Mutagenetix > Incidental Mutation

Incidental Mutation 'R4941:Vmn2r116'

383141

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r116

Ensembl Gene

ENSMUSG00000090966

Gene Name

vomeronasal 2, receptor 116

Synonyms

V2Rp5, EG619697

MMRRC Submission

042539-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23384803-23401864 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23401142 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 617 (K617E)

Ref Sequence

ENSEMBL: ENSMUSP00000128106 (fasta)

Gene Model

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

AlphaFold

E9Q6I0

Predicted Effect

probably damaging
Transcript: ENSMUST00000164856
AA Change: K617E

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

SMART Domains

Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: K617E

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: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.0%

Validation Efficiency

97% (112/116)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,919,901	S600N	probably benign	Het
4932438A13Rik	A	C	3: 36,917,702	H528P	probably damaging	Het
A4galt	T	A	15: 83,228,328	I85F	probably damaging	Het
Abcc6	T	A	7: 46,012,523	I435F	probably benign	Het
Adam3	T	C	8: 24,677,316		probably benign	Het
Adrb3	T	C	8: 27,227,422	Y333C	probably damaging	Het
Ago4	A	T	4: 126,526,054	D43E	probably benign	Het
Agt	T	A	8: 124,556,988	Q464L	probably benign	Het
Amdhd1	A	T	10: 93,531,601	D230E	probably damaging	Het
Aplf	A	T	6: 87,646,349	N249K	probably benign	Het
Aplf	A	G	6: 87,668,423	I33T	probably damaging	Het
Arap2	A	G	5: 62,749,478	M66T	probably benign	Het
Atf4	T	C	15: 80,256,233		probably benign	Het
AU019823	G	T	9: 50,607,509	Q268K	probably benign	Het
Bahcc1	A	C	11: 120,286,665	H2068P	probably benign	Het
Bcor	C	T	X: 12,040,486	R1551Q	probably damaging	Het
Catsper1	C	A	19: 5,341,438	A616D	possibly damaging	Het
Ccdc94	A	G	17: 55,964,149	D97G	possibly damaging	Het
Cdkn3	A	G	14: 46,769,863	D159G	possibly damaging	Het
Cep162	T	C	9: 87,225,969		probably benign	Het
Clca1	T	A	3: 145,015,653	I386L	probably damaging	Het
Cldn10	G	A	14: 118,788,313	G53S	possibly damaging	Het
Cmtm3	T	C	8: 104,343,828	L73P	probably damaging	Het
Cnksr3	A	C	10: 7,152,925	L149R	probably benign	Het
Cope	T	C	8: 70,302,934		probably null	Het
Cpa6	T	A	1: 10,409,337	M224L	probably benign	Het
Cyp2d41-ps	T	C	15: 82,781,953		noncoding transcript	Het
Ddx55	T	A	5: 124,568,716	L592*	probably null	Het
Deup1	T	C	9: 15,588,027	M333V	probably benign	Het
Eif4a1	T	C	11: 69,667,814		probably benign	Het
Eif4g3	A	C	4: 138,170,565	D1026A	probably damaging	Het
Eif5b	T	C	1: 38,051,199	V1153A	probably damaging	Het
Ercc8	G	T	13: 108,160,767		probably benign	Het
Fam227a	C	A	15: 79,640,003		probably null	Het
Fat1	A	G	8: 45,036,275	I3505V	probably benign	Het
Fat3	T	G	9: 16,375,152	E1025A	probably damaging	Het
Fat4	C	T	3: 38,957,452	R2234W	probably damaging	Het
Fer1l4	G	T	2: 156,045,089	F634L	probably damaging	Het
Fetub	G	A	16: 22,937,874	V162I	probably benign	Het
Fgd4	T	C	16: 16,484,538	Q51R	probably benign	Het
