Mutagenetix > Incidental Mutation

Incidental Mutation 'R9244:Vmn2r117'

701179

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r117

Ensembl Gene

ENSMUSG00000091407

Gene Name

vomeronasal 2, receptor 117

Synonyms

EG619788

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R9244 (G1)

Quality Score

180.009

Status

Not validated

Chromosome

Chromosomal Location

23459675-23479597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23477615 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 273 (I273F)

Ref Sequence

ENSEMBL: ENSMUSP00000126885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171996]

AlphaFold

K7N6V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000171996
AA Change: I273F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: I273F

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	471	2.6e-28	PFAM
Pfam:NCD3G	512	565	5e-20	PFAM
Pfam:7tm_3	595	833	8.2e-54	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	G	5: 9,410,700	Y207C	probably damaging	Het
Abca13	A	G	11: 9,291,577	I1147V	probably benign	Het
Adcy10	A	G	1: 165,543,110	T653A	probably benign	Het
App	A	G	16: 84,962,741	I656T	probably damaging	Het
Arnt	T	A	3: 95,490,568	I574N	possibly damaging	Het
Cdc42	T	C	4: 137,329,080	T75A	probably benign	Het
Cdh23	C	A	10: 60,413,663	K822N	possibly damaging	Het
Chrnb3	T	A	8: 27,394,566	L444I	unknown	Het
Ctnnbl1	G	T	2: 157,836,663	K395N	possibly damaging	Het
Dmxl1	T	A	18: 49,893,249	I1808K	probably benign	Het
Dnajb8	C	A	6: 88,222,902	P140Q	probably damaging	Het
Dock5	G	A	14: 67,759,114	R1727W	probably damaging	Het
Dscam	G	A	16: 96,685,229	T1082I	possibly damaging	Het
Eaf1	T	C	14: 31,497,809		probably benign	Het
Enpp3	T	C	10: 24,778,791	D663G	probably damaging	Het
Epha5	A	G	5: 84,117,582	V451A	probably benign	Het
Erap1	G	A	13: 74,673,784		probably null	Het
Esco2	A	G	14: 65,821,639	W530R	probably damaging	Het
Fam160a2	A	G	7: 105,389,663	V123A	possibly damaging	Het
Fhod3	T	C	18: 25,115,865	I1367T	probably damaging	Het
Fryl	T	C	5: 73,191,519		probably benign	Het
Gm15448	T	C	7: 3,822,227	D472G	unknown	Het
Gm42669	A	G	5: 107,508,504	T295A	possibly damaging	Het
Harbi1	A	G	2: 91,712,695	N167S	probably damaging	Het
Hfm1	A	C	5: 106,874,900	N945K	probably damaging	Het
Hook3	A	G	8: 26,071,056		probably null	Het
Htr1f	G	T	16: 64,926,494	T145K	probably benign	Het
Igf2bp2	A	C	16: 22,068,151	S453A	possibly damaging	Het
Ipo4	A	T	14: 55,634,342	W116R	probably damaging	Het
Jak1	T	C	4: 101,157,843	H917R	probably benign	Het
Klrb1b	A	T	6: 128,815,282	C189*	probably null	Het
Lrrn2	A	G	1: 132,937,320	Y41C	probably damaging	Het
Lrrn2	T	C	1: 132,937,499	S101P	probably damaging	Het
Mcmdc2	C	T	1: 9,915,610	T127I	probably damaging	Het
Mtch1	C	A	17: 29,347,652	A46S	unknown	Het
Ndufb5	C	A	3: 32,741,757	Q33K	probably null	Het
Nufip2	T	C	11: 77,692,649	V463A	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1062	A	T	2: 86,423,079	V199E	probably damaging	Het
Olfr212	G	A	6: 116,515,821	V15I	probably benign	Het
Olfr457	T	A	6: 42,471,603	I192F	possibly damaging	Het
Olfr486	A	G	7: 108,172,645	I33T	probably benign	Het
Ppip5k1	A	C	2: 121,334,451	S972A	probably benign	Het
Prl8a2	A	T	13: 27,350,999	M86L	probably benign	Het
Prorsd1	T	C	11: 29,513,271	I164V	probably benign	Het
Ptgs1	A	G	2: 36,240,712	T208A	probably damaging	Het
Ptpn3	A	T	4: 57,254,915		probably null	Het
Reln	T	C	5: 21,915,153	R2834G	probably damaging	Het
Shc4	G	T	2: 125,655,669	Y373*	probably null	Het
Skor1	A	T	9: 63,142,242		probably null	Het
Slc9a4	T	C	1: 40,619,089	S591P	probably damaging	Het
Stat2	A	G	10: 128,282,765	E389G	possibly damaging	Het
Trav14n-3	C	A	14: 53,370,547	D111E	probably damaging	Het
Unc5c	A	G	3: 141,827,609	S873G	probably benign	Het
Vmn1r210	T	C	13: 22,827,919	I66V	probably benign	Het
Vmn2r95	T	A	17: 18,451,927	M714K	possibly damaging	Het
Wrb	A	G	16: 96,154,183	T147A	probably benign	Het
Zfp235	A	G	7: 24,140,494	T113A	probably benign	Het
Zranb1	T	G	7: 132,983,911	L696R	probably damaging	Het

