Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02408:Or8b50'

292161

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8b50

Ensembl Gene

ENSMUSG00000047050

Gene Name

olfactory receptor family 8 subfamily B member 50

Synonyms

Olfr914, MOR165-7, GA_x6K02T2PVTD-32308823-32309773

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL02408

Quality Score

Status

Chromosome

Chromosomal Location

38517763-38518713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38518417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 219 (G219S)

Ref Sequence

ENSEMBL: ENSMUSP00000150241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057755] [ENSMUST00000217057]

AlphaFold

E9PW59

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057755
AA Change: G219S

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000053405
Gene: ENSMUSG00000047050
AA Change: G219S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	310	1.1e-48	PFAM
Pfam:7tm_1	41	290	5.2e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217057
AA Change: G219S

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,621,130 (GRCm39)	Y278C	probably damaging	Het
Abcd2	A	G	15: 91,062,444 (GRCm39)	L498P	possibly damaging	Het
Acot11	A	G	4: 106,615,578 (GRCm39)	F271S	probably damaging	Het
Acr	T	A	15: 89,454,217 (GRCm39)	Y185N	probably damaging	Het
Adcy10	C	T	1: 165,365,949 (GRCm39)	R489C	probably damaging	Het
Arsb	A	G	13: 93,930,670 (GRCm39)	T213A	probably benign	Het
Atg2a	T	A	19: 6,291,858 (GRCm39)	C11*	probably null	Het
B3galt6	A	T	4: 156,076,152 (GRCm39)	Y308N	probably damaging	Het
Cd226	A	G	18: 89,225,451 (GRCm39)	N116S	probably benign	Het
Crat	T	A	2: 30,297,146 (GRCm39)	D269V	probably damaging	Het
Crim1	T	A	17: 78,623,083 (GRCm39)	I427N	possibly damaging	Het
Dock3	T	C	9: 106,790,298 (GRCm39)		probably benign	Het
Dsg1c	T	A	18: 20,407,776 (GRCm39)	V374E	probably damaging	Het
Dtl	A	G	1: 191,273,352 (GRCm39)	S519P	probably benign	Het
Fastkd1	C	T	2: 69,532,945 (GRCm39)	R474H	probably benign	Het
Fbxo10	T	C	4: 45,058,361 (GRCm39)	T459A	possibly damaging	Het
Frmd4b	A	G	6: 97,272,770 (GRCm39)	L828P	probably damaging	Het
Gc	T	C	5: 89,593,255 (GRCm39)	S55G	probably benign	Het
Gm6455	T	G	5: 10,917,257 (GRCm39)		noncoding transcript	Het
Gnai2	T	C	9: 107,493,393 (GRCm39)	T280A	probably benign	Het
Hmgn2	A	G	4: 133,693,260 (GRCm39)		probably null	Het
Jmjd1c	G	T	10: 67,062,161 (GRCm39)	A1505S	probably benign	Het
Lrriq1	T	C	10: 102,982,142 (GRCm39)	K1393E	probably benign	Het
Mcam	A	G	9: 44,051,547 (GRCm39)	N469D	probably benign	Het
Mrpl47	A	G	3: 32,790,789 (GRCm39)		probably null	Het
Mslnl	C	T	17: 25,966,972 (GRCm39)	A659V	possibly damaging	Het
Nlrp1a	A	G	11: 71,013,456 (GRCm39)	V598A	probably benign	Het
Npff	A	T	15: 102,433,000 (GRCm39)	L15Q	probably null	Het
Obsl1	G	T	1: 75,481,890 (GRCm39)	Q327K	probably damaging	Het
Or13a18	T	C	7: 140,190,844 (GRCm39)	V255A	probably damaging	Het
Or4c58	T	A	2: 89,675,315 (GRCm39)	M1L	probably benign	Het
Or52s1b	T	C	7: 102,822,658 (GRCm39)	Y62C	probably damaging	Het
Or7e165	A	T	9: 19,694,711 (GRCm39)	Y94F	probably benign	Het
Pdzd2	T	A	15: 12,375,851 (GRCm39)	H1428L	probably benign	Het
Phldb1	T	C	9: 44,627,203 (GRCm39)	E414G	possibly damaging	Het
Reln	T	C	5: 22,106,617 (GRCm39)	D3251G	probably benign	Het
Secisbp2l	G	T	2: 125,582,789 (GRCm39)	S889*	probably null	Het
Setx	T	A	2: 29,023,942 (GRCm39)	C133S	probably damaging	Het
Slc22a29	A	C	19: 8,184,649 (GRCm39)	S214A	probably benign	Het
Slc30a5	A	C	13: 100,950,232 (GRCm39)	L285R	probably damaging	Het
Taar7a	T	G	10: 23,868,500 (GRCm39)	I294L	probably benign	Het
Tfap2b	T	A	1: 19,304,485 (GRCm39)	F414I	probably damaging	Het
Trpc4ap	A	T	2: 155,512,989 (GRCm39)	Y129N	possibly damaging	Het
Vmn2r94	T	C	17: 18,473,523 (GRCm39)	E501G	probably benign	Het
Xpot	T	C	10: 121,439,070 (GRCm39)	H709R	probably damaging	Het
Zfhx3	T	A	8: 109,682,004 (GRCm39)		probably benign	Het
Zscan22	T	G	7: 12,640,426 (GRCm39)	H223Q	probably benign	Het

