Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02127:Or4a76'

280907

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4a76

Ensembl Gene

ENSMUSG00000075079

Gene Name

olfactory receptor family 4 subfamily A member 76

Synonyms

Olfr1249, GA_x6K02T2Q125-51072323-51071367, MOR231-16P, Olfr1541-ps1, MOR231-17P, MOR231-25_p, MOR231-16P

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02127

Quality Score

Status

Chromosome

Chromosomal Location

89460284-89461240 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89461098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 48 (I48T)

Ref Sequence

ENSEMBL: ENSMUSP00000149072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099769] [ENSMUST00000216124]

AlphaFold

L7MU51

Predicted Effect

probably damaging
Transcript: ENSMUST00000099769
AA Change: I48T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097357
Gene: ENSMUSG00000075079
AA Change: I48T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	4.9e-47	PFAM
Pfam:7tm_1	39	285	1.1e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216124
AA Change: I48T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,305 (GRCm39)	M661K	probably benign	Het
Arpin	G	A	7: 79,577,941 (GRCm39)	R163W	probably benign	Het
Atm	C	A	9: 53,399,283 (GRCm39)	D1573Y	probably damaging	Het
Avil	A	G	10: 126,847,695 (GRCm39)	N540S	probably benign	Het
Btnl6	T	C	17: 34,733,017 (GRCm39)	Q282R	probably benign	Het
Cacna2d3	T	C	14: 28,785,832 (GRCm39)		probably benign	Het
Cd300ld4	T	C	11: 114,913,545 (GRCm39)	N170S	probably benign	Het
Cgnl1	T	A	9: 71,633,135 (GRCm39)	N72I	probably damaging	Het
Cntnap3	T	C	13: 64,946,878 (GRCm39)		probably benign	Het
Col27a1	A	T	4: 63,143,379 (GRCm39)	T356S	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2c69	G	T	19: 39,839,501 (GRCm39)	T374N	probably damaging	Het
Cyp2d26	T	C	15: 82,675,307 (GRCm39)	E349G	probably benign	Het
Dnah1	T	C	14: 31,026,885 (GRCm39)	E713G	probably benign	Het
Dnah7b	A	T	1: 46,179,035 (GRCm39)	T903S	probably benign	Het
Enthd1	T	C	15: 80,336,943 (GRCm39)	D497G	probably damaging	Het
Grk4	C	T	5: 34,867,530 (GRCm39)	T165I	probably benign	Het
Hmcn1	G	A	1: 150,598,358 (GRCm39)	S1648L	probably benign	Het
Ints11	A	G	4: 155,971,320 (GRCm39)	Y278C	probably damaging	Het
Kcnu1	T	C	8: 26,382,090 (GRCm39)	L480P	probably damaging	Het
Kif5c	G	A	2: 49,591,122 (GRCm39)		probably null	Het
Kifbp	C	T	10: 62,414,128 (GRCm39)	R10H	probably benign	Het
Klhl35	T	C	7: 99,120,888 (GRCm39)		probably benign	Het
Lemd3	A	T	10: 120,761,933 (GRCm39)	D807E	possibly damaging	Het
Lrrc37a	G	A	11: 103,395,365 (GRCm39)	T20I	probably benign	Het
Mab21l1	C	T	3: 55,691,016 (GRCm39)	A201V	probably benign	Het
Mab21l2	T	C	3: 86,454,124 (GRCm39)	D292G	possibly damaging	Het
Map3k21	T	C	8: 126,668,886 (GRCm39)	L824P	probably benign	Het
Myo5a	T	C	9: 75,120,263 (GRCm39)	V1687A	probably benign	Het
Myo5c	G	T	9: 75,208,184 (GRCm39)	W1639C	probably damaging	Het
Nfya	G	T	17: 48,700,283 (GRCm39)		probably benign	Het
Papolg	A	G	11: 23,820,870 (GRCm39)		probably benign	Het
Pcdh8	G	A	14: 80,006,686 (GRCm39)	R626C	probably damaging	Het
Pclo	T	C	5: 14,815,159 (GRCm39)		probably benign	Het
Pogz	T	C	3: 94,782,014 (GRCm39)		probably benign	Het
Polg	G	A	7: 79,107,915 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,377,479 (GRCm39)	V401A	probably damaging	Het
Scn9a	A	T	2: 66,325,170 (GRCm39)	I1317K	probably damaging	Het
St7	T	A	6: 17,844,968 (GRCm39)		probably benign	Het
Tdo2	C	T	3: 81,866,232 (GRCm39)	V344M	probably damaging	Het
Trmt1	T	C	8: 85,424,100 (GRCm39)	V400A	probably damaging	Het
Trrap	A	G	5: 144,753,243 (GRCm39)	N1856S	probably benign	Het
Ube3a	G	A	7: 58,925,789 (GRCm39)	G210D	probably benign	Het
Ubqln5	A	G	7: 103,778,689 (GRCm39)	V45A	probably damaging	Het
Wdpcp	T	A	11: 21,661,958 (GRCm39)	M410K	possibly damaging	Het
Xpa	G	A	4: 46,185,606 (GRCm39)	T124M	probably damaging	Het
Zpbp2	A	G	11: 98,446,367 (GRCm39)	E172G	probably damaging	Het

