Mutagenetix > Incidental Mutation

Incidental Mutation 'R8153:Or8d2'

633142

Institutional Source

Beutler Lab

Gene Symbol

Or8d2

Ensembl Gene

ENSMUSG00000062103

Gene Name

olfactory receptor family 8 subfamily D member 2

Synonyms

GA_x6K02T2PVTD-32543982-32544908, MOR171-47, MOR171-27P, Olfr924, MOR171-27P, Olfr1520-ps1

MMRRC Submission

067579-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8153 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38759412-38760338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38759631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 74 (I74V)

Ref Sequence

ENSEMBL: ENSMUSP00000149849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072977] [ENSMUST00000217350]

AlphaFold

Q7TRB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072977
AA Change: I74V

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072744
Gene: ENSMUSG00000062103
AA Change: I74V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	4.6e-54	PFAM
Pfam:7TM_GPCR_Srsx	32	279	7.2e-7	PFAM
Pfam:7tm_1	38	287	1.6e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217350
AA Change: I74V

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,157 (GRCm39)	S287T	probably benign	Het
Abca15	T	C	7: 119,999,812 (GRCm39)	S1429P	probably damaging	Het
Arfgef2	GTGTGCAGAAACT	GT	2: 166,676,383 (GRCm39)	92	probably null	Het
C1qb	A	G	4: 136,607,877 (GRCm39)	V162A	possibly damaging	Het
Cachd1	G	T	4: 100,845,835 (GRCm39)		probably null	Het
Cfap61	T	C	2: 146,042,704 (GRCm39)	I1159T	probably benign	Het
Csf1	T	A	3: 107,656,020 (GRCm39)	D337V	probably damaging	Het
Ddhd2	T	A	8: 26,240,816 (GRCm39)	T251S	probably benign	Het
Dnah5	A	G	15: 28,384,576 (GRCm39)	T3107A	probably damaging	Het
Dnph1	T	C	17: 46,809,965 (GRCm39)	V169A	probably benign	Het
Ebf2	T	C	14: 67,627,914 (GRCm39)	V303A	probably damaging	Het
Eif4a3l2	A	T	6: 116,528,968 (GRCm39)	I282F	probably damaging	Het
Enpp3	A	G	10: 24,685,777 (GRCm39)	F206S	probably damaging	Het
Fam151b	G	T	13: 92,614,410 (GRCm39)	T26K	probably damaging	Het
Fga	T	C	3: 82,938,164 (GRCm39)	S180P	probably damaging	Het
Fpr-rs3	A	G	17: 20,844,685 (GRCm39)	L152P	probably damaging	Het
Gen1	C	A	12: 11,310,948 (GRCm39)	G95W	probably damaging	Het
Ggta1	T	A	2: 35,313,333 (GRCm39)	T3S	possibly damaging	Het
Gm4884	T	A	7: 40,692,582 (GRCm39)	C184S	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gsx2	T	C	5: 75,237,716 (GRCm39)	S223P	probably damaging	Het
Hnf4g	C	T	3: 3,699,250 (GRCm39)		probably benign	Het
Iqub	A	C	6: 24,450,789 (GRCm39)	Y603*	probably null	Het
Klhl22	A	G	16: 17,610,414 (GRCm39)	N555S	probably damaging	Het
Lama5	T	C	2: 179,829,724 (GRCm39)	D1928G	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Lamc2	CATCAGCTA	CA	1: 152,999,850 (GRCm39)		probably null	Het
Lgr4	T	A	2: 109,830,645 (GRCm39)	F255I	probably damaging	Het
Lnx2	T	C	5: 146,964,906 (GRCm39)	N439S	probably benign	Het
Lztr1	G	T	16: 17,336,439 (GRCm39)		probably null	Het
Mtcl3	G	T	10: 29,024,235 (GRCm39)	E384*	probably null	Het
Nfkb2	G	T	19: 46,296,455 (GRCm39)	R241L	probably damaging	Het
Nrcam	T	C	12: 44,631,755 (GRCm39)	F1103L	probably benign	Het
Or2g1	A	G	17: 38,106,367 (GRCm39)	I11V	probably benign	Het
Or5k17	A	G	16: 58,746,149 (GRCm39)	S262P	possibly damaging	Het
Or8g52	A	G	9: 39,630,954 (GRCm39)	M144V	possibly damaging	Het
Otof	C	A	5: 30,546,079 (GRCm39)	A425S	probably damaging	Het
Parg	T	A	14: 31,984,777 (GRCm39)	L774H	probably damaging	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pcnx4	T	A	12: 72,603,017 (GRCm39)	F426L	probably benign	Het
Pde5a	T	G	3: 122,646,225 (GRCm39)	S805R	probably benign	Het
Pde5a	T	A	3: 122,646,227 (GRCm39)	M806K	probably damaging	Het
Plekhh1	T	C	12: 79,125,812 (GRCm39)	S1283P	probably benign	Het
Ppp1r12a	A	G	10: 107,998,303 (GRCm39)	K15E	probably damaging	Het
Prkdc	A	T	16: 15,482,108 (GRCm39)	M384L	probably damaging	Het
Ptchd4	A	G	17: 42,814,787 (GRCm39)	D896G	probably benign	Het
Rsf1	GGC	GGCTACGGCCGC	7: 97,229,113 (GRCm39)		probably benign	Het
Slmap	T	C	14: 26,254,488 (GRCm39)	S65G	probably benign	Het
Snta1	C	A	2: 154,222,722 (GRCm39)	L298F	probably damaging	Het
Sphkap	T	G	1: 83,255,730 (GRCm39)	N673T	possibly damaging	Het
St8sia5	T	G	18: 77,340,807 (GRCm39)		probably null	Het
Tgm6	T	C	2: 129,986,975 (GRCm39)	V481A	probably benign	Het
Thada	T	C	17: 84,700,855 (GRCm39)	N1217S	possibly damaging	Het
Tia1	C	G	6: 86,397,314 (GRCm39)	H107D	probably damaging	Het
Ttn	A	G	2: 76,746,956 (GRCm39)	Y4698H	probably benign	Het
Ube3c	T	C	5: 29,811,929 (GRCm39)	Y390H	possibly damaging	Het
Ubqln5	A	G	7: 103,778,011 (GRCm39)	I271T	possibly damaging	Het
Vmn2r109	A	G	17: 20,784,969 (GRCm39)	V17A	probably benign	Het
Xkr9	A	G	1: 13,754,363 (GRCm39)	D119G	probably benign	Het
Zfp236	C	T	18: 82,648,152 (GRCm39)	C1003Y	probably damaging	Het

