Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02716:Olfr338'

304742

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr338

Ensembl Gene

ENSMUSG00000068950

Gene Name

olfactory receptor 338

Synonyms

MOR136-5, GA_x6K02T2NLDC-33070879-33071799

Accession Numbers

Is this an essential gene?

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

Stock #

IGL02716

Quality Score

Status

Chromosome

Chromosomal Location

36373519-36382433 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36377343 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 189 (D189G)

Ref Sequence

ENSEMBL: ENSMUSP00000149146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072114] [ENSMUST00000091006] [ENSMUST00000217511]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072114
AA Change: D189G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071985
Gene: ENSMUSG00000068950
AA Change: D189G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.3e-57	PFAM
Pfam:7TM_GPCR_Srsx	35	305	3.8e-8	PFAM
Pfam:7tm_1	41	290	1.1e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091006
AA Change: D189G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088528
Gene: ENSMUSG00000068950
AA Change: D189G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	3.9e-56	PFAM
Pfam:7tm_1	39	288	4.5e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217511
AA Change: D189G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	T	C	11: 54,327,276	S212P	probably benign	Het
Ago2	C	T	15: 73,111,727	R711Q	possibly damaging	Het
Akp3	A	C	1: 87,125,479	D91A	probably damaging	Het
Arhgap12	T	A	18: 6,111,857	Q169L	possibly damaging	Het
Aspm	A	G	1: 139,479,687	Y2104C	probably damaging	Het
Baz2b	G	A	2: 59,962,524	S420L	possibly damaging	Het
Cenpo	T	C	12: 4,215,390	N210S	possibly damaging	Het
Chadl	T	C	15: 81,695,915	N40D	probably damaging	Het
Crebbp	T	C	16: 4,114,878	E586G	probably benign	Het
Cts7	T	A	13: 61,356,608	Q47L	probably benign	Het
Cyp2c40	C	A	19: 39,807,536	D133Y	possibly damaging	Het
Dnah3	A	T	7: 119,937,023	M3679K	probably damaging	Het
Dym	T	C	18: 75,286,683	Y642H	probably damaging	Het
Efr3b	T	C	12: 3,984,627	D65G	probably damaging	Het
Elmo1	T	A	13: 20,449,502	F445I	probably damaging	Het
Epdr1	C	T	13: 19,594,570	V119M	probably benign	Het
Epha4	G	T	1: 77,380,965	R799S	probably damaging	Het
Esyt3	A	T	9: 99,317,224	V778E	probably damaging	Het
F10	A	T	8: 13,048,177	K127*	probably null	Het
Fcgbp	G	A	7: 28,101,434	E1302K	probably damaging	Het
Fer1l4	A	G	2: 156,029,715	F1382L	probably damaging	Het
Fhad1	T	C	4: 141,918,331	I318V	possibly damaging	Het
Fscn2	A	T	11: 120,366,724	T304S	probably benign	Het
Gab1	A	T	8: 80,769,694	L659Q	probably damaging	Het
Gm4845	A	C	1: 141,256,838		noncoding transcript	Het
Gm572	A	G	4: 148,654,870	M52V	probably benign	Het
Hmgcr	T	C	13: 96,660,012		probably null	Het
Kcnk5	T	C	14: 20,181,428	T9A	probably damaging	Het
Krt87	A	C	15: 101,434,604	F243V	possibly damaging	Het
Mast1	G	T	8: 84,935,723	P52Q	probably damaging	Het
Mcf2l	A	T	8: 12,997,277	Q211L	probably benign	Het
Mtus2	C	A	5: 148,236,310	P968T	probably benign	Het
Mylk2	T	C	2: 152,922,153	*614R	probably null	Het
Myo15b	A	T	11: 115,883,709	E2049V	probably benign	Het
Myo6	A	T	9: 80,269,694	H581L	probably damaging	Het
Numb	A	T	12: 83,801,208	S241T	possibly damaging	Het
Olfr1265	G	T	2: 90,037,794	V292L	probably benign	Het
Olfr1283	A	T	2: 111,368,781	I50F	probably benign	Het
Phldb2	A	G	16: 45,801,590	S676P	probably damaging	Het
Rttn	G	A	18: 89,048,417	E1196K	possibly damaging	Het
Skiv2l2	T	G	13: 112,883,146	D810A	probably benign	Het
Slc13a3	G	A	2: 165,406,715	P548S	unknown	Het
Slc2a7	A	G	4: 150,160,010		probably benign	Het
Slc37a1	T	C	17: 31,328,161	S261P	possibly damaging	Het
Spryd3	T	A	15: 102,133,461	Y42F	possibly damaging	Het
Srrm3	A	G	5: 135,854,433		probably null	Het
Stambp	G	A	6: 83,556,390	T297I	probably damaging	Het
Sypl	T	A	12: 32,967,669	Y129N	probably damaging	Het
Syt14	G	A	1: 192,980,535	P368S	possibly damaging	Het
Tas2r122	T	C	6: 132,711,264	D222G	probably damaging	Het
Tead2	C	A	7: 45,232,296	Y79*	probably null	Het
Tmem251	A	G	12: 102,744,829	T104A	probably benign	Het
Uso1	T	C	5: 92,173,935	V229A	probably damaging	Het
Vmn1r238	A	G	18: 3,123,124	S97P	probably damaging	Het
Vmn2r82	T	A	10: 79,377,844	V88D	probably benign	Het
Vps29	A	G	5: 122,362,066	T85A	probably benign	Het
Wdr90	T	A	17: 25,857,220	S500C	probably damaging	Het
Zfp958	G	A	8: 4,625,967		probably null	Het

