Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01326:Olfr1238'

74281

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr1238

Ensembl Gene

ENSMUSG00000111517

Gene Name

olfactory receptor 1238

Synonyms

MOR231-11, GA_x6K02T2Q125-50849945-50848998

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

IGL01326

Quality Score

Status

Chromosome

Chromosomal Location

89401991-89409676 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89406331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 249 (F249L)

Ref Sequence

ENSEMBL: ENSMUSP00000150367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099781] [ENSMUST00000217226] [ENSMUST00000217237]

AlphaFold

Q8VG59

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099781
AA Change: F249L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097369
Gene: ENSMUSG00000111517
AA Change: F249L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	7.7e-46	PFAM
Pfam:7TM_GPCR_Srsx	33	300	1.1e-5	PFAM
Pfam:7tm_1	39	285	6.7e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215283

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217226
AA Change: F249L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217237
AA Change: F249L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

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
Adh1	G	A	3: 138,286,911 (GRCm38)	V263M	probably damaging	Het
Akap13	T	A	7: 75,725,348 (GRCm38)	H1909Q	probably benign	Het
Atg2b	C	T	12: 105,622,144 (GRCm38)	A1936T	probably damaging	Het
Atp8b3	G	T	10: 80,524,376 (GRCm38)	L954M	probably damaging	Het
C8a	T	C	4: 104,856,420 (GRCm38)	Y171C	probably damaging	Het
Cd6	A	G	19: 10,791,102 (GRCm38)	S508P	probably benign	Het
Cdk4	A	G	10: 127,064,623 (GRCm38)	D86G	possibly damaging	Het
Cdr2l	G	T	11: 115,390,970 (GRCm38)	R100S	probably benign	Het
Cndp1	T	A	18: 84,622,232 (GRCm38)	T283S	probably benign	Het
Cr2	T	C	1: 195,141,221 (GRCm38)	Y1023C	probably null	Het
Csmd3	A	G	15: 47,849,785 (GRCm38)	F1494L	probably benign	Het
Eng	G	T	2: 32,672,382 (GRCm38)	G231W	probably benign	Het
Erp44	A	G	4: 48,218,126 (GRCm38)	V181A	probably benign	Het
Fam102b	A	G	3: 108,979,785 (GRCm38)	V299A	possibly damaging	Het
Fkbp15	A	G	4: 62,323,250 (GRCm38)	S553P	probably damaging	Het
Glg1	A	G	8: 111,182,573 (GRCm38)	V495A	probably damaging	Het
Gm9631	A	T	11: 121,945,628 (GRCm38)	D28E	possibly damaging	Het
Gnptab	G	T	10: 88,433,065 (GRCm38)	L543F	probably damaging	Het
Hist1h4c	A	T	13: 23,698,370 (GRCm38)	I27N	probably damaging	Het
Khdrbs2	T	G	1: 32,657,477 (GRCm38)	L329R	possibly damaging	Het
Kidins220	C	A	12: 25,038,499 (GRCm38)	H1080Q	probably damaging	Het
Maml1	G	A	11: 50,265,888 (GRCm38)	P487S	probably benign	Het
Marc2	T	C	1: 184,833,851 (GRCm38)		probably benign	Het
Me1	C	T	9: 86,598,718 (GRCm38)		probably null	Het
Morc2a	C	T	11: 3,681,775 (GRCm38)	R569C	probably benign	Het
Mrc1	A	G	2: 14,266,524 (GRCm38)	Q413R	probably damaging	Het
Mrgprx1	A	T	7: 48,021,769 (GRCm38)	C77S	probably benign	Het
Myo1d	A	T	11: 80,684,321 (GRCm38)		probably benign	Het
Nr4a1	T	G	15: 101,274,059 (GRCm38)	L538R	probably damaging	Het
Olfm1	T	C	2: 28,229,552 (GRCm38)	Y385H	probably damaging	Het
Olfr1034	A	G	2: 86,047,283 (GRCm38)	E267G	probably damaging	Het
Pkd1	T	A	17: 24,576,174 (GRCm38)	Y2278*	probably null	Het
Plcg2	T	C	8: 117,573,999 (GRCm38)		probably benign	Het
Prkdc	G	T	16: 15,829,692 (GRCm38)	C3660F	probably benign	Het
Ptpn11	T	C	5: 121,143,136 (GRCm38)	D493G	probably damaging	Het
Rad23b	T	A	4: 55,383,601 (GRCm38)	F278I	possibly damaging	Het
Saxo2	T	C	7: 82,648,405 (GRCm38)	I9V	probably benign	Het
Scn7a	T	C	2: 66,752,260 (GRCm38)	I98V	probably benign	Het
Serac1	T	A	17: 6,074,253 (GRCm38)		probably benign	Het
Simc1	T	C	13: 54,524,660 (GRCm38)	C274R	probably benign	Het
Sirt3	A	G	7: 140,864,093 (GRCm38)		probably benign	Het
Tctn3	A	G	19: 40,597,436 (GRCm38)	L555P	probably damaging	Het
Ttc14	A	G	3: 33,801,358 (GRCm38)	I151V	probably benign	Het
Ush2a	T	A	1: 188,263,321 (GRCm38)	Y96*	probably null	Het
Usp42	T	C	5: 143,721,215 (GRCm38)	T270A	possibly damaging	Het
Vmn1r31	A	G	6: 58,472,799 (GRCm38)	I27T	probably benign	Het
Vmn2r93	G	A	17: 18,316,644 (GRCm38)	A530T	possibly damaging	Het

