Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02442:Vmn2r53'

293459

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r53

Ensembl Gene

ENSMUSG00000096002

Gene Name

vomeronasal 2, receptor 53

Synonyms

EG637908

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL02442

Quality Score

Status

Chromosome

Chromosomal Location

12581470-12606544 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12581729 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 721 (V721D)

Ref Sequence

ENSEMBL: ENSMUSP00000126979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170412]

AlphaFold

A0A3B2W4A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000170412
AA Change: V721D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: V721D

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	5	397	3.6e-58	PFAM
Pfam:NCD3G	442	495	2.2e-19	PFAM
Pfam:7tm_3	526	763	3.1e-53	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	T	C	11: 101,990,826	V116A	probably benign	Het
Adap2	A	G	11: 80,177,206	E348G	probably damaging	Het
Ahnak	G	A	19: 9,004,016	G888D	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csde1	T	C	3: 103,054,819	C649R	probably benign	Het
Cym	A	C	3: 107,214,285	D230E	probably damaging	Het
Dnah1	A	T	14: 31,287,878	I1911N	probably damaging	Het
Fam60a	A	T	6: 148,928,507		probably null	Het
Fat1	A	G	8: 44,950,323	H37R	probably benign	Het
Ggt6	T	C	11: 72,436,806	V146A	possibly damaging	Het
Glud1	T	A	14: 34,335,438	L54*	probably null	Het
Grk6	A	G	13: 55,458,937		probably benign	Het
Gsta4	G	A	9: 78,209,165	V219I	probably benign	Het
Gucy1a2	G	A	9: 3,865,385	V620M	probably damaging	Het
Hspe1	T	C	1: 55,089,042		probably benign	Het
Icmt	T	C	4: 152,298,716	V76A	possibly damaging	Het
Ifrd1	A	G	12: 40,216,317		probably benign	Het
Lgals12	T	C	19: 7,606,654		probably benign	Het
Lypla1	T	C	1: 4,832,387		probably benign	Het
Map1b	A	T	13: 99,508,198	W66R	probably damaging	Het
Matn3	T	A	12: 8,967,678	C443*	probably null	Het
Mup8	T	A	4: 60,219,695	R191W	probably damaging	Het
Mycbp2	T	C	14: 103,314,375	K140R	probably benign	Het
Ndfip1	C	T	18: 38,447,736	S66L	probably damaging	Het
Neu1	A	G	17: 34,934,469	I323V	probably benign	Het
Nup205	A	T	6: 35,190,068	T341S	probably benign	Het
Olfr1303	G	A	2: 111,813,991	T245I	probably benign	Het
Olfr1466	T	A	19: 13,342,120	C121S	probably benign	Het
Olfr1469	T	A	19: 13,410,987	N139K	probably benign	Het
Ovch2	T	A	7: 107,796,548	I88F	possibly damaging	Het
Pkd1	T	A	17: 24,565,226	S249T	probably benign	Het
Plekhg3	A	T	12: 76,578,353	Q1324L	probably benign	Het
Ppara	T	A	15: 85,801,143	V431E	probably benign	Het
Prkaa1	T	G	15: 5,176,888	H408Q	probably damaging	Het
Sap25	T	A	5: 137,641,995	N108K	probably benign	Het
Setd5	A	C	6: 113,110,380	I81L	possibly damaging	Het
Sri	T	A	5: 8,062,411	M78K	probably damaging	Het
Tyro3	A	G	2: 119,808,868	N352S	probably benign	Het
Ubr5	T	A	15: 38,037,901	E332V	possibly damaging	Het
Vmn2r19	G	T	6: 123,309,662	V85F	possibly damaging	Het
Vwa5a	A	G	9: 38,734,784	M483V	probably benign	Het
Zfp786	T	A	6: 47,821,367	Q212H	probably benign	Het

