Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02238:Vmn2r54'

285974

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r54

Ensembl Gene

ENSMUSG00000096593

Gene Name

vomeronasal 2, receptor 54

Synonyms

EG666085, Gm470, LOC232871, LOC385080

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL02238

Quality Score

Status

Chromosome

Chromosomal Location

12615233-12636134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12635983 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 51 (L51P)

Ref Sequence

ENSEMBL: ENSMUSP00000083386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086210]

AlphaFold

A0A3B2W422

Predicted Effect

probably damaging
Transcript: ENSMUST00000086210
AA Change: L51P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: L51P

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	5	397	4.3e-58	PFAM
Pfam:NCD3G	442	495	2.2e-19	PFAM
Pfam:7tm_3	526	763	1.2e-54	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 120,396,606	I1322N	probably benign	Het
Adamts1	A	T	16: 85,795,825	M565K	probably benign	Het
Akr1b7	T	A	6: 34,415,398	Y49N	probably damaging	Het
Cacna2d2	T	A	9: 107,513,558	V363E	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdh10	C	T	15: 19,013,519	T735I	probably damaging	Het
Cds1	T	A	5: 101,814,436	C306S	possibly damaging	Het
Clasp2	T	C	9: 113,880,020	C644R	probably damaging	Het
Coil	T	C	11: 88,981,754	S314P	probably benign	Het
D630045J12Rik	T	A	6: 38,196,394	M280L	probably benign	Het
Dmxl2	C	T	9: 54,445,433	V795M	probably damaging	Het
Dock10	A	G	1: 80,533,793	V1533A	probably damaging	Het
Fbxo40	T	C	16: 36,969,174	N525D	possibly damaging	Het
Fezf2	T	C	14: 12,344,494	E231G	probably damaging	Het
Fmn1	T	C	2: 113,582,125	V870A	possibly damaging	Het
Ifi44	A	G	3: 151,732,382	*423Q	probably null	Het
Invs	T	C	4: 48,390,029	V173A	probably damaging	Het
Krt88	A	G	15: 101,452,605		probably benign	Het
Mctp2	A	T	7: 72,090,205	Y812*	probably null	Het
Neto2	T	C	8: 85,669,663	I118V	probably damaging	Het
Nutm2	T	G	13: 50,471,039	M264R	probably damaging	Het
Olfr52	T	C	2: 86,181,595		probably null	Het
Olfr715	A	G	7: 107,129,037	S119P	probably damaging	Het
Pcnx	G	A	12: 81,917,914	R285Q	probably damaging	Het
Pi16	G	T	17: 29,326,295	K177N	probably damaging	Het
Pigg	C	T	5: 108,318,928	S225F	possibly damaging	Het
Prrc2b	T	A	2: 32,213,417	V969E	probably damaging	Het
Rab4b	A	C	7: 27,172,729	Y189D	probably benign	Het
Ran	A	G	5: 129,022,182	N143D	possibly damaging	Het
Rfc4	A	T	16: 23,114,469	F286L	probably damaging	Het
Sel1l2	T	C	2: 140,247,939	Y418C	probably damaging	Het
Slc13a1	T	C	6: 24,103,483	I354V	probably benign	Het
Slc7a2	A	T	8: 40,908,156	T386S	probably benign	Het
Tm2d2	G	T	8: 25,022,771	V212F	probably benign	Het
Tmem247	A	T	17: 86,918,293	N54Y	probably damaging	Het
Txnrd3	T	A	6: 89,656,135	Y206N	probably benign	Het
Uba5	T	C	9: 104,054,060		probably benign	Het
Wdr66	T	C	5: 123,302,423	Y1091H	probably damaging	Het
Zfp735	A	G	11: 73,710,493	K88E	probably benign	Het

