Incidental Mutation 'R6184:Or8g53'
ID 488149
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 # R6184 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 39683068-39684094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 39683916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 60 (Y60S)
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: Y60S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096472
Gene: ENSMUSG00000095903
AA Change: Y60S

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: Y60S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik A G 12: 17,057,179 (GRCm39) F106S probably benign Het
Adgrv1 A T 13: 81,581,957 (GRCm39) F4696I probably benign Het
Ank2 T C 3: 126,756,047 (GRCm39) I1073V probably damaging Het
Card11 A T 5: 140,884,033 (GRCm39) D415E probably damaging Het
Clec16a G A 16: 10,390,792 (GRCm39) probably null Het
Coro2a T C 4: 46,540,504 (GRCm39) T472A probably benign Het
D130043K22Rik T A 13: 25,069,574 (GRCm39) F878I probably damaging Het
D5Ertd579e G T 5: 36,787,127 (GRCm39) D80E probably damaging Het
Ddrgk1 A T 2: 130,506,481 (GRCm39) V2E possibly damaging Het
Disp1 T C 1: 182,867,896 (GRCm39) H1508R probably benign Het
Dmtf1 T C 5: 9,176,656 (GRCm39) N344S probably benign Het
Eml5 A G 12: 98,829,388 (GRCm39) V503A possibly damaging Het
Fat1 A G 8: 45,406,429 (GRCm39) H1060R probably benign Het
Fbxw8 C T 5: 118,251,814 (GRCm39) R233Q probably damaging Het
Fer1l4 T C 2: 155,890,211 (GRCm39) K238R probably damaging Het
Flg T A 3: 93,187,357 (GRCm39) S270T probably benign Het
Gm10801 TC TCGCC 2: 98,494,151 (GRCm39) probably benign Het
Gm3604 A T 13: 62,519,659 (GRCm39) V32D probably damaging Het
Gnl2 T G 4: 124,948,022 (GRCm39) probably null Het
Gpr162 A G 6: 124,838,204 (GRCm39) S149P probably damaging Het
Il2ra T A 2: 11,652,790 (GRCm39) probably benign Het
Kics2 T C 10: 121,586,810 (GRCm39) L375P probably damaging Het
Kmt5b T A 19: 3,854,499 (GRCm39) M254K probably damaging Het
Lrriq3 T C 3: 154,835,039 (GRCm39) I258T probably benign Het
Mbnl1 T C 3: 60,523,165 (GRCm39) L328S probably damaging Het
Mboat2 A G 12: 25,001,430 (GRCm39) D277G possibly damaging Het
Mug2 A G 6: 122,014,005 (GRCm39) I364V probably benign Het
Myh7 G A 14: 55,226,315 (GRCm39) R442C probably damaging Het
Nin A G 12: 70,090,511 (GRCm39) L968P probably damaging Het
Or1l8 T C 2: 36,817,404 (GRCm39) T241A probably damaging Het
Or5w14 A T 2: 87,542,188 (GRCm39) Y21N probably benign Het
Per1 C T 11: 68,993,730 (GRCm39) P403S probably damaging Het
Ppip5k2 T C 1: 97,661,730 (GRCm39) I723V possibly damaging Het
Ptprg A G 14: 12,153,943 (GRCm38) T555A probably benign Het
Rgsl1 C T 1: 153,703,194 (GRCm39) M187I probably benign Het
Sec31a A G 5: 100,517,453 (GRCm39) probably null Het
Sptbn5 C T 2: 119,889,898 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Stx1b G A 7: 127,407,077 (GRCm39) T206I possibly damaging Het
Tsc22d4 T A 5: 137,757,351 (GRCm39) M35K probably damaging Het
Zc2hc1c A G 12: 85,343,218 (GRCm39) K452E probably damaging Het
Zfp386 A G 12: 116,024,133 (GRCm39) N582S possibly damaging Het
Zfp457 A G 13: 67,440,976 (GRCm39) V437A possibly damaging Het
Zfp599 T C 9: 22,160,947 (GRCm39) Y406C probably benign Het
Zfyve26 G A 12: 79,315,501 (GRCm39) S1325F probably damaging 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
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
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'- GCAACATAGCGGTCATATGCC -3'
(R):5'- ACCTTTCTATAGAACTCCCAGAAG -3'

Sequencing Primer
(F):5'- TAGCGGTCATATGCCATTACAGC -3'
(R):5'- TCCCAGAAGAAAATGTTCCAAGG -3'
Posted On 2017-10-10