Other mutations in Vmn2r117

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Vmn2r117	APN	17	23477840	missense	probably damaging	1.00
IGL00990:Vmn2r117	APN	17	23475429	missense	probably damaging	1.00
IGL00990:Vmn2r117	APN	17	23479546	missense	probably benign
IGL01078:Vmn2r117	APN	17	23477804	missense	probably damaging	1.00
IGL01139:Vmn2r117	APN	17	23477804	missense	probably damaging	1.00
IGL01374:Vmn2r117	APN	17	23478382	missense	possibly damaging	0.46
IGL01779:Vmn2r117	APN	17	23477241	missense	probably benign	0.00
IGL02283:Vmn2r117	APN	17	23475382	missense	probably damaging	0.99
IGL02527:Vmn2r117	APN	17	23477225	missense	possibly damaging	0.65
IGL02612:Vmn2r117	APN	17	23459784	missense	possibly damaging	0.91
IGL02887:Vmn2r117	APN	17	23475578	splice site	probably benign
IGL03167:Vmn2r117	APN	17	23477707	missense	probably damaging	1.00
R0315:Vmn2r117	UTSW	17	23460165	missense	probably benign	0.11
R0610:Vmn2r117	UTSW	17	23475514	missense	probably benign	0.00
R0747:Vmn2r117	UTSW	17	23475503	nonsense	probably null
R1411:Vmn2r117	UTSW	17	23460553	missense	probably damaging	1.00
R1471:Vmn2r117	UTSW	17	23478473	missense	probably benign	0.00
R1853:Vmn2r117	UTSW	17	23477455	missense	probably damaging	0.99
R1925:Vmn2r117	UTSW	17	23478389	missense	probably benign	0.00
R1940:Vmn2r117	UTSW	17	23477480	missense	probably damaging	1.00
R2005:Vmn2r117	UTSW	17	23477644	missense	probably damaging	1.00
R2082:Vmn2r117	UTSW	17	23460256	missense	possibly damaging	0.55
R2698:Vmn2r117	UTSW	17	23459911	missense	probably damaging	0.98
R2972:Vmn2r117	UTSW	17	23459856	missense	probably damaging	1.00
R2973:Vmn2r117	UTSW	17	23459856	missense	probably damaging	1.00
R2974:Vmn2r117	UTSW	17	23459856	missense	probably damaging	1.00
R3160:Vmn2r117	UTSW	17	23460378	missense	probably damaging	1.00
R3161:Vmn2r117	UTSW	17	23460378	missense	probably damaging	1.00
R3162:Vmn2r117	UTSW	17	23460378	missense	probably damaging	1.00
R3847:Vmn2r117	UTSW	17	23460415	missense	probably damaging	0.97
R3848:Vmn2r117	UTSW	17	23460415	missense	probably damaging	0.97
R4082:Vmn2r117	UTSW	17	23460106	missense	probably benign	0.00
R4320:Vmn2r117	UTSW	17	23479513	frame shift	probably null
R4560:Vmn2r117	UTSW	17	23459877	missense	probably damaging	1.00
R4658:Vmn2r117	UTSW	17	23478416	missense	probably benign	0.01
