Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03061:Or8g53'

409442

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: 0.172) question?

Stock #

IGL03061

Quality Score

Status

Chromosome

Chromosomal Location

39683068-39684094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39683458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 213 (T213S)

Ref Sequence

ENSEMBL: ENSMUSP00000148969 (fasta)

Gene Model

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

AlphaFold

Q8VFN4

Predicted Effect

probably benign
Transcript: ENSMUST00000075928
AA Change: T213S

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096472
Gene: ENSMUSG00000095903
AA Change: T213S

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 benign
Transcript: ENSMUST00000216458
AA Change: T213S

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

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
Acsl1	T	A	8: 46,961,374 (GRCm39)	N106K	probably damaging	Het
Ak8	T	C	2: 28,632,767 (GRCm39)		probably benign	Het
BC016579	C	T	16: 45,449,849 (GRCm39)	G190S	probably damaging	Het
C4bp	A	G	1: 130,564,454 (GRCm39)	V410A	probably damaging	Het
Cacna2d3	T	C	14: 28,780,388 (GRCm39)	T658A	probably damaging	Het
Cadps2	T	C	6: 23,287,659 (GRCm39)		probably null	Het
Car10	G	T	11: 93,381,351 (GRCm39)	V105F	probably damaging	Het
Car15	C	T	16: 17,653,249 (GRCm39)	C306Y	possibly damaging	Het
Casr	C	T	16: 36,316,250 (GRCm39)	A530T	probably benign	Het
Col5a3	A	G	9: 20,708,868 (GRCm39)		probably null	Het
Creld1	A	G	6: 113,465,058 (GRCm39)	E95G	probably damaging	Het
Dcstamp	T	A	15: 39,623,793 (GRCm39)	D366E	possibly damaging	Het
Dnah11	T	C	12: 117,866,856 (GRCm39)	Y4095C	probably damaging	Het
Eps8l2	A	G	7: 140,937,148 (GRCm39)		probably benign	Het
Gsn	T	C	2: 35,172,471 (GRCm39)		probably benign	Het
Ifi27l2a	T	C	12: 103,401,803 (GRCm39)	V30A	possibly damaging	Het
Ifit1bl2	C	T	19: 34,597,124 (GRCm39)	R164Q	probably benign	Het
Impg2	T	C	16: 56,088,779 (GRCm39)	S1102P	probably damaging	Het
Kif24	G	T	4: 41,394,323 (GRCm39)	P984Q	possibly damaging	Het
Krtap29-1	T	A	11: 99,869,455 (GRCm39)	Q142L	possibly damaging	Het
Lpar6	C	T	14: 73,476,510 (GRCm39)	T157I	probably benign	Het
Lrrc32	A	T	7: 98,148,629 (GRCm39)	T470S	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mroh9	A	T	1: 162,854,071 (GRCm39)	H776Q	probably damaging	Het
Myh7	T	C	14: 55,228,661 (GRCm39)		probably benign	Het
Myh7b	A	G	2: 155,462,031 (GRCm39)	N309S	possibly damaging	Het
Myo5b	A	T	18: 74,767,630 (GRCm39)	T313S	probably benign	Het
Myo5b	G	A	18: 74,713,615 (GRCm39)		probably benign	Het
Npas4	C	T	19: 5,036,365 (GRCm39)	V600M	probably damaging	Het
Nrxn3	T	A	12: 89,478,698 (GRCm39)	Y557*	probably null	Het
Or2aj4	T	C	16: 19,385,463 (GRCm39)	T57A	possibly damaging	Het
Or52k2	A	G	7: 102,253,946 (GRCm39)	I128M	probably damaging	Het
Pcdh15	A	G	10: 74,152,843 (GRCm39)	I383V	probably damaging	Het
Pdzrn3	C	A	6: 101,128,816 (GRCm39)	D617Y	probably damaging	Het
Prodh2	A	T	7: 30,212,258 (GRCm39)	K408*	probably null	Het
Ptprs	T	C	17: 56,725,830 (GRCm39)	I1052V	probably damaging	Het
Rpl14	T	C	9: 120,401,193 (GRCm39)	V12A	probably damaging	Het
Sf3a1	C	T	11: 4,125,493 (GRCm39)	R428C	probably damaging	Het
Sgsm2	G	T	11: 74,741,962 (GRCm39)	N1009K	probably damaging	Het
Slc28a2	A	T	2: 122,284,980 (GRCm39)	I323F	probably damaging	Het
Snx19	T	A	9: 30,344,928 (GRCm39)	F676I	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tg	A	C	15: 66,543,254 (GRCm39)	D56A	probably damaging	Het
Tln1	G	T	4: 43,545,694 (GRCm39)	A928E	probably damaging	Het
Tmem94	T	C	11: 115,683,247 (GRCm39)	S677P	possibly damaging	Het
Ttc41	C	A	10: 86,572,721 (GRCm39)	H698N	possibly damaging	Het
Vcan	T	C	13: 89,851,394 (GRCm39)	T1189A	probably benign	Het
Vmn1r215	G	T	13: 23,260,088 (GRCm39)	V43F	probably damaging	Het
Vmn2r28	A	T	7: 5,487,015 (GRCm39)	N549K	probably damaging	Het
Zfp598	T	C	17: 24,898,566 (GRCm39)	V455A	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
IGL02708:Or8g53	APN	9	39,683,214 (GRCm39)	missense	probably damaging	1.00
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

2016-08-02