Other mutations in Or4a76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Or4a76	APN	2	89,460,964 (GRCm39)	nonsense	probably null
IGL02555:Or4a76	APN	2	89,460,547 (GRCm39)	missense	probably damaging	0.99
IGL02645:Or4a76	APN	2	89,460,679 (GRCm39)	missense	probably benign	0.05
IGL03112:Or4a76	APN	2	89,460,678 (GRCm39)	missense	probably benign	0.11
BB008:Or4a76	UTSW	2	89,460,448 (GRCm39)	missense	possibly damaging	0.78
BB018:Or4a76	UTSW	2	89,460,448 (GRCm39)	missense	possibly damaging	0.78
R1460:Or4a76	UTSW	2	89,460,282 (GRCm39)	splice site	probably null
R1496:Or4a76	UTSW	2	89,460,358 (GRCm39)	missense	possibly damaging	0.96
R4634:Or4a76	UTSW	2	89,460,516 (GRCm39)	missense	possibly damaging	0.93
R4635:Or4a76	UTSW	2	89,460,516 (GRCm39)	missense	possibly damaging	0.93
R4636:Or4a76	UTSW	2	89,460,516 (GRCm39)	missense	possibly damaging	0.93
R5668:Or4a76	UTSW	2	89,460,688 (GRCm39)	missense	probably damaging	1.00
R5787:Or4a76	UTSW	2	89,461,018 (GRCm39)	missense	probably benign	0.05
R5888:Or4a76	UTSW	2	89,461,143 (GRCm39)	missense	probably damaging	0.99
R6267:Or4a76	UTSW	2	89,460,975 (GRCm39)	missense	probably damaging	0.98
R6296:Or4a76	UTSW	2	89,460,975 (GRCm39)	missense	probably damaging	0.98
R7324:Or4a76	UTSW	2	89,460,447 (GRCm39)	missense	possibly damaging	0.78
R7421:Or4a76	UTSW	2	89,460,915 (GRCm39)	missense	probably damaging	0.98
R7459:Or4a76	UTSW	2	89,461,012 (GRCm39)	missense	probably damaging	1.00
R7931:Or4a76	UTSW	2	89,460,448 (GRCm39)	missense	possibly damaging	0.78
R8129:Or4a76	UTSW	2	89,460,792 (GRCm39)	missense	probably damaging	1.00
R8239:Or4a76	UTSW	2	89,460,907 (GRCm39)	missense	probably damaging	0.97
R9053:Or4a76	UTSW	2	89,461,161 (GRCm39)	missense	probably benign	0.01
R9339:Or4a76	UTSW	2	89,460,555 (GRCm39)	missense	probably damaging	1.00
R9408:Or4a76	UTSW	2	89,460,388 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16