Mutagenetix > Incidental Mutation

Incidental Mutation 'R9079:Or8g2b'

689901

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

MMRRC Submission

068899-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9079 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39750732-39751655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39750769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 13 (I13N)

Ref Sequence

ENSEMBL: ENSMUSP00000148850 (fasta)

Gene Model

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

AlphaFold

Q9EQ96

Predicted Effect

probably benign
Transcript: ENSMUST00000075467
AA Change: I13N

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000074913
Gene: ENSMUSG00000093934
AA Change: I13N

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 benign
Transcript: ENSMUST00000214242
AA Change: I13N

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (51/52)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2	A	T	15: 57,989,223 (GRCm39)	S212R	probably benign	Het
Bcl9	A	T	3: 97,112,816 (GRCm39)	V1213E	probably damaging	Het
Brd1	T	C	15: 88,598,153 (GRCm39)	D531G	probably damaging	Het
Cd1d1	T	A	3: 86,906,197 (GRCm39)	Y26F	probably benign	Het
Cep83	T	C	10: 94,564,541 (GRCm39)	F160S	possibly damaging	Het
Cfap61	G	T	2: 145,781,859 (GRCm39)	V31F	probably benign	Het
Cox11	G	A	11: 90,535,246 (GRCm39)	M232I	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cubn	A	G	2: 13,291,914 (GRCm39)	S3304P	probably benign	Het
Eif4b	T	A	15: 102,003,177 (GRCm39)	D549E	unknown	Het
Extl1	T	A	4: 134,089,975 (GRCm39)	N378Y	probably damaging	Het
Fbxo4	C	T	15: 3,998,388 (GRCm39)		probably null	Het
Fhip1a	C	A	3: 85,579,590 (GRCm39)	G872*	probably null	Het
G430095P16Rik	A	T	8: 85,453,412 (GRCm39)	H133L	unknown	Het
Gm8138	A	T	14: 43,272,502 (GRCm39)	N104K		Het
Gzma	A	G	13: 113,232,858 (GRCm39)	F78S	probably benign	Het
Hars2	T	C	18: 36,923,190 (GRCm39)	S400P	possibly damaging	Het
Hnrnpm	G	T	17: 33,868,775 (GRCm39)	R551S	probably damaging	Het
Htr5b	T	A	1: 121,455,816 (GRCm39)	T35S	probably benign	Het
Jak3	A	C	8: 72,131,898 (GRCm39)	E158A	probably benign	Het
Kctd16	A	G	18: 40,390,080 (GRCm39)		probably benign	Het
Kdm4c	C	A	4: 74,277,738 (GRCm39)	D797E	probably benign	Het
Klhl31	T	A	9: 77,558,151 (GRCm39)	V289E	probably damaging	Het
Loxhd1	T	C	18: 77,490,593 (GRCm39)	S1398P	probably benign	Het
Matn4	A	T	2: 164,235,473 (GRCm39)		probably benign	Het
Mrps28	A	G	3: 8,867,308 (GRCm39)	*187Q	probably null	Het
Myh7b	G	A	2: 155,465,174 (GRCm39)	V677I	probably damaging	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Notch3	A	T	17: 32,383,033 (GRCm39)		probably benign	Het
Nr1h2	C	A	7: 44,199,430 (GRCm39)	E440D	possibly damaging	Het
Or1l4b	T	C	2: 37,036,989 (GRCm39)	V255A	probably damaging	Het
Or6c207	A	T	10: 129,104,466 (GRCm39)	M242K	possibly damaging	Het
Or7g16	A	T	9: 18,726,731 (GRCm39)	N286K	probably damaging	Het
Osbpl9	A	T	4: 108,920,644 (GRCm39)	V543D	possibly damaging	Het
Pcgf6	T	C	19: 47,039,053 (GRCm39)	E69G	possibly damaging	Het
Piezo2	A	G	18: 63,157,537 (GRCm39)	L2391P	probably damaging	Het
Rcn2	T	A	9: 55,952,393 (GRCm39)		probably benign	Het
Ripor2	G	A	13: 24,915,637 (GRCm39)	R1069H	probably benign	Het
Ro60	A	C	1: 143,641,519 (GRCm39)	L314R	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Senp5	A	T	16: 31,787,718 (GRCm39)	I635N	probably damaging	Het
Slc30a9	A	T	5: 67,484,241 (GRCm39)	K126M	possibly damaging	Het
Slc9b2	A	T	3: 135,042,150 (GRCm39)	R476S	probably damaging	Het
Sptb	G	T	12: 76,677,454 (GRCm39)	R127S	probably damaging	Het
Svil	T	C	18: 5,056,308 (GRCm39)	S394P	probably benign	Het
Tjp1	A	T	7: 64,950,966 (GRCm39)	I1636N	possibly damaging	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Trio	T	C	15: 27,733,023 (GRCm39)	I2953V	possibly damaging	Het
Ttn	A	G	2: 76,632,734 (GRCm39)	F14107L	probably damaging	Het
Usp20	A	G	2: 30,895,120 (GRCm39)		probably benign	Het
Vmn1r123	A	T	7: 20,896,979 (GRCm39)	L290F	probably benign	Het
Vmn1r202	T	C	13: 22,685,602 (GRCm39)	M272V	probably benign	Het
Vmn2r97	A	T	17: 19,149,640 (GRCm39)	N343Y	probably benign	Het
Wdr90	A	T	17: 26,076,403 (GRCm39)	W45R		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
R8851:Or8g2b	UTSW	9	39,751,600 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTGTCCCAAGGAAACAGGAG -3'
(R):5'- AGCTGGGTCATGCATTCAGG -3'

Sequencing Primer
(F):5'- TCCCAAGGAAACAGGAGAGTCTTG -3'
(R):5'- CAACAGCATTTTAGGGGTAATGAC -3'

Posted On

2021-11-19