Mutagenetix > Incidental Mutation

Incidental Mutation 'R8956:Vmn2r116'

682060

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r116

Ensembl Gene

ENSMUSG00000090966

Gene Name

vomeronasal 2, receptor 116

Synonyms

V2Rp5, EG619697

MMRRC Submission

068792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R8956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23384803-23401864 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23386762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 216 (D216V)

Ref Sequence

ENSEMBL: ENSMUSP00000128106 (fasta)

Gene Model

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

AlphaFold

E9Q6I0

Predicted Effect

probably damaging
Transcript: ENSMUST00000164856
AA Change: D216V

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

SMART Domains

Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: D216V

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: 99.6%
20x: 98.7%

Validation Efficiency

98% (87/89)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	C	T	7: 79,100,965	T1828I	probably benign	Het
Acsf2	A	G	11: 94,570,385	S322P	probably benign	Het
Acss2	T	A	2: 155,549,518	I170N	probably damaging	Het
Adam22	G	A	5: 8,092,343	T814I	probably damaging	Het
Agrn	G	T	4: 156,166,538	D1914E	probably damaging	Het
Akap6	T	C	12: 53,140,344	S1514P	probably benign	Het
Akap9	T	C	5: 3,948,805	L58P	possibly damaging	Het
Apof	A	G	10: 128,269,843	I289V	probably benign	Het
Arhgap35	G	A	7: 16,614,479		probably benign	Het
Atad3a	A	C	4: 155,753,597	F239L	probably damaging	Het
Atf6	T	C	1: 170,794,007	T482A	probably damaging	Het
Atg9b	T	C	5: 24,386,852		probably benign	Het
Atp8b4	T	A	2: 126,325,407		probably null	Het
B4galt5	T	C	2: 167,301,340	Y388C	probably damaging	Het
Bahd1	T	C	2: 118,919,208	L495P	probably damaging	Het
Bcl6	T	C	16: 23,974,966	E77G	probably damaging	Het
Bst1	C	A	5: 43,825,374	S187*	probably null	Het
Car4	A	G	11: 84,964,551	N170S	probably null	Het
Cdk14	A	T	5: 5,227,182	V131E	probably damaging	Het
Cdk4	T	A	10: 127,064,677		probably benign	Het
Cebpe	T	C	14: 54,711,664	R99G	probably damaging	Het
Col9a1	G	A	1: 24,237,219	G736D	probably damaging	Het
Copa	T	A	1: 172,109,913	V477D	possibly damaging	Het
Coq9	G	A	8: 94,850,258	G166D	probably benign	Het
Cttnbp2	A	T	6: 18,434,166	N564K	possibly damaging	Het
Dgkq	T	C	5: 108,650,229	N721S	probably benign	Het
Dnhd1	A	T	7: 105,692,645	Y1217F	probably damaging	Het
Eef1akmt4	G	T	16: 20,618,648	E247*	probably null	Het
Elmsan1	T	A	12: 84,162,328	I667L	probably benign	Het
Elovl7	A	T	13: 108,256,786	I18F	probably benign	Het
Eml5	T	C	12: 98,852,693	K785E	possibly damaging	Het
Faap100	C	A	11: 120,377,359	C196F	probably damaging	Het
Fat2	G	A	11: 55,282,903	T2328M	probably damaging	Het
Gcnt2	T	A	13: 40,887,728	I121N	probably benign	Het
Gm12253	A	G	11: 58,436,779	K152E	probably benign	Het
Gm16440	T	A	14: 6,387,488	R167*	probably null	Het
Gm43302	T	A	5: 105,277,736	I276F	possibly damaging	Het
Gys2	A	G	6: 142,428,541	S593P	probably damaging	Het
H2-M10.4	T	A	17: 36,461,353	N168Y	probably benign	Het
Hpca	C	A	4: 129,118,494	R83L	probably damaging	Het
Igkv8-28	A	G	6: 70,144,125	F13L	probably benign	Het
