Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02991:Or8g55'

452930

Institutional Source

Beutler Lab

Gene Symbol

Or8g55

Ensembl Gene

ENSMUSG00000094449

Gene Name

olfactory receptor family 8 subfamily G member 55

Synonyms

GA_x6K02T2PVTD-33572803-33573747, MOR171-17, Olfr972

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39784573-39785517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39785362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 264 (S264T)

Ref Sequence

ENSEMBL: ENSMUSP00000150498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079767] [ENSMUST00000215303] [ENSMUST00000216167]

AlphaFold

Q9EQA2

Predicted Effect

probably benign
Transcript: ENSMUST00000079767
AA Change: S264T

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000078700
Gene: ENSMUSG00000094449
AA Change: S264T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	7.1e-54	PFAM
Pfam:7tm_1	41	290	2.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215303
AA Change: S264T

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000216167
AA Change: S264T

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

95% (73/77)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Adam23	T	C	1: 63,586,978 (GRCm39)		probably null	Het
Aptx	C	A	4: 40,686,687 (GRCm39)	G199C	probably damaging	Het
Asap2	T	C	12: 21,299,294 (GRCm39)		probably benign	Het
Atp11b	A	G	3: 35,881,140 (GRCm39)	T566A	probably benign	Het
Bcas3	C	T	11: 85,348,713 (GRCm39)	Q202*	probably null	Het
Cacna1h	C	A	17: 25,610,286 (GRCm39)	R740L	possibly damaging	Het
Casp8	T	A	1: 58,866,438 (GRCm39)	N146K	probably benign	Het
Ccdc63	T	C	5: 122,246,275 (GRCm39)	M549V	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh20	T	C	1: 104,861,972 (GRCm39)	S51P	probably benign	Het
Chd7	T	C	4: 8,828,398 (GRCm39)	M1113T	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	ACC	AC	1: 139,164,822 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Cxcl11	C	T	5: 92,509,169 (GRCm39)	R28H	probably damaging	Het
Defb40	C	T	8: 19,025,119 (GRCm39)	C29Y	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fen1	A	T	19: 10,178,026 (GRCm39)	D139E	probably benign	Het
Frem3	A	G	8: 81,395,511 (GRCm39)	E1846G	probably damaging	Het
Gria2	T	A	3: 80,615,116 (GRCm39)	K455*	probably null	Het
Hmcn1	A	T	1: 150,614,409 (GRCm39)	N1332K	possibly damaging	Het
Htr5b	C	T	1: 121,455,756 (GRCm39)	V55M	probably benign	Het
Ighv6-5	A	T	12: 114,380,315 (GRCm39)	N86K	probably benign	Het
Il4ra	T	C	7: 125,174,833 (GRCm39)	V347A	possibly damaging	Het
Itih5	A	G	2: 10,256,162 (GRCm39)	E876G	probably benign	Het
Itpkb	A	T	1: 180,155,279 (GRCm39)		probably benign	Het
Lbr	T	C	1: 181,649,117 (GRCm39)	Y334C	probably damaging	Het
Lrfn2	T	C	17: 49,377,732 (GRCm39)	L271P	probably damaging	Het
Lss	T	A	10: 76,379,745 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,132,091 (GRCm39)	V731A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mob3b	T	A	4: 35,083,805 (GRCm39)	Q128L	probably benign	Het
Mog	T	C	17: 37,334,091 (GRCm39)	M1V	probably null	Het
Mrpl4	A	G	9: 20,919,901 (GRCm39)	Y284C	probably damaging	Het
Mtus2	T	G	5: 148,250,310 (GRCm39)	V310G	probably damaging	Het
Mup11	ACAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCA	4: 60,618,275 (GRCm39)		probably benign	Het
Odad4	A	G	11: 100,444,698 (GRCm39)	S285G	probably benign	Het
Or10g9	T	C	9: 39,911,698 (GRCm39)	Y275C	probably damaging	Het
Orc3	T	G	4: 34,593,083 (GRCm39)	Q328P	probably damaging	Het
Otulinl	T	C	15: 27,658,388 (GRCm39)	S211G	possibly damaging	Het
Pcdhb20	G	T	18: 37,639,264 (GRCm39)	G597C	probably damaging	Het
Pdxdc1	A	G	16: 13,675,260 (GRCm39)	I334T	probably damaging	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Proz	G	A	8: 13,123,490 (GRCm39)	E254K	probably benign	Het
Psma6	T	C	12: 55,454,357 (GRCm39)		probably benign	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,776,192 (GRCm39)	V1115A	probably damaging	Het
Sfxn5	G	T	6: 85,266,190 (GRCm39)	N102K	possibly damaging	Het
Sgo2a	G	T	1: 58,054,514 (GRCm39)		probably benign	Het
Slc14a2	A	T	18: 78,249,049 (GRCm39)	M1K	probably null	Het
Spag5	T	A	11: 78,205,077 (GRCm39)	L621M	probably damaging	Het
Spata31	A	G	13: 65,068,533 (GRCm39)	Y227C	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Supt6	T	C	11: 78,116,179 (GRCm39)	E728G	probably damaging	Het
Sympk	T	A	7: 18,764,502 (GRCm39)	L69Q	probably damaging	Het
Timd4	T	A	11: 46,732,974 (GRCm39)		probably benign	Het
Trh	G	A	6: 92,220,719 (GRCm39)	R48W	probably damaging	Het
Trip12	C	A	1: 84,716,536 (GRCm39)	D383Y	probably damaging	Het
Tspo2	T	A	17: 48,757,014 (GRCm39)	I23F	possibly damaging	Het
Tspyl5	A	G	15: 33,686,989 (GRCm39)	S319P	probably damaging	Het
Txlnb	A	G	10: 17,717,201 (GRCm39)	K403E	probably damaging	Het
Vmn2r34	C	A	7: 7,675,720 (GRCm39)	C556F	probably damaging	Het
Vps13c	C	A	9: 67,821,159 (GRCm39)	A1223E	probably damaging	Het

