Incidental Mutation 'R0123:Or8k53'
ID 21147
Institutional Source Beutler Lab
Gene Symbol Or8k53
Ensembl Gene ENSMUSG00000075189
Gene Name olfactory receptor family 8 subfamily K member 53
Synonyms MOR186-1, GA_x6K02T2Q125-47819205-47818258, Olfr1055
MMRRC Submission 038408-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0123 (G1)
Quality Score 224
Status Validated (trace)
Chromosome 2
Chromosomal Location 86177068-86178108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86178072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 13 (I13V)
Ref Sequence ENSEMBL: ENSMUSP00000149219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099894] [ENSMUST00000188023] [ENSMUST00000213564]
AlphaFold A2AVX9
Predicted Effect possibly damaging
Transcript: ENSMUST00000099894
AA Change: I13V

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097479
Gene: ENSMUSG00000075189
AA Change: I13V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 7.3e-49 PFAM
Pfam:7tm_1 41 290 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188023
AA Change: I13V

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140847
Gene: ENSMUSG00000075189
AA Change: I13V

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 5.7e-30 PFAM
Pfam:7tm_4 139 283 9.2e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213564
AA Change: I13V

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency 99% (71/72)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik T C 19: 21,575,565 (GRCm39) probably benign Het
Abca16 T A 7: 120,139,378 (GRCm39) L1470Q probably damaging Het
Abraxas2 G A 7: 132,476,584 (GRCm39) R105Q probably damaging Het
Becn1 A G 11: 101,181,324 (GRCm39) Y326H probably damaging Het
Bicd1 T C 6: 149,414,448 (GRCm39) I387T probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Cacna1g T A 11: 94,300,302 (GRCm39) H2156L probably damaging Het
Cd22 A G 7: 30,566,533 (GRCm39) probably benign Het
Cd59b G A 2: 103,909,286 (GRCm39) probably null Het
Chn2 T C 6: 54,267,436 (GRCm39) probably benign Het
Cmya5 A G 13: 93,232,412 (GRCm39) L892P possibly damaging Het
Col5a2 A G 1: 45,446,195 (GRCm39) I461T probably benign Het
Cts8 T A 13: 61,401,391 (GRCm39) M75L probably benign Het
Ddx50 A T 10: 62,457,156 (GRCm39) probably benign Het
Dlg5 T C 14: 24,197,274 (GRCm39) M1558V probably benign Het
Dnlz T C 2: 26,241,380 (GRCm39) N116S probably damaging Het
Efcab14 T C 4: 115,597,728 (GRCm39) F108L probably damaging Het
Ell2 T C 13: 75,910,259 (GRCm39) probably benign Het
Fam234b T G 6: 135,194,072 (GRCm39) S242A possibly damaging Het
Fhip2a G A 19: 57,369,839 (GRCm39) D461N probably benign Het
Garnl3 T C 2: 32,896,816 (GRCm39) T608A possibly damaging Het
Gata3 T C 2: 9,879,620 (GRCm39) T119A probably benign Het
Hdac2 T A 10: 36,865,180 (GRCm39) D131E probably benign Het
Hira T A 16: 18,774,921 (GRCm39) F949I probably benign Het
Il3 A G 11: 54,156,506 (GRCm39) probably null Het
Itgb3 A T 11: 104,527,914 (GRCm39) K216N probably damaging Het
Jkampl A G 6: 73,446,402 (GRCm39) L49P possibly damaging Het
Kctd21 T A 7: 96,997,298 (GRCm39) I257N probably benign Het
Kif16b A T 2: 142,514,295 (GRCm39) S1215T probably benign Het
Lhx9 A T 1: 138,766,417 (GRCm39) C124S probably damaging Het
Lrch3 T A 16: 32,782,124 (GRCm39) probably benign Het
Lrp1b T C 2: 40,486,995 (GRCm39) E142G probably damaging Het
Macf1 T C 4: 123,326,636 (GRCm39) M2835V possibly damaging Het
Mndal A T 1: 173,685,079 (GRCm39) probably benign Het
Mug2 G T 6: 122,051,673 (GRCm39) V952L possibly damaging Het
Nepn A T 10: 52,276,533 (GRCm39) T29S probably damaging Het
Nlgn1 C T 3: 25,490,089 (GRCm39) C546Y probably damaging Het
Notch4 C T 17: 34,784,337 (GRCm39) R43W possibly damaging Het
Nrxn1 A T 17: 91,302,915 (GRCm39) probably null Het
Or14a260 A G 7: 85,984,803 (GRCm39) I267T probably benign Het
