Mutagenetix > Incidental Mutation

Incidental Mutation 'R9077:Vmn2r116'

689872

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r116

Ensembl Gene

ENSMUSG00000090966

Gene Name

vomeronasal 2, receptor 116

Synonyms

V2Rp5, EG619697

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R9077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23384803-23401864 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23385982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 90 (D90Y)

Ref Sequence

ENSEMBL: ENSMUSP00000128106 (fasta)

Gene Model

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

AlphaFold

E9Q6I0

Predicted Effect

probably benign
Transcript: ENSMUST00000164856
AA Change: D90Y

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: D90Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.5%

Validation Efficiency

100% (48/48)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	A	G	7: 139,987,639	V397A	probably benign	Het
AF067063	T	C	13: 119,828,349	M104V	probably benign	Het
Alkbh3	A	G	2: 93,981,580	V235A	probably damaging	Het
Arfgef2	A	G	2: 166,864,801	I982V	probably damaging	Het
Arfgef3	T	C	10: 18,625,151	D1117G	possibly damaging	Het
Arhgap31	G	T	16: 38,602,368	A1112D	probably damaging	Het
Arhgef4	T	C	1: 34,721,743	C27R	unknown	Het
Bzw1	T	A	1: 58,399,031	M90K	probably benign	Het
C330027C09Rik	A	G	16: 49,007,148	I459V	probably benign	Het
Cdk17	T	C	10: 93,232,415	Y345H	probably damaging	Het
Cog8	C	T	8: 107,052,576	M356I	probably damaging	Het
Ctsw	T	C	19: 5,466,403	D173G	probably benign	Het
Dnah6	A	T	6: 73,144,046	C1488*	probably null	Het
Dnah7a	T	C	1: 53,702,059	K13E	unknown	Het
Eif3f	A	G	7: 108,940,218	M232V	probably benign	Het
Gk5	C	A	9: 96,119,581	T44K	probably benign	Het
Glrb	A	G	3: 80,855,910	F260S	probably damaging	Het
Glyctk	C	A	9: 106,155,323	R497L	probably benign	Het
Gm10153	G	T	7: 142,189,646	C248*	probably null	Het
Hand2	A	G	8: 57,323,801	K199E	probably damaging	Het
Heatr1	T	A	13: 12,413,366	C795S	probably benign	Het
Il31ra	T	C	13: 112,533,827	I342M	probably benign	Het
Itm2b	G	T	14: 73,368,425	D40E	probably benign	Het
Ksr1	T	C	11: 79,036,726	T371A	probably damaging	Het
Lctl	C	A	9: 64,131,959		probably benign	Het
Lpin1	G	A	12: 16,541,746	P827S		Het
Lyst	T	C	13: 13,683,108	I2494T	probably benign	Het
Mia2	A	G	12: 59,179,974	N510S	possibly damaging	Het
Mycbp2	T	C	14: 103,232,538	D1308G	probably damaging	Het
Naip2	C	T	13: 100,154,951	D1160N	probably benign	Het
Naip2	T	C	13: 100,154,960	S1157G	probably benign	Het
Olfr531	G	A	7: 140,400,896	P50L	probably benign	Het
Olfr657	C	T	7: 104,636,084	R137C	probably benign	Het
Olfr657	A	G	7: 104,636,411	T246A	probably damaging	Het
Omt2b	T	C	9: 78,328,266		probably null	Het
Pan2	A	G	10: 128,312,987	Y490C	probably damaging	Het
Pard6g	A	G	18: 80,117,557	E295G	probably damaging	Het
Pcdhb8	T	C	18: 37,356,361	V23A	probably damaging	Het
Phactr3	A	T	2: 178,332,965		probably benign	Het
Pip	G	A	6: 41,851,454	S74N	probably damaging	Het
Plau	G	A	14: 20,839,881	E265K	probably benign	Het
Pmm1	C	T	15: 81,955,695	R143H	probably damaging	Het
Rcor3	C	T	1: 192,123,565	D230N	probably damaging	Het
Siglec15	A	G	18: 78,048,768	Y73H	possibly damaging	Het
Spag16	T	A	1: 70,493,771		probably benign	Het
Spta1	G	T	1: 174,217,604	D1506Y	probably damaging	Het
Tacr3	A	T	3: 134,929,950	Y305F	probably benign	Het
Vmn1r83	G	A	7: 12,321,644	T162M	probably damaging	Het
Wdr76	A	G	2: 121,534,127	N304S	probably benign	Het
Wee1	G	A	7: 110,126,756	V358I	probably damaging	Het
Zan	G	A	5: 137,403,206	P4084S	unknown	Het