R4881:Vmn2r117	UTSW	17	23477885	missense	probably damaging	1.00
R4908:Vmn2r117	UTSW	17	23459838	missense	probably damaging	1.00
R4910:Vmn2r117	UTSW	17	23479513	frame shift	probably null
R5078:Vmn2r117	UTSW	17	23460148	missense	probably damaging	1.00
R5327:Vmn2r117	UTSW	17	23477874	nonsense	probably null
R5774:Vmn2r117	UTSW	17	23477202	missense	probably damaging	0.98
R6014:Vmn2r117	UTSW	17	23479561	missense	probably damaging	0.97
R6390:Vmn2r117	UTSW	17	23460114	missense	possibly damaging	0.95
R6520:Vmn2r117	UTSW	17	23460219	missense	probably damaging	0.99
R6674:Vmn2r117	UTSW	17	23460049	nonsense	probably null
R6736:Vmn2r117	UTSW	17	23478308	missense	probably damaging	0.99
R6909:Vmn2r117	UTSW	17	23479505	missense	possibly damaging	0.67
R6913:Vmn2r117	UTSW	17	23479563	missense	probably damaging	0.99
R7220:Vmn2r117	UTSW	17	23477203	missense	probably damaging	1.00
R7260:Vmn2r117	UTSW	17	23475385	missense	probably benign	0.06
R7440:Vmn2r117	UTSW	17	23475565	missense	probably benign	0.26
R7443:Vmn2r117	UTSW	17	23460133	missense	probably benign	0.25
R7443:Vmn2r117	UTSW	17	23460345	missense	probably damaging	1.00
R7449:Vmn2r117	UTSW	17	23459895	missense	probably damaging	1.00
R7644:Vmn2r117	UTSW	17	23477291	missense	probably damaging	0.98
R7914:Vmn2r117	UTSW	17	23460126	missense	possibly damaging	0.95
R8001:Vmn2r117	UTSW	17	23479407	missense	possibly damaging	0.89
R8029:Vmn2r117	UTSW	17	23477770	missense	probably benign	0.00
R8340:Vmn2r117	UTSW	17	23460537	missense	probably benign	0.01
R8519:Vmn2r117	UTSW	17	23479468	missense	probably benign
R8723:Vmn2r117	UTSW	17	23477369	missense	probably damaging	1.00
R8914:Vmn2r117	UTSW	17	23460169	missense	probably benign	0.02
R9010:Vmn2r117	UTSW	17	23460471	missense	probably benign	0.10
R9129:Vmn2r117	UTSW	17	23459944	nonsense	probably null
R9464:Vmn2r117	UTSW	17	23477604	missense	probably benign	0.23
R9620:Vmn2r117	UTSW	17	23478476	missense	probably damaging	0.97
V5622:Vmn2r117	UTSW	17	23477840	missense	probably damaging	1.00
V5622:Vmn2r117	UTSW	17	23479505	missense	possibly damaging	0.67
Z1176:Vmn2r117	UTSW	17	23459766	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGACAGAGTTCAATGTCTGGAC -3'
(R):5'- GGTAGGGTTGGTCATCTCAGAC -3'

Sequencing Primer
(F):5'- AACCCAGAAATCTCACTATGGTGTTG -3'
(R):5'- GTTGGTCATCTCAGACAATGATG -3'

Posted On

2022-03-25