Mutagenetix > Incidental Mutation

Incidental Mutation 'R0592:Vmn2r116'

67037

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r116

Ensembl Gene

ENSMUSG00000090966

Gene Name

vomeronasal 2, receptor 116

Synonyms

V2Rp5, EG619697

MMRRC Submission

038782-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0592 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

23603777-23620838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23605889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 267 (T267I)

Ref Sequence

ENSEMBL: ENSMUSP00000128106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164856]

AlphaFold

E9Q6I0

Predicted Effect

probably damaging
Transcript: ENSMUST00000164856
AA Change: T267I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: T267I

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	469	4.4e-30	PFAM
Pfam:NCD3G	511	564	1.2e-22	PFAM
low complexity region	589	594	N/A	INTRINSIC
Pfam:7tm_3	595	832	8.7e-57	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

100% (35/35)

MGI Phenotype

PHENOTYPE: Female mice homozygous for a knock-out allele stimulated with male pheromone (Gm6084) fail to exhibit an increase in lordosis behavior and successful intromission. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2a	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	19: 6,295,037 (GRCm39)		probably benign	Het
Bbs7	A	T	3: 36,664,446 (GRCm39)	V53D	probably benign	Het
Bglap	T	A	3: 88,290,962 (GRCm39)	I90F	probably benign	Het
C2cd4b	G	A	9: 67,667,973 (GRCm39)	R323H	probably damaging	Het
Cdh5	T	A	8: 104,857,534 (GRCm39)		probably null	Het
Cdh8	T	A	8: 100,006,110 (GRCm39)	D159V	probably damaging	Het
Dnah7a	A	G	1: 53,495,771 (GRCm39)	Y3229H	possibly damaging	Het
Dzip1	T	C	14: 119,139,551 (GRCm39)	E381G	probably damaging	Het
Elmod1	A	G	9: 53,833,390 (GRCm39)		probably benign	Het
Exosc10	T	C	4: 148,665,570 (GRCm39)	S811P	probably benign	Het
Fhl3	A	G	4: 124,599,470 (GRCm39)	Y15C	probably benign	Het
Gstz1	G	A	12: 87,210,495 (GRCm39)	S126N	probably benign	Het
Hey2	C	A	10: 30,709,953 (GRCm39)	A267S	probably benign	Het
Iqce	A	T	5: 140,671,862 (GRCm39)		probably null	Het
Katnal2	A	T	18: 77,090,256 (GRCm39)		probably null	Het
Kdm2b	G	A	5: 123,099,197 (GRCm39)		probably benign	Het
Mov10l1	A	G	15: 88,882,969 (GRCm39)		probably null	Het
Numa1	A	G	7: 101,663,104 (GRCm39)	T724A	probably benign	Het
Oas3	A	G	5: 120,909,214 (GRCm39)	F244S	probably damaging	Het
Or2d2	G	A	7: 106,728,550 (GRCm39)	L17F	probably benign	Het
Or5b117	T	C	19: 13,431,069 (GRCm39)	I271V	probably benign	Het
Rab37	T	G	11: 115,051,349 (GRCm39)		probably benign	Het
Riox2	T	C	16: 59,309,942 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,508,826 (GRCm39)	S3358P	probably damaging	Het
Sash1	T	A	10: 8,605,546 (GRCm39)	H948L	probably benign	Het
Serpinb6e	T	A	13: 34,025,057 (GRCm39)	N78I	probably damaging	Het
Slc25a47	G	A	12: 108,820,184 (GRCm39)	V63M	probably damaging	Het
Slc9b1	A	T	3: 135,099,835 (GRCm39)		probably benign	Het
Strip2	T	A	6: 29,931,209 (GRCm39)	S387T	probably benign	Het
Tcaf3	T	C	6: 42,573,777 (GRCm39)	N145S	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Trmu	T	C	15: 85,781,027 (GRCm39)		probably benign	Het
Vezf1	A	T	11: 88,068,435 (GRCm38)		probably benign	Het
Whrn	C	A	4: 63,333,804 (GRCm39)	A450S	probably damaging	Het
Ypel1	A	G	16: 16,925,083 (GRCm39)	S30P	probably benign	Het

