Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02517:Or8g53'

296809

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 #

IGL02517

Quality Score

Status

Chromosome

Chromosomal Location

39683068-39684094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 39683800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 99 (T99P)

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: T99P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096472
Gene: ENSMUSG00000095903
AA Change: T99P

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: T99P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	T	G	4: 49,380,647 (GRCm39)	M244L	possibly damaging	Het
Acnat2	A	T	4: 49,380,639 (GRCm39)	C228*	probably null	Het
Adam24	T	C	8: 41,133,218 (GRCm39)	S229P	probably damaging	Het
Alpk3	T	C	7: 80,727,643 (GRCm39)	S258P	probably benign	Het
Atad2b	A	G	12: 5,068,037 (GRCm39)	T1012A	probably benign	Het
Bltp1	A	G	3: 37,013,017 (GRCm39)	E1899G	probably damaging	Het
C4b	A	T	17: 34,953,382 (GRCm39)	S1034T	probably benign	Het
Cd300ld2	T	A	11: 114,901,249 (GRCm39)	H277L	possibly damaging	Het
Chrna4	C	T	2: 180,670,926 (GRCm39)	V277I	probably benign	Het
Col3a1	A	G	1: 45,364,963 (GRCm39)		probably null	Het
Dpep2	C	T	8: 106,715,388 (GRCm39)	V369M	probably damaging	Het
Eml2	T	A	7: 18,940,055 (GRCm39)	N815K	probably damaging	Het
Enpp3	A	G	10: 24,685,746 (GRCm39)		probably benign	Het
Git1	T	C	11: 77,390,413 (GRCm39)	V86A	probably benign	Het
Hivep2	C	T	10: 14,006,926 (GRCm39)	P1175S	probably benign	Het
Hydin	T	C	8: 111,293,604 (GRCm39)	I3517T	probably benign	Het
Ift172	T	A	5: 31,410,992 (GRCm39)		probably null	Het
Jmy	A	G	13: 93,589,316 (GRCm39)	I647T	probably benign	Het
Kifap3	T	A	1: 163,653,440 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,670,915 (GRCm39)		probably null	Het
Lipa	A	C	19: 34,471,522 (GRCm39)	I351S	possibly damaging	Het
Ltbp2	G	T	12: 84,832,091 (GRCm39)	A1631D	probably benign	Het
Masp2	A	G	4: 148,698,477 (GRCm39)	I519M	probably damaging	Het
Mfsd6	A	G	1: 52,702,436 (GRCm39)		probably benign	Het
Numa1	T	G	7: 101,661,216 (GRCm39)	D1846E	probably benign	Het
Oog3	A	T	4: 143,885,920 (GRCm39)	I226K	probably damaging	Het
Or11h6	A	G	14: 50,880,658 (GRCm39)	T301A	probably benign	Het
Or5an6	A	T	19: 12,372,265 (GRCm39)	I213F	probably benign	Het
Or8b3b	T	C	9: 38,584,209 (GRCm39)	Y177C	probably damaging	Het
Or9s13	A	T	1: 92,548,183 (GRCm39)	Y185F	probably benign	Het
Pkdcc	T	C	17: 83,531,295 (GRCm39)	S435P	probably damaging	Het
Ppm1g	A	G	5: 31,365,425 (GRCm39)	Y70H	probably damaging	Het
Prcc	C	T	3: 87,776,984 (GRCm39)	S330N	probably damaging	Het
Ror2	A	T	13: 53,272,876 (GRCm39)	L251Q	probably damaging	Het
Scn11a	A	G	9: 119,621,464 (GRCm39)	L651P	probably damaging	Het
Skint6	A	T	4: 112,805,737 (GRCm39)		probably benign	Het
Slc23a4	A	G	6: 34,931,917 (GRCm39)	F186L	probably benign	Het
Slc30a8	A	T	15: 52,198,530 (GRCm39)	D325V	probably benign	Het
Son	C	T	16: 91,452,099 (GRCm39)	T282M	possibly damaging	Het
Tas2r118	A	T	6: 23,969,891 (GRCm39)	F57I	probably damaging	Het
Tcf7l1	A	G	6: 72,606,966 (GRCm39)	S447P	probably benign	Het
Thsd1	T	A	8: 22,733,454 (GRCm39)	V167E	probably damaging	Het
Tle3	T	C	9: 61,322,063 (GRCm39)	V696A	probably damaging	Het
Tmem67	A	T	4: 12,069,463 (GRCm39)	I405K	possibly damaging	Het
Tmem71	A	C	15: 66,413,466 (GRCm39)	V202G	probably benign	Het
Trim6	T	C	7: 103,881,564 (GRCm39)		probably benign	Het
Trip12	A	G	1: 84,721,535 (GRCm39)		probably benign	Het
Ubr1	A	C	2: 120,694,854 (GRCm39)	C1693G	possibly damaging	Het
Ush2a	G	A	1: 188,648,195 (GRCm39)	R4600H	probably damaging	Het
Vil1	A	G	1: 74,465,851 (GRCm39)	I547M	probably benign	Het
Vmn1r219	A	T	13: 23,347,266 (GRCm39)	I152L	probably benign	Het
Vmn1r26	A	G	6: 57,986,127 (GRCm39)	F21L	possibly damaging	Het
Vmn2r45	T	A	7: 8,486,185 (GRCm39)	K368*	probably null	Het
Vmn2r68	C	T	7: 84,871,153 (GRCm39)	W710*	probably null	Het
Zfp808	T	A	13: 62,321,032 (GRCm39)	*754R	probably null	Het
Zyg11b	C	T	4: 108,123,515 (GRCm39)	E151K	probably damaging	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
IGL02708:Or8g53	APN	9	39,683,214 (GRCm39)	missense	probably damaging	1.00
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