Incidental Mutation 'IGL01326:Olfr1238'
ID 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
Chromosome 2
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

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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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