Other mutations in Vmn2r116

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Vmn2r116	APN	17	23385995	missense	possibly damaging	0.94
IGL00985:Vmn2r116	APN	17	23401515	missense	probably damaging	1.00
IGL00990:Vmn2r116	APN	17	23397727	missense	probably damaging	1.00
IGL00990:Vmn2r116	APN	17	23387236	missense	probably benign	0.12
IGL01383:Vmn2r116	APN	17	23401601	missense	probably damaging	1.00
IGL01459:Vmn2r116	APN	17	23384929	missense	probably damaging	1.00
IGL01725:Vmn2r116	APN	17	23386645	missense	probably damaging	1.00
IGL02125:Vmn2r116	APN	17	23397627	splice site	probably benign
IGL02170:Vmn2r116	APN	17	23384933	missense	probably benign
IGL02209:Vmn2r116	APN	17	23388787	missense	probably damaging	1.00
IGL02226:Vmn2r116	APN	17	23384834	missense	probably null
IGL02272:Vmn2r116	APN	17	23385999	missense	probably benign	0.06
IGL02272:Vmn2r116	APN	17	23386004	missense	probably damaging	1.00
IGL02403:Vmn2r116	APN	17	23387364	missense	probably damaging	1.00
IGL02686:Vmn2r116	APN	17	23388793	missense	probably damaging	0.99
IGL02750:Vmn2r116	APN	17	23397634	splice site	probably benign
IGL02977:Vmn2r116	APN	17	23388774	missense	possibly damaging	0.90
PIT4449001:Vmn2r116	UTSW	17	23388947	missense	probably benign	0.41
R0015:Vmn2r116	UTSW	17	23401849	missense	probably benign	0.03
R0219:Vmn2r116	UTSW	17	23386098	nonsense	probably null
R0281:Vmn2r116	UTSW	17	23401413	missense	possibly damaging	0.90
R0415:Vmn2r116	UTSW	17	23387279	missense	possibly damaging	0.55
R0592:Vmn2r116	UTSW	17	23386915	missense	probably damaging	0.99
R0610:Vmn2r116	UTSW	17	23387312	missense	probably damaging	1.00
R0635:Vmn2r116	UTSW	17	23386887	missense	possibly damaging	0.95
R0843:Vmn2r116	UTSW	17	23400960	missense	probably benign	0.01
R1329:Vmn2r116	UTSW	17	23387188	missense	possibly damaging	0.89
R1396:Vmn2r116	UTSW	17	23386141	missense	probably benign
R1401:Vmn2r116	UTSW	17	23386596	splice site	probably benign
R1574:Vmn2r116	UTSW	17	23387089	missense	probably damaging	0.99
R1574:Vmn2r116	UTSW	17	23387089	missense	probably damaging	0.99
R1766:Vmn2r116	UTSW	17	23401766	missense	probably damaging	0.98
R2157:Vmn2r116	UTSW	17	23401469	missense	probably damaging	1.00
R3622:Vmn2r116	UTSW	17	23386051	missense	probably benign	0.11
R3690:Vmn2r116	UTSW	17	23384824	missense	unknown
R4298:Vmn2r116	UTSW	17	23401827	missense	possibly damaging	0.69
R4373:Vmn2r116	UTSW	17	23401421	missense	probably benign	0.01
R4860:Vmn2r116	UTSW	17	23401803	missense	probably benign
R4941:Vmn2r116	UTSW	17	23401142	missense	probably damaging	1.00
R5119:Vmn2r116	UTSW	17	23387164	missense	probably benign	0.01
R5503:Vmn2r116	UTSW	17	23386804	missense	probably benign	0.07
R5510:Vmn2r116	UTSW	17	23386121	missense	probably damaging	1.00
R5538:Vmn2r116	UTSW	17	23401067	missense	probably benign	0.00
R5689:Vmn2r116	UTSW	17	23397719	missense	probably benign	0.30
R5765:Vmn2r116	UTSW	17	23401404	missense	probably damaging	0.99
R5794:Vmn2r116	UTSW	17	23385968	missense	probably damaging	0.99
R5807:Vmn2r116	UTSW	17	23387307	missense	probably damaging	1.00
R5837:Vmn2r116	UTSW	17	23387080	missense	probably damaging	1.00
R6262:Vmn2r116	UTSW	17	23387377	missense	probably benign	0.03
R6298:Vmn2r116	UTSW	17	23386762	missense	probably damaging	1.00
R6651:Vmn2r116	UTSW	17	23388831	nonsense	probably null
R6667:Vmn2r116	UTSW	17	23401092	missense	probably damaging	1.00
R7393:Vmn2r116	UTSW	17	23386125	missense	probably benign	0.14
R7571:Vmn2r116	UTSW	17	23384856	splice site	probably null
R7940:Vmn2r116	UTSW	17	23386972	missense	probably damaging	0.99
R8510:Vmn2r116	UTSW	17	23385931	nonsense	probably null
R8950:Vmn2r116	UTSW	17	23401493	missense	probably damaging	1.00
R8956:Vmn2r116	UTSW	17	23386762	missense	probably damaging	1.00
R8977:Vmn2r116	UTSW	17	23386942	missense	possibly damaging	0.56
R9030:Vmn2r116	UTSW	17	23384890	missense	possibly damaging	0.82
R9223:Vmn2r116	UTSW	17	23401167	missense	probably damaging	1.00
R9401:Vmn2r116	UTSW	17	23401592	missense	probably damaging	1.00
R9449:Vmn2r116	UTSW	17	23386945	missense	probably benign	0.01
R9746:Vmn2r116	UTSW	17	23401823	missense	probably benign	0.08
R9755:Vmn2r116	UTSW	17	23401091	missense	probably damaging	1.00
R9759:Vmn2r116	UTSW	17	23401386	missense	possibly damaging	0.90
R9800:Vmn2r116	UTSW	17	23401425	missense	probably damaging	0.97
S24628:Vmn2r116	UTSW	17	23387279	missense	possibly damaging	0.55
Z1176:Vmn2r116	UTSW	17	23401428	missense	probably damaging	1.00
Z1177:Vmn2r116	UTSW	17	23388892	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGTCATCTCAACCACATTACACAG -3'
(R):5'- ATGAAGTGTCACAGTTGTTGC -3'

Sequencing Primer
(F):5'- CAGATCATTTCAATCTTCATGGGGTG -3'
(R):5'- CCCAATTCATGTTTGTAAGGGCCAG -3'

Posted On

2021-11-19