Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03057:Or8d1b'

409256

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8d1b

Ensembl Gene

ENSMUSG00000058515

Gene Name

olfactory receptor family 8 subfamily D member 1B

Synonyms

GA_x6K02T2PVTD-32671531-32672457, Olfr933, MOR171-22

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL03057

Quality Score

Status

Chromosome

Chromosomal Location

38886974-38887900 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38887514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 181 (V181F)

Ref Sequence

ENSEMBL: ENSMUSP00000149292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075680] [ENSMUST00000214324] [ENSMUST00000216238] [ENSMUST00000216823]

AlphaFold

Q9EQA0

Predicted Effect

probably benign
Transcript: ENSMUST00000075680
AA Change: V181F

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000075102
Gene: ENSMUSG00000058515
AA Change: V181F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.3e-50	PFAM
Pfam:7tm_1	41	290	3.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214324

Predicted Effect

probably benign
Transcript: ENSMUST00000216238
AA Change: V181F

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000216823

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,488,754 (GRCm39)	A1295V	possibly damaging	Het
Adgre4	T	C	17: 56,106,602 (GRCm39)		probably benign	Het
Atp8b2	A	T	3: 89,851,493 (GRCm39)	Y901N	probably damaging	Het
Bud31	A	G	5: 145,083,378 (GRCm39)	T74A	probably benign	Het
C4b	C	A	17: 34,956,738 (GRCm39)		probably benign	Het
Ccdc92	G	A	5: 124,912,753 (GRCm39)	Q259*	probably null	Het
Ccn4	T	C	15: 66,763,489 (GRCm39)		probably benign	Het
Chfr	C	A	5: 110,291,475 (GRCm39)	Q98K	probably benign	Het
Ciita	T	A	16: 10,338,823 (GRCm39)		probably benign	Het
Cnbd2	A	T	2: 156,209,592 (GRCm39)	I512F	possibly damaging	Het
Cpa2	A	G	6: 30,557,726 (GRCm39)	Y346C	probably damaging	Het
Cpxm1	A	G	2: 130,235,109 (GRCm39)	L570P	probably damaging	Het
Cylc1	G	A	X: 110,166,370 (GRCm39)	G217D	unknown	Het
Dennd2a	T	C	6: 39,485,182 (GRCm39)	I366V	probably damaging	Het
Dis3	A	T	14: 99,327,426 (GRCm39)	M359K	possibly damaging	Het
Dock10	T	C	1: 80,545,088 (GRCm39)	N848S	probably damaging	Het
Dyrk3	C	T	1: 131,056,815 (GRCm39)	V453I	probably benign	Het
Ercc5	A	G	1: 44,206,161 (GRCm39)	E358G	probably damaging	Het
Fam167b	C	A	4: 129,471,960 (GRCm39)	C70F	possibly damaging	Het
Flt1	G	T	5: 147,618,734 (GRCm39)	Y200*	probably null	Het
Garin4	A	T	1: 190,895,141 (GRCm39)	S501T	probably benign	Het
Ggh	T	C	4: 20,065,770 (GRCm39)	V288A	probably benign	Het
Glb1l2	T	C	9: 26,717,586 (GRCm39)		probably benign	Het
Gm28042	A	G	2: 119,862,637 (GRCm39)	Y302C	probably damaging	Het
Gsta2	A	G	9: 78,241,192 (GRCm39)		probably benign	Het
Idh3b	T	A	2: 130,126,321 (GRCm39)	N6I	probably benign	Het
Irs4	A	G	X: 140,505,524 (GRCm39)	S891P	unknown	Het
Kcmf1	G	T	6: 72,820,010 (GRCm39)	R330S	probably benign	Het
Kif26a	G	T	12: 112,142,208 (GRCm39)	E821*	probably null	Het
L3mbtl1	A	G	2: 162,809,303 (GRCm39)	E670G	probably damaging	Het
Met	A	T	6: 17,558,765 (GRCm39)	D1131V	probably damaging	Het
Neo1	T	C	9: 58,785,342 (GRCm39)	E1428G	probably damaging	Het
Odf2	A	G	2: 29,813,657 (GRCm39)		probably benign	Het
Ogfod1	T	A	8: 94,782,766 (GRCm39)	L294H	possibly damaging	Het
Pcdhb20	A	T	18: 37,637,851 (GRCm39)	I126L	possibly damaging	Het
Pcdhb9	A	T	18: 37,534,330 (GRCm39)	Q108L	probably benign	Het
Prdm10	G	T	9: 31,260,481 (GRCm39)	R645L	probably damaging	Het
Psmb11	T	A	14: 54,863,236 (GRCm39)	C151*	probably null	Het
Reep1	T	A	6: 71,784,765 (GRCm39)		probably benign	Het
Reg3a	G	A	6: 78,358,939 (GRCm39)	A46T	possibly damaging	Het
Rnf213	T	A	11: 119,331,913 (GRCm39)	I2374N	probably damaging	Het
Slc17a7	T	C	7: 44,820,363 (GRCm39)	Y273H	probably damaging	Het
Smg6	T	A	11: 74,826,260 (GRCm39)	Y238*	probably null	Het
Sorcs1	T	A	19: 50,248,194 (GRCm39)	K411*	probably null	Het
Spta1	G	T	1: 174,008,624 (GRCm39)	A243S	probably benign	Het
Tas2r135	A	T	6: 42,378,061 (GRCm39)		probably benign	Het
Tbx18	T	C	9: 87,612,882 (GRCm39)	R6G	probably damaging	Het
Timp3	A	G	10: 86,136,815 (GRCm39)	D33G	possibly damaging	Het
Ttf1	A	G	2: 28,961,357 (GRCm39)	K582E	probably damaging	Het
Ubr5	C	A	15: 38,041,150 (GRCm39)		probably benign	Het
Ugt2b1	A	G	5: 87,074,200 (GRCm39)	V53A	possibly damaging	Het
Ush2a	G	T	1: 188,530,035 (GRCm39)	G3275W	probably damaging	Het
Usp19	G	A	9: 108,376,329 (GRCm39)	V1023M	probably benign	Het
Usp26	T	C	X: 50,846,135 (GRCm39)	I47V	possibly damaging	Het
Vapa	A	G	17: 65,901,902 (GRCm39)	V76A	probably damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het
Vps13a	T	C	19: 16,646,058 (GRCm39)	N1993S	probably damaging	Het
Wdr59	G	A	8: 112,202,750 (GRCm39)	R598C	probably damaging	Het

