Incidental Mutation 'R1897:Or8g53'
ID 212051
Institutional Source Beutler Lab
Gene Symbol Or8g53
Ensembl Gene ENSMUSG00000095903
Gene Name olfactory receptor family 8 subfamily G member 53
Synonyms Olfr968, GA_x6K02T2PVTD-33470347-33469403, MOR171-15
MMRRC Submission 039917-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R1897 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 39683068-39684094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39683361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 245 (I245K)
Ref Sequence ENSEMBL: ENSMUSP00000148969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075928] [ENSMUST00000216458]
AlphaFold Q8VFN4
Predicted Effect probably damaging
Transcript: ENSMUST00000075928
AA Change: I245K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096472
Gene: ENSMUSG00000095903
AA Change: I245K

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1e-51 PFAM
Pfam:7tm_1 41 290 2e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216458
AA Change: I245K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.8%
Validation Efficiency 99% (72/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 A G 1: 155,434,564 (GRCm39) S61G probably damaging Het
Acot12 A G 13: 91,932,516 (GRCm39) N504S probably benign Het
Adcy3 C T 12: 4,223,450 (GRCm39) probably benign Het
Adcyap1r1 A T 6: 55,456,179 (GRCm39) H168L probably damaging Het
Adgrd1 A G 5: 129,206,065 (GRCm39) E213G probably benign Het
Aldh1l2 G T 10: 83,338,389 (GRCm39) T510K probably damaging Het
Apol7e A T 15: 77,602,094 (GRCm39) M231L probably benign Het
Asb1 C A 1: 91,474,647 (GRCm39) probably null Het
Atf7ip2 C T 16: 10,028,948 (GRCm39) P160L probably damaging Het
Atp8a1 A G 5: 67,895,772 (GRCm39) L554P probably damaging Het
Ccdc18 A T 5: 108,343,908 (GRCm39) M884L probably benign Het
Ccdc93 A G 1: 121,418,941 (GRCm39) I499V probably benign Het
Ccl20 A G 1: 83,095,616 (GRCm39) D60G probably damaging Het
Cdhr3 T C 12: 33,095,192 (GRCm39) T626A possibly damaging Het
Cep250 A G 2: 155,818,015 (GRCm39) E789G probably damaging Het
Cmpk2 T C 12: 26,524,046 (GRCm39) L281P probably damaging Het
Col6a6 A T 9: 105,662,943 (GRCm39) M198K possibly damaging Het
Crocc G A 4: 140,746,047 (GRCm39) R1691C probably damaging Het
Csf1 C T 3: 107,655,595 (GRCm39) V90M probably damaging Het
Cul2 T G 18: 3,414,164 (GRCm39) M86R probably benign Het
Dbndd2 T C 2: 164,330,584 (GRCm39) F79S probably damaging Het
Dkk1 G T 19: 30,526,678 (GRCm39) N34K possibly damaging Het
Dnah6 T A 6: 73,158,745 (GRCm39) L619F probably benign Het
Eif2b5 T C 16: 20,325,787 (GRCm39) V588A probably damaging Het
Elf3 A T 1: 135,184,875 (GRCm39) Y104N probably damaging Het
Fahd2a T C 2: 127,278,530 (GRCm39) D272G probably damaging Het
Fbxw15 A T 9: 109,387,271 (GRCm39) C188* probably null Het
Fbxw8 T C 5: 118,266,941 (GRCm39) Y174C probably benign Het
Gnl1 C A 17: 36,299,584 (GRCm39) P585Q possibly damaging Het
Greb1l T C 18: 10,498,992 (GRCm39) S292P probably benign Het
Gsk3b G A 16: 38,037,446 (GRCm39) probably null Het
Hcls1 C T 16: 36,783,005 (GRCm39) P452L probably damaging Het
Hdlbp A T 1: 93,350,007 (GRCm39) probably benign Het
Hecw1 A G 13: 14,552,525 (GRCm39) S25P probably damaging Het
Hells T C 19: 38,928,928 (GRCm39) V100A probably benign Het
Isl1 C T 13: 116,439,866 (GRCm39) E161K probably benign Het
Klra9 G T 6: 130,162,555 (GRCm39) N160K possibly damaging Het
Lama4 T C 10: 38,936,182 (GRCm39) V619A probably damaging Het
Mpc1 G A 17: 8,515,710 (GRCm39) R134Q possibly damaging Het
Myo5c A T 9: 75,199,523 (GRCm39) N1377I probably benign Het
Myrf T C 19: 10,195,596 (GRCm39) I607V probably benign Het
