Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01613:Or8b50'

92242

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: 0.053) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

38517763-38518713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38517850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 30 (I30V)

Ref Sequence

ENSEMBL: ENSMUSP00000053405 (fasta)

Gene Model

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

AlphaFold

E9PW59

Predicted Effect

probably null
Transcript: ENSMUST00000057755
AA Change: I30V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000053405
Gene: ENSMUSG00000047050
AA Change: I30V

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

probably benign
Transcript: ENSMUST00000217057
AA Change: I30V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,589,716 (GRCm39)	M446R	possibly damaging	Het
Abca16	A	G	7: 120,140,500 (GRCm39)	N1599S	probably benign	Het
Ankib1	G	A	5: 3,763,146 (GRCm39)	Q528*	probably null	Het
Ano10	A	T	9: 122,088,606 (GRCm39)	L347M	possibly damaging	Het
Bag6	T	C	17: 35,361,992 (GRCm39)		probably benign	Het
Bpnt1	T	C	1: 185,086,191 (GRCm39)	V182A	possibly damaging	Het
Capn13	G	T	17: 73,638,053 (GRCm39)	T450N	probably benign	Het
Cbr3	A	T	16: 93,480,331 (GRCm39)	E40V	probably benign	Het
Cdk10	T	C	8: 123,955,126 (GRCm39)	I159T	probably damaging	Het
Cela3b	T	C	4: 137,152,382 (GRCm39)	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,219,502 (GRCm39)		probably benign	Het
Cyp2b19	C	T	7: 26,462,886 (GRCm39)	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,497,713 (GRCm39)	H687R	probably benign	Het
Elovl1	T	C	4: 118,288,467 (GRCm39)	V108A	probably benign	Het
Emb	T	A	13: 117,408,614 (GRCm39)	N318K	probably damaging	Het
Ermp1	A	G	19: 29,617,339 (GRCm39)	L36P	probably damaging	Het
Esco2	T	G	14: 66,064,044 (GRCm39)	H380P	possibly damaging	Het
Gm9747	G	A	1: 82,211,809 (GRCm39)		probably benign	Het
Golga1	A	G	2: 38,910,138 (GRCm39)	M603T	probably benign	Het
Hsph1	A	G	5: 149,550,743 (GRCm39)	V411A	probably benign	Het
Igsf21	C	T	4: 139,834,675 (GRCm39)	G66S	possibly damaging	Het
Ints11	T	C	4: 155,969,655 (GRCm39)		probably null	Het
Jakmip1	G	T	5: 37,258,112 (GRCm39)	A253S	probably damaging	Het
Met	A	G	6: 17,540,576 (GRCm39)	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,024,984 (GRCm39)	T2A	probably benign	Het
Myh2	G	T	11: 67,088,170 (GRCm39)	V1929L	probably benign	Het
Myh8	T	C	11: 67,192,536 (GRCm39)	S1472P	probably benign	Het
Myo1e	T	C	9: 70,248,555 (GRCm39)		probably benign	Het
Ndufaf7	A	G	17: 79,244,931 (GRCm39)	I17V	probably benign	Het
Or4a47	T	C	2: 89,666,152 (GRCm39)	T46A	probably damaging	Het
Or5ak22	C	T	2: 85,230,515 (GRCm39)	D121N	probably damaging	Het
Or5h25	A	T	16: 58,930,284 (GRCm39)	S230T	probably damaging	Het
Or6c6c	A	G	10: 129,541,492 (GRCm39)	I248M	probably benign	Het
Or7g18	T	A	9: 18,786,617 (GRCm39)		probably benign	Het
Or8k1	T	G	2: 86,047,505 (GRCm39)	D183A	probably damaging	Het
Ppef2	T	C	5: 92,383,679 (GRCm39)	E477G	probably benign	Het
Scmh1	T	A	4: 120,387,097 (GRCm39)		probably benign	Het
Scn1a	C	A	2: 66,116,281 (GRCm39)	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 118,389,676 (GRCm39)	V322I	probably benign	Het
Slco1a7	G	T	6: 141,658,940 (GRCm39)	T552K	possibly damaging	Het
Spta1	G	A	1: 174,035,960 (GRCm39)	A1089T	probably damaging	Het
Sufu	T	C	19: 46,464,059 (GRCm39)	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183 (GRCm39)	F108L	possibly damaging	Het
Ttn	T	C	2: 76,805,308 (GRCm39)	N177S	probably benign	Het
Tyk2	T	C	9: 21,031,872 (GRCm39)	D401G	probably damaging	Het
Vav1	T	C	17: 57,614,067 (GRCm39)	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,119,718 (GRCm39)	H385R	probably damaging	Het
Xab2	T	C	8: 3,660,880 (GRCm39)	M745V	probably benign	Het

Other mutations in Or8b50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02408:Or8b50	APN	9	38,518,417 (GRCm39)	missense	possibly damaging	0.62
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

2013-12-09