Fgfr2	T	C	7: 130,198,445	H140R	probably benign	Het
Flt3	T	A	5: 147,356,375		probably null	Het
Gabrb1	A	G	5: 72,136,778	N465S	probably damaging	Het
Gapdhs	T	C	7: 30,733,266	I206V	probably benign	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Glp2r	T	C	11: 67,746,703		probably null	Het
Gm4956	T	A	1: 21,298,082		noncoding transcript	Het
Gtf2a1l	A	T	17: 88,714,922	D447V	probably damaging	Het
Hsd3b5	A	G	3: 98,619,063	W356R	probably damaging	Het
Idh2	A	T	7: 80,096,099	V335D	probably damaging	Het
Isyna1	T	C	8: 70,595,496	I184T	probably damaging	Het
Kcnh2	A	G	5: 24,331,087	S320P	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Kpna6	A	G	4: 129,648,032	F524S	probably damaging	Het
Lap3	A	T	5: 45,506,197	M338L	probably benign	Het
Lins1	T	C	7: 66,709,450		probably benign	Het
Llgl1	C	T	11: 60,709,568	P581L	probably benign	Het
Lrrc43	A	G	5: 123,501,063	D385G	probably benign	Het
Maf	T	C	8: 115,706,793	D24G	unknown	Het
Nell1	T	C	7: 50,062,638	S69P	probably benign	Het
Olfr1342	C	T	4: 118,689,892	V187I	possibly damaging	Het
Olfr1436	A	G	19: 12,298,896	S79P	possibly damaging	Het
Olfr531	T	A	7: 140,400,879	M56L	probably benign	Het
Olfr609	T	C	7: 103,492,251	D209G	probably damaging	Het
Olfr91	C	T	17: 37,093,592	G94E	probably damaging	Het
Olfr969	T	C	9: 39,795,864	M163T	possibly damaging	Het
Oxld1	T	C	11: 120,457,036	T112A	probably benign	Het
Parp14	T	C	16: 35,846,033	N1210S	probably benign	Het
Pcdhb10	C	A	18: 37,412,834	T321K	probably benign	Het
Pcdhb8	C	T	18: 37,356,006	L246F	probably benign	Het
Pcdhga1	T	A	18: 37,662,606	I221K	probably benign	Het
Pcdhga9	T	A	18: 37,738,132	V338E	probably damaging	Het
Pdcd11	T	C	19: 47,119,886	S1231P	probably damaging	Het
Pde6c	A	T	19: 38,151,565	L325F	probably damaging	Het
Pnpla7	T	A	2: 24,997,264		probably null	Het
Pparg	T	A	6: 115,490,110	V478E	probably damaging	Het
Ppib	T	C	9: 66,060,390	V42A	probably benign	Het
Ppox	T	C	1: 171,277,593	M341V	probably damaging	Het
Proc	T	C	18: 32,125,113	K260E	possibly damaging	Het
Ptpro	C	T	6: 137,392,765	P525L	probably damaging	Het
Rnf14	C	A	18: 38,308,382	A275E	probably damaging	Het
Scnn1b	C	T	7: 121,912,008	P306L	probably damaging	Het
Sec14l5	A	G	16: 5,176,500	E386G	probably damaging	Het
Sftpa1	T	A	14: 41,132,552	I32N	probably damaging	Het
Slc26a5	A	G	5: 21,820,386	I408T	probably damaging	Het
Slc7a13	A	G	4: 19,841,467	Y438C	probably damaging	Het
Spire1	T	C	18: 67,519,314	E231G	possibly damaging	Het
Stab1	T	A	14: 31,151,571	I1014F	probably benign	Het
Steap2	T	C	5: 5,677,651	Y228C	probably damaging	Het
Tmem131l	T	C	3: 83,899,239	T1487A	probably benign	Het
Tmem171	A	G	13: 98,692,295	F116L	possibly damaging	Het
Tmem215	T	C	4: 40,474,520	V199A	probably damaging	Het
Tmem45a	T	C	16: 56,822,289	N173S	possibly damaging	Het
Uqcrc2	C	T	7: 120,643,078	R148C	probably benign	Het
Xrcc6	T	C	15: 82,039,812	L229P	probably damaging	Het
Zfp184	A	G	13: 21,949,721	D46G	probably damaging	Het
Zfp790	T	A	7: 29,829,491	C534S	possibly damaging	Het
Zfp990	A	T	4: 145,536,837	N135I	probably damaging	Het

