Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01759:Or8g2b'

153493

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8g2b

Ensembl Gene

ENSMUSG00000093934

Gene Name

olfactory receptor family 8 subfamily G member 2B

Synonyms

GA_x6K02T2PVTD-33539896-33540819, MOR171-13, Olfr971

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL01759

Quality Score

Status

Chromosome

Chromosomal Location

39750732-39751655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39750907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 59 (M59K)

Ref Sequence

ENSEMBL: ENSMUSP00000148850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075467] [ENSMUST00000214242]

AlphaFold

Q9EQ96

Predicted Effect

probably damaging
Transcript: ENSMUST00000075467
AA Change: M59K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074913
Gene: ENSMUSG00000093934
AA Change: M59K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2.6e-53	PFAM
Pfam:7tm_1	41	290	9.5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214242
AA Change: M59K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	T	11: 95,726,625 (GRCm39)	D150E	probably damaging	Het
Akr1c14	T	A	13: 4,131,139 (GRCm39)	I277N	probably damaging	Het
Ap1b1	C	T	11: 4,969,433 (GRCm39)	T263I	probably damaging	Het
Atp6v0d2	C	A	4: 19,878,335 (GRCm39)	V313L	probably damaging	Het
Car2	G	A	3: 14,960,688 (GRCm39)		probably null	Het
Cdh17	T	A	4: 11,771,262 (GRCm39)		probably benign	Het
Cep295	A	G	9: 15,234,855 (GRCm39)		probably null	Het
Cep97	T	C	16: 55,750,936 (GRCm39)	K27E	probably damaging	Het
Cops5	A	T	1: 10,097,474 (GRCm39)	N258K	probably damaging	Het
Dchs1	T	A	7: 105,404,509 (GRCm39)	T2678S	probably benign	Het
Dnah10	T	A	5: 124,832,850 (GRCm39)	F861Y	probably benign	Het
Dock10	T	C	1: 80,503,990 (GRCm39)	E1777G	probably damaging	Het
Dock5	G	A	14: 68,118,708 (GRCm39)	Q23*	probably null	Het
Ermp1	T	C	19: 29,593,236 (GRCm39)	K752R	probably benign	Het
Fhip1a	A	C	3: 85,595,754 (GRCm39)	I377S	probably damaging	Het
Gjd2	T	A	2: 113,841,587 (GRCm39)	I297L	probably benign	Het
Gm1123	T	C	9: 98,905,307 (GRCm39)	M68V	probably benign	Het
Gm28372	C	T	2: 130,248,818 (GRCm39)	R59W	probably damaging	Het
Gm9912	A	C	3: 148,891,074 (GRCm39)	F20V	unknown	Het
Gpat2	T	C	2: 127,272,816 (GRCm39)	F176S	possibly damaging	Het
Gpr150	T	C	13: 76,203,784 (GRCm39)	H387R	possibly damaging	Het
Gpr20	T	A	15: 73,568,269 (GRCm39)	D40V	probably damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Jakmip3	A	T	7: 138,622,633 (GRCm39)	Q331L	probably damaging	Het
Kif5b	A	G	18: 6,225,647 (GRCm39)	V179A	probably damaging	Het
Kif5b	A	T	18: 6,211,019 (GRCm39)		probably benign	Het
Krt14	A	T	11: 100,095,242 (GRCm39)		probably benign	Het
L3mbtl3	A	G	10: 26,207,798 (GRCm39)	F307S	unknown	Het
Laptm4a	T	C	12: 8,984,687 (GRCm39)		probably benign	Het
Marveld3	T	C	8: 110,674,719 (GRCm39)	S366G	possibly damaging	Het
Mga	C	A	2: 119,781,676 (GRCm39)	T2234K	possibly damaging	Het
Mkrn2os	T	C	6: 115,569,292 (GRCm39)	N54S	probably benign	Het
Mras	T	C	9: 99,293,548 (GRCm39)	I31V	probably damaging	Het
Myh1	A	G	11: 67,110,732 (GRCm39)	D1518G	probably damaging	Het
Myoz2	A	T	3: 122,807,430 (GRCm39)	Y127N	possibly damaging	Het
Nhlrc1	C	A	13: 47,167,438 (GRCm39)	W273L	probably benign	Het
Nol9	C	T	4: 152,130,500 (GRCm39)		probably benign	Het
Nrxn2	T	C	19: 6,559,959 (GRCm39)	V1206A	probably damaging	Het
Or2ag1b	T	C	7: 106,288,540 (GRCm39)	T133A	probably benign	Het
Or5k16	A	T	16: 58,736,291 (GRCm39)	F238I	probably damaging	Het
Or6c5	T	A	10: 129,074,941 (GRCm39)	F308I	probably benign	Het
Or6f2	T	C	7: 139,756,447 (GRCm39)	I138T	probably benign	Het
Pappa	T	C	4: 65,123,395 (GRCm39)		probably null	Het
Pfkl	A	G	10: 77,836,565 (GRCm39)	S151P	probably damaging	Het
Pgbd5	C	T	8: 125,111,118 (GRCm39)	G191D	probably damaging	Het
Pikfyve	T	C	1: 65,292,512 (GRCm39)	V1276A	probably benign	Het
Pla2g4c	T	A	7: 13,082,241 (GRCm39)	Y486N	probably damaging	Het
Rasal2	C	A	1: 157,003,502 (GRCm39)	V386L	probably benign	Het
S1pr3	G	A	13: 51,573,548 (GRCm39)	R243Q	probably damaging	Het
Slc44a4	A	G	17: 35,140,219 (GRCm39)	D208G	probably benign	Het
Slc6a4	T	C	11: 76,904,114 (GRCm39)	S190P	probably damaging	Het
Snapc5	A	T	9: 64,087,779 (GRCm39)		probably null	Het
Tbc1d14	C	A	5: 36,728,913 (GRCm39)	R151L	probably damaging	Het
Tecpr2	T	A	12: 110,897,826 (GRCm39)		probably benign	Het
Tmem219	G	A	7: 126,496,310 (GRCm39)	P44L	probably damaging	Het
Ube2e1	T	C	14: 18,330,951 (GRCm38)	R51G	probably null	Het
Ugp2	T	C	11: 21,303,447 (GRCm39)	K53E	probably benign	Het
Vmn1r214	T	C	13: 23,218,662 (GRCm39)	I52T	probably benign	Het
Vmn2r124	C	T	17: 18,284,330 (GRCm39)	T457I	probably benign	Het
Vps13b	A	G	15: 35,878,935 (GRCm39)	E2978G	probably damaging	Het
Zfr	A	G	15: 12,159,741 (GRCm39)	D679G	probably damaging	Het
Zhx3	T	C	2: 160,622,634 (GRCm39)	N511S	probably damaging	Het