Other mutations in Vmn2r53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Vmn2r53	APN	7	12600908	missense	possibly damaging	0.70
IGL01997:Vmn2r53	APN	7	12582446	missense	possibly damaging	0.54
IGL02449:Vmn2r53	APN	7	12582361	missense	probably damaging	1.00
IGL02589:Vmn2r53	APN	7	12581945	missense	possibly damaging	0.93
IGL02986:Vmn2r53	APN	7	12581466	unclassified	probably benign
IGL03064:Vmn2r53	APN	7	12601010	missense	possibly damaging	0.89
IGL03093:Vmn2r53	APN	7	12600864	missense	probably benign	0.03
IGL03244:Vmn2r53	APN	7	12606508	missense	probably damaging	1.00
IGL03252:Vmn2r53	APN	7	12606391	missense	probably damaging	1.00
IGL03264:Vmn2r53	APN	7	12581892	missense	possibly damaging	0.95
IGL03293:Vmn2r53	APN	7	12598422	missense	probably benign	0.34
R0109:Vmn2r53	UTSW	7	12582066	missense	probably damaging	1.00
R0453:Vmn2r53	UTSW	7	12582411	missense	probably damaging	1.00
R0735:Vmn2r53	UTSW	7	12581780	missense	probably benign
R0881:Vmn2r53	UTSW	7	12600932	missense	probably benign	0.01
R0894:Vmn2r53	UTSW	7	12601214	missense	probably benign	0.00
R0973:Vmn2r53	UTSW	7	12601392	missense	probably damaging	1.00
R0973:Vmn2r53	UTSW	7	12601392	missense	probably damaging	1.00
R0974:Vmn2r53	UTSW	7	12601392	missense	probably damaging	1.00
R0990:Vmn2r53	UTSW	7	12581502	missense	probably benign
R1102:Vmn2r53	UTSW	7	12598483	missense	possibly damaging	0.94
R1141:Vmn2r53	UTSW	7	12600746	missense	possibly damaging	0.54
R1263:Vmn2r53	UTSW	7	12581606	missense	probably benign	0.41
R1343:Vmn2r53	UTSW	7	12584774	missense	probably benign	0.08
R1750:Vmn2r53	UTSW	7	12581705	missense	probably damaging	1.00
R1836:Vmn2r53	UTSW	7	12600885	missense	probably damaging	1.00
R2035:Vmn2r53	UTSW	7	12598511	missense	possibly damaging	0.76
R2202:Vmn2r53	UTSW	7	12601439	missense	probably damaging	1.00
R3707:Vmn2r53	UTSW	7	12582054	missense	possibly damaging	0.95
R4372:Vmn2r53	UTSW	7	12581729	missense	probably damaging	0.98
R4615:Vmn2r53	UTSW	7	12582302	missense	probably damaging	1.00
R4655:Vmn2r53	UTSW	7	12582005	missense	possibly damaging	0.83
R4663:Vmn2r53	UTSW	7	12600974	missense	probably benign	0.21
R4708:Vmn2r53	UTSW	7	12601202	missense	probably benign
R4710:Vmn2r53	UTSW	7	12601202	missense	probably benign
R4774:Vmn2r53	UTSW	7	12600765	nonsense	probably null
R4859:Vmn2r53	UTSW	7	12601403	missense	probably damaging	1.00
R5061:Vmn2r53	UTSW	7	12581814	missense	probably benign	0.01
R5561:Vmn2r53	UTSW	7	12601420	missense	probably damaging	1.00
R5729:Vmn2r53	UTSW	7	12600806	missense	probably damaging	1.00
R6004:Vmn2r53	UTSW	7	12582401	missense	probably benign	0.12
R6083:Vmn2r53	UTSW	7	12581881	missense	probably benign
R6312:Vmn2r53	UTSW	7	12598639	critical splice acceptor site	probably null
R6700:Vmn2r53	UTSW	7	12581706	missense	probably damaging	0.96
R6783:Vmn2r53	UTSW	7	12601433	missense	probably damaging	1.00
R6852:Vmn2r53	UTSW	7	12606514	missense	probably damaging	0.99
R6889:Vmn2r53	UTSW	7	12601142	missense	probably benign	0.10
R6940:Vmn2r53	UTSW	7	12582416	missense	probably benign	0.19
R7100:Vmn2r53	UTSW	7	12581586	nonsense	probably null
R7174:Vmn2r53	UTSW	7	12581701	missense	probably benign	0.01
R7213:Vmn2r53	UTSW	7	12601056	missense	probably benign	0.17
R7276:Vmn2r53	UTSW	7	12606432	missense	probably damaging	0.99
R7515:Vmn2r53	UTSW	7	12581919	missense	probably benign	0.05
R7678:Vmn2r53	UTSW	7	12598498	missense	probably benign	0.04
R7714:Vmn2r53	UTSW	7	12606491	missense	probably damaging	1.00
R7843:Vmn2r53	UTSW	7	12582099	missense	probably damaging	1.00
R8208:Vmn2r53	UTSW	7	12601395	missense	probably damaging	1.00
R8211:Vmn2r53	UTSW	7	12581916	missense	probably benign	0.01
R8478:Vmn2r53	UTSW	7	12606354	missense	probably benign	0.01
R8853:Vmn2r53	UTSW	7	12581810	missense	probably damaging	1.00
R8924:Vmn2r53	UTSW	7	12600825	missense	probably benign	0.17
R8963:Vmn2r53	UTSW	7	12581999	missense	probably damaging	1.00
R9042:Vmn2r53	UTSW	7	12581508	missense	probably benign
R9076:Vmn2r53	UTSW	7	12606304	missense	probably damaging	1.00
R9407:Vmn2r53	UTSW	7	12601197	missense	probably damaging	0.99
Z1176:Vmn2r53	UTSW	7	12601304	missense	probably damaging	1.00

Posted On

2015-04-16