Incidental Mutation 'R1078:Or12d13'
ID 85761
Institutional Source Beutler Lab
Gene Symbol Or12d13
Ensembl Gene ENSMUSG00000049618
Gene Name olfactory receptor family 12 subfamily D member 13
Synonyms MOR250-3, Olfr103, MOR250-8_p, GA_x6K02T2PSCP-1798423-1797482
MMRRC Submission 039164-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R1078 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 37647180-37648121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37647917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 69 (I69F)
Ref Sequence ENSEMBL: ENSMUSP00000134539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058826] [ENSMUST00000173472]
AlphaFold Q920Y8
Predicted Effect probably damaging
Transcript: ENSMUST00000058826
AA Change: I69F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094934
Gene: ENSMUSG00000049618
AA Change: I69F

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 3.5e-52 PFAM
Pfam:7tm_1 39 289 3.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173472
AA Change: I69F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134539
Gene: ENSMUSG00000049618
AA Change: I69F

DomainStartEndE-ValueType
Pfam:7tm_1 39 289 2.8e-31 PFAM
Pfam:7tm_4 137 282 1.1e-38 PFAM
Meta Mutation Damage Score 0.4279 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.4%
  • 20x: 94.4%
Validation Efficiency 96% (53/55)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik T C 5: 66,145,698 (GRCm39) T138A unknown Het
Abi3bp T C 16: 56,474,444 (GRCm39) probably null Het
Alpk3 A T 7: 80,728,348 (GRCm39) M493L probably benign Het
Bace2 C T 16: 97,158,060 (GRCm39) A20V unknown Het
Bms1 T C 6: 118,382,182 (GRCm39) D452G probably benign Het
Ccdc187 T C 2: 26,184,389 (GRCm39) T3A probably damaging Het
Ctu2 T C 8: 123,208,238 (GRCm39) V95A possibly damaging Het
Cyp2a5 A G 7: 26,534,966 (GRCm39) K60E probably benign Het
Cyp4f13 T C 17: 33,144,542 (GRCm39) H318R probably damaging Het
Dlgap5 G A 14: 47,637,023 (GRCm39) T485M probably damaging Het
Dsp C T 13: 38,367,082 (GRCm39) probably benign Het
Ell2 T C 13: 75,894,538 (GRCm39) probably benign Het
Eml2 A T 7: 18,913,687 (GRCm39) Y168F probably benign Het
Entrep1 T A 19: 23,950,939 (GRCm39) R547S probably benign Het
Ep400 C T 5: 110,883,388 (GRCm39) probably benign Het
Ercc4 C A 16: 12,948,061 (GRCm39) A336D probably benign Het
Fat4 T C 3: 39,037,235 (GRCm39) L3629S probably benign Het
Gabbr2 C T 4: 46,664,833 (GRCm39) R925H probably damaging Het
Gfi1b A T 2: 28,503,877 (GRCm39) W108R probably damaging Het
Gtse1 C T 15: 85,746,508 (GRCm39) P108L probably damaging Het
Hfm1 A T 5: 107,026,696 (GRCm39) F140I probably damaging Het
Hyal2 T A 9: 107,449,445 (GRCm39) H400Q probably benign Het
Igfn1 A G 1: 135,902,585 (GRCm39) Y371H probably damaging Het
Il22b T G 10: 118,126,056 (GRCm39) *180C probably null Het
Kdm2b T C 5: 123,099,604 (GRCm39) T118A possibly damaging Het
Lama5 A T 2: 179,821,557 (GRCm39) probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lmo7 C T 14: 102,157,910 (GRCm39) probably benign Het
Lrrc37a G T 11: 103,388,457 (GRCm39) P2323T unknown Het
Lrrc38 A G 4: 143,077,088 (GRCm39) Y117C probably benign Het
Myo1e T C 9: 70,291,281 (GRCm39) V1024A probably benign Het
Myrfl T C 10: 116,612,637 (GRCm39) N904S possibly damaging Het
Or4k47 T C 2: 111,451,690 (GRCm39) H243R probably damaging Het
Or9g4b T C 2: 85,616,437 (GRCm39) V194A possibly damaging Het
