Incidental Mutation 'R1443:Or13a1'
ID 158648
Institutional Source Beutler Lab
Gene Symbol Or13a1
Ensembl Gene ENSMUSG00000053391
Gene Name olfactory receptor family 13 subfamily A member 1
Synonyms GA_x54KRFPKN04-58127726-58128655, Olfr211, MOR253-9
MMRRC Submission 039498-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.640) question?
Stock # R1443 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 116469630-116471501 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116471386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 272 (L272S)
Ref Sequence ENSEMBL: ENSMUSP00000145330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065786] [ENSMUST00000203700]
AlphaFold Q8VGH2
Predicted Effect probably benign
Transcript: ENSMUST00000065786
AA Change: L272S

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000066524
Gene: ENSMUSG00000053391
AA Change: L272S

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 6.2e-49 PFAM
Pfam:7TM_GPCR_Srsx 34 304 3.4e-6 PFAM
Pfam:7tm_1 40 289 4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203700
AA Change: L272S

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000145330
Gene: ENSMUSG00000053391
AA Change: L272S

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 6.2e-49 PFAM
Pfam:7TM_GPCR_Srsx 34 304 3.4e-6 PFAM
Pfam:7tm_1 40 289 4e-24 PFAM
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.2%
  • 20x: 85.7%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,706,056 (GRCm39) M99V possibly damaging Het
Adamtsl2 T A 2: 26,993,078 (GRCm39) C703S possibly damaging Het
Afap1 G T 5: 36,126,005 (GRCm39) K333N probably damaging Het
Aldh3a2 G A 11: 61,155,133 (GRCm39) S137L probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aoc1 A T 6: 48,882,379 (GRCm39) K107M possibly damaging Het
Aoc1l1 A T 6: 48,952,849 (GRCm39) Y258F probably damaging Het
Bltp2 T A 11: 78,153,624 (GRCm39) S56R probably damaging Het
Bmp8a G T 4: 123,210,758 (GRCm39) S252R possibly damaging Het
C7 T C 15: 5,088,901 (GRCm39) I13M probably benign Het
Cblb T A 16: 51,959,974 (GRCm39) D322E possibly damaging Het
Cfap54 G A 10: 92,768,583 (GRCm39) T180I probably damaging Het
Clrn2 C T 5: 45,617,453 (GRCm39) A108V probably damaging Het
Cspg4 T A 9: 56,793,796 (GRCm39) D510E probably damaging Het
Cyp2c40 A T 19: 39,766,415 (GRCm39) N393K possibly damaging Het
Dcaf5 T C 12: 80,410,843 (GRCm39) Y294C probably damaging Het
Dclk3 T A 9: 111,298,088 (GRCm39) M544K probably benign Het
Ell3 A T 2: 121,269,946 (GRCm39) F388I probably damaging Het
Fam78b A G 1: 166,906,329 (GRCm39) I163V probably damaging Het
Gnptab T C 10: 88,269,943 (GRCm39) L882P probably damaging Het
Herc2 A T 7: 55,854,481 (GRCm39) D3802V possibly damaging Het
Hs3st5 A G 10: 36,709,410 (GRCm39) E315G probably benign Het
Idh3b A T 2: 130,125,974 (GRCm39) probably null Het
Lama4 G A 10: 38,949,639 (GRCm39) E911K probably damaging Het
Macf1 A G 4: 123,404,800 (GRCm39) I436T probably damaging Het
Mgam C A 6: 40,736,714 (GRCm39) S871* probably null Het
Mtmr7 A G 8: 41,013,923 (GRCm39) S212P probably damaging Het
