Mutagenetix > Incidental Mutation

Incidental Mutation 'R8851:Or8g2b'

675010

Institutional Source

Beutler Lab

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 #

R8851 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39750732-39751655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39751600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 290 (Y290C)

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: Y290C

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

SMART Domains

Protein: ENSMUSP00000074913
Gene: ENSMUSG00000093934
AA Change: Y290C

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: Y290C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,159,683 (GRCm39)	I279F	probably benign	Het
Adamts7	A	G	9: 90,075,163 (GRCm39)	N965S	probably benign	Het
Adgrl3	A	G	5: 81,613,119 (GRCm39)	Y184C	probably damaging	Het
Ankar	T	C	1: 72,691,535 (GRCm39)	Y1142C	probably damaging	Het
Apoa4	A	G	9: 46,153,906 (GRCm39)	K169R	probably benign	Het
Cd22	T	A	7: 30,577,084 (GRCm39)	K74N	probably benign	Het
Defa39	T	A	8: 22,193,555 (GRCm39)	I22F	possibly damaging	Het
Dgcr2	G	A	16: 17,690,507 (GRCm39)	T41I	possibly damaging	Het
Dicer1	A	G	12: 104,690,300 (GRCm39)	V245A	possibly damaging	Het
Dop1b	T	A	16: 93,559,398 (GRCm39)	S715T	probably benign	Het
Epb41l1	A	T	2: 156,364,431 (GRCm39)	H980L	probably benign	Het
Erc2	A	T	14: 28,039,216 (GRCm39)	E973V	probably null	Het
Fam124b	T	A	1: 80,190,882 (GRCm39)	Q167L	probably damaging	Het
Frmpd2	A	G	14: 33,217,643 (GRCm39)	E46G	probably damaging	Het
Gabrb2	G	A	11: 42,312,186 (GRCm39)	V4I	probably benign	Het
Gbf1	T	A	19: 46,256,922 (GRCm39)	N841K	probably damaging	Het
Gnpat	A	G	8: 125,601,004 (GRCm39)	H161R	probably damaging	Het
Gpd2	A	T	2: 57,197,062 (GRCm39)	M206L	possibly damaging	Het
Grid2ip	T	C	5: 143,348,352 (GRCm39)	F148L	possibly damaging	Het
Hemk1	A	G	9: 107,213,412 (GRCm39)	V128A	probably benign	Het
Ism1	G	T	2: 139,591,465 (GRCm39)	S273I	probably damaging	Het
Kcnab3	G	T	11: 69,218,990 (GRCm39)		probably null	Het
Kdm6b	A	G	11: 69,291,993 (GRCm39)	Y1430H	unknown	Het
Lama2	A	G	10: 27,242,119 (GRCm39)	V279A	possibly damaging	Het
Lmf1	G	A	17: 25,804,680 (GRCm39)	W119*	probably null	Het
Lrrc42	A	G	4: 107,096,375 (GRCm39)	V276A	probably benign	Het
Magi2	T	C	5: 20,270,618 (GRCm39)	F163L	probably damaging	Het
Map2k2	A	G	10: 80,955,097 (GRCm39)	K196R	probably damaging	Het
Mfsd11	C	A	11: 116,752,479 (GRCm39)	D209E	probably benign	Het
Muc1	C	A	3: 89,138,425 (GRCm39)	F422L	probably benign	Het
Muc13	A	G	16: 33,631,273 (GRCm39)	H391R	probably benign	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Nfatc2ip	T	C	7: 125,986,617 (GRCm39)	Q346R	probably damaging	Het
Otol1	T	A	3: 69,935,299 (GRCm39)	D430E	probably damaging	Het
Pcdh1	T	C	18: 38,325,155 (GRCm39)	E929G	probably damaging	Het
Pip4p2	T	C	4: 14,912,491 (GRCm39)	M200T	possibly damaging	Het
Plekhf1	C	T	7: 37,921,466 (GRCm39)	R34H	probably damaging	Het
Plekhm2	A	T	4: 141,358,639 (GRCm39)	V622E	probably benign	Het
Pomt2	G	A	12: 87,184,838 (GRCm39)	T196I	probably damaging	Het
Ppp1r12c	C	T	7: 4,487,703 (GRCm39)	G436D	probably damaging	Het
Prss50	A	G	9: 110,687,081 (GRCm39)		probably benign	Het
Slc29a1	A	G	17: 45,900,402 (GRCm39)	I176T	probably damaging	Het
Slc5a9	A	T	4: 111,755,790 (GRCm39)	V36E	probably damaging	Het
Slc7a1	A	C	5: 148,285,093 (GRCm39)	S133R	probably damaging	Het
Sox17	A	G	1: 4,562,073 (GRCm39)	Y376H	probably benign	Het
Spata4	T	C	8: 55,062,935 (GRCm39)	I280T	probably benign	Het
Svop	T	A	5: 114,192,557 (GRCm39)	I187F	probably damaging	Het
Tas2r103	T	A	6: 133,013,896 (GRCm39)	I57F		Het
Tead3	A	G	17: 28,551,704 (GRCm39)	V463A	probably damaging	Het
Tenm4	G	C	7: 96,501,710 (GRCm39)	G1305R	probably damaging	Het
Top2a	A	T	11: 98,900,677 (GRCm39)	F594L	probably damaging	Het
Trim23	A	G	13: 104,334,573 (GRCm39)	T419A	possibly damaging	Het
Ttn	T	C	2: 76,629,237 (GRCm39)	E12621G	probably damaging	Het
Ttyh2	A	G	11: 114,593,090 (GRCm39)	I254V	probably benign	Het
Vmn2r58	T	C	7: 41,487,219 (GRCm39)	M559V	probably benign	Het
Wwp1	A	T	4: 19,643,437 (GRCm39)	H358Q	probably null	Het
Zcwpw1	A	C	5: 137,820,626 (GRCm39)	D597A	probably damaging	Het
Zfp318	A	T	17: 46,710,761 (GRCm39)	Y828F	probably damaging	Het
Zfp608	T	A	18: 55,032,194 (GRCm39)	N582I	possibly 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
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
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
R9079:Or8g2b	UTSW	9	39,750,769 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGACACCTGCATTGACCATC -3'
(R):5'- TGCACAGGAAAGCATCATGATATTC -3'

Sequencing Primer
(F):5'- CGTATTCGCTCCACTGAGG -3'
(R):5'- GAATCTGCCACGTTCATC -3'

Posted On

2021-07-15