Incidental Mutation 'K3955:Or8g53'
ID 67239
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # K3955 (G3) of strain 706
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 39683068-39684094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39683469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 209 (I209T)
Ref Sequence ENSEMBL: ENSMUSP00000148969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075928] [ENSMUST00000216458]
AlphaFold Q8VFN4
Predicted Effect probably benign
Transcript: ENSMUST00000075928
AA Change: I209T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096472
Gene: ENSMUSG00000095903
AA Change: I209T

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1e-51 PFAM
Pfam:7tm_1 41 290 2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216458
AA Change: I209T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 100% (42/42)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 G A 1: 89,815,326 (GRCm39) R738H probably damaging Het
Arhgap28 T C 17: 68,311,001 (GRCm39) E2G probably damaging Het
Atad2b C A 12: 5,004,536 (GRCm39) probably benign Het
Atmin T A 8: 117,683,775 (GRCm39) C478* probably null Het
Calr T C 8: 85,572,902 (GRCm39) Y57C probably damaging Het
Cdh13 G A 8: 119,401,843 (GRCm39) V82M probably damaging Het
Ces3a A T 8: 105,777,259 (GRCm39) probably benign Het
Dmbt1 T C 7: 130,721,293 (GRCm39) Y1854H probably damaging Het
Dnah1 T A 14: 30,988,416 (GRCm39) M3429L probably benign Het
Dscam A G 16: 96,474,887 (GRCm39) F1225S probably benign Het
E030025P04Rik G A 11: 109,034,778 (GRCm39) P37S unknown Het
Eral1 A T 11: 77,966,847 (GRCm39) D189E probably damaging Het
Fbxw14 G T 9: 109,105,313 (GRCm39) P284Q possibly damaging Het
Fcrl6 A G 1: 172,425,251 (GRCm39) V260A probably benign Het
Fezf2 A T 14: 12,345,097 (GRCm38) F30Y probably damaging Het
Gjb4 A T 4: 127,245,293 (GRCm39) V216D probably benign Het
Gm9758 G A 5: 14,963,522 (GRCm39) probably benign Het
Gm9758 C G 5: 14,963,553 (GRCm39) V92L probably benign Het
Gmps A C 3: 63,908,954 (GRCm39) R485S probably damaging Het
Gtdc1 C T 2: 44,642,233 (GRCm39) probably null Het
H2-Ob C T 17: 34,460,158 (GRCm39) R19C probably damaging Het
Lars2 T C 9: 123,206,842 (GRCm39) V103A probably damaging Het
Mtrex A C 13: 113,047,513 (GRCm39) Y277* probably null Het
Ndnf G A 6: 65,678,413 (GRCm39) probably benign Het
Nectin1 A G 9: 43,703,375 (GRCm39) Y211C probably damaging Het
Notch4 C T 17: 34,787,436 (GRCm39) T332I probably damaging Het
Or13c25 A G 4: 52,911,081 (GRCm39) F238L probably damaging Het
Or8g28 A C 9: 39,169,926 (GRCm39) L14W probably damaging Het
Paf1 T C 7: 28,096,350 (GRCm39) probably null Het
Pcdhb1 G T 18: 37,399,026 (GRCm39) G326C probably damaging Het
Plcl1 A G 1: 55,737,098 (GRCm39) Y813C possibly damaging Het
Pramel25 T C 4: 143,521,710 (GRCm39) I442T possibly damaging Het
Prkcq T C 2: 11,251,604 (GRCm39) probably benign Het
Proser3 G T 7: 30,242,924 (GRCm39) P218T probably damaging Het
Rccd1 G A 7: 79,970,419 (GRCm39) S66F probably benign Het
Recql G T 6: 142,323,932 (GRCm39) S54* probably null Het
Samd15 G T 12: 87,247,534 (GRCm39) G73V probably benign Het
Siglec1 T C 2: 130,923,359 (GRCm39) N462S probably benign Het
Syne2 G T 12: 75,977,439 (GRCm39) A1296S probably damaging Het
Tlk1 T C 2: 70,552,045 (GRCm39) E542G possibly damaging Het
Tnks1bp1 C T 2: 84,892,755 (GRCm39) T232I probably benign Het
Tnrc6c T A 11: 117,651,564 (GRCm39) Y1696N probably damaging Het
Uggt1 A G 1: 36,201,434 (GRCm39) I1102T probably benign Het
Vmn1r84 C T 7: 12,095,884 (GRCm39) V270M probably damaging Het
Wasf1 C T 10: 40,812,191 (GRCm39) P327S unknown 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
R1786:Or8g53 UTSW 9 39,683,791 (GRCm39) missense probably benign 0.00
R1897:Or8g53 UTSW 9 39,683,361 (GRCm39) missense probably damaging 0.99
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'- AGCAAGCTGAACTATTTGTCAGCCC -3'
(R):5'- CGCTATGTTGCCATTTGTAAGCCC -3'

Sequencing Primer
(F):5'- TTCCTCAGGCTGTAGATCAAAGG -3'
(R):5'- AAGCCCTTGCTTTACAATGCTG -3'
Posted On 2013-09-03