Other mutations in Olfr338

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Olfr338	APN	2	36376916	missense	probably damaging	0.99
IGL01089:Olfr338	APN	2	36377166	missense	probably damaging	1.00
IGL01298:Olfr338	APN	2	36377448	missense	probably benign	0.01
IGL01300:Olfr338	APN	2	36377042	missense	probably benign	0.13
IGL01632:Olfr338	APN	2	36377564	missense	probably benign	0.02
IGL02480:Olfr338	APN	2	36377492	missense	probably damaging	0.98
IGL02519:Olfr338	APN	2	36377313	missense	possibly damaging	0.84
IGL02658:Olfr338	APN	2	36377060	missense	probably damaging	0.97
IGL02983:Olfr338	APN	2	36377637	missense	probably damaging	1.00
IGL03334:Olfr338	APN	2	36377051	missense	possibly damaging	0.66
IGL03054:Olfr338	UTSW	2	36376932	missense	possibly damaging	0.65
R0469:Olfr338	UTSW	2	36377462	missense	probably benign	0.02
R1263:Olfr338	UTSW	2	36376994	missense	probably damaging	0.99
R1500:Olfr338	UTSW	2	36377621	missense	probably benign	0.04
R2444:Olfr338	UTSW	2	36377613	missense	possibly damaging	0.59
R5571:Olfr338	UTSW	2	36377117	missense	probably benign	0.01
R5999:Olfr338	UTSW	2	36377310	missense	probably damaging	1.00
R6030:Olfr338	UTSW	2	36377544	missense	probably damaging	0.97
R6030:Olfr338	UTSW	2	36377544	missense	probably damaging	0.97
R6351:Olfr338	UTSW	2	36377196	missense	possibly damaging	0.78
R6695:Olfr338	UTSW	2	36377105	missense	probably benign	0.28
R6785:Olfr338	UTSW	2	36376842	missense	probably benign	0.12
R6785:Olfr338	UTSW	2	36376951	nonsense	probably null
R7795:Olfr338	UTSW	2	36377441	missense	probably benign	0.05
R7814:Olfr338	UTSW	2	36376809	missense	possibly damaging	0.48
R7878:Olfr338	UTSW	2	36377133	missense	probably damaging	1.00

Posted On

2015-04-16