Mutagenetix > Incidental Mutations

Incidental Mutation 'R2884:Vmn2r88'

260990

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r88

Ensembl Gene

ENSMUSG00000000606

Gene Name

vomeronasal 2, receptor 88

Synonyms

V2r3, V2r13

MMRRC Submission

040472-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R2884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51410819-51419527 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51413934 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 235 (C235Y)

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: C243Y

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

SMART Domains

Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: C243Y

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

unknown
Transcript: ENSMUST00000159674
AA Change: C235Y

SMART Domains

Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: C235Y

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

unknown
Transcript: ENSMUST00000163019
AA Change: C210Y

SMART Domains

Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
AA Change: C210Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228139
AA Change: C235Y

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	T	8: 120,145,511	E59D	possibly damaging	Het
Arhgap27	T	C	11: 103,360,843		probably null	Het
BC061237	A	G	14: 44,501,170	R9G	possibly damaging	Het
BC067074	A	T	13: 113,320,682	Q1087H	probably damaging	Het
BC067074	G	T	13: 113,369,191	A2285S	probably benign	Het
Brsk1	A	G	7: 4,691,123		probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Dnajb5	A	T	4: 42,957,355	D284V	probably damaging	Het
Dnmt3a	A	G	12: 3,896,132	D329G	probably damaging	Het
Ecd	C	T	14: 20,320,773	G626D	probably damaging	Het
Exoc3l4	A	G	12: 111,428,522	D551G	possibly damaging	Het
Fam227b	A	T	2: 126,100,926	I317N	probably benign	Het
Fam3c	G	A	6: 22,329,582	R49C	probably damaging	Het
Fcrl5	A	G	3: 87,457,391	Y566C	probably damaging	Het
Fras1	A	G	5: 96,700,268	N1779S	probably benign	Het
Gm19965	T	A	1: 116,821,583	N331K	probably benign	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
H2-DMa	A	G	17: 34,137,147	N41S	probably damaging	Het
Habp4	A	T	13: 64,182,266	R328S	probably benign	Het
Hexb	C	T	13: 97,183,700	G272D	probably damaging	Het
Hist1h2ae	A	G	13: 23,570,873	I79T	probably damaging	Het
Lilrb4a	A	T	10: 51,491,613	N84Y	probably benign	Het
Mtnr1a	A	G	8: 45,087,268	T89A	probably benign	Het
Myh13	T	A	11: 67,337,643	N336K	probably benign	Het
Naca	T	C	10: 128,041,678		probably benign	Het
Naif1	C	T	2: 32,454,875	P197L	probably benign	Het
Nprl3	A	G	11: 32,248,163	L179P	probably damaging	Het
Nup93	A	G	8: 94,303,638	Y375C	probably damaging	Het
Olfr547	A	G	7: 102,535,232	I162V	probably benign	Het
Pcdha12	G	A	18: 37,020,704	D159N	probably damaging	Het
Plekhs1	G	A	19: 56,470,826	G39R	probably benign	Het
Ppp4r3a	T	C	12: 101,068,677	E53G	probably damaging	Het
Prss48	A	T	3: 85,997,255	M212K	probably benign	Het
Pth	A	T	7: 113,386,028	L46Q	probably damaging	Het
Rin2	A	T	2: 145,860,991	T536S	probably benign	Het
Setx	T	G	2: 29,148,625	C1707W	probably damaging	Het
Stau2	A	T	1: 16,231,066	F519Y	possibly damaging	Het
Syne2	T	G	12: 75,963,759	V2481G	probably benign	Het
Tpte	C	T	8: 22,335,423	Q331*	probably null	Het
Ttn	G	T	2: 76,900,252		probably benign	Het
Utrn	A	T	10: 12,739,361		probably null	Het
Vmn2r82	A	G	10: 79,396,248	I694V	probably benign	Het
Xrn2	T	A	2: 147,047,656	V653E	probably damaging	Het
Znrf3	A	T	11: 5,289,693	D58E	probably 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
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
R4418:Vmn2r88	UTSW	14	51418081	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
R8483:Vmn2r88	UTSW	14	51413073	missense	possibly damaging	0.48
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'- ACCTACATGACCATGACCGG -3'
(R):5'- TTTGTGATGACATCCCATTGTG -3'

Sequencing Primer
(F):5'- GCTGCACCATGTCCATCAAGTAG -3'
(R):5'- GTGATCCAGATTCTCCGAGCAC -3'

Posted On

2015-01-23