Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02215:Vmn2r52'

284824

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r52

Ensembl Gene

ENSMUSG00000091930

Gene Name

vomeronasal 2, receptor 52

Synonyms

EG384534

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL02215

Quality Score

Status

Chromosome

Chromosomal Location

10158652-10176286 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10171102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 270 (V270A)

Ref Sequence

ENSEMBL: ENSMUSP00000129352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164918]

AlphaFold

L7N2B2

Predicted Effect

probably damaging
Transcript: ENSMUST00000164918
AA Change: V270A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129352
Gene: ENSMUSG00000091930
AA Change: V270A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	469	8.1e-29	PFAM
Pfam:NCD3G	512	565	1.5e-19	PFAM
Pfam:7tm_3	596	833	1.1e-55	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 127,395,573	S378R	probably benign	Het
Abca14	T	A	7: 120,253,389	M859K	probably benign	Het
Adamts13	C	T	2: 26,985,483	P462S	probably damaging	Het
Apol7a	G	T	15: 77,393,490	D19E	possibly damaging	Het
Armc8	T	C	9: 99,483,978	N628D	possibly damaging	Het
Astn2	T	A	4: 66,266,234	I209F	unknown	Het
Atp10b	T	C	11: 43,194,665		probably null	Het
C4b	C	T	17: 34,734,491	C1006Y	probably damaging	Het
Capn13	A	G	17: 73,330,998	L470P	probably damaging	Het
Col4a4	T	C	1: 82,453,809	R1585G	unknown	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Csmd3	C	T	15: 47,585,688	V3637M	probably damaging	Het
Dgki	C	T	6: 37,016,675	D584N	probably damaging	Het
Dmrt2	T	C	19: 25,678,134	S366P	probably damaging	Het
Dmtf1	A	C	5: 9,136,070	L172R	probably damaging	Het
Efhc2	A	G	X: 17,230,578	F177L	probably damaging	Het
Enpep	T	A	3: 129,270,277		probably benign	Het
Enpp6	A	T	8: 47,065,932	D245V	probably damaging	Het
Fam199x	T	A	X: 137,062,650		probably benign	Het
Fkbp4	A	T	6: 128,434,470		probably benign	Het
Gas7	A	G	11: 67,643,332	H86R	probably benign	Het
Gcc2	A	G	10: 58,271,636	N862S	probably benign	Het
Gstm7	T	C	3: 107,930,278	D115G	possibly damaging	Het
Gtse1	C	A	15: 85,862,598	P205Q	possibly damaging	Het
Herc4	G	A	10: 63,273,566	M193I	probably benign	Het
Hist1h2ba	A	T	13: 23,934,110	F16Y	probably benign	Het
Igfl3	T	A	7: 18,179,838	C38S	possibly damaging	Het
Il18rap	G	A	1: 40,547,922	D455N	probably damaging	Het
Ints8	A	G	4: 11,209,244	I932T	probably damaging	Het
Itgbl1	A	C	14: 123,972,141	I311L	probably benign	Het
Jmjd1c	A	T	10: 67,220,322	H794L	probably damaging	Het
Kif1a	A	G	1: 93,020,549	S1542P	probably benign	Het
Klc3	T	A	7: 19,395,825	N373I	probably damaging	Het
Lcn2	T	C	2: 32,384,865	*201W	probably null	Het
Ldhb	A	T	6: 142,495,566		probably null	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Npat	T	A	9: 53,559,117	S348T	probably benign	Het
Pclo	A	T	5: 14,856,985	D5001V	unknown	Het
Peg3	C	A	7: 6,709,011	A1071S	probably benign	Het
Piwil2	A	T	14: 70,391,373	D731E	possibly damaging	Het
Prss41	T	A	17: 23,843,856	D35V	probably benign	Het
Ptprz1	T	A	6: 22,965,182	D159E	possibly damaging	Het
Rabep1	C	T	11: 70,923,197	Q571*	probably null	Het
Scn8a	A	G	15: 101,029,572		probably null	Het
Sipa1l2	G	A	8: 125,447,837	T1234I	possibly damaging	Het
Slc5a10	T	A	11: 61,673,912	M414L	probably benign	Het
Smg5	T	C	3: 88,352,998	S632P	possibly damaging	Het
Smim15	A	G	13: 108,047,514	D18G	probably benign	Het
Sorl1	T	A	9: 42,018,182	I1132F	probably damaging	Het
Spatc1	T	C	15: 76,283,539		probably benign	Het
Sytl2	A	T	7: 90,381,214		probably benign	Het
Tesc	A	G	5: 118,061,618	D195G	probably damaging	Het
Tmem39b	T	A	4: 129,692,518		probably null	Het
Wdr3	C	A	3: 100,146,700		probably null	Het

