Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03089:Or8g54'

418262

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: 0.197) question?

Stock #

IGL03089

Quality Score

Status

Chromosome

Chromosomal Location

39706673-39707608 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39706977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 102 (Y102F)

Ref Sequence

ENSEMBL: ENSMUSP00000149551 (fasta)

Gene Model

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

AlphaFold

Q8VG89

Predicted Effect

probably benign
Transcript: ENSMUST00000074566
AA Change: Y102F

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000074151
Gene: ENSMUSG00000094254
AA Change: Y102F

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 benign
Transcript: ENSMUST00000213266
AA Change: Y102F

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	G	3: 95,584,556 (GRCm39)	S947P	probably damaging	Het
Agl	T	A	3: 116,574,672 (GRCm39)	H709L	probably damaging	Het
Alpi	T	A	1: 87,027,830 (GRCm39)	D250V	probably benign	Het
Anapc4	A	G	5: 53,023,740 (GRCm39)	S735G	probably benign	Het
Ank1	A	T	8: 23,594,848 (GRCm39)	I611L	probably benign	Het
Canx	A	G	11: 50,195,309 (GRCm39)	V253A	possibly damaging	Het
Cbfa2t3	A	T	8: 123,361,873 (GRCm39)	I383N	probably damaging	Het
Ccn3	C	T	15: 54,612,680 (GRCm39)	R230C	possibly damaging	Het
Cdc23	T	C	18: 34,767,513 (GRCm39)	Y519C	probably damaging	Het
Celsr3	T	A	9: 108,703,806 (GRCm39)	N96K	probably benign	Het
Clptm1	A	G	7: 19,371,072 (GRCm39)	Y355H	probably damaging	Het
Col6a5	C	T	9: 105,811,038 (GRCm39)	S827N	unknown	Het
Cyp21a1	G	T	17: 35,022,420 (GRCm39)		probably null	Het
Cyp24a1	T	G	2: 170,327,886 (GRCm39)	H452P	probably damaging	Het
Cyp2c39	T	A	19: 39,552,295 (GRCm39)	H329Q	probably benign	Het
D630003M21Rik	C	T	2: 158,058,664 (GRCm39)	R412Q	probably benign	Het
Dennd1b	G	A	1: 139,029,767 (GRCm39)	R308Q	possibly damaging	Het
Deup1	T	C	9: 15,519,096 (GRCm39)	S137G	possibly damaging	Het
Dmbt1	T	A	7: 130,712,778 (GRCm39)	I1583N	probably damaging	Het
Dvl1	G	A	4: 155,939,609 (GRCm39)	V320M	probably damaging	Het
Elmod3	A	G	6: 72,546,299 (GRCm39)	S254P	probably damaging	Het
Emsy	G	A	7: 98,286,473 (GRCm39)	Q226*	probably null	Het
Ephb6	C	A	6: 41,591,108 (GRCm39)	D88E	probably damaging	Het
Exoc1	A	G	5: 76,690,005 (GRCm39)	M182V	possibly damaging	Het
Fbxw4	T	G	19: 45,580,160 (GRCm39)		probably benign	Het
Fgr	A	G	4: 132,713,577 (GRCm39)	D35G	probably damaging	Het
Gm20547	A	T	17: 35,080,008 (GRCm39)	D366E	probably damaging	Het
Gucy1a1	T	C	3: 82,004,988 (GRCm39)	N599S	probably damaging	Het
Ighg2b	G	A	12: 113,270,298 (GRCm39)	P240L	probably damaging	Het
Jak3	A	G	8: 72,138,727 (GRCm39)	D975G	probably benign	Het
Klhl26	A	T	8: 70,908,283 (GRCm39)	N24K	probably benign	Het
Letm1	T	A	5: 33,918,202 (GRCm39)	E314D	probably damaging	Het
Lin54	A	T	5: 100,598,852 (GRCm39)	F319L	probably damaging	Het
Lrp5	A	T	19: 3,670,314 (GRCm39)		probably null	Het
Lvrn	T	C	18: 47,013,776 (GRCm39)	F486S	probably damaging	Het
Or1e19	T	C	11: 73,316,009 (GRCm39)	T267A	probably benign	Het
Or2h1b	A	G	17: 37,462,534 (GRCm39)	C110R	probably damaging	Het
Or4c113	T	C	2: 88,885,357 (GRCm39)	R138G	probably benign	Het
Or51m1	A	C	7: 103,578,329 (GRCm39)	I100L	probably benign	Het
Pramel24	A	G	4: 143,452,703 (GRCm39)	T45A	probably benign	Het
Sap30bp	T	A	11: 115,848,214 (GRCm39)	M112K	possibly damaging	Het
Sbno1	A	G	5: 124,525,374 (GRCm39)		probably benign	Het
Slc30a5	T	C	13: 100,950,338 (GRCm39)	I307V	probably benign	Het
Trim37	T	A	11: 87,080,963 (GRCm39)	D21E	probably damaging	Het
Usp34	T	C	11: 23,396,958 (GRCm39)	F614S	possibly damaging	Het
Usp39	A	C	6: 72,305,622 (GRCm39)	F387C	probably damaging	Het
Vipas39	C	T	12: 87,300,028 (GRCm39)	C149Y	probably damaging	Het
Vmn2r107	C	A	17: 20,595,974 (GRCm39)	H842Q	probably benign	Het
Vps18	T	A	2: 119,123,658 (GRCm39)	V195E	probably benign	Het
Vsx1	A	G	2: 150,527,510 (GRCm39)		probably benign	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
IGL02108:Or8g54	APN	9	39,706,808 (GRCm39)	missense	probably damaging	0.99
IGL02999:Or8g54	APN	9	39,706,752 (GRCm39)	missense	probably damaging	1.00
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

2016-08-02