Incidental Mutation 'R5031:Or10ag53'
ID 391679
Institutional Source Beutler Lab
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
MMRRC Submission 042622-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5031 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 87082184-87083285 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 87082426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 48 (F48L)
Ref Sequence ENSEMBL: ENSMUSP00000150996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081986] [ENSMUST00000213513] [ENSMUST00000214119] [ENSMUST00000217196]
AlphaFold Q7TR53
Predicted Effect probably benign
Transcript: ENSMUST00000081986
AA Change: F48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080647
Gene: ENSMUSG00000070856
AA Change: F48L

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 benign
Transcript: ENSMUST00000213513
AA Change: F48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000214119
AA Change: F48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217196
AA Change: F48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 89.9%
Validation Efficiency 100% (52/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,247,678 (GRCm39) N2475I probably damaging Het
Acnat2 T C 4: 49,380,631 (GRCm39) K231R probably damaging Het
Ank1 C T 8: 23,589,696 (GRCm39) P599L probably damaging Het
Arhgef19 A G 4: 140,978,121 (GRCm39) E580G probably damaging Het
Atr A G 9: 95,747,755 (GRCm39) K346E probably damaging Het
AU021092 T C 16: 5,030,468 (GRCm39) K309E probably damaging Het
Baz2b T C 2: 59,743,151 (GRCm39) R1607G probably benign Het
Cct8 C T 16: 87,284,426 (GRCm39) V254M probably damaging Het
Cdca2 T A 14: 67,950,602 (GRCm39) I110F probably damaging Het
Csmd3 A T 15: 47,522,588 (GRCm39) C2694S probably damaging Het
Dmkn A G 7: 30,463,661 (GRCm39) I105V probably benign Het
Dock1 A G 7: 134,753,975 (GRCm39) D1584G probably benign Het
Epg5 G A 18: 78,072,163 (GRCm39) V2392I probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gsap G A 5: 21,447,824 (GRCm39) S294N possibly damaging Het
Hectd2 A G 19: 36,577,004 (GRCm39) N142D probably damaging Het
Hmcn1 A G 1: 150,464,008 (GRCm39) C5091R probably damaging Het
Ifitm5 G A 7: 140,530,017 (GRCm39) R36* probably null Het
Ints2 G A 11: 86,147,026 (GRCm39) P40L probably damaging Het
Irs1 A T 1: 82,264,688 (GRCm39) L1176* probably null Het
Klhl29 C T 12: 5,141,334 (GRCm39) R550Q probably benign Het
Kyat1 A G 2: 30,078,102 (GRCm39) M134T probably damaging Het
Lrrk2 A T 15: 91,584,822 (GRCm39) N384Y possibly damaging Het
Magel2 T C 7: 62,029,852 (GRCm39) S919P unknown Het
Mettl16 A T 11: 74,693,825 (GRCm39) I279F probably benign Het
Mmut T C 17: 41,249,718 (GRCm39) F231S possibly damaging Het
Mrgpra1 A T 7: 46,984,985 (GRCm39) Y231* probably null Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mvp A C 7: 126,592,788 (GRCm39) Y374* probably null Het
Nabp2 G A 10: 128,245,497 (GRCm39) probably benign Het
Nos1 C T 5: 118,017,378 (GRCm39) P247L probably benign Het
Or9g4b T A 2: 85,616,062 (GRCm39) L69* probably null Het
Pik3cb C T 9: 98,953,461 (GRCm39) D441N probably damaging Het
Qrich1 C T 9: 108,418,935 (GRCm39) P464S possibly damaging Het
Rab17 A T 1: 90,887,860 (GRCm39) probably null Het
Relch A G 1: 105,592,239 (GRCm39) N136S probably damaging Het
Rspo3 A T 10: 29,382,443 (GRCm39) L77H probably damaging Het
Spn G T 7: 126,736,402 (GRCm39) T35K probably benign Het
Sult1d1 T A 5: 87,707,703 (GRCm39) Y139F possibly damaging Het
Tbc1d32 C A 10: 55,999,627 (GRCm39) Q848H probably damaging Het
Tcaf3 A G 6: 42,573,867 (GRCm39) V115A probably benign Het
Tram1l1 T A 3: 124,115,293 (GRCm39) L151* probably null Het
Trappc12 T A 12: 28,742,512 (GRCm39) I682L possibly damaging Het
Trav6d-4 A C 14: 52,991,056 (GRCm39) T31P probably damaging Het
Trpm8 A G 1: 88,275,910 (GRCm39) T503A probably benign Het
Virma T A 4: 11,542,116 (GRCm39) Y1567* probably null Het
Vmn1r228 T A 17: 20,996,943 (GRCm39) K192* probably null Het
Zfp521 T A 18: 13,977,330 (GRCm39) T1028S possibly damaging Het
Zfp583 T A 7: 6,320,397 (GRCm39) Q205L probably benign 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
IGL02596:Or10ag53 APN 2 87,082,473 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- AGTTCCAGAGACATCACGCAG -3'
(R):5'- TCCTTTCAGTGTGAAGAGATCC -3'

Sequencing Primer
(F):5'- GTTGTAAAGACTGAAACACAATCCC -3'
(R):5'- CAGTGTGAAGAGATCCATAAGCATTC -3'
Posted On 2016-06-06