Il17ra	A	T	6: 120,481,504	I539F	probably damaging	Het
Kdm4a	A	G	4: 118,161,816	V401A	possibly damaging	Het
Krt86	A	T	15: 101,477,276	T351S	probably benign	Het
Lig4	A	G	8: 9,971,378	C801R	probably benign	Het
Lrrn4	G	A	2: 132,872,091	P312S	probably damaging	Het
Macf1	T	A	4: 123,474,848	H2040L	probably benign	Het
Madcam1	A	G	10: 79,666,632	K317E	possibly damaging	Het
Maip1	T	C	1: 57,411,802	I201T	probably damaging	Het
Map4k4	C	A	1: 40,000,680	D513E	probably benign	Het
Mpped1	G	A	15: 83,856,268	G137R	probably damaging	Het
Mrgprd	T	G	7: 145,322,186	F265V	probably benign	Het
Myct1	C	T	10: 5,604,208	T25I	probably damaging	Het
Mylk	A	G	16: 34,971,409	T1484A	probably benign	Het
Nbas	C	T	12: 13,432,922	S1400L	possibly damaging	Het
Nedd4	T	A	9: 72,726,426	S405T	probably benign	Het
Neil2	A	G	14: 63,191,778	V22A	probably damaging	Het
Nrip1	G	C	16: 76,292,305	A788G	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr1344	G	A	7: 6,439,021		probably benign	Het
Olfr1535	T	C	13: 21,555,999	I8V	probably benign	Het
Olfr456	T	A	6: 42,486,896	Q99L	probably damaging	Het
Olfr479	A	G	7: 108,055,953	T324A	probably benign	Het
Olfr811	C	T	10: 129,802,353	M57I	possibly damaging	Het
Olfr961	C	T	9: 39,647,200	T158I	probably damaging	Het
Orc2	T	C	1: 58,466,062	N478S	probably damaging	Het
Oxct1	A	G	15: 4,035,324	E48G	possibly damaging	Het
Pcca	A	G	14: 122,737,912	I28V	probably benign	Het
Pcdha8	T	C	18: 36,993,188	V241A	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pkd2	T	A	5: 104,483,224	W505R	probably damaging	Het
Plxnc1	C	T	10: 94,910,586	V430I	probably benign	Het
Prkd3	A	G	17: 78,971,454	M401T	probably damaging	Het
Rgmb	A	G	17: 15,807,486	C324R	probably benign	Het
Rsph6a	A	T	7: 19,065,439		probably benign	Het
Sclt1	A	T	3: 41,681,774	M264K	probably benign	Het
Serhl	T	A	15: 83,101,698	V30D	possibly damaging	Het
Sfrp1	T	C	8: 23,412,143	V120A	probably damaging	Het
Slc22a8	C	T	19: 8,609,666	Q408*	probably null	Het
Slc35b2	A	G	17: 45,566,747	T218A	probably damaging	Het
Slco4c1	A	T	1: 96,837,517	F403I	probably damaging	Het
Sorbs1	T	A	19: 40,363,216	H250L	probably damaging	Het
Sorcs3	T	A	19: 48,749,371	C742*	probably null	Het
Tmem8	T	A	17: 26,120,400	S563T	possibly damaging	Het
Tnc	T	C	4: 64,000,733	Y1151C	probably damaging	Het
Tor1aip1	T	A	1: 156,033,836		probably benign	Het
Trim9	T	C	12: 70,346,891	Q93R	probably damaging	Het
Tsnaxip1	A	G	8: 105,844,181	Y613C	probably damaging	Het
Ttc6	C	T	12: 57,728,410	Q1631*	probably null	Het
Ubr5	A	G	15: 38,015,123	L881P	probably damaging	Het
Upp2	C	T	2: 58,567,442		probably benign	Het
Vmn1r203	T	A	13: 22,524,834	S262T	possibly damaging	Het
Vps52	A	G	17: 33,958,075	Q96R	probably benign	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
R8977:Vmn2r116	UTSW	17	23386942	missense	possibly damaging	0.56
R9030:Vmn2r116	UTSW	17	23384890	missense	possibly damaging	0.82
R9077:Vmn2r116	UTSW	17	23385982	missense	probably benign	0.14
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'- AGAATTCATTGTACCTCCTGCTGC -3'
(R):5'- GCTCACAGCTAAGGTACTGTC -3'

Sequencing Primer
(F):5'- ATTGTACCTCCTGCTGCTTCCTG -3'
(R):5'- CACAGCTAAGGTACTGTCTGTATCAC -3'

Posted On

2021-08-31