Mylk2 A G 2: 152,761,336 (GRCm39) T480A probably damaging Het
Myo3a A T 2: 22,287,437 (GRCm39) N191I probably damaging Het
Nanog C T 6: 122,688,734 (GRCm39) S105F probably damaging Het
Nanos2 A G 7: 18,721,564 (GRCm39) Y12C probably damaging Het
Nsg1 C T 5: 38,312,987 (GRCm39) V71I probably benign Het
Or10g3 A T 14: 52,610,408 (GRCm39) I34N probably damaging Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or51a42 A T 7: 103,707,930 (GRCm39) I293N probably damaging Het
Or5b105 G T 19: 13,080,568 (GRCm39) Y33* probably null Het
Pcdhb17 A G 18: 37,619,701 (GRCm39) Q497R probably benign Het
Pcsk7 C A 9: 45,837,284 (GRCm39) P536Q probably damaging Het
Phactr4 G A 4: 132,104,559 (GRCm39) T256I probably benign Het
Phyhip A G 14: 70,704,731 (GRCm39) K317E probably damaging Het
Pkhd1 C T 1: 20,604,782 (GRCm39) G1178R probably damaging Het
Ppp1r9a G A 6: 5,057,557 (GRCm39) G544D probably damaging Het
Ptpn3 T C 4: 57,225,775 (GRCm39) D480G probably benign Het
Ptprn2 A T 12: 117,217,235 (GRCm39) K918N probably damaging Het
Rab42 T C 4: 132,029,658 (GRCm39) D188G probably benign Het
Rasgrf2 C A 13: 92,131,795 (GRCm39) D20Y probably damaging Het
Ryr2 G A 13: 11,794,152 (GRCm39) T942I probably benign Het
Sbpl T C 17: 24,172,328 (GRCm39) K197R unknown Het
Slc44a1 T A 4: 53,561,069 (GRCm39) V595E probably damaging Het
Slc6a19 A G 13: 73,832,463 (GRCm39) M410T probably damaging Het
Sntb1 A T 15: 55,511,351 (GRCm39) L411H probably damaging Het
Synj2 A G 17: 6,073,940 (GRCm39) K245E probably damaging Het
Tasor2 T C 13: 3,625,543 (GRCm39) K1469R probably benign Het
Tmem131 G A 1: 36,864,559 (GRCm39) T558I probably damaging Het
Tnrc18 A T 5: 142,757,288 (GRCm39) S1078T unknown Het
Trmu T A 15: 85,781,302 (GRCm39) probably null Het
Ttn A T 2: 76,721,430 (GRCm39) probably benign Het
Tyw3 T C 3: 154,293,160 (GRCm39) T172A probably benign Het
Vldlr T C 19: 27,217,121 (GRCm39) I348T possibly damaging Het
Zfp114 A G 7: 23,877,194 (GRCm39) D12G probably damaging Het
Other mutations in Or13a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0681:Or13a1 UTSW 6 116,471,361 (GRCm39) missense probably damaging 1.00
R1502:Or13a1 UTSW 6 116,471,242 (GRCm39) missense probably damaging 1.00
R1962:Or13a1 UTSW 6 116,470,725 (GRCm39) missense probably benign
R2421:Or13a1 UTSW 6 116,470,674 (GRCm39) missense probably benign
R5151:Or13a1 UTSW 6 116,470,765 (GRCm39) nonsense probably null
R5844:Or13a1 UTSW 6 116,470,900 (GRCm39) missense probably damaging 1.00
R7169:Or13a1 UTSW 6 116,471,025 (GRCm39) missense probably benign 0.01
R7596:Or13a1 UTSW 6 116,471,158 (GRCm39) missense probably benign 0.02
R9131:Or13a1 UTSW 6 116,470,881 (GRCm39) missense probably benign 0.02
R9429:Or13a1 UTSW 6 116,471,292 (GRCm39) missense probably damaging 1.00
Z1176:Or13a1 UTSW 6 116,471,337 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCCATTCACACAGGACTGATGAC -3'
(R):5'- ACAGACGAGCCTTTCATATGCTCAC -3'

Sequencing Primer
(F):5'- ATGACCATTGTGTCATACGGC -3'
(R):5'- TCATATGCTCACAGGATTGCC -3'
Posted On 2014-03-14