Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02108:Or8g54'

280009

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8g54

Ensembl Gene

ENSMUSG00000094254

Gene Name

olfactory receptor family 8 subfamily G member 54

Synonyms

MOR171-7, Olfr969, GA_x6K02T2PVTD-33492981-33493916

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

IGL02108

Quality Score

Status

Chromosome

Chromosomal Location

39706673-39707608 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39706808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 46 (I46F)

Ref Sequence

ENSEMBL: ENSMUSP00000149551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074566] [ENSMUST00000213266]

AlphaFold

Q8VG89

Predicted Effect

probably damaging
Transcript: ENSMUST00000074566
AA Change: I46F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074151
Gene: ENSMUSG00000094254
AA Change: I46F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.2e-50	PFAM
Pfam:7tm_1	41	290	2.7e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213266
AA Change: I46F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	C	8: 56,325,346 (GRCm39)	I369M	probably damaging	Het
Aff1	T	G	5: 103,958,975 (GRCm39)		probably null	Het
Arid1a	G	T	4: 133,407,827 (GRCm39)	P2227T	unknown	Het
Atp12a	A	T	14: 56,621,525 (GRCm39)	D720V	possibly damaging	Het
Auh	T	C	13: 53,043,133 (GRCm39)		probably benign	Het
Bptf	C	A	11: 106,965,814 (GRCm39)	V1012L	probably benign	Het
Cbr1	T	C	16: 93,407,087 (GRCm39)	F268L	probably benign	Het
Ccdc190	A	G	1: 169,761,555 (GRCm39)	D219G	probably damaging	Het
Ccnb1	C	T	13: 100,917,665 (GRCm39)		probably null	Het
Cdh19	G	T	1: 110,817,461 (GRCm39)	S760R	probably benign	Het
Cecr2	G	A	6: 120,739,519 (GRCm39)		probably null	Het
Chid1	A	T	7: 141,112,841 (GRCm39)	M1K	probably null	Het
Dzank1	T	C	2: 144,348,143 (GRCm39)	T208A	probably benign	Het
Ecm2	T	A	13: 49,671,920 (GRCm39)	Y140*	probably null	Het
Enox2	A	G	X: 48,102,393 (GRCm39)	L533S	possibly damaging	Het
Fntb	A	G	12: 76,934,631 (GRCm39)	E167G	possibly damaging	Het
Gpihbp1	T	C	15: 75,469,461 (GRCm39)	V92A	probably benign	Het
Grsf1	C	T	5: 88,813,762 (GRCm39)	R329Q	probably benign	Het
Gtpbp4	T	A	13: 9,035,249 (GRCm39)	D370V	probably benign	Het
H2ac4	T	C	13: 23,935,207 (GRCm39)	V31A	probably benign	Het
Klhl14	T	A	18: 21,690,977 (GRCm39)	Y491F	probably damaging	Het
Lamb3	A	T	1: 193,014,530 (GRCm39)	Q563L	probably damaging	Het
Lcn2	A	T	2: 32,277,617 (GRCm39)	L124Q	probably damaging	Het
Mbl1	T	C	14: 40,875,608 (GRCm39)	S21P	possibly damaging	Het
Myrip	G	A	9: 120,296,631 (GRCm39)		probably null	Het
Nmur2	T	C	11: 55,931,190 (GRCm39)	T174A	probably benign	Het
Odf1	C	A	15: 38,226,623 (GRCm39)	Y174*	probably null	Het
Optn	A	G	2: 5,036,084 (GRCm39)	V466A	possibly damaging	Het
Or5m12	A	T	2: 85,734,494 (GRCm39)	D301E	possibly damaging	Het
Or8b9	T	A	9: 37,766,234 (GRCm39)	V40E	possibly damaging	Het
Pde9a	G	A	17: 31,680,667 (GRCm39)	S316N	probably benign	Het
Phf3	A	T	1: 30,869,032 (GRCm39)	I672K	probably damaging	Het
Pklr	A	T	3: 89,044,710 (GRCm39)	I63F	probably damaging	Het
Plet1	T	C	9: 50,410,387 (GRCm39)		probably benign	Het
Pp2d1	T	A	17: 53,822,433 (GRCm39)	D211V	probably damaging	Het
Ppp6r3	A	T	19: 3,542,494 (GRCm39)	W384R	probably damaging	Het
Prdm11	T	C	2: 92,806,048 (GRCm39)	I301V	probably damaging	Het
Prkar1a	C	T	11: 109,558,351 (GRCm39)	R357C	probably damaging	Het
Ptchd1	T	C	X: 154,356,548 (GRCm39)	T886A	probably damaging	Het
Ptpre	A	T	7: 135,260,831 (GRCm39)	E156V	possibly damaging	Het
Ptprq	T	C	10: 107,482,478 (GRCm39)	T1032A	probably damaging	Het
Rras2	A	G	7: 113,659,623 (GRCm39)	I47T	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Sh3rf3	T	A	10: 58,971,650 (GRCm39)	V826E	probably damaging	Het
Tmem127	T	A	2: 127,099,026 (GRCm39)	S132T	probably damaging	Het
Tnrc6c	C	A	11: 117,612,025 (GRCm39)	P221Q	probably benign	Het
Tstd3	A	T	4: 21,759,366 (GRCm39)		probably benign	Het
Usp46	T	G	5: 74,189,867 (GRCm39)	T55P	probably damaging	Het

Other mutations in Or8g54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01520:Or8g54	APN	9	39,706,674 (GRCm39)	start codon destroyed	probably null	1.00
IGL02999:Or8g54	APN	9	39,706,752 (GRCm39)	missense	probably damaging	1.00
IGL03089:Or8g54	APN	9	39,706,977 (GRCm39)	missense	probably benign	0.18
IGL03107:Or8g54	APN	9	39,707,475 (GRCm39)	missense	probably benign	0.03
R1232:Or8g54	UTSW	9	39,707,264 (GRCm39)	missense	probably benign	0.18
R1682:Or8g54	UTSW	9	39,706,954 (GRCm39)	nonsense	probably null
R1796:Or8g54	UTSW	9	39,707,301 (GRCm39)	missense	possibly damaging	0.82
R2152:Or8g54	UTSW	9	39,706,943 (GRCm39)	missense	probably benign	0.01
R4534:Or8g54	UTSW	9	39,707,296 (GRCm39)	missense	probably benign	0.00
R4941:Or8g54	UTSW	9	39,707,160 (GRCm39)	missense	possibly damaging	0.78
R5239:Or8g54	UTSW	9	39,707,492 (GRCm39)	missense	probably damaging	0.99
R5602:Or8g54	UTSW	9	39,707,490 (GRCm39)	missense	possibly damaging	0.94
R6681:Or8g54	UTSW	9	39,706,710 (GRCm39)	missense	probably benign	0.02
R6819:Or8g54	UTSW	9	39,706,905 (GRCm39)	missense	probably benign	0.00
R7066:Or8g54	UTSW	9	39,707,420 (GRCm39)	missense	probably benign	0.00
R7138:Or8g54	UTSW	9	39,707,086 (GRCm39)	nonsense	probably null
R8995:Or8g54	UTSW	9	39,707,313 (GRCm39)	missense	possibly damaging	0.52
R9446:Or8g54	UTSW	9	39,707,342 (GRCm39)	missense	probably damaging	1.00
Z1176:Or8g54	UTSW	9	39,707,225 (GRCm39)	missense	possibly damaging	0.96

Posted On

2015-04-16