Other mutations in Vmn2r116

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Vmn2r116	APN	17	23,604,969 (GRCm39)	missense	possibly damaging	0.94
IGL00985:Vmn2r116	APN	17	23,620,489 (GRCm39)	missense	probably damaging	1.00
IGL00990:Vmn2r116	APN	17	23,606,210 (GRCm39)	missense	probably benign	0.12
IGL00990:Vmn2r116	APN	17	23,616,701 (GRCm39)	missense	probably damaging	1.00
IGL01383:Vmn2r116	APN	17	23,620,575 (GRCm39)	missense	probably damaging	1.00
IGL01459:Vmn2r116	APN	17	23,603,903 (GRCm39)	missense	probably damaging	1.00
IGL01725:Vmn2r116	APN	17	23,605,619 (GRCm39)	missense	probably damaging	1.00
IGL02125:Vmn2r116	APN	17	23,616,601 (GRCm39)	splice site	probably benign
IGL02170:Vmn2r116	APN	17	23,603,907 (GRCm39)	missense	probably benign
IGL02209:Vmn2r116	APN	17	23,607,761 (GRCm39)	missense	probably damaging	1.00
IGL02226:Vmn2r116	APN	17	23,603,808 (GRCm39)	missense	probably null
IGL02272:Vmn2r116	APN	17	23,604,978 (GRCm39)	missense	probably damaging	1.00
IGL02272:Vmn2r116	APN	17	23,604,973 (GRCm39)	missense	probably benign	0.06
IGL02403:Vmn2r116	APN	17	23,606,338 (GRCm39)	missense	probably damaging	1.00
IGL02686:Vmn2r116	APN	17	23,607,767 (GRCm39)	missense	probably damaging	0.99
IGL02750:Vmn2r116	APN	17	23,616,608 (GRCm39)	splice site	probably benign
IGL02977:Vmn2r116	APN	17	23,607,748 (GRCm39)	missense	possibly damaging	0.90
PIT4449001:Vmn2r116	UTSW	17	23,607,921 (GRCm39)	missense	probably benign	0.41
R0015:Vmn2r116	UTSW	17	23,620,823 (GRCm39)	missense	probably benign	0.03
R0219:Vmn2r116	UTSW	17	23,605,072 (GRCm39)	nonsense	probably null
R0281:Vmn2r116	UTSW	17	23,620,387 (GRCm39)	missense	possibly damaging	0.90
R0415:Vmn2r116	UTSW	17	23,606,253 (GRCm39)	missense	possibly damaging	0.55
R0610:Vmn2r116	UTSW	17	23,606,286 (GRCm39)	missense	probably damaging	1.00
R0635:Vmn2r116	UTSW	17	23,605,861 (GRCm39)	missense	possibly damaging	0.95
R0843:Vmn2r116	UTSW	17	23,619,934 (GRCm39)	missense	probably benign	0.01
R1329:Vmn2r116	UTSW	17	23,606,162 (GRCm39)	missense	possibly damaging	0.89
R1396:Vmn2r116	UTSW	17	23,605,115 (GRCm39)	missense	probably benign
R1401:Vmn2r116	UTSW	17	23,605,570 (GRCm39)	splice site	probably benign
R1574:Vmn2r116	UTSW	17	23,606,063 (GRCm39)	missense	probably damaging	0.99
R1574:Vmn2r116	UTSW	17	23,606,063 (GRCm39)	missense	probably damaging	0.99
R1766:Vmn2r116	UTSW	17	23,620,740 (GRCm39)	missense	probably damaging	0.98
R2157:Vmn2r116	UTSW	17	23,620,443 (GRCm39)	missense	probably damaging	1.00
R3622:Vmn2r116	UTSW	17	23,605,025 (GRCm39)	missense	probably benign	0.11
R3690:Vmn2r116	UTSW	17	23,603,798 (GRCm39)	missense	unknown
R4298:Vmn2r116	UTSW	17	23,620,801 (GRCm39)	missense	possibly damaging	0.69