Other mutations in Or8d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Or8d2	APN	9	38,759,548 (GRCm39)	missense	probably damaging	1.00
IGL01673:Or8d2	APN	9	38,760,316 (GRCm39)	missense	probably benign	0.00
IGL01769:Or8d2	APN	9	38,759,629 (GRCm39)	missense	probably benign	0.01
IGL02015:Or8d2	APN	9	38,760,090 (GRCm39)	missense	probably damaging	0.99
IGL02525:Or8d2	APN	9	38,759,536 (GRCm39)	missense	possibly damaging	0.82
IGL02728:Or8d2	APN	9	38,760,222 (GRCm39)	missense	probably damaging	1.00
IGL02944:Or8d2	APN	9	38,760,048 (GRCm39)	missense	possibly damaging	0.88
IGL03127:Or8d2	APN	9	38,759,505 (GRCm39)	missense	probably damaging	1.00
R0613:Or8d2	UTSW	9	38,759,909 (GRCm39)	nonsense	probably null
R0811:Or8d2	UTSW	9	38,759,805 (GRCm39)	missense	probably benign
R0812:Or8d2	UTSW	9	38,759,805 (GRCm39)	missense	probably benign
R1558:Or8d2	UTSW	9	38,760,200 (GRCm39)	missense	probably benign	0.00
R1604:Or8d2	UTSW	9	38,760,000 (GRCm39)	missense	probably benign	0.04
R1681:Or8d2	UTSW	9	38,759,809 (GRCm39)	missense	probably damaging	1.00
R1730:Or8d2	UTSW	9	38,760,268 (GRCm39)	missense	probably damaging	1.00
R1783:Or8d2	UTSW	9	38,760,268 (GRCm39)	missense	probably damaging	1.00
R1791:Or8d2	UTSW	9	38,759,901 (GRCm39)	missense	possibly damaging	0.75
R2144:Or8d2	UTSW	9	38,759,635 (GRCm39)	missense	probably damaging	1.00
R5741:Or8d2	UTSW	9	38,759,899 (GRCm39)	nonsense	probably null
R6521:Or8d2	UTSW	9	38,759,893 (GRCm39)	missense	probably benign
R6808:Or8d2	UTSW	9	38,760,085 (GRCm39)	missense	probably damaging	1.00
R7608:Or8d2	UTSW	9	38,759,806 (GRCm39)	missense	possibly damaging	0.63
R7741:Or8d2	UTSW	9	38,759,614 (GRCm39)	missense	probably damaging	1.00
R8157:Or8d2	UTSW	9	38,759,762 (GRCm39)	nonsense	probably null
R8798:Or8d2	UTSW	9	38,760,213 (GRCm39)	missense	probably benign	0.04
RF004:Or8d2	UTSW	9	38,760,114 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CAGTGATTGATTTTATCCTCGAAGG -3'
(R):5'- ACAGACCTTGTGGGACATGAC -3'

Sequencing Primer
(F):5'- GGATTAACAAAACGCCCAGAGCTTC -3'
(R):5'- CATGACAATGTTATAAAGCAGTGGGC -3'

Posted On

2020-06-30