Other mutations in Vmn2r116

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Vmn2r116	APN	17	23,385,995 (GRCm38)	missense	possibly damaging	0.94
IGL00985:Vmn2r116	APN	17	23,401,515 (GRCm38)	missense	probably damaging	1.00
IGL00990:Vmn2r116	APN	17	23,387,236 (GRCm38)	missense	probably benign	0.12
IGL00990:Vmn2r116	APN	17	23,397,727 (GRCm38)	missense	probably damaging	1.00
IGL01383:Vmn2r116	APN	17	23,401,601 (GRCm38)	missense	probably damaging	1.00
IGL01459:Vmn2r116	APN	17	23,384,929 (GRCm38)	missense	probably damaging	1.00
IGL01725:Vmn2r116	APN	17	23,386,645 (GRCm38)	missense	probably damaging	1.00
IGL02125:Vmn2r116	APN	17	23,397,627 (GRCm38)	splice site	probably benign
IGL02170:Vmn2r116	APN	17	23,384,933 (GRCm38)	missense	probably benign
IGL02209:Vmn2r116	APN	17	23,388,787 (GRCm38)	missense	probably damaging	1.00
IGL02226:Vmn2r116	APN	17	23,384,834 (GRCm38)	missense	probably null
IGL02272:Vmn2r116	APN	17	23,386,004 (GRCm38)	missense	probably damaging	1.00
IGL02272:Vmn2r116	APN	17	23,385,999 (GRCm38)	missense	probably benign	0.06
IGL02403:Vmn2r116	APN	17	23,387,364 (GRCm38)	missense	probably damaging	1.00
IGL02686:Vmn2r116	APN	17	23,388,793 (GRCm38)	missense	probably damaging	0.99
IGL02750:Vmn2r116	APN	17	23,397,634 (GRCm38)	splice site	probably benign
IGL02977:Vmn2r116	APN	17	23,388,774 (GRCm38)	missense	possibly damaging	0.90
PIT4449001:Vmn2r116	UTSW	17	23,388,947 (GRCm38)	missense	probably benign	0.41
R0015:Vmn2r116	UTSW	17	23,401,849 (GRCm38)	missense	probably benign	0.03
R0219:Vmn2r116	UTSW	17	23,386,098 (GRCm38)	nonsense	probably null
R0281:Vmn2r116	UTSW	17	23,401,413 (GRCm38)	missense	possibly damaging	0.90
R0415:Vmn2r116	UTSW	17	23,387,279 (GRCm38)	missense	possibly damaging	0.55
R0592:Vmn2r116	UTSW	17	23,386,915 (GRCm38)	missense	probably damaging	0.99
R0610:Vmn2r116	UTSW	17	23,387,312 (GRCm38)	missense	probably damaging	1.00
R0635:Vmn2r116	UTSW	17	23,386,887 (GRCm38)	missense	possibly damaging	0.95
R0843:Vmn2r116	UTSW	17	23,400,960 (GRCm38)	missense	probably benign	0.01
R1329:Vmn2r116	UTSW	17	23,387,188 (GRCm38)	missense	possibly damaging	0.89
R1396:Vmn2r116	UTSW	17	23,386,141 (GRCm38)	missense	probably benign
R1401:Vmn2r116	UTSW	17	23,386,596 (GRCm38)	splice site	probably benign
R1574:Vmn2r116	UTSW	17	23,387,089 (GRCm38)	missense	probably damaging	0.99
R1574:Vmn2r116	UTSW	17	23,387,089 (GRCm38)	missense	probably damaging	0.99
R1766:Vmn2r116	UTSW	17	23,401,766 (GRCm38)	missense	probably damaging	0.98
R2157:Vmn2r116	UTSW	17	23,401,469 (GRCm38)	missense	probably damaging	1.00
R3622:Vmn2r116	UTSW	17	23,386,051 (GRCm38)	missense	probably benign	0.11
R3690:Vmn2r116	UTSW	17	23,384,824 (GRCm38)	missense	unknown
R4298:Vmn2r116	UTSW	17	23,401,827 (GRCm38)	missense	possibly damaging	0.69