R4373:Vmn2r116	UTSW	17	23,620,395 (GRCm39)	missense	probably benign	0.01
R4860:Vmn2r116	UTSW	17	23,620,777 (GRCm39)	missense	probably benign
R4941:Vmn2r116	UTSW	17	23,620,116 (GRCm39)	missense	probably damaging	1.00
R5119:Vmn2r116	UTSW	17	23,606,138 (GRCm39)	missense	probably benign	0.01
R5503:Vmn2r116	UTSW	17	23,605,778 (GRCm39)	missense	probably benign	0.07
R5510:Vmn2r116	UTSW	17	23,605,095 (GRCm39)	missense	probably damaging	1.00
R5538:Vmn2r116	UTSW	17	23,620,041 (GRCm39)	missense	probably benign	0.00
R5689:Vmn2r116	UTSW	17	23,616,693 (GRCm39)	missense	probably benign	0.30
R5765:Vmn2r116	UTSW	17	23,620,378 (GRCm39)	missense	probably damaging	0.99
R5794:Vmn2r116	UTSW	17	23,604,942 (GRCm39)	missense	probably damaging	0.99
R5807:Vmn2r116	UTSW	17	23,606,281 (GRCm39)	missense	probably damaging	1.00
R5837:Vmn2r116	UTSW	17	23,606,054 (GRCm39)	missense	probably damaging	1.00
R6262:Vmn2r116	UTSW	17	23,606,351 (GRCm39)	missense	probably benign	0.03
R6298:Vmn2r116	UTSW	17	23,605,736 (GRCm39)	missense	probably damaging	1.00
R6651:Vmn2r116	UTSW	17	23,607,805 (GRCm39)	nonsense	probably null
R6667:Vmn2r116	UTSW	17	23,620,066 (GRCm39)	missense	probably damaging	1.00
R7393:Vmn2r116	UTSW	17	23,605,099 (GRCm39)	missense	probably benign	0.14
R7571:Vmn2r116	UTSW	17	23,603,830 (GRCm39)	splice site	probably null
R7940:Vmn2r116	UTSW	17	23,605,946 (GRCm39)	missense	probably damaging	0.99
R8510:Vmn2r116	UTSW	17	23,604,905 (GRCm39)	nonsense	probably null
R8950:Vmn2r116	UTSW	17	23,620,467 (GRCm39)	missense	probably damaging	1.00
R8956:Vmn2r116	UTSW	17	23,605,736 (GRCm39)	missense	probably damaging	1.00
R8977:Vmn2r116	UTSW	17	23,605,916 (GRCm39)	missense	possibly damaging	0.56
R9030:Vmn2r116	UTSW	17	23,603,864 (GRCm39)	missense	possibly damaging	0.82
R9077:Vmn2r116	UTSW	17	23,604,956 (GRCm39)	missense	probably benign	0.14
R9223:Vmn2r116	UTSW	17	23,620,141 (GRCm39)	missense	probably damaging	1.00
R9401:Vmn2r116	UTSW	17	23,620,566 (GRCm39)	missense	probably damaging	1.00
R9449:Vmn2r116	UTSW	17	23,605,919 (GRCm39)	missense	probably benign	0.01
R9746:Vmn2r116	UTSW	17	23,620,797 (GRCm39)	missense	probably benign	0.08
R9755:Vmn2r116	UTSW	17	23,620,065 (GRCm39)	missense	probably damaging	1.00
R9759:Vmn2r116	UTSW	17	23,620,360 (GRCm39)	missense	possibly damaging	0.90
R9800:Vmn2r116	UTSW	17	23,620,399 (GRCm39)	missense	probably damaging	0.97
S24628:Vmn2r116	UTSW	17	23,606,253 (GRCm39)	missense	possibly damaging	0.55
Z1176:Vmn2r116	UTSW	17	23,620,402 (GRCm39)	missense	probably damaging	1.00
Z1177:Vmn2r116	UTSW	17	23,607,866 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2013-08-20