Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01358:Or56b1b'

75592

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or56b1b

Ensembl Gene

ENSMUSG00000060105

Gene Name

olfactory receptor family 56 subfamily B member 1B

Synonyms

MOR40-15, MOR40-7P, Olfr504, GA_x6K02T2PBJ9-10895499-10894543

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL01358

Quality Score

Status

Chromosome

Chromosomal Location

108164044-108165000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108164409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 198 (R198W)

Ref Sequence

ENSEMBL: ENSMUSP00000075025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075595]

AlphaFold

Q7TRU7

Predicted Effect

probably benign
Transcript: ENSMUST00000075595
AA Change: R198W

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000075025
Gene: ENSMUSG00000060105
AA Change: R198W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	3.9e-70	PFAM
Pfam:7TM_GPCR_Srsx	40	311	5.1e-10	PFAM
Pfam:7tm_1	47	296	3.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207240

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,335,579 (GRCm39)	Y316C	probably damaging	Het
Atp6v0a4	T	G	6: 38,051,145 (GRCm39)	D411A	probably damaging	Het
Calr3	A	T	8: 73,181,057 (GRCm39)	Y178*	probably null	Het
Ces1e	A	G	8: 93,940,778 (GRCm39)	L298P	probably damaging	Het
Clk3	T	C	9: 57,661,875 (GRCm39)	T391A	probably damaging	Het
Cr2	A	G	1: 194,842,128 (GRCm39)	I275T	probably damaging	Het
Cul9	G	T	17: 46,849,240 (GRCm39)	P635H	probably damaging	Het
Dhx33	G	A	11: 70,884,687 (GRCm39)	Q40*	probably null	Het
Dscam	A	T	16: 96,411,543 (GRCm39)	S1778T	possibly damaging	Het
Dsg2	T	A	18: 20,734,850 (GRCm39)	Y943N	probably damaging	Het
Eml1	A	T	12: 108,480,727 (GRCm39)	T398S	probably benign	Het
Epha3	G	A	16: 63,416,109 (GRCm39)		probably benign	Het
Hacl1	A	T	14: 31,348,374 (GRCm39)	M200K	probably benign	Het
Ighmbp2	T	A	19: 3,318,817 (GRCm39)	S420C	probably damaging	Het
Kcnt1	T	A	2: 25,806,017 (GRCm39)	I1200N	probably damaging	Het
Kctd21	T	A	7: 96,996,581 (GRCm39)	L18Q	probably damaging	Het
Krt78	A	C	15: 101,854,698 (GRCm39)	S1038A	probably benign	Het
Lrp2	C	A	2: 69,382,814 (GRCm39)		probably benign	Het
Lrrc41	T	A	4: 115,932,784 (GRCm39)	V60D	probably benign	Het
Mafk	T	C	5: 139,786,248 (GRCm39)	S149P	probably damaging	Het
Mest	T	A	6: 30,746,330 (GRCm39)		probably benign	Het
Nlrp1b	G	A	11: 71,072,682 (GRCm39)	T387I	possibly damaging	Het
Notch3	C	T	17: 32,363,721 (GRCm39)	D1140N	probably damaging	Het
Nxph2	A	G	2: 23,290,086 (GRCm39)	N146S	probably damaging	Het
Olfm1	T	C	2: 28,119,507 (GRCm39)	C381R	probably damaging	Het
Or5p81	C	T	7: 108,266,869 (GRCm39)	P82L	possibly damaging	Het
Parp11	C	T	6: 127,448,526 (GRCm39)	Q48*	probably null	Het
Pgc	T	C	17: 48,041,591 (GRCm39)	V175A	probably benign	Het
Pira12	A	G	7: 3,898,686 (GRCm39)	V254A	probably benign	Het
Plxna1	G	T	6: 89,299,732 (GRCm39)	T1679N	probably damaging	Het
Pnpt1	G	T	11: 29,088,425 (GRCm39)	L229F	possibly damaging	Het
Ppp1r12b	A	T	1: 134,819,897 (GRCm39)	L282Q	probably damaging	Het
Rag2	C	A	2: 101,460,365 (GRCm39)	A225D	possibly damaging	Het
Ralgps1	T	C	2: 33,033,061 (GRCm39)	D456G	possibly damaging	Het
Rasgrf2	T	A	13: 92,130,749 (GRCm39)	T170S	probably benign	Het
Rel	C	T	11: 23,711,155 (GRCm39)	S4N	probably benign	Het
Rims3	C	T	4: 120,748,700 (GRCm39)	S307F	possibly damaging	Het
Rnf123	A	G	9: 107,946,381 (GRCm39)	L290P	probably damaging	Het
Rtn4r	G	T	16: 17,969,260 (GRCm39)	M229I	possibly damaging	Het
Rusc2	G	A	4: 43,426,116 (GRCm39)	R1407Q	probably damaging	Het
Sec23ip	A	T	7: 128,354,521 (GRCm39)	Q259L	possibly damaging	Het
Slc24a4	G	A	12: 102,189,894 (GRCm39)	C204Y	probably benign	Het
Slc27a3	T	C	3: 90,293,859 (GRCm39)	T542A	probably damaging	Het
Smarcal1	A	T	1: 72,655,724 (GRCm39)	I668F	possibly damaging	Het
Snap91	C	A	9: 86,688,613 (GRCm39)	V311F	probably damaging	Het
Sp8	T	A	12: 118,812,705 (GRCm39)	S187T	probably damaging	Het
Tcerg1	T	C	18: 42,657,342 (GRCm39)	S275P	unknown	Het
Vwce	T	A	19: 10,641,773 (GRCm39)	V833D	possibly damaging	Het
Zbtb8b	A	G	4: 129,327,052 (GRCm39)	S38P	probably damaging	Het
Zfp598	T	C	17: 24,900,398 (GRCm39)		probably benign	Het
Zkscan4	G	A	13: 21,668,475 (GRCm39)	E309K	possibly damaging	Het

