Mutagenetix > Incidental Mutation

Incidental Mutation 'R6667:Vmn2r116'

527044

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r116

Ensembl Gene

ENSMUSG00000090966

Gene Name

vomeronasal 2, receptor 116

Synonyms

V2Rp5, EG619697

MMRRC Submission

044787-MU

Accession Numbers

Essential gene?

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

Stock #

R6667 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23603777-23620838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23620066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 600 (T600I)

Ref Sequence

ENSEMBL: ENSMUSP00000128106 (fasta)

Gene Model

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

AlphaFold

E9Q6I0

Predicted Effect

probably damaging
Transcript: ENSMUST00000164856
AA Change: T600I

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

SMART Domains

Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: T600I

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	T	4: 124,504,435 (GRCm39)	A39E	probably damaging	Het
Agtr1b	T	A	3: 20,369,913 (GRCm39)	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,440,811 (GRCm39)	E661G	probably damaging	Het
Ankrd26	C	T	6: 118,484,749 (GRCm39)	S1496N	probably benign	Het
Asah2	T	C	19: 31,972,758 (GRCm39)	N659S	probably benign	Het
Atp12a	T	C	14: 56,621,645 (GRCm39)	V760A	possibly damaging	Het
Casp2	T	C	6: 42,256,770 (GRCm39)	C343R	probably damaging	Het
Cblb	T	A	16: 51,973,007 (GRCm39)	M446K	possibly damaging	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Ddit4l	A	G	3: 137,331,882 (GRCm39)	K83E	probably benign	Het
Eif1ad10	A	T	12: 88,216,475 (GRCm39)	D132E	unknown	Het
Epc2	A	G	2: 49,412,681 (GRCm39)	T220A	probably damaging	Het
Epha5	T	C	5: 84,219,050 (GRCm39)	D741G	probably damaging	Het
Flg2	A	T	3: 93,109,068 (GRCm39)	R365S	possibly damaging	Het
Ggn	A	T	7: 28,872,093 (GRCm39)	H491L	possibly damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,370,152 (GRCm39)	V100A	probably benign	Het
Invs	A	T	4: 48,402,870 (GRCm39)	Y501F	possibly damaging	Het
Iqcm	G	T	8: 76,479,980 (GRCm39)	G313W	probably damaging	Het
Jph2	A	G	2: 163,218,206 (GRCm39)	S157P	probably damaging	Het
Mast4	T	C	13: 102,874,004 (GRCm39)	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,567,760 (GRCm39)	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,558,735 (GRCm39)	L837P	probably damaging	Het
Neb	G	A	2: 52,037,201 (GRCm39)	T6836I	probably damaging	Het
Nol12	T	A	15: 78,824,280 (GRCm39)	D133E	probably benign	Het
Or5w13	A	G	2: 87,523,914 (GRCm39)	V104A	probably benign	Het
Oxtr	C	A	6: 112,454,060 (GRCm39)		probably benign	Het
Pcmt1	A	G	10: 7,538,913 (GRCm39)	L38P	probably damaging	Het
Pik3r2	T	C	8: 71,221,817 (GRCm39)	Y617C	probably damaging	Het
Potefam3b	T	C	8: 21,161,955 (GRCm39)	S267P	probably benign	Het
Prl7a2	T	C	13: 27,845,024 (GRCm39)	N121D	probably benign	Het
Pvr	G	T	7: 19,639,727 (GRCm39)	Q380K	probably benign	Het
Rtn2	A	G	7: 19,021,184 (GRCm39)	E188G	probably benign	Het
Setd4	C	A	16: 93,386,918 (GRCm39)	R260L	probably benign	Het
Six5	A	G	7: 18,830,494 (GRCm39)	N374D	probably benign	Het
Slc9b1	T	C	3: 135,077,726 (GRCm39)	I140T	probably damaging	Het
Supt16	A	G	14: 52,409,520 (GRCm39)	F797L	probably damaging	Het
Tbata	T	C	10: 61,021,142 (GRCm39)	L262P	probably damaging	Het
Tti1	A	T	2: 157,850,347 (GRCm39)	C297*	probably null	Het
Ush1c	C	A	7: 45,875,048 (GRCm39)	G139C	probably damaging	Het
Vmn1r1	C	T	1: 181,985,342 (GRCm39)	V108I	probably benign	Het
Zfp764l1	A	G	7: 126,992,595 (GRCm39)	M5T	probably benign	Het
Zfp873	A	G	10: 81,896,423 (GRCm39)	T422A	probably benign	Het
Zfp943	G	A	17: 22,211,889 (GRCm39)	C325Y	probably damaging	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
R0592:Vmn2r116	UTSW	17	23,605,889 (GRCm39)	missense	probably damaging	0.99
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
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

PCR Primer
(F):5'- GAGGCTGCACTAACAATATCTTC -3'
(R):5'- TGTTTTAGCCAAGACAGTGGAGAG -3'

Sequencing Primer
(F):5'- GGCTGCACTAACAATATCTTCATTTC -3'
(R):5'- ACAGTAAATACAACTCCAAATGTGAG -3'

Posted On

2018-07-23