Other mutations in Or8g2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Or8g2b	APN	9	39,751,002 (GRCm39)	missense	probably benign	0.02
IGL00920:Or8g2b	APN	9	39,751,230 (GRCm39)	missense	probably benign
IGL02867:Or8g2b	APN	9	39,751,533 (GRCm39)	missense	probably benign	0.03
IGL02889:Or8g2b	APN	9	39,751,533 (GRCm39)	missense	probably benign	0.03
IGL02900:Or8g2b	APN	9	39,751,108 (GRCm39)	missense	probably damaging	1.00
IGL03333:Or8g2b	APN	9	39,751,308 (GRCm39)	missense	probably damaging	0.98
R0831:Or8g2b	UTSW	9	39,751,579 (GRCm39)	missense	probably damaging	1.00
R1004:Or8g2b	UTSW	9	39,751,276 (GRCm39)	missense	probably benign	0.21
R1711:Or8g2b	UTSW	9	39,751,581 (GRCm39)	missense	probably benign	0.39
R3900:Or8g2b	UTSW	9	39,750,698 (GRCm39)	splice site	probably null
R4424:Or8g2b	UTSW	9	39,751,652 (GRCm39)	missense	possibly damaging	0.52
R4530:Or8g2b	UTSW	9	39,751,379 (GRCm39)	missense	probably benign
R5385:Or8g2b	UTSW	9	39,751,126 (GRCm39)	missense	possibly damaging	0.95
R5386:Or8g2b	UTSW	9	39,751,126 (GRCm39)	missense	possibly damaging	0.95
R7199:Or8g2b	UTSW	9	39,750,753 (GRCm39)	missense	probably benign
R7849:Or8g2b	UTSW	9	39,751,618 (GRCm39)	missense	possibly damaging	0.59
R8193:Or8g2b	UTSW	9	39,750,757 (GRCm39)	missense	probably benign	0.00
R8342:Or8g2b	UTSW	9	39,751,612 (GRCm39)	missense	probably damaging	1.00
R8474:Or8g2b	UTSW	9	39,751,048 (GRCm39)	missense	possibly damaging	0.85
R8851:Or8g2b	UTSW	9	39,751,600 (GRCm39)	missense	probably damaging	1.00
R9079:Or8g2b	UTSW	9	39,750,769 (GRCm39)	missense	probably benign	0.07

Posted On

2014-02-04