Incidental Mutation 'IGL02556:Or12d13'
ID 298492
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL02556
Quality Score
Status
Chromosome 17
Chromosomal Location 37647180-37648121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37647887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 79 (M79L)
Ref Sequence ENSEMBL: ENSMUSP00000134539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058826] [ENSMUST00000173472]
AlphaFold Q920Y8
Predicted Effect probably benign
Transcript: ENSMUST00000058826
AA Change: M79L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000094934
Gene: ENSMUSG00000049618
AA Change: M79L

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 3.5e-52 PFAM
Pfam:7tm_1 39 289 3.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173472
AA Change: M79L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000134539
Gene: ENSMUSG00000049618
AA Change: M79L

DomainStartEndE-ValueType
Pfam:7tm_1 39 289 2.8e-31 PFAM
Pfam:7tm_4 137 282 1.1e-38 PFAM
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T G 10: 100,446,579 (GRCm39) probably null Het
Ace A G 11: 105,863,353 (GRCm39) D376G probably damaging Het
Adgrb1 C T 15: 74,458,654 (GRCm39) T1252I probably damaging Het
Bhmt T C 13: 93,774,008 (GRCm39) probably benign Het
Ckap5 T C 2: 91,425,186 (GRCm39) probably benign Het
Clcn4 T C 7: 7,299,065 (GRCm39) T37A probably benign Het
Cnmd C T 14: 79,899,400 (GRCm39) V18I probably benign Het
Cryl1 C T 14: 57,513,478 (GRCm39) V248M probably benign Het
D830039M14Rik C T 10: 61,311,262 (GRCm39) probably benign Het
Dido1 T C 2: 180,331,128 (GRCm39) T107A possibly damaging Het
Efna5 C A 17: 62,958,023 (GRCm39) V78F probably damaging Het
Eml1 A G 12: 108,503,625 (GRCm39) I741V probably benign Het
Gfap A G 11: 102,787,780 (GRCm39) L55P probably damaging Het
Itga6 A G 2: 71,669,027 (GRCm39) I606V probably benign Het
Kif2c G T 4: 117,019,802 (GRCm39) D579E probably damaging Het
Lef1 T C 3: 130,988,442 (GRCm39) probably null Het
Lrrc1 T A 9: 77,342,404 (GRCm39) I357L probably benign Het
Lrrc37 A G 11: 103,504,109 (GRCm39) S2620P probably benign Het
Map3k20 T A 2: 72,202,239 (GRCm39) F157I probably damaging Het
Naga A T 15: 82,214,337 (GRCm39) N391K probably damaging Het
Ncaph T C 2: 126,968,025 (GRCm39) probably benign Het
Or11g2 C A 14: 50,856,185 (GRCm39) Q169K probably benign Het
Or5ae1 T G 7: 84,565,567 (GRCm39) Y193* probably null Het
Or6b9 T A 7: 106,555,598 (GRCm39) I182F possibly damaging Het
Or6c2b T G 10: 128,947,904 (GRCm39) Y130S probably damaging Het
Or8g55 T A 9: 39,784,906 (GRCm39) C112S possibly damaging Het
Pappa C A 4: 65,074,863 (GRCm39) D472E possibly damaging Het
Pdxk G A 10: 78,287,319 (GRCm39) L81F probably damaging Het
Pkhd1 G T 1: 20,380,934 (GRCm39) T2635K probably damaging Het
Psmb6 A T 11: 70,417,248 (GRCm39) H99L possibly damaging Het
Ptpn6 C T 6: 124,705,623 (GRCm39) G135E probably benign Het
Ptprz1 T A 6: 22,972,844 (GRCm39) D251E probably benign Het
Ralgapa1 A G 12: 55,689,234 (GRCm39) V1955A possibly damaging Het
Rsph4a T C 10: 33,781,148 (GRCm39) probably benign Het
Sh2d4b T C 14: 40,542,700 (GRCm39) T359A probably benign Het
Sh3bp5l A G 11: 58,237,087 (GRCm39) D348G probably damaging Het
Skint5 A T 4: 113,797,932 (GRCm39) M217K probably damaging Het
Slc30a6 T C 17: 74,711,054 (GRCm39) L49P probably damaging Het
Slc8a1 C T 17: 81,956,173 (GRCm39) M288I probably benign Het
Tmem127 C A 2: 127,097,922 (GRCm39) probably null Het
Tnfrsf17 T C 16: 11,131,811 (GRCm39) probably benign Het
Trak1 A T 9: 121,277,967 (GRCm39) N341I probably damaging Het
Ubr5 A G 15: 38,002,692 (GRCm39) I1453T probably benign Het
Wdr62 T C 7: 29,944,709 (GRCm39) probably null Het
Xrn2 T C 2: 146,880,216 (GRCm39) probably benign Het
Zscan10 C T 17: 23,827,119 (GRCm39) A144V 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
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
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
Posted On 2015-04-16