Incidental Mutation 'IGL01872:Or13a26'
ID 178739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or13a26
Ensembl Gene ENSMUSG00000057997
Gene Name olfactory receptor family 13 subfamily A member 26
Synonyms GA_x6K02T2PBJ9-42850324-42851256, MOR253-3, Olfr541
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL01872
Quality Score
Status
Chromosome 7
Chromosomal Location 140284166-140285104 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140284176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 4 (L4P)
Ref Sequence ENSEMBL: ENSMUSP00000147660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080681] [ENSMUST00000209857] [ENSMUST00000210357]
AlphaFold Q8VGM0
Predicted Effect probably benign
Transcript: ENSMUST00000080681
AA Change: L4P

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079508
Gene: ENSMUSG00000057997
AA Change: L4P

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 2.2e-49 PFAM
Pfam:7TM_GPCR_Srsx 37 180 5e-8 PFAM
Pfam:7tm_1 43 292 1.2e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000209857
AA Change: L4P

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000210357
AA Change: L4P

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,058,120 (GRCm39) probably benign Het
Alpk2 A G 18: 65,437,824 (GRCm39) S1657P probably benign Het
Alx4 A G 2: 93,507,818 (GRCm39) N371S probably benign Het
Cby1 T A 15: 79,549,943 (GRCm39) W59R probably damaging Het
Chmp1a A T 8: 123,932,976 (GRCm39) L159Q probably damaging Het
Ciz1 T C 2: 32,268,121 (GRCm39) probably benign Het
Cnksr1 A G 4: 133,956,275 (GRCm39) I603T probably benign Het
Dph1 A C 11: 75,072,167 (GRCm39) F220C probably damaging Het
Epha4 T A 1: 77,359,676 (GRCm39) M726L probably benign Het
Eps8l1 C T 7: 4,475,295 (GRCm39) probably benign Het
Fbxo24 C A 5: 137,611,987 (GRCm39) R313L probably damaging Het
Fgf4 C T 7: 144,415,995 (GRCm39) R119* probably null Het
Grb10 T C 11: 11,920,547 (GRCm39) T24A probably damaging Het
Ifi27l2a C T 12: 103,401,719 (GRCm39) A2V probably damaging Het
Ipmk T A 10: 71,208,706 (GRCm39) M165K probably damaging Het
Kcnk2 C T 1: 188,988,780 (GRCm39) G266R probably damaging Het
Mak A C 13: 41,210,131 (GRCm39) M35R probably damaging Het
Mlxipl A T 5: 135,142,545 (GRCm39) I120F probably damaging Het
Nav1 A G 1: 135,381,814 (GRCm39) V1423A probably damaging Het
Olfm4 T C 14: 80,259,368 (GRCm39) *506Q probably null Het
Opn4 T A 14: 34,319,166 (GRCm39) probably benign Het
Or52ab2 T C 7: 102,970,179 (GRCm39) V187A probably benign Het
Or5g23 T A 2: 85,438,673 (GRCm39) M194L probably benign Het
Otof G A 5: 30,536,598 (GRCm39) probably benign Het
Pde5a G A 3: 122,588,018 (GRCm39) probably null Het
Pik3r1 A T 13: 101,825,625 (GRCm39) D87E probably benign Het
Rbm6 A T 9: 107,660,914 (GRCm39) V883E probably damaging Het
Rptn A G 3: 93,304,154 (GRCm39) S496G probably benign Het
Sap130 A G 18: 31,807,473 (GRCm39) R427G probably damaging Het
Slc26a4 T C 12: 31,589,202 (GRCm39) S415G probably benign Het
Slc5a1 T C 5: 33,311,981 (GRCm39) S458P probably damaging Het
Smg1 A G 7: 117,748,167 (GRCm39) probably benign Het
Sspo G T 6: 48,431,623 (GRCm39) V639L probably damaging Het
Ttn A G 2: 76,729,077 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps54 G A 11: 21,256,940 (GRCm39) A683T probably damaging Het
Zfp354a A T 11: 50,960,164 (GRCm39) N123I possibly damaging Het
Zfpm2 T C 15: 40,965,783 (GRCm39) V624A probably benign Het
Other mutations in Or13a26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Or13a26 APN 7 140,284,350 (GRCm39) missense probably damaging 1.00
IGL02814:Or13a26 APN 7 140,285,046 (GRCm39) missense probably damaging 1.00
R0690:Or13a26 UTSW 7 140,284,700 (GRCm39) missense possibly damaging 0.88
R1019:Or13a26 UTSW 7 140,284,407 (GRCm39) missense probably damaging 1.00
R1665:Or13a26 UTSW 7 140,284,707 (GRCm39) missense probably damaging 1.00
R1696:Or13a26 UTSW 7 140,284,409 (GRCm39) nonsense probably null
R4065:Or13a26 UTSW 7 140,284,182 (GRCm39) missense probably benign
R4517:Or13a26 UTSW 7 140,285,004 (GRCm39) missense probably damaging 1.00
R5549:Or13a26 UTSW 7 140,284,712 (GRCm39) splice site probably null
R6327:Or13a26 UTSW 7 140,284,616 (GRCm39) missense probably damaging 1.00
R7288:Or13a26 UTSW 7 140,284,942 (GRCm39) nonsense probably null
R7307:Or13a26 UTSW 7 140,285,060 (GRCm39) missense probably benign 0.39
R7454:Or13a26 UTSW 7 140,284,547 (GRCm39) missense probably damaging 1.00
R8725:Or13a26 UTSW 7 140,284,607 (GRCm39) missense probably benign
R9404:Or13a26 UTSW 7 140,284,722 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07