Incidental Mutation 'IGL01648:Or4a39'
ID 102749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4a39
Ensembl Gene ENSMUSG00000111517
Gene Name olfactory receptor family 4subfamily A member 39
Synonyms GA_x6K02T2Q125-50849945-50848998, Olfr1238, MOR231-11
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL01648
Quality Score
Status
Chromosome 2
Chromosomal Location 89236474-89237421 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89236535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 296 (M296K)
Ref Sequence ENSEMBL: ENSMUSP00000150367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099781] [ENSMUST00000217226] [ENSMUST00000217237]
AlphaFold Q8VG59
Predicted Effect probably damaging
Transcript: ENSMUST00000099781
AA Change: M296K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097369
Gene: ENSMUSG00000111517
AA Change: M296K

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000217226
AA Change: M296K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217237
AA Change: M296K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A G 5: 26,695,398 (GRCm39) noncoding transcript Het
Abca7 C T 10: 79,846,914 (GRCm39) S1664L probably damaging Het
Aebp1 G T 11: 5,820,607 (GRCm39) R499L possibly damaging Het
Agt C A 8: 125,291,145 (GRCm39) S54I probably benign Het
Chic2 T A 5: 75,187,860 (GRCm39) S67C probably damaging Het
Col12a1 T A 9: 79,508,451 (GRCm39) *3066Y probably null Het
Fan1 A G 7: 64,022,297 (GRCm39) S319P probably damaging Het
Fgd5 C T 6: 91,966,340 (GRCm39) Q700* probably null Het
Frem2 T A 3: 53,443,153 (GRCm39) H2537L possibly damaging Het
Lingo1 C A 9: 56,527,111 (GRCm39) A493S probably damaging Het
Med20 A G 17: 47,933,925 (GRCm39) H180R possibly damaging Het
Megf8 T C 7: 25,026,997 (GRCm39) C152R probably damaging Het
Mms22l T C 4: 24,502,805 (GRCm39) F59S probably damaging Het
Pgm5 T C 19: 24,801,715 (GRCm39) D171G probably damaging Het
Rbm47 A T 5: 66,182,321 (GRCm39) N437K possibly damaging Het
Tpra1 T A 6: 88,886,653 (GRCm39) probably benign Het
Tradd A G 8: 105,986,418 (GRCm39) L118S probably damaging Het
Trib1 G T 15: 59,526,350 (GRCm39) V307F probably benign Het
Vps50 T A 6: 3,498,545 (GRCm39) M8K probably benign Het
Xrcc6 A T 15: 81,909,835 (GRCm39) E238V probably damaging Het
Other mutations in Or4a39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Or4a39 APN 2 89,236,675 (GRCm39) missense possibly damaging 0.95
IGL03005:Or4a39 APN 2 89,237,315 (GRCm39) missense possibly damaging 0.95
R0450:Or4a39 UTSW 2 89,237,135 (GRCm39) missense probably damaging 0.99
R0469:Or4a39 UTSW 2 89,237,135 (GRCm39) missense probably damaging 0.99
R0510:Or4a39 UTSW 2 89,237,135 (GRCm39) missense probably damaging 0.99
R1983:Or4a39 UTSW 2 89,236,770 (GRCm39) missense probably benign 0.00
R4183:Or4a39 UTSW 2 89,236,935 (GRCm39) missense probably benign
R4737:Or4a39 UTSW 2 89,236,830 (GRCm39) missense probably benign 0.05
R4748:Or4a39 UTSW 2 89,236,599 (GRCm39) missense probably benign 0.02
R4749:Or4a39 UTSW 2 89,236,599 (GRCm39) missense probably benign 0.02
R4969:Or4a39 UTSW 2 89,236,770 (GRCm39) missense probably benign 0.00
R5047:Or4a39 UTSW 2 89,237,057 (GRCm39) missense probably damaging 1.00
R5992:Or4a39 UTSW 2 89,237,223 (GRCm39) missense probably benign 0.02
R6031:Or4a39 UTSW 2 89,237,316 (GRCm39) missense probably damaging 1.00
R6031:Or4a39 UTSW 2 89,237,316 (GRCm39) missense probably damaging 1.00
R6263:Or4a39 UTSW 2 89,237,074 (GRCm39) missense possibly damaging 0.80
R6416:Or4a39 UTSW 2 89,236,866 (GRCm39) missense possibly damaging 0.78
R7352:Or4a39 UTSW 2 89,236,806 (GRCm39) missense probably benign 0.00
R7515:Or4a39 UTSW 2 89,237,250 (GRCm39) missense possibly damaging 0.91
R7796:Or4a39 UTSW 2 89,237,157 (GRCm39) missense possibly damaging 0.73
R7893:Or4a39 UTSW 2 89,237,414 (GRCm39) missense probably benign 0.00
R8034:Or4a39 UTSW 2 89,237,081 (GRCm39) missense probably benign 0.44
R8399:Or4a39 UTSW 2 89,237,028 (GRCm39) missense probably benign 0.10
R8694:Or4a39 UTSW 2 89,237,378 (GRCm39) missense probably damaging 1.00
R9085:Or4a39 UTSW 2 89,236,641 (GRCm39) missense probably damaging 0.99
R9486:Or4a39 UTSW 2 89,236,959 (GRCm39) missense possibly damaging 0.53
Posted On 2014-01-21