Incidental Mutation 'IGL02596:Or10ag53'
ID 299843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10ag53
Ensembl Gene ENSMUSG00000070856
Gene Name olfactory receptor family 10 subfamily AG member 53
Synonyms GA_x6K02T2Q125-48736906-48737886, MOR273-4P, MOR273-4P, Olfr1530-ps1, MOR264-20, Olfr1115
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL02596
Quality Score
Status
Chromosome 2
Chromosomal Location 87082184-87083285 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 87082473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 64 (T64K)
Ref Sequence ENSEMBL: ENSMUSP00000150996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081986] [ENSMUST00000213513] [ENSMUST00000214119] [ENSMUST00000217196]
AlphaFold Q7TR53
Predicted Effect probably damaging
Transcript: ENSMUST00000081986
AA Change: T64K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080647
Gene: ENSMUSG00000070856
AA Change: T64K

DomainStartEndE-ValueType
Pfam:7tm_4 46 323 5e-54 PFAM
Pfam:7tm_1 56 305 3e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183480
Predicted Effect probably damaging
Transcript: ENSMUST00000213513
AA Change: T64K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000214119
AA Change: T64K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217196
AA Change: T64K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T G 4: 73,868,904 (GRCm39) Q11H possibly damaging Het
Armcx5 T A X: 134,647,268 (GRCm39) I448K probably damaging Het
Atp4b T A 8: 13,443,471 (GRCm39) Y69F possibly damaging Het
Ccdc7b T A 8: 129,798,959 (GRCm39) V12E probably benign Het
Cdc5l C A 17: 45,735,530 (GRCm39) probably benign Het
Clptm1l C T 13: 73,761,785 (GRCm39) R330C probably benign Het
Cpq C T 15: 33,213,160 (GRCm39) R60W probably damaging Het
Cpvl T C 6: 53,908,995 (GRCm39) Y256C probably damaging Het
Cryzl2 A T 1: 157,292,539 (GRCm39) D107V probably damaging Het
Cyp2e1 G A 7: 140,350,031 (GRCm39) V239M probably damaging Het
Cyp2j7 T A 4: 96,103,659 (GRCm39) D292V possibly damaging Het
Dcaf1 A G 9: 106,740,220 (GRCm39) Y1202C probably damaging Het
Dnah3 T C 7: 119,538,137 (GRCm39) N3616S probably benign Het
Enam A G 5: 88,650,885 (GRCm39) D723G probably benign Het
Eps8l1 G A 7: 4,473,871 (GRCm39) R226H probably damaging Het
Erich2 A G 2: 70,343,147 (GRCm39) probably benign Het
Esyt3 A C 9: 99,210,068 (GRCm39) L271V probably benign Het
Fer1l4 T C 2: 155,881,052 (GRCm39) N838S probably benign Het
Gad1 T C 2: 70,425,028 (GRCm39) Y441H probably damaging Het
Gja1 G T 10: 56,264,348 (GRCm39) V236F possibly damaging Het
Gpr156 T C 16: 37,799,086 (GRCm39) I100T probably benign Het
Hace1 A G 10: 45,576,736 (GRCm39) T803A possibly damaging Het
Jagn1 G A 6: 113,424,562 (GRCm39) V145I probably benign Het
Kdm4b C A 17: 56,706,706 (GRCm39) T899K probably benign Het
Klk1b8 G A 7: 43,602,187 (GRCm39) V40M probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mast1 G T 8: 85,644,400 (GRCm39) A843E probably benign Het
Mbd1 T A 18: 74,409,868 (GRCm39) probably benign Het
Mdga1 A G 17: 30,051,379 (GRCm39) probably benign Het
Mlh3 A G 12: 85,287,732 (GRCm39) probably null Het
Or5b109 A T 19: 13,211,763 (GRCm39) I50F probably damaging Het
