Incidental Mutation 'R5453:Or12d13'
ID 432646
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 043017-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R5453 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 37647180-37648121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37647953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 57 (M57V)
Ref Sequence ENSEMBL: ENSMUSP00000134539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058826] [ENSMUST00000173472]
AlphaFold Q920Y8
Predicted Effect possibly damaging
Transcript: ENSMUST00000058826
AA Change: M57V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000094934
Gene: ENSMUSG00000049618
AA Change: M57V

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 3.5e-52 PFAM
Pfam:7tm_1 39 289 3.8e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000173472
AA Change: M57V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134539
Gene: ENSMUSG00000049618
AA Change: M57V

DomainStartEndE-ValueType
Pfam:7tm_1 39 289 2.8e-31 PFAM
Pfam:7tm_4 137 282 1.1e-38 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,210,622 (GRCm39) Q186* probably null Het
Adamts20 T C 15: 94,223,969 (GRCm39) E1253G possibly damaging Het
Adgrd1 T C 5: 129,256,647 (GRCm39) F640S probably damaging Het
Anxa1 C T 19: 20,357,703 (GRCm39) probably null Het
Babam2 A G 5: 32,164,590 (GRCm39) E288G probably damaging Het
Cd163 C T 6: 124,289,500 (GRCm39) A406V probably damaging Het
Cdh13 A T 8: 119,925,706 (GRCm39) D358V probably damaging Het
Cdk10 A G 8: 123,953,131 (GRCm39) I45V probably benign Het
Crybg2 A T 4: 133,806,147 (GRCm39) probably null Het
Dnhd1 A G 7: 105,359,330 (GRCm39) D3555G probably damaging Het
Dync1h1 A G 12: 110,599,099 (GRCm39) D1818G probably benign Het
Emsy T C 7: 98,250,013 (GRCm39) K758R probably damaging Het
Fat3 A G 9: 15,908,160 (GRCm39) V2614A probably damaging Het
Hivep2 T C 10: 14,003,972 (GRCm39) I190T possibly damaging Het
Hoxb3 T C 11: 96,235,480 (GRCm39) S136P probably damaging Het
Hras A C 7: 140,772,768 (GRCm39) V29G probably damaging Het
Hycc1 A G 5: 24,192,877 (GRCm39) probably null Het
Igll1 A G 16: 16,681,558 (GRCm39) probably null Het
Insr G A 8: 3,205,694 (GRCm39) T1365I probably benign Het
Kitl T A 10: 99,923,247 (GRCm39) W187R probably damaging Het
Klb T A 5: 65,540,728 (GRCm39) F940L probably benign Het
Lrp1b C T 2: 41,172,249 (GRCm39) R725K probably damaging Het
Map4 C T 9: 109,866,851 (GRCm39) probably benign Het
Mrps35 A G 6: 146,972,115 (GRCm39) S253G probably benign Het
Mycbp2 C T 14: 103,438,837 (GRCm39) E2015K probably damaging Het
Nyap2 A C 1: 81,169,857 (GRCm39) I205L probably benign Het
Or6k14 A G 1: 173,927,033 (GRCm39) K3R probably benign Het
Rab11fip3 C T 17: 26,211,555 (GRCm39) probably null Het
Rbm47 A G 5: 66,184,525 (GRCm39) V26A probably benign Het
Ripk2 A T 4: 16,151,989 (GRCm39) I190N probably damaging Het
Spmip4 A G 6: 50,572,776 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ttc17 A T 2: 94,133,905 (GRCm39) N1150K probably damaging Het
Zfp108 G T 7: 23,960,689 (GRCm39) G427W probably damaging Het
Zfp84 A G 7: 29,475,722 (GRCm39) E138G possibly damaging 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
R1078:Or12d13 UTSW 17 37,647,917 (GRCm39) missense probably damaging 0.98
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
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'- GCGGTCAAATGCCATCACTG -3'
(R):5'- TGGTTGCATTCGACAAACTATG -3'

Sequencing Primer
(F):5'- GGTCAAATGCCATCACTGCTAGC -3'
(R):5'- GCATTCGACAAACTATGCTGTG -3'
Posted On 2016-10-06