Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02399:Or6ae1'

291822

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or6ae1

Ensembl Gene

ENSMUSG00000051180

Gene Name

olfactory receptor family 6 subfamily AE member 1

Synonyms

Olfr522, GA_x6K02T2PBJ9-42315125-42314187, MOR103-5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL02399

Quality Score

Status

Chromosome

Chromosomal Location

139741923-139742861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139742513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 117 (S117T)

Ref Sequence

ENSEMBL: ENSMUSP00000057288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050585]

AlphaFold

Q8VGL1

Predicted Effect

probably benign
Transcript: ENSMUST00000050585
AA Change: S117T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057288
Gene: ENSMUSG00000051180
AA Change: S117T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	1.7e-54	PFAM
Pfam:7tm_1	42	291	1.2e-21	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	C	T	2: 150,700,413 (GRCm39)		probably benign	Het
Adarb1	G	A	10: 77,131,588 (GRCm39)	P624S	probably benign	Het
Afg3l2	A	T	18: 67,562,110 (GRCm39)	F322I	possibly damaging	Het
Arhgap23	A	G	11: 97,381,831 (GRCm39)		probably benign	Het
Atp13a1	A	G	8: 70,259,751 (GRCm39)	N1114S	probably damaging	Het
C3ar1	T	C	6: 122,826,838 (GRCm39)	N460D	probably benign	Het
Cacna1e	A	G	1: 154,279,493 (GRCm39)	Y1988H	probably damaging	Het
Calr	T	C	8: 85,569,415 (GRCm39)		probably benign	Het
D5Ertd579e	A	G	5: 36,773,529 (GRCm39)	S289P	probably damaging	Het
Erbb4	G	A	1: 68,081,596 (GRCm39)		probably benign	Het
Fam98a	A	G	17: 75,845,936 (GRCm39)		probably benign	Het
Gm3739	A	T	14: 18,505,274 (GRCm39)	D83E	possibly damaging	Het
Gm5420	A	T	10: 21,567,071 (GRCm39)		noncoding transcript	Het
Heatr5b	A	G	17: 79,135,396 (GRCm39)	V245A	probably damaging	Het
Kptn	C	A	7: 15,861,038 (GRCm39)		probably benign	Het
Llgl2	T	C	11: 115,735,661 (GRCm39)	C86R	probably damaging	Het
Lrr1	T	A	12: 69,215,665 (GRCm39)	C12*	probably null	Het
Mcf2	T	C	X: 59,180,812 (GRCm39)	D255G	probably damaging	Het
Med13	A	T	11: 86,174,771 (GRCm39)		probably benign	Het
Mthfd1	C	T	12: 76,364,406 (GRCm39)	T735M	probably damaging	Het
Nlrp2	C	T	7: 5,331,809 (GRCm39)	A196T	probably damaging	Het
Nnmt	T	C	9: 48,514,838 (GRCm39)	I60V	probably damaging	Het
Odad2	G	T	18: 7,285,719 (GRCm39)	Q215K	probably benign	Het
Or4c110	T	A	2: 88,832,507 (GRCm39)	T42S	probably benign	Het
P2rx3	T	C	2: 84,853,571 (GRCm39)	I140V	probably benign	Het
Patj	A	G	4: 98,480,173 (GRCm39)	N1293D	probably damaging	Het
Pitpnm2	G	A	5: 124,278,821 (GRCm39)		probably benign	Het
Ppp1r26	T	G	2: 28,343,292 (GRCm39)	V974G	probably benign	Het
Prrc2b	T	A	2: 32,116,973 (GRCm39)	L1376*	probably null	Het
Rab33a	T	A	X: 47,608,584 (GRCm39)	I36N	probably damaging	Het
Rab3gap1	A	T	1: 127,855,840 (GRCm39)	N493I	possibly damaging	Het
Scara3	C	A	14: 66,170,559 (GRCm39)	G107*	probably null	Het
Siglec1	T	C	2: 130,913,098 (GRCm39)	E1606G	probably benign	Het
Skint9	A	T	4: 112,246,447 (GRCm39)	Y222N	possibly damaging	Het
Slc47a1	A	T	11: 61,253,884 (GRCm39)	I185N	probably damaging	Het
Slc47a2	C	A	11: 61,193,020 (GRCm39)		probably benign	Het
Slc4a2	A	G	5: 24,639,711 (GRCm39)	I506V	probably damaging	Het
Slc9a4	A	C	1: 40,639,942 (GRCm39)	I245L	probably benign	Het
Smarcb1	T	C	10: 75,733,328 (GRCm39)	T357A	probably damaging	Het
Spata31d1d	A	G	13: 59,877,954 (GRCm39)		probably benign	Het
Stox2	T	A	8: 47,639,573 (GRCm39)	I874F	probably damaging	Het
Taar7b	A	T	10: 23,876,050 (GRCm39)	I72F	probably damaging	Het
Tacc2	G	A	7: 130,225,129 (GRCm39)	V605I	probably benign	Het
Tef	T	C	15: 81,699,301 (GRCm39)	L34P	probably damaging	Het
Trak2	A	G	1: 58,949,204 (GRCm39)	V532A	probably benign	Het
Usp13	T	A	3: 32,973,209 (GRCm39)	D795E	probably damaging	Het
Vmn1r32	T	A	6: 66,529,913 (GRCm39)	I288F	probably benign	Het
Vmn1r75	T	C	7: 11,615,093 (GRCm39)	I275T	possibly damaging	Het
Zfp871	A	T	17: 32,993,329 (GRCm39)	F615L	probably benign	Het
Zfp941	G	A	7: 140,392,612 (GRCm39)	T249M	probably benign	Het
Zhx1	T	C	15: 57,917,137 (GRCm39)	I370V	probably damaging	Het

