Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4449001:Vmn2r116'

555753

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r116

Ensembl Gene

ENSMUSG00000090966

Gene Name

vomeronasal 2, receptor 116

Synonyms

V2Rp5, EG619697

Accession Numbers

Essential gene?

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

Stock #

PIT4449001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23603777-23620838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 23607921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 496 (L496F)

Ref Sequence

ENSEMBL: ENSMUSP00000128106 (fasta)

Gene Model

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

AlphaFold

E9Q6I0

Predicted Effect

probably benign
Transcript: ENSMUST00000164856
AA Change: L496F

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: L496F

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: 93.3%
3x: 90.8%
10x: 84.7%
20x: 71.6%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asf1b	A	G	8: 84,694,611 (GRCm39)	N125S	probably benign	Het
BC048671	T	A	6: 90,282,145 (GRCm39)	L101I	probably damaging	Het
Camta1	A	G	4: 151,216,043 (GRCm39)	L959P	probably benign	Het
Cfap91	T	C	16: 38,148,720 (GRCm39)	E236G	probably damaging	Het
Cfh	C	A	1: 140,040,303 (GRCm39)	V598F	probably damaging	Het
Cyp2j7	G	T	4: 96,103,575 (GRCm39)	T320K	probably damaging	Het
Ddr1	A	G	17: 35,998,141 (GRCm39)	I468T	possibly damaging	Het
Dhx15	A	G	5: 52,318,300 (GRCm39)	V510A	probably damaging	Het
Dpp4	T	A	2: 62,186,988 (GRCm39)	K507N	probably benign	Het
Evpl	G	A	11: 116,124,225 (GRCm39)	T198M	possibly damaging	Het
Gabbr1	G	A	17: 37,367,242 (GRCm39)	V373I	probably damaging	Het
Gak	A	T	5: 108,728,791 (GRCm39)	S1049T	probably benign	Het
Gipr	C	T	7: 18,894,543 (GRCm39)	R253H	probably benign	Het
Gm3685	T	A	14: 7,043,960 (GRCm38)	M73L	probably benign	Het
Gm5168	C	T	X: 25,994,840 (GRCm39)	R129Q	probably null	Het
Kcnh1	T	A	1: 192,100,992 (GRCm39)	V555D	probably damaging	Het
Kif26b	T	C	1: 178,745,651 (GRCm39)	S1916P	probably damaging	Het
Lingo4	T	C	3: 94,309,239 (GRCm39)	V59A	probably benign	Het
Mroh8	T	A	2: 157,067,454 (GRCm39)	Q635L	probably damaging	Het
Msh6	T	A	17: 88,293,616 (GRCm39)	D790E	probably damaging	Het
Nrxn1	A	T	17: 90,905,007 (GRCm39)	W809R	probably damaging	Het
Or5ac19	C	A	16: 59,089,493 (GRCm39)	C179F	probably damaging	Het
Polr3d	T	C	14: 70,676,903 (GRCm39)	H397R	probably benign	Het
Pwp2	G	A	10: 78,014,304 (GRCm39)	T432I	probably benign	Het
Rad21	G	C	15: 51,836,639 (GRCm39)	F177L	probably benign	Het
Rnf182	G	A	13: 43,822,153 (GRCm39)	V235I	probably benign	Het
Scn11a	C	T	9: 119,599,014 (GRCm39)	C1172Y	probably damaging	Het
Sh2b3	A	G	5: 121,966,742 (GRCm39)	L124P	possibly damaging	Het
Six2	T	C	17: 85,992,906 (GRCm39)	N199S	probably benign	Het
Slc5a3	A	G	16: 91,874,702 (GRCm39)	D253G	probably benign	Het
Synm	A	G	7: 67,385,025 (GRCm39)	M879T	probably benign	Het
Tasp1	A	G	2: 139,752,455 (GRCm39)	I328T	possibly damaging	Het
Tbrg4	T	C	11: 6,569,689 (GRCm39)	Q309R	probably damaging	Het
Tmtc2	A	G	10: 105,139,465 (GRCm39)	L687P	probably damaging	Het
Trgc3	A	T	13: 19,447,532 (GRCm39)	R162*	probably null	Het
Tufm	T	C	7: 126,086,621 (GRCm39)	M1T	probably null	Het
Vmn2r75	C	T	7: 85,814,791 (GRCm39)	C234Y	probably damaging	Het
Wars2	G	T	3: 99,112,595 (GRCm39)	V162L	possibly damaging	Het
Zc3h11a	A	T	1: 133,552,349 (GRCm39)	V586D	probably benign	Het
Zdhhc5	A	T	2: 84,520,571 (GRCm39)	N535K	probably damaging	Het
Zfp52	T	C	17: 21,777,478 (GRCm39)	Y38H	probably damaging	Het
Zfp729b	T	C	13: 67,739,542 (GRCm39)	M908V	probably benign	Het
Zfp772	T	C	7: 7,207,350 (GRCm39)	I114V	probably benign	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
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
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'- CCCAGCATATTGCCAATAAAGTTG -3'
(R):5'- TTCACGTTGGAAATCCTCAATG -3'

Sequencing Primer
(F):5'- GCCAATAAAGTTGCCTTTAAGATGAG -3'
(R):5'- CACGTTGGAAATCCTCAATGAATTAC -3'

Posted On

2019-06-07