	51418194	missense	probably damaging	1.00
R2120:Vmn2r88	UTSW	14	51413208	missense	probably benign	0.00
R2126:Vmn2r88	UTSW	14	51413807	missense	probably benign	0.01
R2348:Vmn2r88	UTSW	14	51414004	missense	probably benign	0.00
R2881:Vmn2r88	UTSW	14	51418689	missense	probably damaging	0.97
R2884:Vmn2r88	UTSW	14	51413934	missense	probably damaging	1.00
R3081:Vmn2r88	UTSW	14	51418632	missense	probably damaging	0.99
R3933:Vmn2r88	UTSW	14	51413978	missense	probably benign	0.44
R3967:Vmn2r88	UTSW	14	51413190	missense	probably benign	0.06
R4091:Vmn2r88	UTSW	14	51415426	missense	probably damaging	1.00
R4378:Vmn2r88	UTSW	14	51413289	nonsense	probably null
R4397:Vmn2r88	UTSW	14	51417978	missense	probably damaging	1.00
R4609:Vmn2r88	UTSW	14	51418074	missense	probably damaging	0.98
R4647:Vmn2r88	UTSW	14	51418793	missense	probably benign	0.02
R4672:Vmn2r88	UTSW	14	51418155	missense	probably damaging	1.00
R4684:Vmn2r88	UTSW	14	51413334	missense	possibly damaging	0.95
R4686:Vmn2r88	UTSW	14	51413339	missense	probably benign	0.03
R4720:Vmn2r88	UTSW	14	51413245	missense	probably benign	0.01
R5046:Vmn2r88	UTSW	14	51413181	missense	probably benign	0.03
R5063:Vmn2r88	UTSW	14	51411146	missense	probably damaging	0.96
R5619:Vmn2r88	UTSW	14	51413910	missense	probably damaging	0.99
R5652:Vmn2r88	UTSW	14	51418572	missense	probably damaging	0.98
R6020:Vmn2r88	UTSW	14	51418149	nonsense	probably null
R6103:Vmn2r88	UTSW	14	51415369	missense	probably benign	0.17
R6674:Vmn2r88	UTSW	14	51414338	missense	probably benign	0.01
R6799:Vmn2r88	UTSW	14	51413969	missense	probably benign	0.05
R7089:Vmn2r88	UTSW	14	51418643	missense
R7104:Vmn2r88	UTSW	14	51413796	missense
R7265:Vmn2r88	UTSW	14	51418319	missense
R7316:Vmn2r88	UTSW	14	51414255	missense
R7552:Vmn2r88	UTSW	14	51410858	splice site	probably null
R7611:Vmn2r88	UTSW	14	51413997	missense
R7667:Vmn2r88	UTSW	14	51417989	missense
R7682:Vmn2r88	UTSW	14	51418449	missense
R7755:Vmn2r88	UTSW	14	51413046	missense	probably benign	0.00
R7811:Vmn2r88	UTSW	14	51418703	missense
R7882:Vmn2r88	UTSW	14	51413046	missense	probably benign	0.00
R7957:Vmn2r88	UTSW	14	51413132	missense
R7998:Vmn2r88	UTSW	14	51414108	missense
R8142:Vmn2r88	UTSW	14	51414107	missense
R8186:Vmn2r88	UTSW	14	51418700	missense
R8348:Vmn2r88	UTSW	14	51418796	missense	probably damaging	0.97
R8448:Vmn2r88	UTSW	14	51418796	missense	probably damaging	0.97
V5622:Vmn2r88	UTSW	14	51413127	missense	probably benign
X0024:Vmn2r88	UTSW	14	51413832	missense	possibly damaging	0.79
X0025:Vmn2r88	UTSW	14	51416802	missense	possibly damaging	0.59
Z1177:Vmn2r88	UTSW	14	51418046	frame shift	probably null
Z1177:Vmn2r88	UTSW	14	51418187	missense

Predicted Primers

PCR Primer
(F):5'- AGGAATGGAATAGATGCTCAACACC -3'
(R):5'- GAGACCTGGTTTGGATGTCC -3'

Sequencing Primer
(F):5'- TGGAACAGTGTGTGAAGTG -3'
(R):5'- TGGATGTCCAATGAAGAGCAG -3'

Posted On

2015-07-07