Mutagenetix > Incidental Mutation

Incidental Mutation 'R0843:Vmn2r116'

77272

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r116

Ensembl Gene

ENSMUSG00000090966

Gene Name

vomeronasal 2, receptor 116

Synonyms

V2Rp5, EG619697

MMRRC Submission

039022-MU

Accession Numbers

Essential gene?

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

Stock #

R0843 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23603777-23620838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23619934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 556 (V556A)

Ref Sequence

ENSEMBL: ENSMUSP00000128106 (fasta)

Gene Model

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

AlphaFold

E9Q6I0

Predicted Effect

probably benign
Transcript: ENSMUST00000164856
AA Change: V556A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: V556A

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.5%
20x: 92.6%

Validation Efficiency

98% (40/41)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb2	T	C	18: 62,312,142 (GRCm39)	R228G	probably benign	Het
Arrdc3	T	C	13: 81,038,922 (GRCm39)		probably benign	Het
Cacna1d	T	C	14: 29,846,828 (GRCm39)	Y526C	probably damaging	Het
Cenpn	T	C	8: 117,660,045 (GRCm39)	V125A	probably benign	Het
Cyfip1	A	T	7: 55,572,568 (GRCm39)	H963L	probably benign	Het
Dnah8	T	C	17: 31,032,069 (GRCm39)	Y4130H	probably damaging	Het
Dnmt3a	T	C	12: 3,922,886 (GRCm39)		probably benign	Het
Dync1h1	C	T	12: 110,631,647 (GRCm39)	T4448M	possibly damaging	Het
Efr3a	T	A	15: 65,709,272 (GRCm39)		probably benign	Het
Fgf11	T	G	11: 69,689,602 (GRCm39)		probably benign	Het
Gabrr1	T	A	4: 33,161,717 (GRCm39)	I347N	possibly damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Hspa1b	T	A	17: 35,176,524 (GRCm39)	N487I	possibly damaging	Het
Ifi207	A	T	1: 173,555,143 (GRCm39)	N853K	probably damaging	Het
Iqgap3	A	G	3: 88,015,738 (GRCm39)	D40G	possibly damaging	Het
Iyd	T	C	10: 3,495,663 (GRCm39)	V107A	possibly damaging	Het
Kctd3	A	T	1: 188,729,170 (GRCm39)	L129*	probably null	Het
Myo7b	A	G	18: 32,107,137 (GRCm39)	F1286S	possibly damaging	Het
Or4a47	C	T	2: 89,665,960 (GRCm39)	V110I	probably benign	Het
Or52s1b	T	A	7: 102,822,326 (GRCm39)	T173S	possibly damaging	Het
Or8c15	T	A	9: 38,120,579 (GRCm39)	F77I	possibly damaging	Het
Pcsk5	T	A	19: 17,632,182 (GRCm39)	Y328F	probably damaging	Het
Plxnb1	T	C	9: 108,942,769 (GRCm39)	L1810P	probably benign	Het
Polr2h	T	A	16: 20,537,649 (GRCm39)	V50E	probably damaging	Het
Ppm1g	T	C	5: 31,364,895 (GRCm39)		probably benign	Het
Ptpru	T	A	4: 131,525,259 (GRCm39)	R741S	probably benign	Het
Pyroxd2	T	C	19: 42,735,986 (GRCm39)	E64G	probably damaging	Het
Rad54b	T	C	4: 11,609,471 (GRCm39)		probably null	Het
Rangap1	A	T	15: 81,594,703 (GRCm39)	D375E	probably benign	Het
Rhbdf1	G	A	11: 32,165,053 (GRCm39)	R107C	probably damaging	Het
Scaf11	T	C	15: 96,329,706 (GRCm39)	E140G	probably damaging	Het
Slitrk6	G	T	14: 110,987,530 (GRCm39)	H726N	probably benign	Het
Spry2	A	G	14: 106,130,524 (GRCm39)	C221R	probably damaging	Het
Stx2	C	T	5: 129,076,612 (GRCm39)	V24M	probably damaging	Het
Tent5b	T	C	4: 133,213,842 (GRCm39)	S238P	probably damaging	Het
Tll2	T	A	19: 41,116,902 (GRCm39)		probably null	Het
Ttyh3	C	A	5: 140,612,201 (GRCm39)		probably null	Het
Xpo5	T	C	17: 46,533,576 (GRCm39)		probably benign	Het
Zc3h3	A	G	15: 75,709,328 (GRCm39)	S514P	probably benign	Het
Zfp277	A	C	12: 40,370,599 (GRCm39)		probably null	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
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
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'- TGTTGCTTTCATTTCCCTAATAATCATCACCA -3'
(R):5'- GCTCTCAGCCAGACTGCACATACAATAA -3'

Sequencing Primer
(F):5'- caccacctcagtctccattc -3'
(R):5'- GGCTATGATTTTGAATGCCAGAAC -3'

Posted On

2013-10-16