Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02349:Or8b12'

289400

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8b12

Ensembl Gene

ENSMUSG00000063350

Gene Name

olfactory receptor family 8 subfamily B member 12

Synonyms

GA_x6K02T2PVTD-31428850-31429782, MOR161-2, Olfr874

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL02349

Quality Score

Status

Chromosome

Chromosomal Location

37656596-37658402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37657502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 24 (M24K)

Ref Sequence

ENSEMBL: ENSMUSP00000150088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115004] [ENSMUST00000216982]

AlphaFold

Q7TRE6

Predicted Effect

probably benign
Transcript: ENSMUST00000115004
AA Change: M24K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000110656
Gene: ENSMUSG00000063350
AA Change: M24K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	5.9e-49	PFAM
Pfam:7tm_1	40	289	6.2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216982
AA Change: M24K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

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
Abcb8	A	G	5: 24,611,462 (GRCm39)	I484V	probably benign	Het
Acly	C	T	11: 100,410,505 (GRCm39)	E158K	probably benign	Het
Akap3	T	A	6: 126,837,226 (GRCm39)	D3E	probably benign	Het
Alg8	A	G	7: 97,029,101 (GRCm39)	N152S	possibly damaging	Het
Ano7	A	G	1: 93,319,212 (GRCm39)	T323A	probably benign	Het
Bmp1	T	C	14: 70,744,989 (GRCm39)	Y252C	possibly damaging	Het
Cacnb3	A	T	15: 98,538,842 (GRCm39)	K159*	probably null	Het
Capns2	T	A	8: 93,628,690 (GRCm39)	V193D	probably benign	Het
Cct2	A	G	10: 116,889,044 (GRCm39)	I48T	probably benign	Het
Cep152	A	G	2: 125,436,876 (GRCm39)	S555P	probably damaging	Het
Col5a3	T	C	9: 20,683,657 (GRCm39)	E1533G	unknown	Het
Cyp17a1	A	G	19: 46,655,936 (GRCm39)	L451P	probably damaging	Het
Dgcr8	T	C	16: 18,098,170 (GRCm39)	E407G	possibly damaging	Het
Dhx57	T	A	17: 80,563,000 (GRCm39)	N876Y	probably damaging	Het
Dnah7b	T	A	1: 46,138,663 (GRCm39)	L235*	probably null	Het
Fgfr2	A	G	7: 129,844,336 (GRCm39)	Y50H	probably damaging	Het
Gars1	T	A	6: 55,025,049 (GRCm39)		probably benign	Het
Gfpt2	A	T	11: 49,698,530 (GRCm39)	I42F	probably benign	Het
Glcci1	A	G	6: 8,558,581 (GRCm39)	K35E	probably damaging	Het
Gpatch1	T	A	7: 35,006,680 (GRCm39)	M163L	probably damaging	Het
Gpr132	T	C	12: 112,816,475 (GRCm39)	Y117C	probably damaging	Het
Ints1	G	A	5: 139,754,223 (GRCm39)	P650S	probably damaging	Het
Itga2b	T	C	11: 102,352,189 (GRCm39)	D464G	probably damaging	Het
Kansl2	C	A	15: 98,427,327 (GRCm39)	G185C	probably damaging	Het
Kat6b	T	A	14: 21,687,661 (GRCm39)	M570K	probably damaging	Het
Macir	A	G	1: 97,573,777 (GRCm39)	L96P	probably damaging	Het
Map3k19	T	A	1: 127,751,506 (GRCm39)	D615V	possibly damaging	Het
Map3k7cl	A	G	16: 87,352,901 (GRCm39)		probably benign	Het
Msto1	A	C	3: 88,818,205 (GRCm39)	S360R	possibly damaging	Het
Myo15b	C	A	11: 115,753,931 (GRCm39)		probably benign	Het
Nhlrc2	T	C	19: 56,580,151 (GRCm39)	V428A	possibly damaging	Het
Or13a28	T	C	7: 140,218,384 (GRCm39)	F257L	probably benign	Het
Or1j19	A	C	2: 36,677,058 (GRCm39)	T174P	possibly damaging	Het
Or51a39	G	A	7: 102,363,333 (GRCm39)	R96C	probably damaging	Het
Or51f2	A	T	7: 102,527,116 (GRCm39)	Y263F	probably benign	Het
Or5p51	A	G	7: 107,444,812 (GRCm39)	S43P	probably benign	Het
Pcm1	G	T	8: 41,741,192 (GRCm39)		probably null	Het
Plekhg3	A	T	12: 76,609,074 (GRCm39)	N149I	probably damaging	Het
Rbp3	C	A	14: 33,677,676 (GRCm39)	H541Q	probably damaging	Het
Rgp1	T	C	4: 43,581,236 (GRCm39)		probably null	Het
Scyl2	A	T	10: 89,493,800 (GRCm39)		probably benign	Het
Tas2r144	A	C	6: 42,193,010 (GRCm39)	H250P	probably benign	Het
Tmppe	T	C	9: 114,234,268 (GRCm39)	V189A	probably benign	Het
Trp53bp1	G	A	2: 121,029,555 (GRCm39)	S1875L	probably damaging	Het
Txnl4a	T	A	18: 80,261,944 (GRCm39)	L60H	probably damaging	Het
Upp2	A	G	2: 58,667,898 (GRCm39)	D217G	probably benign	Het
Vmn2r74	A	G	7: 85,601,724 (GRCm39)	L638P	probably damaging	Het
Vnn1	A	G	10: 23,774,401 (GRCm39)	N148S	possibly damaging	Het
Xrcc1	C	T	7: 24,266,467 (GRCm39)	Q241*	probably null	Het
Zfp990	A	G	4: 145,257,447 (GRCm39)		probably benign	Het

