Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02121:Or6ae1'

280619

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 #

IGL02121

Quality Score

Status

Chromosome

Chromosomal Location

139741923-139742861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 139742607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 85 (D85E)

Ref Sequence

ENSEMBL: ENSMUSP00000057288 (fasta)

Gene Model

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

AlphaFold

Q8VGL1

Predicted Effect

probably benign
Transcript: ENSMUST00000050585
AA Change: D85E

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000057288
Gene: ENSMUSG00000051180
AA Change: D85E

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	A	T	13: 97,159,038 (GRCm39)	V122D	unknown	Het
4930579F01Rik	T	G	3: 137,870,134 (GRCm39)	Y199S	possibly damaging	Het
Abca6	T	A	11: 110,073,750 (GRCm39)	I1434F	probably benign	Het
Acsm1	T	C	7: 119,257,635 (GRCm39)	V467A	possibly damaging	Het
Alg3	T	C	16: 20,425,285 (GRCm39)	T260A	possibly damaging	Het
Aoc1	A	G	6: 48,883,254 (GRCm39)		probably null	Het
Ap5b1	C	T	19: 5,620,815 (GRCm39)	T745I	possibly damaging	Het
Atp6v1c2	T	G	12: 17,341,441 (GRCm39)	K272Q	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cert1	T	G	13: 96,735,982 (GRCm39)	Y181D	probably benign	Het
Clcn7	C	T	17: 25,372,058 (GRCm39)	A426V	possibly damaging	Het
Clec14a	T	C	12: 58,315,223 (GRCm39)	E133G	probably damaging	Het
Dst	T	A	1: 34,267,738 (GRCm39)	V2720E	probably damaging	Het
Efr3a	C	T	15: 65,742,999 (GRCm39)		probably benign	Het
Fam83g	T	C	11: 61,575,609 (GRCm39)	S84P	probably benign	Het
Gm7251	T	C	13: 49,959,382 (GRCm39)		noncoding transcript	Het
Gnptab	T	G	10: 88,265,323 (GRCm39)	S312A	possibly damaging	Het
Grap2	C	A	15: 80,532,076 (GRCm39)	S230R	possibly damaging	Het
Grm6	T	A	11: 50,750,483 (GRCm39)	C549S	probably damaging	Het
Gtf3c1	A	T	7: 125,245,903 (GRCm39)	L1504*	probably null	Het
Iars1	A	G	13: 49,878,172 (GRCm39)	M899V	probably benign	Het
Il1rl1	T	A	1: 40,481,463 (GRCm39)		probably benign	Het
Kcna4	T	C	2: 107,126,963 (GRCm39)	Y566H	possibly damaging	Het
Kcnn2	T	C	18: 45,694,340 (GRCm39)	I175T	probably damaging	Het
Kcnt1	C	T	2: 25,791,877 (GRCm39)	T609I	probably damaging	Het
Kif3b	A	G	2: 153,159,194 (GRCm39)	R332G	probably damaging	Het
Mansc1	T	C	6: 134,598,800 (GRCm39)	D39G	probably damaging	Het
Med12	T	C	X: 100,331,948 (GRCm39)		probably benign	Het
Mmp1b	G	T	9: 7,384,935 (GRCm39)	T238K	probably benign	Het
Nav3	A	G	10: 109,594,897 (GRCm39)	S1435P	probably damaging	Het
Npc1l1	A	G	11: 6,178,157 (GRCm39)	S418P	probably benign	Het
Or14j1	T	C	17: 38,146,832 (GRCm39)	V314A	probably benign	Het
Or2ab1	T	C	11: 58,488,408 (GRCm39)	V62A	possibly damaging	Het
Or3a1b	A	G	11: 74,012,113 (GRCm39)		probably benign	Het
Or52a24	A	G	7: 103,381,676 (GRCm39)	Y181C	probably damaging	Het
Or52h1	A	C	7: 103,829,432 (GRCm39)	M61R	probably damaging	Het
Or8b3b	T	C	9: 38,584,711 (GRCm39)	T23A	probably damaging	Het
Otoa	A	G	7: 120,721,247 (GRCm39)	T421A	probably benign	Het
Otulin	G	A	15: 27,608,823 (GRCm39)	A42V	probably damaging	Het
Pcdhb1	T	A	18: 37,398,838 (GRCm39)	V263E	probably benign	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Phip	A	T	9: 82,775,423 (GRCm39)	V1053D	probably damaging	Het
Pkd1	G	A	17: 24,794,901 (GRCm39)	R2196H	probably benign	Het
Plin4	T	A	17: 56,409,131 (GRCm39)	Q1363L	probably damaging	Het
Pp2d1	C	A	17: 53,814,949 (GRCm39)	V592L	probably damaging	Het
Pramel51	T	C	12: 88,145,242 (GRCm39)	D28G	possibly damaging	Het
Prkdc	T	G	16: 15,535,048 (GRCm39)	M1649R	probably benign	Het
Ptk2b	T	C	14: 66,450,931 (GRCm39)	K12E	probably benign	Het
Rars2	G	A	4: 34,657,219 (GRCm39)	V522I	probably damaging	Het
Rpgrip1	T	A	14: 52,384,831 (GRCm39)	N646K	possibly damaging	Het
Sars2	A	G	7: 28,451,950 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,384,316 (GRCm39)	T227A	possibly damaging	Het
Smc1b	T	C	15: 84,982,186 (GRCm39)	T703A	probably benign	Het
Stk32a	G	T	18: 43,446,572 (GRCm39)	D341Y	probably benign	Het
Thap11	T	C	8: 106,582,546 (GRCm39)	V185A	possibly damaging	Het
Ttll10	C	A	4: 156,132,890 (GRCm39)	V65F	probably benign	Het
Ube2q1	T	A	3: 89,687,769 (GRCm39)	N111K	possibly damaging	Het
Upf2	C	A	2: 6,031,134 (GRCm39)		probably benign	Het
Utp25	A	T	1: 192,800,586 (GRCm39)	D411E	probably benign	Het
Vasp	T	A	7: 18,991,637 (GRCm39)		probably benign	Het
Vmn2r104	C	T	17: 20,262,056 (GRCm39)	W358*	probably null	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Wdfy3	C	T	5: 102,046,376 (GRCm39)	G1826R	possibly damaging	Het
Wdr7	T	A	18: 63,910,616 (GRCm39)	Y669*	probably null	Het
Wdr72	T	A	9: 74,189,011 (GRCm39)		probably benign	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
IGL02399:Or6ae1	APN	7	139,742,513 (GRCm39)	missense	probably benign
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