Pwp1 A G 10: 85,707,882 (GRCm39) probably null Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Slc12a7 T A 13: 73,933,242 (GRCm39) V100E probably benign Het
Spata31e2 T A 1: 26,723,083 (GRCm39) H699L probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tgfb1i1 T A 7: 127,848,068 (GRCm39) M1K probably null Het
Tubgcp6 T A 15: 88,985,117 (GRCm39) E1657V probably damaging Het
Zfp770 A G 2: 114,026,308 (GRCm39) V587A probably benign Het
Zxdc A G 6: 90,350,691 (GRCm39) probably null Het
Other mutations in Or10ag53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01101:Or10ag53 APN 2 87,082,806 (GRCm39) missense probably damaging 1.00
IGL01376:Or10ag53 APN 2 87,083,217 (GRCm39) missense possibly damaging 0.58
IGL02167:Or10ag53 APN 2 87,082,542 (GRCm39) missense probably benign 0.18
IGL02224:Or10ag53 APN 2 87,082,821 (GRCm39) missense probably benign 0.42
IGL02388:Or10ag53 APN 2 87,082,295 (GRCm39) missense probably benign
PIT4131001:Or10ag53 UTSW 2 87,082,973 (GRCm39) missense probably benign 0.01
R0140:Or10ag53 UTSW 2 87,082,969 (GRCm39) missense probably damaging 1.00
R0468:Or10ag53 UTSW 2 87,082,599 (GRCm39) missense probably benign 0.04
R1222:Or10ag53 UTSW 2 87,082,766 (GRCm39) missense probably benign 0.04
R1418:Or10ag53 UTSW 2 87,082,766 (GRCm39) missense probably benign 0.04
R1742:Or10ag53 UTSW 2 87,083,122 (GRCm39) missense probably benign 0.01
R1822:Or10ag53 UTSW 2 87,083,054 (GRCm39) missense possibly damaging 0.91
R2332:Or10ag53 UTSW 2 87,083,217 (GRCm39) missense possibly damaging 0.58
R3123:Or10ag53 UTSW 2 87,083,135 (GRCm39) missense possibly damaging 0.67
R3407:Or10ag53 UTSW 2 87,083,243 (GRCm39) missense probably benign 0.00
R4571:Or10ag53 UTSW 2 87,082,802 (GRCm39) missense possibly damaging 0.67
R4710:Or10ag53 UTSW 2 87,082,384 (GRCm39) missense possibly damaging 0.64
R4889:Or10ag53 UTSW 2 87,082,991 (GRCm39) missense probably damaging 0.97
R5031:Or10ag53 UTSW 2 87,082,426 (GRCm39) missense probably benign
R5288:Or10ag53 UTSW 2 87,082,827 (GRCm39) missense probably benign 0.06
R5385:Or10ag53 UTSW 2 87,082,827 (GRCm39) missense probably benign 0.06
R5386:Or10ag53 UTSW 2 87,082,827 (GRCm39) missense probably benign 0.06
R5669:Or10ag53 UTSW 2 87,082,785 (GRCm39) missense probably benign 0.00
R6187:Or10ag53 UTSW 2 87,083,042 (GRCm39) missense probably damaging 1.00
R6226:Or10ag53 UTSW 2 87,082,736 (GRCm39) missense probably benign 0.27
R6598:Or10ag53 UTSW 2 87,083,100 (GRCm39) missense probably damaging 0.96
R8208:Or10ag53 UTSW 2 87,083,007 (GRCm39) missense probably benign 0.24
R8493:Or10ag53 UTSW 2 87,083,215 (GRCm39) missense probably benign 0.24
R8724:Or10ag53 UTSW 2 87,082,704 (GRCm39) missense probably damaging 1.00
R8965:Or10ag53 UTSW 2 87,082,901 (GRCm39) missense possibly damaging 0.86
R9015:Or10ag53 UTSW 2 87,082,546 (GRCm39) nonsense probably null
R9302:Or10ag53 UTSW 2 87,082,906 (GRCm39) missense probably benign 0.10
R9742:Or10ag53 UTSW 2 87,082,376 (GRCm39) missense probably benign 0.29
R9758:Or10ag53 UTSW 2 87,082,439 (GRCm39) missense possibly damaging 0.79
R9775:Or10ag53 UTSW 2 87,082,568 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16