Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02604:Or8b40'

300163

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8b40

Ensembl Gene

ENSMUSG00000096356

Gene Name

olfactory receptor family 8 subfamily B member 40

Synonyms

GA_x6K02T2PVTD-31795028-31795957, Olfr889, MOR162-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL02604

Quality Score

Status

Chromosome

Chromosomal Location

38027094-38028023 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 38027148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 19 (Q19*)

Ref Sequence

ENSEMBL: ENSMUSP00000148913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072290] [ENSMUST00000211851] [ENSMUST00000217286]

AlphaFold

L7N1Y6

Predicted Effect

probably null
Transcript: ENSMUST00000072290
AA Change: Q24*

SMART Domains

Protein: ENSMUSP00000072137
Gene: ENSMUSG00000096356
AA Change: Q24*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	36	311	4.4e-50	PFAM
Pfam:7tm_1	46	293	1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213042
AA Change: Q19*

Predicted Effect

probably null
Transcript: ENSMUST00000217286
AA Change: Q19*

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,878,845 (GRCm39)	V61A	probably benign	Het
Arfgef1	G	A	1: 10,251,275 (GRCm39)		probably benign	Het
Arhgef4	T	A	1: 34,850,804 (GRCm39)	L594*	probably null	Het
Cacna2d3	T	C	14: 29,015,066 (GRCm39)	T375A	possibly damaging	Het
Calb2	A	C	8: 110,875,160 (GRCm39)	Y155D	probably damaging	Het
Camkmt	A	G	17: 85,404,053 (GRCm39)	T92A	possibly damaging	Het
Cfap91	A	G	16: 38,141,921 (GRCm39)		probably benign	Het
Chsy3	A	G	18: 59,542,187 (GRCm39)	S442G	probably benign	Het
Cyp4f13	T	C	17: 33,151,395 (GRCm39)	I173V	probably benign	Het
Dapk1	A	G	13: 60,896,134 (GRCm39)	T741A	probably benign	Het
Dennd3	T	C	15: 73,428,252 (GRCm39)	I866T	probably damaging	Het
Dhrs2	A	T	14: 55,474,778 (GRCm39)	I138F	possibly damaging	Het
Dscaml1	C	T	9: 45,655,626 (GRCm39)		probably benign	Het
Fsbp	A	G	4: 11,584,147 (GRCm39)	E282G	probably damaging	Het
Hpgds	A	T	6: 65,100,594 (GRCm39)	L128Q	probably damaging	Het
Hspa9	A	G	18: 35,087,266 (GRCm39)	V13A	unknown	Het
Itgb3	A	G	11: 104,553,269 (GRCm39)	E709G	probably damaging	Het
Jarid2	T	C	13: 45,027,877 (GRCm39)	S148P	probably damaging	Het
Kcna6	C	T	6: 126,716,167 (GRCm39)	G241R	probably benign	Het
Kdm5a	T	A	6: 120,408,941 (GRCm39)	N1541K	probably benign	Het
Kel	C	A	6: 41,664,516 (GRCm39)	E640D	probably damaging	Het
Lcp1	A	T	14: 75,461,566 (GRCm39)	I520F	probably benign	Het
Lgr4	A	G	2: 109,841,658 (GRCm39)	I524V	probably damaging	Het
Mup20	A	C	4: 61,970,141 (GRCm39)	Y139D	probably damaging	Het
Notch4	T	C	17: 34,784,362 (GRCm39)		probably null	Het
Obox7	A	G	7: 14,399,293 (GRCm39)	E173G	probably benign	Het
Or10a49	T	A	7: 108,467,857 (GRCm39)	Y168F	probably benign	Het
Or2a25	T	A	6: 42,888,992 (GRCm39)	C178*	probably null	Het
Or5w22	A	T	2: 87,362,949 (GRCm39)	T191S	probably damaging	Het
Or9i1	T	A	19: 13,839,170 (GRCm39)	N4K	probably benign	Het
Patl2	T	G	2: 121,955,814 (GRCm39)	T241P	possibly damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Plekhg6	T	C	6: 125,354,342 (GRCm39)		probably benign	Het
Pon1	C	A	6: 5,168,375 (GRCm39)	G344V	probably damaging	Het
Ppp1r21	G	T	17: 88,880,171 (GRCm39)	K529N	probably benign	Het
Prdm15	A	G	16: 97,623,142 (GRCm39)	S203P	probably benign	Het
Psmc2	T	A	5: 22,000,098 (GRCm39)		probably null	Het
Ptn	T	C	6: 36,692,653 (GRCm39)	M166V	unknown	Het
Ptpn13	A	G	5: 103,649,769 (GRCm39)	N391D	probably benign	Het
Rnf214	A	G	9: 45,780,841 (GRCm39)	S383P	probably damaging	Het
Rufy4	T	A	1: 74,173,348 (GRCm39)	L438H	probably damaging	Het
Scarf2	A	G	16: 17,621,608 (GRCm39)	T353A	probably damaging	Het
Serpinb9e	A	C	13: 33,441,742 (GRCm39)	I225L	probably benign	Het
Slc25a40	T	C	5: 8,503,219 (GRCm39)	V312A	probably benign	Het
Tmc3	A	G	7: 83,271,827 (GRCm39)	Y993C	possibly damaging	Het
Trim56	A	C	5: 137,141,930 (GRCm39)	C529G	probably damaging	Het
Trim8	T	C	19: 46,503,917 (GRCm39)	S490P	probably damaging	Het
Trmt6	A	T	2: 132,652,357 (GRCm39)	Y147*	probably null	Het
Vmn2r109	T	A	17: 20,760,963 (GRCm39)	H798L	probably damaging	Het
Vps35	A	G	8: 86,013,018 (GRCm39)	L153P	probably damaging	Het
Wdr82	T	C	9: 106,060,880 (GRCm39)	I131T	probably damaging	Het
Zfp69	A	T	4: 120,788,660 (GRCm39)	D218E	probably benign	Het

