Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02357:Or2b7'

290581

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2b7

Ensembl Gene

ENSMUSG00000054890

Gene Name

olfactory receptor family 2 subfamily B member 7

Synonyms

MOR256-63, Olfr1535, Olfr1365, MOR256-36, MOR256-36, GA_x6K02T2QHY8-11688984-11689964

Accession Numbers

Essential gene?

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

Stock #

IGL02357

Quality Score

Status

Chromosome

Chromosomal Location

21739210-21740190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21739772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 140 (L140P)

Ref Sequence

ENSEMBL: ENSMUSP00000149589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068163] [ENSMUST00000217519]

AlphaFold

Q7TQU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000068163
AA Change: L140P

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

SMART Domains

Protein: ENSMUSP00000064142
Gene: ENSMUSG00000054890
AA Change: L140P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	320	5.4e-46	PFAM
Pfam:7tm_1	41	302	1.3e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217519
AA Change: L140P

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	G	8: 71,914,121 (GRCm39)	V169A	probably benign	Het
Adamts16	T	A	13: 70,886,704 (GRCm39)	T1029S	probably benign	Het
Adgrv1	C	A	13: 81,418,974 (GRCm39)	C6007F	probably benign	Het
Ak8	A	T	2: 28,590,225 (GRCm39)	H8L	probably benign	Het
Apol7b	A	G	15: 77,307,832 (GRCm39)	V221A	probably benign	Het
BC005624	G	A	2: 30,863,779 (GRCm39)	P235S	probably benign	Het
Casp9	C	A	4: 141,532,783 (GRCm39)	D226E	probably benign	Het
Cd96	A	G	16: 45,890,139 (GRCm39)		probably benign	Het
Celf1	A	T	2: 90,828,933 (GRCm39)	K27I	probably damaging	Het
Cfap65	A	T	1: 74,967,507 (GRCm39)	C190*	probably null	Het
Cib2	A	T	9: 54,457,170 (GRCm39)	H31Q	probably damaging	Het
Cyp3a59	T	C	5: 146,016,152 (GRCm39)	L3P	probably damaging	Het
Dnajc13	T	C	9: 104,039,558 (GRCm39)	M2104V	possibly damaging	Het
Emb	A	G	13: 117,386,007 (GRCm39)		probably benign	Het
Fbn2	G	T	18: 58,237,067 (GRCm39)	N645K	possibly damaging	Het
Fes	T	C	7: 80,033,578 (GRCm39)		probably null	Het
Flnc	A	T	6: 29,438,492 (GRCm39)	K129*	probably null	Het
Gckr	C	A	5: 31,465,134 (GRCm39)	H368N	possibly damaging	Het
Gm5145	A	T	17: 20,790,702 (GRCm39)	I27F	probably damaging	Het
Hecw1	A	G	13: 14,422,923 (GRCm39)		probably null	Het
Hook2	C	T	8: 85,721,614 (GRCm39)	Q291*	probably null	Het
Jakmip2	T	C	18: 43,680,192 (GRCm39)	T722A	possibly damaging	Het
Kcnt2	A	G	1: 140,279,007 (GRCm39)	I53V	probably benign	Het
Lipo2	A	G	19: 33,708,348 (GRCm39)	L222P	possibly damaging	Het
Mrc2	A	G	11: 105,216,547 (GRCm39)	D112G	probably damaging	Het
Mroh2b	A	G	15: 4,941,482 (GRCm39)	N338S	probably benign	Het
Mrpl23	T	A	7: 142,089,802 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,741,073 (GRCm39)	N1442S	probably benign	Het
Ngdn	T	A	14: 55,259,393 (GRCm39)	V179E	probably damaging	Het
Nxn	A	G	11: 76,165,480 (GRCm39)		probably benign	Het
Or10am5	T	A	7: 6,518,225 (GRCm39)	M68L	probably damaging	Het
Osmr	A	T	15: 6,858,144 (GRCm39)	N441K	probably benign	Het
Plcb3	A	C	19: 6,935,546 (GRCm39)	L789R	probably damaging	Het
Plek	C	T	11: 16,931,846 (GRCm39)	R335H	probably damaging	Het
Pmp22	G	T	11: 63,049,134 (GRCm39)	V126F	probably benign	Het
Prom1	A	G	5: 44,186,946 (GRCm39)		probably benign	Het
Prss1	C	A	6: 41,440,139 (GRCm39)	Q159K	probably damaging	Het
Psd3	G	T	8: 68,416,521 (GRCm39)	H459N	probably benign	Het
Rusc2	T	G	4: 43,425,351 (GRCm39)	V1152G	possibly damaging	Het
Slc16a4	A	G	3: 107,210,415 (GRCm39)	I362V	probably benign	Het
Slc22a22	A	G	15: 57,110,844 (GRCm39)	V461A	probably benign	Het
Slc35e4	C	T	11: 3,862,640 (GRCm39)	R183Q	probably benign	Het
Spen	T	C	4: 141,204,890 (GRCm39)	T1246A	unknown	Het
Syt16	T	C	12: 74,313,616 (GRCm39)	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,559,735 (GRCm39)	V79A	possibly damaging	Het
Tpgs1	A	G	10: 79,511,593 (GRCm39)	D245G	probably benign	Het
Ttn	A	G	2: 76,539,963 (GRCm39)	V34341A	probably benign	Het
Vxn	T	C	1: 9,683,544 (GRCm39)	I44T	possibly damaging	Het
Wwox	T	C	8: 115,438,882 (GRCm39)	V316A	possibly damaging	Het

