Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02028:Vmn2r54'

184257

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: 0.117) question?

Stock #

IGL02028

Quality Score

Status

Chromosome

Chromosomal Location

12615233-12636134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12632161 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 282 (F282Y)

Ref Sequence

ENSEMBL: ENSMUSP00000083386 (fasta)

Gene Model

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

AlphaFold

A0A3B2W422

Predicted Effect

probably damaging
Transcript: ENSMUST00000086210
AA Change: F282Y

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

SMART Domains

Protein: ENSMUSP00000083386
Gene: ENSMUSG00000096593
AA Change: F282Y

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,434,283	Y53C	probably damaging	Het
Acacb	T	A	5: 114,166,015	D166E	probably damaging	Het
Akap8l	T	C	17: 32,338,521		probably null	Het
Arl6ip5	A	G	6: 97,229,650	Y97C	probably damaging	Het
Atad5	T	A	11: 80,134,110	S1772R	probably benign	Het
Ccdc106	A	G	7: 5,059,646	Q155R	probably damaging	Het
Ccdc33	T	C	9: 58,076,578	N446S	probably benign	Het
Cd3eap	T	C	7: 19,357,078	K368R	probably damaging	Het
Cdh2	T	C	18: 16,650,420	D84G	probably benign	Het
Cntn6	A	G	6: 104,859,426	K918E	probably damaging	Het
Dock6	T	C	9: 21,838,826	D521G	probably damaging	Het
Etv6	C	T	6: 134,248,733	A309V	probably benign	Het
Ezh1	G	T	11: 101,199,340	H529Q	probably damaging	Het
Figla	T	C	6: 86,017,363	L40P	probably damaging	Het
Gabra4	T	A	5: 71,633,596	Q301L	probably damaging	Het
Glt1d1	G	A	5: 127,706,920	V313M	possibly damaging	Het
Gm28778	T	A	1: 53,317,961	I94K	possibly damaging	Het
Gm4847	T	C	1: 166,642,196	K103E	probably benign	Het
Gne	A	G	4: 44,066,852	S23P	probably damaging	Het
Hipk2	A	G	6: 38,818,756	C186R	possibly damaging	Het
Lrp1b	C	T	2: 41,511,452	V283I	probably damaging	Het
Mcm10	A	T	2: 5,008,700	D40E	possibly damaging	Het
Morc2b	T	A	17: 33,137,413	I462F	possibly damaging	Het
Myh1	T	A	11: 67,210,615	I711N	probably damaging	Het
Oit3	A	G	10: 59,438,655	F108L	probably damaging	Het
Olfr1289	T	C	2: 111,483,471	F14L	probably benign	Het
Olfr913	T	A	9: 38,594,419	L66*	probably null	Het
Rbm19	A	G	5: 120,120,236	D172G	probably damaging	Het
Ribc2	A	G	15: 85,143,335	D339G	possibly damaging	Het
Rras2	C	A	7: 114,060,362	V56L	probably benign	Het
Scn2a	A	G	2: 65,763,658	E1617G	probably damaging	Het
Slc13a1	T	A	6: 24,118,031	M236L	probably benign	Het
Snrnp27	C	T	6: 86,682,973	R13H	unknown	Het
Srgap2	T	C	1: 131,296,435	K92E	probably damaging	Het
Suco	T	C	1: 161,856,859	K231E	possibly damaging	Het
Tll2	C	A	19: 41,098,649	E588*	probably null	Het
Tmem215	A	T	4: 40,473,940	I6L	possibly damaging	Het
Tnc	A	C	4: 63,966,672		probably benign	Het
Tob1	G	A	11: 94,214,226	G196D	probably benign	Het
Ubtfl1	T	A	9: 18,409,553	Y126N	possibly damaging	Het
Uck1	G	T	2: 32,258,137	Q192K	probably damaging	Het
Vdac3-ps1	A	G	13: 18,030,884		noncoding transcript	Het
Vmn1r88	C	T	7: 13,177,792	S25L	probably benign	Het
Vmn2r109	T	G	17: 20,541,080	I672L	probably benign	Het
Vmn2r23	T	C	6: 123,741,860	F724S	probably damaging	Het
Vmn2r82	A	T	10: 79,379,223	I347F	probably benign	Het
Wasf2	G	A	4: 133,195,801	R474H	probably damaging	Het
Wdr60	C	A	12: 116,256,061	R87L	probably benign	Het
Zmym5	T	C	14: 56,804,160	H162R	possibly damaging	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
IGL02064:Vmn2r54	APN	7	12615606	missense	probably benign	0.02
IGL02238:Vmn2r54	APN	7	12635983	missense	probably damaging	1.00
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

2014-05-07