R4373:Vmn2r116	UTSW	17	23,401,421 (GRCm38)	missense	probably benign	0.01
R4860:Vmn2r116	UTSW	17	23,401,803 (GRCm38)	missense	probably benign
R5119:Vmn2r116	UTSW	17	23,387,164 (GRCm38)	missense	probably benign	0.01
R5503:Vmn2r116	UTSW	17	23,386,804 (GRCm38)	missense	probably benign	0.07
R5510:Vmn2r116	UTSW	17	23,386,121 (GRCm38)	missense	probably damaging	1.00
R5538:Vmn2r116	UTSW	17	23,401,067 (GRCm38)	missense	probably benign	0.00
R5689:Vmn2r116	UTSW	17	23,397,719 (GRCm38)	missense	probably benign	0.30
R5765:Vmn2r116	UTSW	17	23,401,404 (GRCm38)	missense	probably damaging	0.99
R5794:Vmn2r116	UTSW	17	23,385,968 (GRCm38)	missense	probably damaging	0.99
R5807:Vmn2r116	UTSW	17	23,387,307 (GRCm38)	missense	probably damaging	1.00
R5837:Vmn2r116	UTSW	17	23,387,080 (GRCm38)	missense	probably damaging	1.00
R6262:Vmn2r116	UTSW	17	23,387,377 (GRCm38)	missense	probably benign	0.03
R6298:Vmn2r116	UTSW	17	23,386,762 (GRCm38)	missense	probably damaging	1.00
R6651:Vmn2r116	UTSW	17	23,388,831 (GRCm38)	nonsense	probably null
R6667:Vmn2r116	UTSW	17	23,401,092 (GRCm38)	missense	probably damaging	1.00
R7393:Vmn2r116	UTSW	17	23,386,125 (GRCm38)	missense	probably benign	0.14
R7571:Vmn2r116	UTSW	17	23,384,856 (GRCm38)	splice site	probably null
R7940:Vmn2r116	UTSW	17	23,386,972 (GRCm38)	missense	probably damaging	0.99
R8510:Vmn2r116	UTSW	17	23,385,931 (GRCm38)	nonsense	probably null
R8950:Vmn2r116	UTSW	17	23,401,493 (GRCm38)	missense	probably damaging	1.00
R8956:Vmn2r116	UTSW	17	23,386,762 (GRCm38)	missense	probably damaging	1.00
R8977:Vmn2r116	UTSW	17	23,386,942 (GRCm38)	missense	possibly damaging	0.56
R9030:Vmn2r116	UTSW	17	23,384,890 (GRCm38)	missense	possibly damaging	0.82
R9077:Vmn2r116	UTSW	17	23,385,982 (GRCm38)	missense	probably benign	0.14
R9223:Vmn2r116	UTSW	17	23,401,167 (GRCm38)	missense	probably damaging	1.00
R9401:Vmn2r116	UTSW	17	23,401,592 (GRCm38)	missense	probably damaging	1.00
R9449:Vmn2r116	UTSW	17	23,386,945 (GRCm38)	missense	probably benign	0.01
R9746:Vmn2r116	UTSW	17	23,401,823 (GRCm38)	missense	probably benign	0.08
R9755:Vmn2r116	UTSW	17	23,401,091 (GRCm38)	missense	probably damaging	1.00
R9759:Vmn2r116	UTSW	17	23,401,386 (GRCm38)	missense	possibly damaging	0.90
R9800:Vmn2r116	UTSW	17	23,401,425 (GRCm38)	missense	probably damaging	0.97
S24628:Vmn2r116	UTSW	17	23,387,279 (GRCm38)	missense	possibly damaging	0.55
Z1176:Vmn2r116	UTSW	17	23,401,428 (GRCm38)	missense	probably damaging	1.00
Z1177:Vmn2r116	UTSW	17	23,388,892 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTGGATAATTGTGTCCAGTGTCC -3'
(R):5'- GGAGGCTATGATTTTGAATGCCAG -3'

Sequencing Primer
(F):5'- ATAATTGTGTCCAGTGTCCAGAGG -3'
(R):5'- GCTATGATTTTGAATGCCAGAACTAC -3'

Posted On

2016-04-27