Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03293:Vmn2r53'

415962

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: 0.121) question?

Stock #

IGL03293

Quality Score

Status

Chromosome

Chromosomal Location

12581470-12606544 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12598422 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 433 (S433R)

Ref Sequence

ENSEMBL: ENSMUSP00000126979 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118665

Predicted Effect

probably benign
Transcript: ENSMUST00000170412
AA Change: S433R

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126979
Gene: ENSMUSG00000096002
AA Change: S433R

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	A	G	10: 3,125,699		noncoding transcript	Het
A830018L16Rik	T	A	1: 11,545,151		probably null	Het
Akr1c14	C	T	13: 4,079,130	R45*	probably null	Het
Ccdc62	T	A	5: 123,951,225	L309I	possibly damaging	Het
Ccdc66	T	A	14: 27,490,671	N565I	probably damaging	Het
Cerkl	G	T	2: 79,342,375	A318E	probably damaging	Het
Clec4n	A	T	6: 123,232,146	T57S	probably benign	Het
Cluh	A	G	11: 74,665,752	E921G	probably benign	Het
Cnbd1	C	T	4: 18,860,565	E394K	possibly damaging	Het
Dmgdh	G	T	13: 93,706,701	M348I	probably benign	Het
Dnajc13	G	A	9: 104,174,426	S1744L	possibly damaging	Het
Dspp	A	T	5: 104,177,561	S597C	unknown	Het
Dync1h1	A	T	12: 110,628,734	N1360I	probably benign	Het
Eepd1	A	G	9: 25,603,412	H505R	possibly damaging	Het
Gcnt7	T	C	2: 172,454,383	T174A	possibly damaging	Het
Gnb1	T	C	4: 155,540,547		probably benign	Het
Gpam	A	G	19: 55,071,016	S800P	probably benign	Het
Gsr	T	C	8: 33,694,996		probably benign	Het
Herc2	A	G	7: 56,155,130	K2302R	probably benign	Het
Hipk1	C	A	3: 103,777,259	A347S	possibly damaging	Het
Iqgap2	T	C	13: 95,731,434	N222S	probably damaging	Het
Marco	T	A	1: 120,494,795	M46L	probably benign	Het
Morc2b	A	T	17: 33,138,363	V145D	probably damaging	Het
Mprip	C	A	11: 59,696,163	P54Q	probably damaging	Het
Ndufv2	A	T	17: 66,083,449	C175*	probably null	Het
Olfr1181	T	C	2: 88,423,227	D266G	probably damaging	Het
Olfr272	A	G	4: 52,910,835	*320Q	probably null	Het
Orc3	A	C	4: 34,595,210	I195S	probably damaging	Het
Otos	C	A	1: 92,644,413	E64*	probably null	Het
Plxna2	T	C	1: 194,804,945	S1603P	probably damaging	Het
Rlf	A	T	4: 121,148,330	I1151N	probably benign	Het
Scaper	A	G	9: 55,874,823	V283A	probably benign	Het
Sdccag3	A	T	2: 26,387,676		probably benign	Het
Slc25a43	A	G	X: 36,775,599	T270A	probably benign	Het
Slc35a5	A	G	16: 45,143,781	V78A	probably damaging	Het
Smurf1	A	T	5: 144,881,799	D636E	probably benign	Het
Tchhl1	A	T	3: 93,470,275	E95D	probably damaging	Het
Tcp10a	A	G	17: 7,326,492	E72G	possibly damaging	Het
Tmem232	A	G	17: 65,450,374	S275P	probably damaging	Het
Ugt1a5	T	C	1: 88,166,818	F256S	probably damaging	Het
Vmn2r5	A	G	3: 64,491,326	V744A	probably benign	Het
Vmn2r9	A	T	5: 108,848,131	I217N	probably damaging	Het
Wdr83	G	T	8: 85,080,587	A10E	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
IGL02442:Vmn2r53	APN	7	12581729	missense	probably damaging	1.00
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
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

Posted On

2016-08-02