Other mutations in Olfr1238

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01648:Olfr1238	APN	2	89,406,191 (GRCm38)	missense	probably damaging	0.99
IGL03005:Olfr1238	APN	2	89,406,971 (GRCm38)	missense	possibly damaging	0.95
R0450:Olfr1238	UTSW	2	89,406,791 (GRCm38)	missense	probably damaging	0.99
R0469:Olfr1238	UTSW	2	89,406,791 (GRCm38)	missense	probably damaging	0.99
R0510:Olfr1238	UTSW	2	89,406,791 (GRCm38)	missense	probably damaging	0.99
R1983:Olfr1238	UTSW	2	89,406,426 (GRCm38)	missense	probably benign	0.00
R4183:Olfr1238	UTSW	2	89,406,591 (GRCm38)	missense	probably benign
R4737:Olfr1238	UTSW	2	89,406,486 (GRCm38)	missense	probably benign	0.05
R4748:Olfr1238	UTSW	2	89,406,255 (GRCm38)	missense	probably benign	0.02
R4749:Olfr1238	UTSW	2	89,406,255 (GRCm38)	missense	probably benign	0.02
R4969:Olfr1238	UTSW	2	89,406,426 (GRCm38)	missense	probably benign	0.00
R5047:Olfr1238	UTSW	2	89,406,713 (GRCm38)	missense	probably damaging	1.00
R5992:Olfr1238	UTSW	2	89,406,879 (GRCm38)	missense	probably benign	0.02
R6031:Olfr1238	UTSW	2	89,406,972 (GRCm38)	missense	probably damaging	1.00
R6031:Olfr1238	UTSW	2	89,406,972 (GRCm38)	missense	probably damaging	1.00
R6263:Olfr1238	UTSW	2	89,406,730 (GRCm38)	missense	possibly damaging	0.80
R6416:Olfr1238	UTSW	2	89,406,522 (GRCm38)	missense	possibly damaging	0.78
R7352:Olfr1238	UTSW	2	89,406,462 (GRCm38)	missense	probably benign	0.00
R7515:Olfr1238	UTSW	2	89,406,906 (GRCm38)	missense	possibly damaging	0.91
R7796:Olfr1238	UTSW	2	89,406,813 (GRCm38)	missense	possibly damaging	0.73
R7893:Olfr1238	UTSW	2	89,407,070 (GRCm38)	missense	probably benign	0.00
R8034:Olfr1238	UTSW	2	89,406,737 (GRCm38)	missense	probably benign	0.44
R8399:Olfr1238	UTSW	2	89,406,684 (GRCm38)	missense	probably benign	0.10
R8694:Olfr1238	UTSW	2	89,407,034 (GRCm38)	missense	probably damaging	1.00
R9085:Olfr1238	UTSW	2	89,406,297 (GRCm38)	missense	probably damaging	0.99
R9486:Olfr1238	UTSW	2	89,406,615 (GRCm38)	missense	possibly damaging	0.53

Posted On

2013-10-07