Other mutations in Vmn2r52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Vmn2r52	APN	7	10169096	missense	probably benign	0.30
IGL00328:Vmn2r52	APN	7	10171417	missense	probably benign	0.12
IGL00980:Vmn2r52	APN	7	10171090	missense	probably damaging	1.00
IGL01468:Vmn2r52	APN	7	10158941	missense	probably damaging	1.00
IGL01660:Vmn2r52	APN	7	10159180	missense	probably damaging	0.97
IGL03030:Vmn2r52	APN	7	10158872	missense	probably benign	0.12
IGL03212:Vmn2r52	APN	7	10159547	missense	possibly damaging	0.47
FR4589:Vmn2r52	UTSW	7	10159020	missense	probably damaging	0.97
PIT4283001:Vmn2r52	UTSW	7	10170829	missense	possibly damaging	0.89
R0184:Vmn2r52	UTSW	7	10159338	missense	probably damaging	1.00
R0190:Vmn2r52	UTSW	7	10171388	missense	probably benign	0.00
R0240:Vmn2r52	UTSW	7	10159400	missense	probably damaging	0.99
R0240:Vmn2r52	UTSW	7	10159400	missense	probably damaging	0.99
R0257:Vmn2r52	UTSW	7	10171055	nonsense	probably null
R0310:Vmn2r52	UTSW	7	10159466	missense	probably damaging	1.00
R1831:Vmn2r52	UTSW	7	10159488	missense	probably damaging	1.00
R1862:Vmn2r52	UTSW	7	10173406	missense	possibly damaging	0.94
R2484:Vmn2r52	UTSW	7	10169131	missense	probably damaging	0.96
R2510:Vmn2r52	UTSW	7	10170868	missense	probably benign
R3625:Vmn2r52	UTSW	7	10159178	missense	probably damaging	1.00
R3803:Vmn2r52	UTSW	7	10173512	missense	probably damaging	1.00
R4013:Vmn2r52	UTSW	7	10170676	missense	probably benign	0.00
R4283:Vmn2r52	UTSW	7	10170638	missense	possibly damaging	0.60
R4324:Vmn2r52	UTSW	7	10171013	missense	possibly damaging	0.94
R4578:Vmn2r52	UTSW	7	10170690	missense	probably damaging	1.00
R4806:Vmn2r52	UTSW	7	10159242	missense	probably damaging	1.00
R5083:Vmn2r52	UTSW	7	10159465	nonsense	probably null
R5249:Vmn2r52	UTSW	7	10176270	missense	probably benign
R5306:Vmn2r52	UTSW	7	10170745	missense	possibly damaging	0.88
R5332:Vmn2r52	UTSW	7	10169125	missense	probably benign	0.17
R5617:Vmn2r52	UTSW	7	10170934	missense	probably damaging	0.99
R5643:Vmn2r52	UTSW	7	10171132	missense	probably damaging	1.00
R5749:Vmn2r52	UTSW	7	10159032	missense	probably damaging	1.00
R5763:Vmn2r52	UTSW	7	10171304	missense	probably benign	0.01
R6103:Vmn2r52	UTSW	7	10171400	missense	probably benign	0.36
R6148:Vmn2r52	UTSW	7	10171163	missense	probably benign	0.00
R6356:Vmn2r52	UTSW	7	10168999	missense	probably benign	0.01
R6412:Vmn2r52	UTSW	7	10171009	missense	probably benign
R6657:Vmn2r52	UTSW	7	10159163	missense	probably damaging	0.99
R6997:Vmn2r52	UTSW	7	10169071	missense	probably benign	0.06
R7395:Vmn2r52	UTSW	7	10170817	missense	probably benign	0.00
R7621:Vmn2r52	UTSW	7	10173347	missense	probably benign	0.00
R7691:Vmn2r52	UTSW	7	10159182	missense	probably damaging	0.97
R7852:Vmn2r52	UTSW	7	10158968	missense	probably damaging	1.00
R7908:Vmn2r52	UTSW	7	10162950	missense	probably benign
R7909:Vmn2r52	UTSW	7	10162950	missense	probably benign
R7912:Vmn2r52	UTSW	7	10162950	missense	probably benign
R7913:Vmn2r52	UTSW	7	10162950	missense	probably benign
R7938:Vmn2r52	UTSW	7	10159373	missense	probably benign	0.12
R8884:Vmn2r52	UTSW	7	10158807	missense	probably damaging	1.00
R9003:Vmn2r52	UTSW	7	10171254	missense	probably benign	0.07
R9140:Vmn2r52	UTSW	7	10158716	missense	probably damaging	0.99
R9141:Vmn2r52	UTSW	7	10171404	nonsense	probably null
R9500:Vmn2r52	UTSW	7	10171354	missense	probably damaging	1.00
R9562:Vmn2r52	UTSW	7	10159549	missense	probably benign	0.22
R9564:Vmn2r52	UTSW	7	10171255	missense	probably benign	0.15
R9565:Vmn2r52	UTSW	7	10159549	missense	probably benign	0.22
R9597:Vmn2r52	UTSW	7	10170792	nonsense	probably null
R9743:Vmn2r52	UTSW	7	10170679	missense	possibly damaging	0.81
Z1176:Vmn2r52	UTSW	7	10171200	missense	probably damaging	0.97
Z1177:Vmn2r52	UTSW	7	10169190	missense	possibly damaging	0.93

Posted On

2015-04-16