Other mutations in Or2b7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Or2b7	APN	13	21,739,389 (GRCm39)	missense	probably damaging	0.98
IGL01866:Or2b7	APN	13	21,739,343 (GRCm39)	missense	probably benign	0.07
IGL02289:Or2b7	APN	13	21,739,758 (GRCm39)	missense	probably benign	0.02
IGL02350:Or2b7	APN	13	21,739,772 (GRCm39)	missense	probably damaging	1.00
IGL02793:Or2b7	APN	13	21,740,172 (GRCm39)	missense	probably damaging	1.00
IGL02875:Or2b7	APN	13	21,740,172 (GRCm39)	missense	probably damaging	1.00
R0785:Or2b7	UTSW	13	21,739,958 (GRCm39)	missense	probably benign	0.02
R1773:Or2b7	UTSW	13	21,739,982 (GRCm39)	missense	probably damaging	1.00
R3429:Or2b7	UTSW	13	21,739,975 (GRCm39)	nonsense	probably null
R3430:Or2b7	UTSW	13	21,739,975 (GRCm39)	nonsense	probably null
R4232:Or2b7	UTSW	13	21,739,631 (GRCm39)	missense	probably damaging	0.98
R4883:Or2b7	UTSW	13	21,739,658 (GRCm39)	missense	probably benign	0.22
R5586:Or2b7	UTSW	13	21,739,266 (GRCm39)	missense	probably damaging	1.00
R6032:Or2b7	UTSW	13	21,740,077 (GRCm39)	missense	probably benign	0.01
R6032:Or2b7	UTSW	13	21,740,077 (GRCm39)	missense	probably benign	0.01
R6542:Or2b7	UTSW	13	21,739,677 (GRCm39)	missense	probably damaging	0.99
R7014:Or2b7	UTSW	13	21,740,108 (GRCm39)	missense	probably benign	0.02
R7579:Or2b7	UTSW	13	21,740,176 (GRCm39)	missense	probably benign	0.08
R7598:Or2b7	UTSW	13	21,739,358 (GRCm39)	missense	probably damaging	1.00
R7982:Or2b7	UTSW	13	21,740,136 (GRCm39)	missense	probably benign
R8239:Or2b7	UTSW	13	21,739,788 (GRCm39)	missense	probably benign	0.01
R8339:Or2b7	UTSW	13	21,739,996 (GRCm39)	missense	probably damaging	0.99
R8698:Or2b7	UTSW	13	21,739,890 (GRCm39)	missense	probably damaging	1.00
R8956:Or2b7	UTSW	13	21,740,169 (GRCm39)	missense	probably benign	0.00
R8977:Or2b7	UTSW	13	21,740,016 (GRCm39)	missense	possibly damaging	0.57
RF051:Or2b7	UTSW	13	21,739,693 (GRCm39)	frame shift	probably null

Posted On

2015-04-16