Phf3 A T 1: 30,844,146 (GRCm39) D1604E probably benign Het
Plekhn1 T C 4: 156,312,700 (GRCm39) R53G probably benign Het
Pnp2 T C 14: 51,200,634 (GRCm39) F100S probably damaging Het
Rimoc1 T C 15: 4,015,776 (GRCm39) K263E probably damaging Het
Rxfp1 A G 3: 79,564,783 (GRCm39) S327P probably damaging Het
Siah2 A G 3: 58,583,536 (GRCm39) V250A probably damaging Het
Slc10a7 T A 8: 79,423,787 (GRCm39) probably null Het
Slc9a1 A G 4: 133,147,916 (GRCm39) K645E probably benign Het
Smarca4 T C 9: 21,548,620 (GRCm39) L302P probably damaging Het
Tas2r120 T A 6: 132,634,552 (GRCm39) Y211* probably null Het
Tenm3 A T 8: 49,127,507 (GRCm39) L57Q probably damaging Het
Tep1 C T 14: 51,067,150 (GRCm39) V2269I possibly damaging Het
Tpd52l1 A G 10: 31,255,252 (GRCm39) S32P probably damaging Het
Tsfm A G 10: 126,858,798 (GRCm39) probably benign Het
Ttn T A 2: 76,540,468 (GRCm39) R34173W probably damaging Het
Ttn C A 2: 76,623,474 (GRCm39) V15368L possibly damaging Het
Upk1a A T 7: 30,311,819 (GRCm39) I25N possibly damaging Het
Vmn1r45 A T 6: 89,910,492 (GRCm39) Y159* probably null Het
Vmn2r13 C A 5: 109,322,915 (GRCm39) V125L probably benign Het
Vps13b T C 15: 35,887,407 (GRCm39) I3272T probably benign Het
Zfp108 A G 7: 23,959,892 (GRCm39) H161R probably benign Het
Zfp982 A T 4: 147,597,093 (GRCm39) K150I probably benign Het
Zfyve1 A G 12: 83,601,847 (GRCm39) probably benign Het
Zswim8 T C 14: 20,766,558 (GRCm39) probably benign Het
Other mutations in Or8k53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Or8k53 APN 2 86,178,077 (GRCm39) missense possibly damaging 0.71
IGL02524:Or8k53 APN 2 86,177,686 (GRCm39) missense probably damaging 1.00
R0134:Or8k53 UTSW 2 86,178,072 (GRCm39) missense possibly damaging 0.46
R0225:Or8k53 UTSW 2 86,178,072 (GRCm39) missense possibly damaging 0.46
R1981:Or8k53 UTSW 2 86,177,486 (GRCm39) missense possibly damaging 0.94
R4181:Or8k53 UTSW 2 86,177,581 (GRCm39) missense probably damaging 1.00
R5011:Or8k53 UTSW 2 86,177,647 (GRCm39) missense probably benign 0.00
R5013:Or8k53 UTSW 2 86,177,647 (GRCm39) missense probably benign 0.00
R5077:Or8k53 UTSW 2 86,177,683 (GRCm39) missense probably benign 0.00
R6312:Or8k53 UTSW 2 86,177,925 (GRCm39) missense probably damaging 1.00
R6345:Or8k53 UTSW 2 86,177,892 (GRCm39) missense probably damaging 1.00
R6591:Or8k53 UTSW 2 86,177,763 (GRCm39) missense probably damaging 1.00
R6626:Or8k53 UTSW 2 86,177,364 (GRCm39) missense possibly damaging 0.81
R6680:Or8k53 UTSW 2 86,177,589 (GRCm39) missense probably damaging 1.00
R6691:Or8k53 UTSW 2 86,177,763 (GRCm39) missense probably damaging 1.00
R7447:Or8k53 UTSW 2 86,177,150 (GRCm39) missense possibly damaging 0.86
R7622:Or8k53 UTSW 2 86,178,006 (GRCm39) missense possibly damaging 0.61
R8114:Or8k53 UTSW 2 86,177,530 (GRCm39) missense probably benign 0.00
R8138:Or8k53 UTSW 2 86,177,930 (GRCm39) missense possibly damaging 0.81
R8242:Or8k53 UTSW 2 86,177,426 (GRCm39) missense probably damaging 0.99
R8260:Or8k53 UTSW 2 86,177,276 (GRCm39) missense possibly damaging 0.65
R8360:Or8k53 UTSW 2 86,177,668 (GRCm39) missense possibly damaging 0.79
R8433:Or8k53 UTSW 2 86,177,144 (GRCm39) missense unknown
R8927:Or8k53 UTSW 2 86,178,090 (GRCm39) missense possibly damaging 0.92
R8928:Or8k53 UTSW 2 86,178,090 (GRCm39) missense possibly damaging 0.92
R9150:Or8k53 UTSW 2 86,177,336 (GRCm39) missense probably damaging 0.99
R9291:Or8k53 UTSW 2 86,177,768 (GRCm39) missense probably benign 0.14
R9487:Or8k53 UTSW 2 86,177,846 (GRCm39) missense probably benign 0.10
R9712:Or8k53 UTSW 2 86,177,583 (GRCm39) missense probably benign 0.22
Z1176:Or8k53 UTSW 2 86,177,227 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GCTGGACTGAGCACCAAATATAGGAAA -3'
(R):5'- GTGACACTGCTGATGCTTCTTATCCAT -3'

Sequencing Primer
(F):5'- TTATTAACATCTTAGGCCCCACAG -3'
(R):5'- CTCCCATTGACAGAAAAGTGTTCAG -3'
Posted On 2013-04-11