Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02146:Or8d1'

281745

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8d1

Ensembl Gene

ENSMUSG00000047667

Gene Name

olfactory receptor family 8 subfamily D member 1

Synonyms

GA_x6K02T2PVTD-32550930-32551856, MOR171-9, MTPCR09, Olfr26

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02146

Quality Score

Status

Chromosome

Chromosomal Location

38766356-38767286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38766654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 99 (A99T)

Ref Sequence

ENSEMBL: ENSMUSP00000100467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104874] [ENSMUST00000217350]

AlphaFold

Q7TRB7

Predicted Effect

probably benign
Transcript: ENSMUST00000104874
AA Change: A99T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000100467
Gene: ENSMUSG00000047667
AA Change: A99T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.8e-49	PFAM
Pfam:7tm_1	41	290	2.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217350

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,164,023 (GRCm39)	C784R	possibly damaging	Het
Akp3	A	T	1: 87,054,297 (GRCm39)	D278V	probably benign	Het
Atxn7l1	G	T	12: 33,418,030 (GRCm39)	R730S	probably benign	Het
Bag6	A	G	17: 35,355,191 (GRCm39)	T30A	probably damaging	Het
Blk	G	T	14: 63,611,648 (GRCm39)	P429H	probably damaging	Het
Bmp2k	T	A	5: 97,212,689 (GRCm39)	M524K	unknown	Het
Bst1	T	A	5: 43,983,678 (GRCm39)	H221Q	probably damaging	Het
Ces2g	T	C	8: 105,693,576 (GRCm39)	I419T	possibly damaging	Het
Cnep1r1	T	C	8: 88,856,326 (GRCm39)	V34A	probably benign	Het
Ctnnbl1	A	G	2: 157,661,414 (GRCm39)	E308G	probably damaging	Het
Cyp20a1	A	T	1: 60,410,410 (GRCm39)	K237I	possibly damaging	Het
Dlg5	T	C	14: 24,252,429 (GRCm39)	T104A	probably damaging	Het
Dnaaf11	C	T	15: 66,361,374 (GRCm39)	W42*	probably null	Het
Dnaaf11	C	A	15: 66,361,375 (GRCm39)	W42L	probably benign	Het
Dnah9	C	T	11: 65,818,526 (GRCm39)	V3271M	probably damaging	Het
Eed	T	A	7: 89,618,803 (GRCm39)	N204Y	possibly damaging	Het
Fat3	A	G	9: 15,910,878 (GRCm39)	V1708A	probably benign	Het
Fcrl6	T	C	1: 172,426,264 (GRCm39)	T178A	probably benign	Het
Galnt4	A	C	10: 98,945,563 (GRCm39)	K429N	possibly damaging	Het
Ints6	T	A	14: 62,996,709 (GRCm39)	T94S	possibly damaging	Het
Iqsec3	A	T	6: 121,360,916 (GRCm39)	S981T	probably damaging	Het
Itga9	T	A	9: 118,663,400 (GRCm39)	S146T	possibly damaging	Het
Itpr3	A	G	17: 27,336,249 (GRCm39)	Y2325C	probably damaging	Het
Kng2	T	A	16: 22,806,582 (GRCm39)	Q539L	probably damaging	Het
Lmtk3	T	A	7: 45,444,371 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,129,927 (GRCm39)	Y248H	probably damaging	Het
Mroh1	A	G	15: 76,318,879 (GRCm39)		probably benign	Het
Mroh2b	T	C	15: 4,980,776 (GRCm39)		probably null	Het
Myo18b	A	T	5: 112,991,151 (GRCm39)	M942K	probably damaging	Het
Myzap	T	A	9: 71,471,730 (GRCm39)	T94S	probably benign	Het
Nebl	C	A	2: 17,353,679 (GRCm39)	R957S	probably damaging	Het
Nexn	A	T	3: 151,952,885 (GRCm39)	D278E	probably benign	Het
Nlgn1	A	T	3: 25,966,846 (GRCm39)	N222K	probably damaging	Het
Or6c76	T	A	10: 129,612,727 (GRCm39)		probably benign	Het
Osbpl6	A	T	2: 76,380,094 (GRCm39)	R79S	possibly damaging	Het
Phip	T	C	9: 82,763,771 (GRCm39)	I1268M	probably benign	Het
Pkd2	G	T	5: 104,637,157 (GRCm39)	R590L	probably damaging	Het
Reg2	G	A	6: 78,382,568 (GRCm39)		probably benign	Het
Scaf1	A	T	7: 44,662,934 (GRCm39)	D26E	probably damaging	Het
Ska1	A	G	18: 74,329,981 (GRCm39)	I253T	possibly damaging	Het
Slc11a2	T	C	15: 100,299,169 (GRCm39)	N443D	probably damaging	Het
Slc6a12	A	T	6: 121,330,460 (GRCm39)	T155S	probably benign	Het
Slit3	A	G	11: 35,125,675 (GRCm39)	K118R	possibly damaging	Het
Snap23	T	G	2: 120,429,792 (GRCm39)	N212K	probably damaging	Het
Snx13	T	A	12: 35,151,078 (GRCm39)	D346E	probably benign	Het
Sumf1	C	A	6: 108,150,392 (GRCm39)		probably null	Het
Susd2	T	C	10: 75,474,267 (GRCm39)	N479S	possibly damaging	Het
Tiam1	A	G	16: 89,646,569 (GRCm39)	I821T	probably benign	Het
Tll2	C	A	19: 41,086,276 (GRCm39)	V651L	probably benign	Het
Vmn2r1	A	G	3: 64,012,104 (GRCm39)	D655G	probably benign	Het
Vmn2r72	T	C	7: 85,387,170 (GRCm39)	Y798C	probably damaging	Het
Vps13b	A	C	15: 35,646,479 (GRCm39)	I1528L	probably benign	Het
Wdtc1	G	A	4: 133,029,076 (GRCm39)	L337F	probably benign	Het
Zfp128	A	C	7: 12,623,959 (GRCm39)	K109T	possibly damaging	Het