Pld4 A T 12: 112,729,876 (GRCm39) I53F probably benign Het
Plekhg4 T A 8: 106,108,309 (GRCm39) C1117* probably null Het
Prss39 G A 1: 34,541,167 (GRCm39) E224K probably benign Het
Psme1 G T 14: 55,818,107 (GRCm39) G149V probably damaging Het
Sanbr A C 11: 23,561,762 (GRCm39) I358S probably benign Het
Soat2 T A 15: 102,061,573 (GRCm39) probably null Het
Stab2 C T 10: 86,742,997 (GRCm39) probably null Het
Tcf7l2 A G 19: 55,731,627 (GRCm39) T127A probably benign Het
Tcp1 T C 17: 13,142,091 (GRCm39) probably benign Het
Thbs4 G A 13: 92,899,434 (GRCm39) probably benign Het
Tmf1 T C 6: 97,150,261 (GRCm39) D482G probably damaging Het
Trim66 G T 7: 109,071,526 (GRCm39) P591H probably damaging Het
Umodl1 T C 17: 31,178,347 (GRCm39) S108P probably benign Het
Unc79 T G 12: 103,041,112 (GRCm39) M715R probably benign Het
Usp34 C A 11: 23,383,175 (GRCm39) probably benign Het
Utrn T G 10: 12,331,310 (GRCm39) probably null Het
Zfp830 T C 11: 82,656,165 (GRCm39) probably null Het
Other mutations in Or12d13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Or12d13 APN 17 37,647,474 (GRCm39) nonsense probably null
IGL01953:Or12d13 APN 17 37,647,766 (GRCm39) missense probably damaging 1.00
IGL02556:Or12d13 APN 17 37,647,887 (GRCm39) missense probably benign 0.00
IGL02574:Or12d13 APN 17 37,647,415 (GRCm39) missense probably damaging 1.00
IGL02737:Or12d13 APN 17 37,647,664 (GRCm39) missense possibly damaging 0.94
IGL02995:Or12d13 APN 17 37,647,600 (GRCm39) missense probably damaging 1.00
R1466:Or12d13 UTSW 17 37,647,847 (GRCm39) missense probably benign 0.43
R1466:Or12d13 UTSW 17 37,647,847 (GRCm39) missense probably benign 0.43
R3024:Or12d13 UTSW 17 37,647,918 (GRCm39) missense probably damaging 1.00
R3858:Or12d13 UTSW 17 37,648,117 (GRCm39) nonsense probably null
R4979:Or12d13 UTSW 17 37,647,759 (GRCm39) missense probably benign 0.06
R5062:Or12d13 UTSW 17 37,647,822 (GRCm39) missense probably damaging 0.99
R5215:Or12d13 UTSW 17 37,647,704 (GRCm39) missense probably benign 0.00
R5441:Or12d13 UTSW 17 37,647,159 (GRCm39) splice site probably null
R5453:Or12d13 UTSW 17 37,647,953 (GRCm39) missense possibly damaging 0.96
R5525:Or12d13 UTSW 17 37,647,517 (GRCm39) missense probably damaging 0.99
R5660:Or12d13 UTSW 17 37,647,535 (GRCm39) missense probably damaging 1.00
R5859:Or12d13 UTSW 17 37,647,260 (GRCm39) missense possibly damaging 0.61
R6211:Or12d13 UTSW 17 37,647,599 (GRCm39) missense possibly damaging 0.90
R6958:Or12d13 UTSW 17 37,647,308 (GRCm39) missense probably benign
R7060:Or12d13 UTSW 17 37,647,352 (GRCm39) missense probably benign 0.02
R7567:Or12d13 UTSW 17 37,648,062 (GRCm39) missense probably benign 0.00
R7784:Or12d13 UTSW 17 37,647,946 (GRCm39) missense probably damaging 0.99
R7784:Or12d13 UTSW 17 37,647,469 (GRCm39) missense probably benign 0.13
R7978:Or12d13 UTSW 17 37,647,392 (GRCm39) missense probably benign 0.00
R8284:Or12d13 UTSW 17 37,647,587 (GRCm39) missense probably benign 0.01
R8419:Or12d13 UTSW 17 37,647,466 (GRCm39) missense possibly damaging 0.75
R8957:Or12d13 UTSW 17 37,647,382 (GRCm39) missense probably damaging 1.00
R9761:Or12d13 UTSW 17 37,648,057 (GRCm39) missense possibly damaging 0.81
Z1088:Or12d13 UTSW 17 37,647,596 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGTCCAGATGGTCACAGCCATAAG -3'
(R):5'- AGATTGGCCTCATTCCTGGTTGC -3'

Sequencing Primer
(F):5'- GATACAGACCTGCCAATTCATGATG -3'
(R):5'- CCTGGTTGCATTCGACAAACTATG -3'
Posted On 2013-11-18