Or2g1 T G 17: 38,107,075 (GRCm39) S247A probably benign Het
Pik3c2b A G 1: 132,994,654 (GRCm39) D206G possibly damaging Het
Pipox A G 11: 77,773,568 (GRCm39) Y228H probably damaging Het
Pitrm1 T A 13: 6,610,131 (GRCm39) V401D possibly damaging Het
Plod1 C T 4: 148,010,657 (GRCm39) E265K probably damaging Het
Ptpn21 A T 12: 98,646,664 (GRCm39) probably null Het
Qars1 C T 9: 108,391,282 (GRCm39) Q7* probably null Het
Rpap2 T A 5: 107,780,961 (GRCm39) V479E possibly damaging Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Rusc2 A G 4: 43,421,749 (GRCm39) Y723C probably damaging Het
Ryr2 A T 13: 11,765,818 (GRCm39) M1306K probably benign Het
Sesn3 A C 9: 14,219,941 (GRCm39) Y110S probably damaging Het
Sgce C T 6: 4,691,511 (GRCm39) V319I probably benign Het
Slc15a5 G T 6: 138,056,762 (GRCm39) F51L possibly damaging Het
Slit2 T A 5: 48,395,765 (GRCm39) C723S probably damaging Het
Sncaip A G 18: 53,027,862 (GRCm39) probably null Het
Snx2 T A 18: 53,330,950 (GRCm39) D138E probably damaging Het
Spef2 A T 15: 9,729,740 (GRCm39) L126* probably null Het
Stam T C 2: 14,133,837 (GRCm39) S195P probably damaging Het
Strn T C 17: 78,990,271 (GRCm39) I82V probably benign Het
Synj2 T A 17: 6,072,412 (GRCm39) C202* probably null Het
Tecpr2 A G 12: 110,899,681 (GRCm39) D683G probably benign Het
Tfec A G 6: 16,835,307 (GRCm39) V157A probably damaging Het
Tff1 T G 17: 31,383,912 (GRCm39) Q28P probably benign Het
Vmn2r86 A G 10: 130,288,314 (GRCm39) Y396H probably damaging Het
Vmn2r87 A T 10: 130,307,829 (GRCm39) M803K probably damaging Het
Vmn2r90 A G 17: 17,953,566 (GRCm39) K577E probably damaging Het
Vrk1 T C 12: 106,002,799 (GRCm39) probably benign Het
Wdr20 A G 12: 110,760,157 (GRCm39) T348A probably benign Het
Other mutations in Or8g53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Or8g53 APN 9 39,683,407 (GRCm39) missense possibly damaging 0.78
IGL01109:Or8g53 APN 9 39,683,293 (GRCm39) missense probably benign 0.06
IGL01809:Or8g53 APN 9 39,683,990 (GRCm39) nonsense probably null
IGL02517:Or8g53 APN 9 39,683,800 (GRCm39) missense probably damaging 0.98
IGL02708:Or8g53 APN 9 39,683,214 (GRCm39) missense probably damaging 1.00
IGL03061:Or8g53 APN 9 39,683,458 (GRCm39) missense probably benign 0.41
K3955:Or8g53 UTSW 9 39,683,469 (GRCm39) missense probably benign 0.00
R1786:Or8g53 UTSW 9 39,683,791 (GRCm39) missense probably benign 0.00
R2424:Or8g53 UTSW 9 39,683,593 (GRCm39) missense probably benign 0.39
R3016:Or8g53 UTSW 9 39,683,979 (GRCm39) missense probably benign 0.41
R3862:Or8g53 UTSW 9 39,683,920 (GRCm39) missense probably benign 0.39
R5987:Or8g53 UTSW 9 39,683,836 (GRCm39) missense probably benign 0.00
R5995:Or8g53 UTSW 9 39,683,988 (GRCm39) missense probably benign 0.03
R6184:Or8g53 UTSW 9 39,683,916 (GRCm39) missense probably damaging 1.00
R6297:Or8g53 UTSW 9 39,683,522 (GRCm39) missense possibly damaging 0.45
R7402:Or8g53 UTSW 9 39,683,260 (GRCm39) missense probably benign 0.45
R7650:Or8g53 UTSW 9 39,683,169 (GRCm39) missense probably benign 0.01
R8179:Or8g53 UTSW 9 39,683,200 (GRCm39) missense probably benign 0.00
R8832:Or8g53 UTSW 9 39,683,886 (GRCm39) missense probably damaging 1.00
R8987:Or8g53 UTSW 9 39,683,688 (GRCm39) missense probably benign 0.35
R9019:Or8g53 UTSW 9 39,684,038 (GRCm39) missense probably benign
R9099:Or8g53 UTSW 9 39,683,514 (GRCm39) missense
R9185:Or8g53 UTSW 9 39,683,404 (GRCm39) missense probably benign 0.21
X0028:Or8g53 UTSW 9 39,684,090 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCTGAACTATTTGTCAGCCCTC -3'
(R):5'- TGGTGCCACAACTCAAACAG -3'

Sequencing Primer
(F):5'- GAACTATTTGTCAGCCCTCTAACAAG -3'
(R):5'- AGTGCATTTTTGTAAGGCCAATG -3'
Posted On 2014-06-30