Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00158:Or8b12'

1332

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: 0.094) question?

Stock #

IGL00158

Quality Score

Status

Chromosome

Chromosomal Location

37656596-37658402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37657685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 85 (I85N)

Ref Sequence

ENSEMBL: ENSMUSP00000150088 (fasta)

Gene Model

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

AlphaFold

Q7TRE6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115004
AA Change: I85N

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110656
Gene: ENSMUSG00000063350
AA Change: I85N

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

possibly damaging
Transcript: ENSMUST00000216982
AA Change: I85N

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	A	18: 10,647,869 (GRCm39)	D300V	possibly damaging	Het
Agap1	A	G	1: 89,591,518 (GRCm39)		probably benign	Het
Best3	A	G	10: 116,840,446 (GRCm39)		probably benign	Het
Cfap43	T	G	19: 47,818,914 (GRCm39)	I125L	probably benign	Het
Cntn1	A	G	15: 92,148,758 (GRCm39)	E335G	possibly damaging	Het
Csmd3	A	T	15: 48,150,891 (GRCm39)	S396T	possibly damaging	Het
Cxxc5	T	G	18: 35,993,745 (GRCm39)	*318G	probably null	Het
Dpep3	T	C	8: 106,705,779 (GRCm39)	T49A	probably benign	Het
Elf1	T	A	14: 79,817,789 (GRCm39)	M436K	possibly damaging	Het
Ephx2	T	G	14: 66,330,286 (GRCm39)	I310L	probably benign	Het
Fancm	A	G	12: 65,122,510 (GRCm39)	T11A	possibly damaging	Het
Ganab	G	T	19: 8,879,959 (GRCm39)	A73S	probably benign	Het
Glp1r	T	G	17: 31,120,891 (GRCm39)	L14R	possibly damaging	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Krtap9-1	C	T	11: 99,764,680 (GRCm39)	P139S	unknown	Het
L2hgdh	T	C	12: 69,748,208 (GRCm39)	D306G	possibly damaging	Het
Liat1	T	C	11: 75,894,192 (GRCm39)	S190P	probably benign	Het
Lrriq4	A	G	3: 30,705,104 (GRCm39)		probably null	Het
Mbd3	T	G	10: 80,229,717 (GRCm39)		probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mug1	T	C	6: 121,842,768 (GRCm39)	S585P	probably damaging	Het
Nat8f4	C	A	6: 85,877,969 (GRCm39)	A185S	probably benign	Het
Nlrc5	C	T	8: 95,228,839 (GRCm39)		probably benign	Het
Or8g23	T	A	9: 38,971,159 (GRCm39)	M268L	probably benign	Het
Peg3	T	A	7: 6,713,273 (GRCm39)	I650F	probably benign	Het
Prom1	A	T	5: 44,213,279 (GRCm39)	N142K	probably damaging	Het
Qser1	T	A	2: 104,596,401 (GRCm39)	D1537V	probably damaging	Het
Rbm44	T	A	1: 91,084,831 (GRCm39)	D684E	probably benign	Het
Rnf19a	A	C	15: 36,265,948 (GRCm39)	S50A	probably damaging	Het
Rnf31	A	G	14: 55,829,776 (GRCm39)		probably null	Het
Rspry1	A	G	8: 95,349,614 (GRCm39)	M1V	probably null	Het
Rspry1	A	T	8: 95,349,608 (GRCm39)		probably benign	Het
Sap130	C	A	18: 31,831,819 (GRCm39)	P769T	probably benign	Het
Slc22a16	T	A	10: 40,471,278 (GRCm39)	M483K	probably damaging	Het
Slc27a1	T	C	8: 72,037,416 (GRCm39)		probably null	Het
Slc35a5	A	T	16: 44,972,971 (GRCm39)	C65*	probably null	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Ubqlnl	T	C	7: 103,798,372 (GRCm39)	E375G	probably benign	Het
Uggt2	G	A	14: 119,286,688 (GRCm39)	T692I	possibly damaging	Het
Vmn1r211	A	T	13: 23,036,272 (GRCm39)	C132S	probably benign	Het
Vmn2r61	A	T	7: 41,950,175 (GRCm39)	N865I	possibly damaging	Het
Vmn2r73	A	T	7: 85,506,795 (GRCm39)	M839K		Het
Xrn2	T	A	2: 146,878,670 (GRCm39)	S455R	probably benign	Het
Zan	T	A	5: 137,452,519 (GRCm39)	T1521S	unknown	Het
Zfp326	A	G	5: 106,054,911 (GRCm39)	M361V	possibly damaging	Het
Zfp472	A	G	17: 33,196,498 (GRCm39)	Y191C	possibly damaging	Het

Other mutations in Or8b12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02349:Or8b12	APN	9	37,657,502 (GRCm39)	missense	probably benign	0.03
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

2011-07-12