Other mutations in Or8b50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Or8b50	APN	9	38,517,850 (GRCm39)	missense	probably null	0.00
IGL01758:Or8b50	APN	9	38,518,589 (GRCm39)	missense	probably damaging	0.99
IGL02003:Or8b50	APN	9	38,518,136 (GRCm39)	missense	probably damaging	1.00
IGL02203:Or8b50	APN	9	38,518,719 (GRCm39)	utr 3 prime	probably benign
IGL02233:Or8b50	APN	9	38,518,538 (GRCm39)	missense	probably damaging	1.00
IGL02882:Or8b50	APN	9	38,518,234 (GRCm39)	missense	probably benign	0.04
IGL03081:Or8b50	APN	9	38,518,166 (GRCm39)	missense	probably benign	0.01
IGL03088:Or8b50	APN	9	38,518,597 (GRCm39)	missense	probably damaging	0.99
IGL03177:Or8b50	APN	9	38,517,867 (GRCm39)	nonsense	probably null
IGL03219:Or8b50	APN	9	38,518,247 (GRCm39)	missense	probably benign	0.28
P0023:Or8b50	UTSW	9	38,517,941 (GRCm39)	missense	probably damaging	1.00
R0630:Or8b50	UTSW	9	38,518,192 (GRCm39)	missense	probably benign	0.01
R0948:Or8b50	UTSW	9	38,517,787 (GRCm39)	missense	possibly damaging	0.65
R1451:Or8b50	UTSW	9	38,518,234 (GRCm39)	missense	probably benign	0.04
R1681:Or8b50	UTSW	9	38,518,244 (GRCm39)	missense	probably damaging	0.99
R2402:Or8b50	UTSW	9	38,518,397 (GRCm39)	missense	probably benign	0.02
R5854:Or8b50	UTSW	9	38,517,959 (GRCm39)	missense	probably damaging	1.00
R6857:Or8b50	UTSW	9	38,518,307 (GRCm39)	missense	probably benign	0.07
R7452:Or8b50	UTSW	9	38,518,384 (GRCm39)	missense	probably benign	0.34
R7838:Or8b50	UTSW	9	38,517,708 (GRCm39)	start gained	probably benign
R8039:Or8b50	UTSW	9	38,518,685 (GRCm39)	missense	probably benign
R8489:Or8b50	UTSW	9	38,518,232 (GRCm39)	missense	probably benign	0.07
R8768:Or8b50	UTSW	9	38,518,441 (GRCm39)	missense	probably benign	0.01
R9373:Or8b50	UTSW	9	38,518,142 (GRCm39)	missense	possibly damaging	0.91
R9380:Or8b50	UTSW	9	38,518,415 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16