Other mutations in Or8d1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02040:Or8d1b	APN	9	38,887,910 (GRCm39)	unclassified	probably benign
R0225:Or8d1b	UTSW	9	38,887,574 (GRCm39)	missense	probably benign	0.00
R0234:Or8d1b	UTSW	9	38,887,547 (GRCm39)	splice site	probably null
R0234:Or8d1b	UTSW	9	38,887,547 (GRCm39)	splice site	probably null
R1479:Or8d1b	UTSW	9	38,887,058 (GRCm39)	missense	probably benign
R1710:Or8d1b	UTSW	9	38,887,202 (GRCm39)	missense	probably damaging	0.97
R1717:Or8d1b	UTSW	9	38,887,706 (GRCm39)	missense	probably damaging	1.00
R1865:Or8d1b	UTSW	9	38,887,200 (GRCm39)	missense	probably benign	0.01
R2258:Or8d1b	UTSW	9	38,887,296 (GRCm39)	missense	probably benign	0.02
R2259:Or8d1b	UTSW	9	38,887,296 (GRCm39)	missense	probably benign	0.02
R2260:Or8d1b	UTSW	9	38,887,296 (GRCm39)	missense	probably benign	0.02
R4155:Or8d1b	UTSW	9	38,887,451 (GRCm39)	missense	probably damaging	0.99
R4299:Or8d1b	UTSW	9	38,887,055 (GRCm39)	missense	probably damaging	1.00
R4452:Or8d1b	UTSW	9	38,887,382 (GRCm39)	missense	probably benign	0.02
R5379:Or8d1b	UTSW	9	38,887,151 (GRCm39)	missense	possibly damaging	0.81
R6340:Or8d1b	UTSW	9	38,887,062 (GRCm39)	missense	probably damaging	1.00
R6497:Or8d1b	UTSW	9	38,887,490 (GRCm39)	missense	probably benign
R7039:Or8d1b	UTSW	9	38,887,283 (GRCm39)	missense	probably damaging	1.00
R7378:Or8d1b	UTSW	9	38,887,017 (GRCm39)	missense	probably benign
R7453:Or8d1b	UTSW	9	38,887,500 (GRCm39)	missense	probably damaging	1.00
R7732:Or8d1b	UTSW	9	38,887,560 (GRCm39)	missense	probably damaging	1.00
R7762:Or8d1b	UTSW	9	38,887,490 (GRCm39)	missense	probably benign
R9018:Or8d1b	UTSW	9	38,887,687 (GRCm39)	missense	probably benign	0.22
R9062:Or8d1b	UTSW	9	38,887,421 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02