Other mutations in Or8d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Or8d1	APN	9	38,767,095 (GRCm39)	missense	probably benign	0.00
IGL01909:Or8d1	APN	9	38,767,013 (GRCm39)	nonsense	probably null
IGL02229:Or8d1	APN	9	38,766,712 (GRCm39)	missense	possibly damaging	0.62
IGL02382:Or8d1	APN	9	38,766,364 (GRCm39)	missense	probably benign
IGL03007:Or8d1	APN	9	38,766,592 (GRCm39)	missense	probably damaging	1.00
IGL03118:Or8d1	APN	9	38,766,526 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Or8d1	UTSW	9	38,766,676 (GRCm39)	missense	probably benign	0.39
R0590:Or8d1	UTSW	9	38,766,766 (GRCm39)	missense	probably damaging	0.99
R0862:Or8d1	UTSW	9	38,766,478 (GRCm39)	missense	possibly damaging	0.89
R1779:Or8d1	UTSW	9	38,766,846 (GRCm39)	missense	possibly damaging	0.55
R1796:Or8d1	UTSW	9	38,766,820 (GRCm39)	missense	probably benign	0.01
R2083:Or8d1	UTSW	9	38,766,637 (GRCm39)	missense	probably benign	0.10
R3420:Or8d1	UTSW	9	38,766,621 (GRCm39)	missense	possibly damaging	0.92
R3421:Or8d1	UTSW	9	38,766,621 (GRCm39)	missense	possibly damaging	0.92
R4328:Or8d1	UTSW	9	38,767,132 (GRCm39)	missense	possibly damaging	0.62
R4470:Or8d1	UTSW	9	38,766,927 (GRCm39)	missense	probably damaging	1.00
R4471:Or8d1	UTSW	9	38,766,927 (GRCm39)	missense	probably damaging	1.00
R5047:Or8d1	UTSW	9	38,766,585 (GRCm39)	missense	probably benign	0.36
R5267:Or8d1	UTSW	9	38,767,101 (GRCm39)	missense	probably damaging	1.00
R5318:Or8d1	UTSW	9	38,766,744 (GRCm39)	missense	probably damaging	1.00
R6502:Or8d1	UTSW	9	38,766,933 (GRCm39)	missense	probably damaging	0.99
R7221:Or8d1	UTSW	9	38,766,538 (GRCm39)	missense	probably damaging	1.00
R7297:Or8d1	UTSW	9	38,767,245 (GRCm39)	missense	probably damaging	1.00
R7448:Or8d1	UTSW	9	38,766,412 (GRCm39)	missense	probably damaging	1.00
R7525:Or8d1	UTSW	9	38,766,534 (GRCm39)	missense	possibly damaging	0.89
R8040:Or8d1	UTSW	9	38,766,460 (GRCm39)	missense	probably damaging	0.99
R8303:Or8d1	UTSW	9	38,766,837 (GRCm39)	missense	probably damaging	1.00
R8972:Or8d1	UTSW	9	38,767,254 (GRCm39)	missense	probably damaging	1.00
Z1177:Or8d1	UTSW	9	38,766,531 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16