Other mutations in Or6ae1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01806:Or6ae1	APN	7	139,742,841 (GRCm39)	missense	probably benign	0.01
IGL02121:Or6ae1	APN	7	139,742,607 (GRCm39)	missense	probably benign	0.10
IGL02803:Or6ae1	APN	7	139,742,287 (GRCm39)	missense	possibly damaging	0.92
R0446:Or6ae1	UTSW	7	139,742,384 (GRCm39)	missense	probably damaging	1.00
R0538:Or6ae1	UTSW	7	139,742,144 (GRCm39)	missense	probably damaging	1.00
R0707:Or6ae1	UTSW	7	139,742,002 (GRCm39)	missense	probably damaging	1.00
R1466:Or6ae1	UTSW	7	139,742,116 (GRCm39)	missense	probably damaging	1.00
R1466:Or6ae1	UTSW	7	139,742,116 (GRCm39)	missense	probably damaging	1.00
R1584:Or6ae1	UTSW	7	139,742,116 (GRCm39)	missense	probably damaging	1.00
R1893:Or6ae1	UTSW	7	139,742,734 (GRCm39)	missense	probably damaging	1.00
R1895:Or6ae1	UTSW	7	139,742,726 (GRCm39)	missense	possibly damaging	0.82
R2004:Or6ae1	UTSW	7	139,742,729 (GRCm39)	missense	probably damaging	0.98
R2060:Or6ae1	UTSW	7	139,742,737 (GRCm39)	missense	probably damaging	1.00
R2067:Or6ae1	UTSW	7	139,742,822 (GRCm39)	missense	possibly damaging	0.69
R4841:Or6ae1	UTSW	7	139,742,602 (GRCm39)	missense	possibly damaging	0.94
R4842:Or6ae1	UTSW	7	139,742,602 (GRCm39)	missense	possibly damaging	0.94
R4956:Or6ae1	UTSW	7	139,741,993 (GRCm39)	missense	possibly damaging	0.70
R5189:Or6ae1	UTSW	7	139,742,632 (GRCm39)	missense	probably damaging	0.98
R5325:Or6ae1	UTSW	7	139,742,026 (GRCm39)	missense	probably damaging	1.00
R5441:Or6ae1	UTSW	7	139,742,564 (GRCm39)	missense	probably benign	0.36
R5618:Or6ae1	UTSW	7	139,742,185 (GRCm39)	missense	probably damaging	1.00
R6031:Or6ae1	UTSW	7	139,742,722 (GRCm39)	missense	possibly damaging	0.82
R6031:Or6ae1	UTSW	7	139,742,722 (GRCm39)	missense	possibly damaging	0.82
R6609:Or6ae1	UTSW	7	139,742,476 (GRCm39)	missense	probably benign
R7154:Or6ae1	UTSW	7	139,741,997 (GRCm39)	missense	probably benign	0.00
R8370:Or6ae1	UTSW	7	139,742,681 (GRCm39)	missense	probably damaging	0.98
R8765:Or6ae1	UTSW	7	139,742,467 (GRCm39)	missense	probably benign
R9002:Or6ae1	UTSW	7	139,742,198 (GRCm39)	missense	probably damaging	0.99
R9112:Or6ae1	UTSW	7	139,742,660 (GRCm39)	missense
R9431:Or6ae1	UTSW	7	139,741,942 (GRCm39)	missense	probably benign	0.04
R9513:Or6ae1	UTSW	7	139,742,822 (GRCm39)	missense	possibly damaging	0.69
R9563:Or6ae1	UTSW	7	139,742,233 (GRCm39)	missense	probably damaging	1.00
R9641:Or6ae1	UTSW	7	139,742,771 (GRCm39)	missense	probably benign

Posted On

2015-04-16