Incidental Mutation 'IGL02110:Or1f12'
ID 280100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1f12
Ensembl Gene ENSMUSG00000048996
Gene Name olfactory receptor family 1 subfamily F member 12
Synonyms MOR130-2, GA_x6K02T2QHY8-11707053-11707994, Olfr1366
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL02110
Quality Score
Status
Chromosome 13
Chromosomal Location 21721144-21722197 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21722112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 21 (Q21L)
Ref Sequence ENSEMBL: ENSMUSP00000151506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168629] [ENSMUST00000175637] [ENSMUST00000205976] [ENSMUST00000218154]
AlphaFold A0A1W2P740
Predicted Effect probably benign
Transcript: ENSMUST00000168629
AA Change: Q6L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132776
Gene: ENSMUSG00000048996
AA Change: Q6L

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
Pfam:7tm_4 46 323 1.1e-59 PFAM
Pfam:7TM_GPCR_Srsx 50 320 4e-7 PFAM
Pfam:7tm_1 56 305 1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175637
AA Change: Q6L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135446
Gene: ENSMUSG00000048996
AA Change: Q6L

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:7TM_GPCR_Srsx 35 231 3e-7 PFAM
Pfam:7tm_1 41 237 8.7e-33 PFAM
Pfam:7tm_4 139 240 2.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205976
AA Change: Q6L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218154
AA Change: Q21L

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7e A G 15: 77,598,548 (GRCm39) probably null Het
Arhgef40 C T 14: 52,226,862 (GRCm39) T302M probably damaging Het
Bap1 T C 14: 30,979,371 (GRCm39) L458P probably damaging Het
Bbs12 A G 3: 37,373,336 (GRCm39) E43G probably benign Het
Bod1l C T 5: 41,973,796 (GRCm39) C2506Y probably damaging Het
Ccdc170 A G 10: 4,491,885 (GRCm39) probably null Het
Chpf2 A G 5: 24,796,710 (GRCm39) E552G probably damaging Het
Comp T A 8: 70,826,289 (GRCm39) I23N probably benign Het
Cxcl2 T C 5: 91,052,211 (GRCm39) probably benign Het
Dctn5 T C 7: 121,734,374 (GRCm39) F73L probably damaging Het
Ddx5 T C 11: 106,675,835 (GRCm39) E285G probably damaging Het
Ddx60 T G 8: 62,470,281 (GRCm39) probably null Het
Dhcr24 T A 4: 106,430,998 (GRCm39) I229N probably damaging Het
Dnah7a G A 1: 53,450,739 (GRCm39) T3897I possibly damaging Het
Dvl2 T A 11: 69,898,842 (GRCm39) probably benign Het
Dytn A T 1: 63,686,632 (GRCm39) V346E possibly damaging Het
Eepd1 T C 9: 25,514,698 (GRCm39) probably benign Het
Fbln2 G T 6: 91,211,084 (GRCm39) A343S probably benign Het
Flywch1 T C 17: 23,982,066 (GRCm39) probably null Het
Gckr A T 5: 31,456,082 (GRCm39) T81S possibly damaging Het
Gm6139 T A 5: 129,700,656 (GRCm39) noncoding transcript Het
Gpcpd1 A T 2: 132,372,530 (GRCm39) C657* probably null Het
Greb1l A G 18: 10,515,271 (GRCm39) I89V probably damaging Het
Hdac4 G A 1: 91,912,127 (GRCm39) P421S probably benign Het
Iqca1l A G 5: 24,753,082 (GRCm39) probably benign Het
Klhl1 A G 14: 96,374,039 (GRCm39) L669P probably benign Het
Mios A G 6: 8,215,565 (GRCm39) R254G probably damaging Het
Mmp19 A G 10: 128,630,727 (GRCm39) N116D probably damaging Het
Muc5b T A 7: 141,401,453 (GRCm39) C566* probably null Het
Nadsyn1 T C 7: 143,367,164 (GRCm39) Y141C probably damaging Het
Nlrp4d T C 7: 10,116,491 (GRCm39) noncoding transcript Het
Nob1 A T 8: 108,142,804 (GRCm39) *160R probably null Het
Or10ac1 A G 6: 42,515,113 (GRCm39) V281A possibly damaging Het
Or1j17 A G 2: 36,578,697 (GRCm39) T228A probably benign Het
Or4k45 C T 2: 111,395,252 (GRCm39) C179Y probably damaging Het
Or51s1 C T 7: 102,558,402 (GRCm39) V215I probably benign Het
Or56b1b C A 7: 108,164,286 (GRCm39) A239S probably damaging Het
Phc1 T C 6: 122,298,994 (GRCm39) D658G possibly damaging Het
Pitx2 T G 3: 129,012,466 (GRCm39) S299A probably damaging Het
Plekha7 C A 7: 115,753,863 (GRCm39) probably null Het
Ptgfr A G 3: 151,541,097 (GRCm39) V137A probably damaging Het
Ptprb T C 10: 116,167,108 (GRCm39) probably benign Het
Rasl2-9 C T 7: 5,128,346 (GRCm39) A195T probably benign Het
Ripor3 T A 2: 167,836,626 (GRCm39) Q121L possibly damaging Het
Sgsh G T 11: 119,243,632 (GRCm39) A30E probably damaging Het
Sis G T 3: 72,836,032 (GRCm39) C852* probably null Het
Slc17a9 A G 2: 180,374,369 (GRCm39) probably benign Het
Slco6b1 A T 1: 96,915,607 (GRCm39) noncoding transcript Het
Smarca2 A G 19: 26,650,140 (GRCm39) Y704C possibly damaging Het
Spata6 A T 4: 111,642,003 (GRCm39) H291L possibly damaging Het
Stra8 T C 6: 34,907,289 (GRCm39) probably benign Het
Taldo1 T C 7: 140,982,647 (GRCm39) probably benign Het
Tmco6 T C 18: 36,868,219 (GRCm39) probably benign Het
Tmpo A C 10: 90,998,727 (GRCm39) S353R probably damaging Het
Tpr A T 1: 150,311,493 (GRCm39) Q1757L probably damaging Het
Ubn1 T C 16: 4,899,754 (GRCm39) probably benign Het
Vmn2r83 T C 10: 79,327,534 (GRCm39) V714A possibly damaging Het
Zfp407 G T 18: 84,577,165 (GRCm39) A1316D probably benign Het
Zzef1 T A 11: 72,803,938 (GRCm39) I2560N probably damaging Het
Other mutations in Or1f12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02827:Or1f12 APN 13 21,721,528 (GRCm39) missense probably benign 0.43
R0528:Or1f12 UTSW 13 21,721,416 (GRCm39) missense possibly damaging 0.95
R1650:Or1f12 UTSW 13 21,721,249 (GRCm39) missense probably damaging 1.00
R2168:Or1f12 UTSW 13 21,721,422 (GRCm39) missense probably damaging 1.00
R4936:Or1f12 UTSW 13 21,721,357 (GRCm39) missense probably benign 0.00
R4963:Or1f12 UTSW 13 21,722,152 (GRCm39) missense probably damaging 0.97
R8117:Or1f12 UTSW 13 21,722,122 (GRCm39) missense probably benign
R9272:Or1f12 UTSW 13 21,721,864 (GRCm39) missense possibly damaging 0.69
X0028:Or1f12 UTSW 13 21,721,944 (GRCm39) missense probably damaging 1.00
Z1177:Or1f12 UTSW 13 21,721,419 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16