Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02708:Or8g53'

304425

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8g53

Ensembl Gene

ENSMUSG00000095903

Gene Name

olfactory receptor family 8 subfamily G member 53

Synonyms

Olfr968, GA_x6K02T2PVTD-33470347-33469403, MOR171-15

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

IGL02708

Quality Score

Status

Chromosome

Chromosomal Location

39683068-39684094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39683214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 294 (N294S)

Ref Sequence

ENSEMBL: ENSMUSP00000148969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075928] [ENSMUST00000216458]

AlphaFold

Q8VFN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000075928
AA Change: N294S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096472
Gene: ENSMUSG00000095903
AA Change: N294S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1e-51	PFAM
Pfam:7tm_1	41	290	2e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216458
AA Change: N294S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,738,213 (GRCm39)	V1104D	probably damaging	Het
Adgrl2	A	T	3: 148,532,161 (GRCm39)	V1024E	probably damaging	Het
Agbl2	A	G	2: 90,631,686 (GRCm39)	H348R	probably benign	Het
Aifm2	T	C	10: 61,574,354 (GRCm39)		probably benign	Het
Ankrd26	T	C	6: 118,495,379 (GRCm39)		probably benign	Het
Avpr1b	A	G	1: 131,528,389 (GRCm39)	D304G	probably damaging	Het
Duox1	A	G	2: 122,156,498 (GRCm39)	D475G	possibly damaging	Het
E2f8	T	C	7: 48,516,982 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,173,211 (GRCm39)	I2501F	probably damaging	Het
Gm4181	A	G	14: 51,870,689 (GRCm39)	C91R	probably benign	Het
Gm5424	T	A	10: 61,907,390 (GRCm39)		noncoding transcript	Het
Gnai3	A	G	3: 108,025,660 (GRCm39)	F140L	probably benign	Het
Htra1	A	T	7: 130,563,765 (GRCm39)	D212V	probably damaging	Het
Irgm2	T	C	11: 58,111,350 (GRCm39)	V347A	probably benign	Het
Itch	A	G	2: 155,015,964 (GRCm39)	T150A	probably benign	Het
Itgb3	A	C	11: 104,528,655 (GRCm39)	I261L	possibly damaging	Het
Kalrn	C	T	16: 34,212,420 (GRCm39)	V31M	probably damaging	Het
Klra7	C	T	6: 130,203,463 (GRCm39)	C181Y	probably damaging	Het
Klrb1	A	G	6: 128,690,548 (GRCm39)	L58S	probably benign	Het
Kndc1	A	G	7: 139,481,097 (GRCm39)	E61G	probably damaging	Het
Krt78	T	A	15: 101,861,842 (GRCm39)	T135S	possibly damaging	Het
Mpdz	A	G	4: 81,202,808 (GRCm39)		probably null	Het
Mphosph6	A	G	8: 118,519,525 (GRCm39)		probably benign	Het
Myo19	T	C	11: 84,790,222 (GRCm39)	S393P	possibly damaging	Het
Or51a5	A	G	7: 102,771,027 (GRCm39)		probably benign	Het
Pkdrej	T	C	15: 85,704,988 (GRCm39)	Y316C	probably damaging	Het
Pkp3	A	T	7: 140,669,681 (GRCm39)		probably benign	Het
Pramel31	T	A	4: 144,089,983 (GRCm39)	L341H	probably damaging	Het
Psmb8	A	G	17: 34,420,217 (GRCm39)	K270E	probably benign	Het
Ptprq	T	C	10: 107,488,561 (GRCm39)	N959D	probably damaging	Het
Rab6b	T	G	9: 103,038,074 (GRCm39)		probably null	Het
Rhobtb3	T	C	13: 76,065,843 (GRCm39)	D180G	probably damaging	Het
Sccpdh	G	A	1: 179,508,074 (GRCm39)	C238Y	probably benign	Het
Srm	C	T	4: 148,677,803 (GRCm39)	S147L	probably benign	Het
Synj1	A	T	16: 90,788,350 (GRCm39)	S173T	probably damaging	Het
Tas1r1	T	C	4: 152,112,797 (GRCm39)	E752G	possibly damaging	Het
Tmem151a	G	T	19: 5,132,875 (GRCm39)	Y110*	probably null	Het
Ttn	A	G	2: 76,556,957 (GRCm39)	V30016A	probably damaging	Het
Txnrd2	A	G	16: 18,287,590 (GRCm39)	E331G	probably benign	Het
Vldlr	T	C	19: 27,215,485 (GRCm39)	C161R	possibly damaging	Het
Vmn1r91	T	A	7: 19,835,415 (GRCm39)	S111R	probably damaging	Het
Vmn2r66	T	A	7: 84,655,796 (GRCm39)	I407F	probably benign	Het
Vps13d	T	C	4: 144,854,850 (GRCm39)	M2258V	probably benign	Het
Ypel1	A	T	16: 16,923,872 (GRCm39)	V59D	probably benign	Het

Other mutations in Or8g53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Or8g53	APN	9	39,683,407 (GRCm39)	missense	possibly damaging	0.78
IGL01109:Or8g53	APN	9	39,683,293 (GRCm39)	missense	probably benign	0.06
IGL01809:Or8g53	APN	9	39,683,990 (GRCm39)	nonsense	probably null
IGL02517:Or8g53	APN	9	39,683,800 (GRCm39)	missense	probably damaging	0.98
IGL03061:Or8g53	APN	9	39,683,458 (GRCm39)	missense	probably benign	0.41
K3955:Or8g53	UTSW	9	39,683,469 (GRCm39)	missense	probably benign	0.00
R1786:Or8g53	UTSW	9	39,683,791 (GRCm39)	missense	probably benign	0.00
R1897:Or8g53	UTSW	9	39,683,361 (GRCm39)	missense	probably damaging	0.99
R2424:Or8g53	UTSW	9	39,683,593 (GRCm39)	missense	probably benign	0.39
R3016:Or8g53	UTSW	9	39,683,979 (GRCm39)	missense	probably benign	0.41
R3862:Or8g53	UTSW	9	39,683,920 (GRCm39)	missense	probably benign	0.39
R5987:Or8g53	UTSW	9	39,683,836 (GRCm39)	missense	probably benign	0.00
R5995:Or8g53	UTSW	9	39,683,988 (GRCm39)	missense	probably benign	0.03
R6184:Or8g53	UTSW	9	39,683,916 (GRCm39)	missense	probably damaging	1.00
R6297:Or8g53	UTSW	9	39,683,522 (GRCm39)	missense	possibly damaging	0.45
R7402:Or8g53	UTSW	9	39,683,260 (GRCm39)	missense	probably benign	0.45
R7650:Or8g53	UTSW	9	39,683,169 (GRCm39)	missense	probably benign	0.01
R8179:Or8g53	UTSW	9	39,683,200 (GRCm39)	missense	probably benign	0.00
R8832:Or8g53	UTSW	9	39,683,886 (GRCm39)	missense	probably damaging	1.00
R8987:Or8g53	UTSW	9	39,683,688 (GRCm39)	missense	probably benign	0.35
R9019:Or8g53	UTSW	9	39,684,038 (GRCm39)	missense	probably benign
R9099:Or8g53	UTSW	9	39,683,514 (GRCm39)	missense
R9185:Or8g53	UTSW	9	39,683,404 (GRCm39)	missense	probably benign	0.21
X0028:Or8g53	UTSW	9	39,684,090 (GRCm39)	missense	probably benign

Posted On

2015-04-16