Other mutations in Or56b1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01447:Or56b1b	APN	7	108,164,216 (GRCm39)	missense	possibly damaging	0.75
IGL01845:Or56b1b	APN	7	108,164,343 (GRCm39)	missense	possibly damaging	0.76
IGL02110:Or56b1b	APN	7	108,164,286 (GRCm39)	missense	probably damaging	1.00
IGL03196:Or56b1b	APN	7	108,164,061 (GRCm39)	missense	probably benign
R0282:Or56b1b	UTSW	7	108,164,684 (GRCm39)	missense	probably damaging	1.00
R0359:Or56b1b	UTSW	7	108,164,721 (GRCm39)	missense	probably benign	0.01
R0514:Or56b1b	UTSW	7	108,164,879 (GRCm39)	missense	probably damaging	1.00
R0727:Or56b1b	UTSW	7	108,164,315 (GRCm39)	missense	probably benign	0.00
R0744:Or56b1b	UTSW	7	108,164,205 (GRCm39)	missense	possibly damaging	0.57
R0836:Or56b1b	UTSW	7	108,164,205 (GRCm39)	missense	possibly damaging	0.57
R0840:Or56b1b	UTSW	7	108,164,823 (GRCm39)	missense	probably benign	0.00
R0883:Or56b1b	UTSW	7	108,164,483 (GRCm39)	missense	probably benign	0.01
R1750:Or56b1b	UTSW	7	108,164,564 (GRCm39)	nonsense	probably null
R1827:Or56b1b	UTSW	7	108,164,282 (GRCm39)	missense	probably benign	0.35
R1933:Or56b1b	UTSW	7	108,164,730 (GRCm39)	missense	possibly damaging	0.57
R3004:Or56b1b	UTSW	7	108,164,151 (GRCm39)	missense	probably benign	0.42
R3766:Or56b1b	UTSW	7	108,164,402 (GRCm39)	missense	probably benign	0.00
R5179:Or56b1b	UTSW	7	108,164,433 (GRCm39)	missense	probably benign
R5408:Or56b1b	UTSW	7	108,164,376 (GRCm39)	missense	probably damaging	0.99
R5493:Or56b1b	UTSW	7	108,164,774 (GRCm39)	missense	probably benign	0.24
R5569:Or56b1b	UTSW	7	108,164,772 (GRCm39)	missense	probably benign	0.01
R6520:Or56b1b	UTSW	7	108,164,046 (GRCm39)	makesense	probably null
R6798:Or56b1b	UTSW	7	108,164,967 (GRCm39)	nonsense	probably null
R6803:Or56b1b	UTSW	7	108,164,620 (GRCm39)	missense	probably damaging	1.00
R7242:Or56b1b	UTSW	7	108,164,919 (GRCm39)	missense	probably benign	0.03
R7559:Or56b1b	UTSW	7	108,164,763 (GRCm39)	missense	probably damaging	0.99
R7644:Or56b1b	UTSW	7	108,164,649 (GRCm39)	missense	possibly damaging	0.78
R8498:Or56b1b	UTSW	7	108,164,833 (GRCm39)	nonsense	probably null
R8970:Or56b1b	UTSW	7	108,164,997 (GRCm39)	missense	probably benign	0.00
R9014:Or56b1b	UTSW	7	108,164,882 (GRCm39)	missense	possibly damaging	0.63
R9093:Or56b1b	UTSW	7	108,164,454 (GRCm39)	missense	probably damaging	1.00
R9103:Or56b1b	UTSW	7	108,164,780 (GRCm39)	missense	probably benign	0.02
R9548:Or56b1b	UTSW	7	108,164,334 (GRCm39)	missense	possibly damaging	0.75

Posted On

2013-10-07