Other mutations in Or8b40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02201:Or8b40	APN	9	38,027,893 (GRCm39)	missense	probably benign	0.02
IGL02727:Or8b40	APN	9	38,027,808 (GRCm39)	missense	probably damaging	0.99
R0364:Or8b40	UTSW	9	38,027,325 (GRCm39)	missense	probably benign	0.26
R0387:Or8b40	UTSW	9	38,027,066 (GRCm39)	splice site	probably null
R0409:Or8b40	UTSW	9	38,027,547 (GRCm39)	missense	probably benign
R0515:Or8b40	UTSW	9	38,027,313 (GRCm39)	missense	probably damaging	1.00
R0693:Or8b40	UTSW	9	38,027,325 (GRCm39)	missense	probably benign	0.26
R1554:Or8b40	UTSW	9	38,027,230 (GRCm39)	missense	probably benign	0.01
R1972:Or8b40	UTSW	9	38,027,863 (GRCm39)	missense	possibly damaging	0.79
R1973:Or8b40	UTSW	9	38,027,863 (GRCm39)	missense	possibly damaging	0.79
R3815:Or8b40	UTSW	9	38,027,922 (GRCm39)	missense	possibly damaging	0.94
R3816:Or8b40	UTSW	9	38,027,922 (GRCm39)	missense	possibly damaging	0.94
R3817:Or8b40	UTSW	9	38,027,922 (GRCm39)	missense	possibly damaging	0.94
R3819:Or8b40	UTSW	9	38,027,922 (GRCm39)	missense	possibly damaging	0.94
R5532:Or8b40	UTSW	9	38,027,923 (GRCm39)	missense	probably benign	0.12
R5775:Or8b40	UTSW	9	38,027,423 (GRCm39)	missense	probably damaging	1.00
R5931:Or8b40	UTSW	9	38,027,670 (GRCm39)	missense	probably benign	0.00
R6458:Or8b40	UTSW	9	38,027,350 (GRCm39)	missense	possibly damaging	0.90
R6751:Or8b40	UTSW	9	38,027,271 (GRCm39)	missense	probably damaging	1.00
R7168:Or8b40	UTSW	9	38,027,959 (GRCm39)	missense	probably damaging	1.00
R7673:Or8b40	UTSW	9	38,027,523 (GRCm39)	missense	probably benign	0.00
R7698:Or8b40	UTSW	9	38,027,188 (GRCm39)	nonsense	probably null
R8432:Or8b40	UTSW	9	38,027,272 (GRCm39)	missense	probably damaging	1.00
R9034:Or8b40	UTSW	9	38,027,550 (GRCm39)	missense	possibly damaging	0.83
R9236:Or8b40	UTSW	9	38,027,496 (GRCm39)	missense	possibly damaging	0.47
R9561:Or8b40	UTSW	9	38,028,010 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16