Mutagenetix > Incidental Mutation

Incidental Mutation 'R5794:Vmn2r116'

447147

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r116

Ensembl Gene

ENSMUSG00000090966

Gene Name

vomeronasal 2, receptor 116

Synonyms

V2Rp5, EG619697

MMRRC Submission

043385-MU

Accession Numbers

Essential gene?

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

Stock #

R5794 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23603777-23620838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23604942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 85 (I85T)

Ref Sequence

ENSEMBL: ENSMUSP00000128106 (fasta)

Gene Model

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

AlphaFold

E9Q6I0

Predicted Effect

probably damaging
Transcript: ENSMUST00000164856
AA Change: I85T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: I85T

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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aftph	T	C	11: 20,676,955 (GRCm39)		probably null	Het
Ank2	T	C	3: 126,723,669 (GRCm39)	N923S	probably benign	Het
Ano6	A	T	15: 95,792,405 (GRCm39)	T76S	probably benign	Het
Carmil1	G	T	13: 24,276,533 (GRCm39)	N204K	probably damaging	Het
Cep126	T	G	9: 8,103,440 (GRCm39)	N190T	possibly damaging	Het
Clasrp	A	T	7: 19,325,034 (GRCm39)	D198E	probably damaging	Het
Cma1	T	C	14: 56,181,977 (GRCm39)	T18A	probably benign	Het
Ece1	A	G	4: 137,683,844 (GRCm39)	I565M	probably damaging	Het
Etl4	T	A	2: 20,811,323 (GRCm39)	F1135L	probably damaging	Het
Fbxw20	T	C	9: 109,052,358 (GRCm39)	N325S	probably damaging	Het
Fbxw20	A	T	9: 109,062,668 (GRCm39)	C53S	possibly damaging	Het
Gnb2	T	C	5: 137,526,961 (GRCm39)	D203G	probably benign	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hoxd9	T	A	2: 74,529,617 (GRCm39)	F291Y	probably damaging	Het
Igf2r	T	C	17: 12,928,332 (GRCm39)	S1004G	probably benign	Het
Irgm1	T	C	11: 48,757,064 (GRCm39)	Y249C	probably damaging	Het
Kcnh3	A	C	15: 99,130,855 (GRCm39)	I491L	probably benign	Het
Kctd10	G	A	5: 114,505,398 (GRCm39)	R199W	probably damaging	Het
Klk1b4	A	T	7: 43,859,069 (GRCm39)	N29I	probably damaging	Het
Klrc1	C	T	6: 129,652,317 (GRCm39)	R188Q	probably damaging	Het
Krt32	C	A	11: 99,975,812 (GRCm39)	C275F	probably damaging	Het
Krt73	T	A	15: 101,703,264 (GRCm39)	T449S	probably benign	Het
Napepld	T	A	5: 21,888,429 (GRCm39)	S7C	possibly damaging	Het
Nfia	G	T	4: 97,671,838 (GRCm39)	V183L	possibly damaging	Het
Or5g27	T	C	2: 85,409,685 (GRCm39)	V34A	probably benign	Het
Or6c3	A	C	10: 129,309,295 (GRCm39)	I245L	possibly damaging	Het
Psma3	A	G	12: 71,037,271 (GRCm39)	T111A	probably benign	Het
Psmd11	T	A	11: 80,362,318 (GRCm39)	D125E	probably benign	Het
Rabgap1	T	A	2: 37,392,914 (GRCm39)	D523E	probably benign	Het
Rttn	G	T	18: 89,013,693 (GRCm39)	R454L	probably benign	Het
Serpine2	T	C	1: 79,799,156 (GRCm39)	N33D	probably benign	Het
Six4	A	T	12: 73,159,124 (GRCm39)	S271T	possibly damaging	Het
Smoc2	T	A	17: 14,589,310 (GRCm39)	C260S	possibly damaging	Het
Snai2	A	T	16: 14,524,590 (GRCm39)	Y32F	probably benign	Het
Tapt1	C	T	5: 44,334,476 (GRCm39)	G505D	probably benign	Het
Thap12	T	A	7: 98,365,600 (GRCm39)	D589E	probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Zfp592	G	T	7: 80,674,781 (GRCm39)	V582L	probably benign	Het
Zfp827	T	C	8: 79,797,071 (GRCm39)	W386R	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
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

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

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

Posted On

2016-12-15