Other mutations in Or8g55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01805:Or8g55	APN	9	39,785,075 (GRCm39)	missense	probably damaging	1.00
IGL02008:Or8g55	APN	9	39,784,781 (GRCm39)	missense	probably damaging	1.00
IGL02556:Or8g55	APN	9	39,784,906 (GRCm39)	missense	possibly damaging	0.73
BB008:Or8g55	UTSW	9	39,785,146 (GRCm39)	missense	possibly damaging	0.86
BB018:Or8g55	UTSW	9	39,785,146 (GRCm39)	missense	possibly damaging	0.86
R0494:Or8g55	UTSW	9	39,784,698 (GRCm39)	missense	probably damaging	1.00
R0725:Or8g55	UTSW	9	39,784,643 (GRCm39)	missense	probably damaging	0.99
R1179:Or8g55	UTSW	9	39,785,371 (GRCm39)	missense	possibly damaging	0.78
R1500:Or8g55	UTSW	9	39,784,707 (GRCm39)	missense	probably benign	0.36
R1796:Or8g55	UTSW	9	39,785,267 (GRCm39)	missense	probably benign	0.12
R1970:Or8g55	UTSW	9	39,785,234 (GRCm39)	missense	probably damaging	1.00
R2018:Or8g55	UTSW	9	39,785,354 (GRCm39)	missense	probably benign	0.35
R4065:Or8g55	UTSW	9	39,784,718 (GRCm39)	missense	possibly damaging	0.86
R5254:Or8g55	UTSW	9	39,784,741 (GRCm39)	missense	possibly damaging	0.94
R5799:Or8g55	UTSW	9	39,785,392 (GRCm39)	missense	possibly damaging	0.78
R6751:Or8g55	UTSW	9	39,784,976 (GRCm39)	missense	probably benign	0.00
R7525:Or8g55	UTSW	9	39,785,435 (GRCm39)	nonsense	probably null
R7570:Or8g55	UTSW	9	39,784,751 (GRCm39)	missense	possibly damaging	0.59
R7803:Or8g55	UTSW	9	39,785,378 (GRCm39)	missense	probably benign	0.23
R7931:Or8g55	UTSW	9	39,785,146 (GRCm39)	missense	possibly damaging	0.86
R8344:Or8g55	UTSW	9	39,785,231 (GRCm39)	missense	probably benign	0.42
R8859:Or8g55	UTSW	9	39,784,894 (GRCm39)	missense	probably benign	0.05
R9404:Or8g55	UTSW	9	39,784,708 (GRCm39)	missense	possibly damaging	0.56
Z1177:Or8g55	UTSW	9	39,784,819 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AGAGTGGATTTCTGTAACGCC -3'
(R):5'- TGTTTGTCAGCCCTCTAAACAAG -3'

Sequencing Primer
(F):5'- GTGATCTTTCCCCACTCCTGAAAC -3'
(R):5'- GTCAGCCCTCTAAACAAGTATCTTAG -3'

Posted On

2017-01-24