Other mutations in Vmn2r54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Vmn2r54	APN	7	12631913	splice site	probably benign
IGL01778:Vmn2r54	APN	7	12632082	missense	probably benign	0.07
IGL01998:Vmn2r54	APN	7	12615300	missense	probably benign
IGL02028:Vmn2r54	APN	7	12632161	missense	probably damaging	1.00
IGL02064:Vmn2r54	APN	7	12615606	missense	probably benign	0.02
IGL03062:Vmn2r54	APN	7	12632428	missense	probably damaging	0.98
IGL03120:Vmn2r54	APN	7	12615387	missense	probably damaging	1.00
PIT4453001:Vmn2r54	UTSW	7	12629742	missense	probably benign	0.06
R0212:Vmn2r54	UTSW	7	12632497	missense	probably benign
R0360:Vmn2r54	UTSW	7	12615649	missense	probably damaging	1.00
R1646:Vmn2r54	UTSW	7	12632507	missense	probably damaging	1.00
R1673:Vmn2r54	UTSW	7	12616211	critical splice acceptor site	probably null
R1738:Vmn2r54	UTSW	7	12635888	missense	probably benign	0.00
R1856:Vmn2r54	UTSW	7	12632311	missense	probably benign
R2012:Vmn2r54	UTSW	7	12615877	missense	probably damaging	1.00
R2038:Vmn2r54	UTSW	7	12629710	missense	possibly damaging	0.94
R2160:Vmn2r54	UTSW	7	12615493	missense	probably benign	0.29
R2397:Vmn2r54	UTSW	7	12615651	missense	probably damaging	0.98
R2430:Vmn2r54	UTSW	7	12632006	missense	probably damaging	0.99
R2829:Vmn2r54	UTSW	7	12615690	missense	possibly damaging	0.62
R2975:Vmn2r54	UTSW	7	12635992	missense	possibly damaging	0.92
R3005:Vmn2r54	UTSW	7	12615294	missense	probably benign	0.28
R3725:Vmn2r54	UTSW	7	12632296	missense	probably benign	0.42
R4486:Vmn2r54	UTSW	7	12632272	nonsense	probably null
R4881:Vmn2r54	UTSW	7	12629671	missense	probably benign	0.00
R4907:Vmn2r54	UTSW	7	12616223	splice site	probably null
R5536:Vmn2r54	UTSW	7	12632416	missense	probably benign	0.03
R5637:Vmn2r54	UTSW	7	12615369	missense	probably benign	0.41
R5703:Vmn2r54	UTSW	7	12629667	missense	probably benign	0.22
R5769:Vmn2r54	UTSW	7	12615282	missense	possibly damaging	0.73
R5972:Vmn2r54	UTSW	7	12615352	missense	probably damaging	1.00
R5972:Vmn2r54	UTSW	7	12635947	missense	probably damaging	1.00
R5977:Vmn2r54	UTSW	7	12632216	missense	probably damaging	1.00
R6084:Vmn2r54	UTSW	7	12632278	missense	probably damaging	0.98
R6176:Vmn2r54	UTSW	7	12615981	missense	probably damaging	1.00
R6229:Vmn2r54	UTSW	7	12631956	missense	probably benign	0.00
R6371:Vmn2r54	UTSW	7	12615435	missense	probably damaging	1.00
R6374:Vmn2r54	UTSW	7	12615493	missense	probably damaging	1.00
R6804:Vmn2r54	UTSW	7	12629865	missense	probably benign
R6886:Vmn2r54	UTSW	7	12632153	missense	probably benign	0.02
R7041:Vmn2r54	UTSW	7	12629824	missense	probably damaging	0.99
R7058:Vmn2r54	UTSW	7	12615795	missense	possibly damaging	0.70
R7113:Vmn2r54	UTSW	7	12616074	missense	probably damaging	1.00
R7124:Vmn2r54	UTSW	7	12622151	missense	probably benign	0.00
R7126:Vmn2r54	UTSW	7	12632161	missense	possibly damaging	0.91
R7236:Vmn2r54	UTSW	7	12631990	missense	possibly damaging	0.84
R7337:Vmn2r54	UTSW	7	12622117	missense	probably benign	0.00
R7406:Vmn2r54	UTSW	7	12616223	splice site	probably null
R7634:Vmn2r54	UTSW	7	12615703	missense	probably damaging	1.00
R7793:Vmn2r54	UTSW	7	12632269	missense	probably damaging	0.98
R8139:Vmn2r54	UTSW	7	12615816	missense	possibly damaging	0.92
R8158:Vmn2r54	UTSW	7	12615961	missense	probably damaging	1.00
R8179:Vmn2r54	UTSW	7	12632091	nonsense	probably null
R8440:Vmn2r54	UTSW	7	12616086	missense	possibly damaging	0.72
R8712:Vmn2r54	UTSW	7	12635950	missense	probably benign	0.22
R8853:Vmn2r54	UTSW	7	12615855	missense	probably damaging	1.00
R8859:Vmn2r54	UTSW	7	12629775	missense	possibly damaging	0.70
R9146:Vmn2r54	UTSW	7	12632720	missense	probably benign	0.05
R9157:Vmn2r54	UTSW	7	12632128	missense	possibly damaging	0.93
R9344:Vmn2r54	UTSW	7	12632356	missense	probably benign
R9423:Vmn2r54	UTSW	7	12615514	missense	probably damaging	1.00
R9534:Vmn2r54	UTSW	7	12632166	missense	probably benign	0.03
R9632:Vmn2r54	UTSW	7	12629826	missense	possibly damaging	0.74
R9661:Vmn2r54	UTSW	7	12615239	missense	probably benign
R9710:Vmn2r54	UTSW	7	12629826	missense	possibly damaging	0.74
U24488:Vmn2r54	UTSW	7	12615429	missense	possibly damaging	0.84
X0066:Vmn2r54	UTSW	7	12615370	missense	probably damaging	1.00
Z1177:Vmn2r54	UTSW	7	12632108	nonsense	probably null

Posted On

2015-04-16