Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02900:Or8g2b'

363537

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: 0.066) question?

Stock #

IGL02900

Quality Score

Status

Chromosome

Chromosomal Location

39750732-39751655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39751108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 126 (I126N)

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: I126N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074913
Gene: ENSMUSG00000093934
AA Change: I126N

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: I126N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,728,774 (GRCm39)	T23N	possibly damaging	Het
Angpt4	T	A	2: 151,753,391 (GRCm39)	V47E	probably damaging	Het
Arhgef11	G	A	3: 87,640,467 (GRCm39)	R1208Q	probably benign	Het
Calb1	T	C	4: 15,895,695 (GRCm39)		probably benign	Het
Capn11	G	T	17: 45,941,540 (GRCm39)		probably null	Het
Carmil2	T	A	8: 106,422,151 (GRCm39)	I1140N	probably damaging	Het
Cnn3	A	T	3: 121,245,143 (GRCm39)	T23S	probably benign	Het
Colgalt2	C	T	1: 152,384,481 (GRCm39)	T607M	probably damaging	Het
Cyp46a1	T	G	12: 108,309,350 (GRCm39)	V93G	probably damaging	Het
Dcaf6	T	C	1: 165,227,344 (GRCm39)	Y261C	probably damaging	Het
Dnah10	A	G	5: 124,878,886 (GRCm39)	Y2715C	probably damaging	Het
Dsg1a	G	T	18: 20,461,713 (GRCm39)		probably benign	Het
Eml4	C	T	17: 83,785,421 (GRCm39)	P862L	probably benign	Het
Gm5414	T	C	15: 101,536,242 (GRCm39)	T128A	probably damaging	Het
Gp9	G	T	6: 87,756,415 (GRCm39)	W143C	probably damaging	Het
Hipk2	T	C	6: 38,706,879 (GRCm39)	I670V	probably damaging	Het
Hoxa10	T	C	6: 52,209,541 (GRCm39)	K77R	possibly damaging	Het
Kcna1	T	G	6: 126,620,057 (GRCm39)	S88R	probably damaging	Het
Kif1b	A	T	4: 149,265,266 (GRCm39)	S1758T	possibly damaging	Het
Klk1b11	A	G	7: 43,427,837 (GRCm39)	T182A	probably damaging	Het
Lrp1	G	A	10: 127,412,516 (GRCm39)		probably benign	Het
Magi1	A	G	6: 93,663,854 (GRCm39)	S991P	probably damaging	Het
Mast4	T	A	13: 102,872,184 (GRCm39)	T2203S	probably benign	Het
Mxra8	A	G	4: 155,925,668 (GRCm39)		probably null	Het
Mxra8	A	G	4: 155,925,576 (GRCm39)	E95G	possibly damaging	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Or14j9	A	G	17: 37,874,740 (GRCm39)	I154T	possibly damaging	Het
Or2f2	T	A	6: 42,767,808 (GRCm39)	Y278*	probably null	Het
Or8g4	A	T	9: 39,661,901 (GRCm39)	H73L	probably benign	Het
Pbx4	A	G	8: 70,319,216 (GRCm39)	E249G	probably damaging	Het
Pkd1l2	T	C	8: 117,750,830 (GRCm39)	E1727G	probably benign	Het
Plec	T	G	15: 76,070,414 (GRCm39)	D932A	probably damaging	Het
Pramel22	A	T	4: 143,382,085 (GRCm39)	F204I	possibly damaging	Het
Raph1	T	C	1: 60,542,022 (GRCm39)	D364G	probably damaging	Het
Rps29	T	A	12: 69,205,825 (GRCm39)	H3L	probably damaging	Het
Sema4c	A	T	1: 36,589,826 (GRCm39)	C509*	probably null	Het
Srgap2	A	T	1: 131,339,534 (GRCm39)		probably benign	Het
Stam2	A	T	2: 52,598,209 (GRCm39)	D243E	probably benign	Het
Stxbp4	A	G	11: 90,497,861 (GRCm39)	L146P	probably benign	Het
Teddm3	G	T	16: 20,971,900 (GRCm39)	T223K	probably benign	Het
Tfap2d	A	T	1: 19,189,474 (GRCm39)	N285Y	probably damaging	Het
Tmprss3	T	A	17: 31,403,553 (GRCm39)	D416V	probably damaging	Het
Vmn1r71	T	A	7: 10,482,601 (GRCm39)	Y29F	probably benign	Het
Vmn2r84	T	C	10: 130,223,861 (GRCm39)		probably benign	Het
Washc2	G	T	6: 116,204,435 (GRCm39)	D362Y	probably damaging	Het
Wbp2nl	T	C	15: 82,198,035 (GRCm39)	S191P	probably benign	Het
Zfp608	T	C	18: 55,079,865 (GRCm39)	T307A	probably damaging	Het
Zfp970	T	C	2: 177,166,610 (GRCm39)		probably benign	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
IGL01759:Or8g2b	APN	9	39,750,907 (GRCm39)	missense	probably damaging	0.99
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
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

2015-12-18