Other mutations in Or8b12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Or8b12	APN	9	37,657,685 (GRCm39)	missense	possibly damaging	0.89
IGL02799:Or8b12	UTSW	9	37,657,805 (GRCm39)	missense	probably damaging	1.00
R0498:Or8b12	UTSW	9	37,657,550 (GRCm39)	missense	probably damaging	1.00
R0690:Or8b12	UTSW	9	37,657,513 (GRCm39)	missense	probably benign	0.01
R1053:Or8b12	UTSW	9	37,658,131 (GRCm39)	missense	probably damaging	0.99
R1777:Or8b12	UTSW	9	37,657,607 (GRCm39)	missense	possibly damaging	0.78
R1862:Or8b12	UTSW	9	37,658,264 (GRCm39)	missense	probably benign
R1907:Or8b12	UTSW	9	37,657,729 (GRCm39)	missense	probably benign	0.35
R4524:Or8b12	UTSW	9	37,658,162 (GRCm39)	missense	possibly damaging	0.50
R4731:Or8b12	UTSW	9	37,657,831 (GRCm39)	missense	probably benign	0.06
R4746:Or8b12	UTSW	9	37,657,453 (GRCm39)	missense	probably benign	0.02
R4768:Or8b12	UTSW	9	37,658,177 (GRCm39)	missense	probably damaging	1.00
R5130:Or8b12	UTSW	9	37,657,805 (GRCm39)	missense	probably damaging	1.00
R5406:Or8b12	UTSW	9	37,657,943 (GRCm39)	missense	probably benign	0.23
R5546:Or8b12	UTSW	9	37,657,820 (GRCm39)	missense	probably benign	0.05
R5882:Or8b12	UTSW	9	37,657,928 (GRCm39)	missense	probably benign	0.02
R5946:Or8b12	UTSW	9	37,658,330 (GRCm39)	missense	probably damaging	0.99
R6226:Or8b12	UTSW	9	37,657,433 (GRCm39)	start codon destroyed	probably null	1.00
R6705:Or8b12	UTSW	9	37,658,030 (GRCm39)	missense	possibly damaging	0.94
R6965:Or8b12	UTSW	9	37,657,433 (GRCm39)	start codon destroyed	probably null	1.00
R8008:Or8b12	UTSW	9	37,658,089 (GRCm39)	missense	probably damaging	0.99
R8743:Or8b12	UTSW	9	37,658,174 (GRCm39)	missense	probably benign
R9066:Or8b12	UTSW	9	37,657,871 (GRCm39)	missense	possibly damaging	0.65
R9068:Or8b12	UTSW	9	37,657,963 (GRCm39)	missense	probably damaging	1.00
R9756:Or8b12	UTSW	9	37,658,314 (GRCm39)	missense	possibly damaging	0.88

Posted On

2015-04-16