Incidental Mutation 'IGL02066:Or12k5'
ID 185630
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or12k5
Ensembl Gene ENSMUSG00000075379
Gene Name olfactory receptor family 12 subfamily K member 5
Synonyms MOR159-4, GA_x6K02T2NLDC-33697309-33696317, Olfr358
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL02066
Quality Score
Status
Chromosome 2
Chromosomal Location 36894632-36895624 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36895321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 102 (F102I)
Ref Sequence ENSEMBL: ENSMUSP00000150781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100146] [ENSMUST00000213218] [ENSMUST00000216437]
AlphaFold Q7TRY5
Predicted Effect probably damaging
Transcript: ENSMUST00000100146
AA Change: F102I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097724
Gene: ENSMUSG00000075379
AA Change: F102I

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 6.4e-49 PFAM
Pfam:7TM_GPCR_Srsx 35 214 4.7e-7 PFAM
Pfam:7tm_1 41 289 2.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213218
Predicted Effect probably damaging
Transcript: ENSMUST00000216437
AA Change: F102I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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
A2m T A 6: 121,626,854 (GRCm39) C569S probably damaging Het
Adck5 T C 15: 76,479,406 (GRCm39) V487A probably damaging Het
Agfg1 A G 1: 82,871,279 (GRCm39) T483A probably damaging Het
Akr1c12 T C 13: 4,326,236 (GRCm39) T82A probably damaging Het
Ano2 T A 6: 125,667,702 (GRCm39) L6Q probably benign Het
Anp32a G A 9: 62,284,615 (GRCm39) probably benign Het
Bltp2 G A 11: 78,164,058 (GRCm39) R1133H probably damaging Het
Cep250 C A 2: 155,818,441 (GRCm39) A871D probably damaging Het
Chl1 T C 6: 103,675,185 (GRCm39) V624A probably benign Het
Clasp1 G A 1: 118,492,990 (GRCm39) probably null Het
Clca3a2 T G 3: 144,519,216 (GRCm39) D320A probably benign Het
Cnot9 A G 1: 74,566,212 (GRCm39) Q201R possibly damaging Het
Cox4i2 C T 2: 152,602,602 (GRCm39) R99C probably damaging Het
Csmd1 A T 8: 15,976,594 (GRCm39) F2875I probably damaging Het
Dpagt1 A G 9: 44,243,203 (GRCm39) Y246C probably damaging Het
Dsc1 A G 18: 20,241,860 (GRCm39) probably benign Het
Eef1d G A 15: 75,768,704 (GRCm39) T464I probably benign Het
Efna2 C T 10: 80,024,500 (GRCm39) probably benign Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Etaa1 C A 11: 17,896,687 (GRCm39) V477L probably benign Het
Fam83d C T 2: 158,627,793 (GRCm39) T494M probably benign Het
Fbxo24 C T 5: 137,611,132 (GRCm39) V553M probably damaging Het
Gal3st2 A G 1: 93,801,379 (GRCm39) T12A probably damaging Het
Gba2 G A 4: 43,570,175 (GRCm39) T373I probably benign Het
Kitl T A 10: 99,912,744 (GRCm39) C154S probably damaging Het
Lrp1b A T 2: 41,001,091 (GRCm39) C2044* probably null Het
Lrp6 G T 6: 134,427,900 (GRCm39) S1564* probably null Het
Manea A T 4: 26,340,965 (GRCm39) probably benign Het
Myt1 T C 2: 181,438,982 (GRCm39) L168P probably damaging Het
Notch1 T C 2: 26,350,408 (GRCm39) E2244G possibly damaging Het
Nsd3 T G 8: 26,203,515 (GRCm39) V1343G probably damaging Het
Nup155 T C 15: 8,187,250 (GRCm39) probably benign Het
Obox6 T C 7: 15,568,628 (GRCm39) I83V probably benign Het
Or13a24 A T 7: 140,154,413 (GRCm39) T116S possibly damaging Het
Pdgfra T C 5: 75,331,241 (GRCm39) V282A possibly damaging Het
Pkd1l2 A G 8: 117,736,303 (GRCm39) probably benign Het
Pmfbp1 A T 8: 110,268,365 (GRCm39) I971F possibly damaging Het
Ppp6c T C 2: 39,089,683 (GRCm39) T199A probably benign Het
Ptpra A G 2: 30,333,308 (GRCm39) T3A possibly damaging Het
Rb1 A T 14: 73,435,974 (GRCm39) M897K probably benign Het
Rptn A C 3: 93,304,436 (GRCm39) S590R probably benign Het
Rreb1 A G 13: 38,115,482 (GRCm39) D947G probably benign Het
Samd9l T C 6: 3,376,575 (GRCm39) T229A probably damaging Het
Slc5a9 A T 4: 111,744,719 (GRCm39) M423K probably damaging Het
Slc6a12 T A 6: 121,329,015 (GRCm39) I111N probably damaging Het
Slc6a15 T A 10: 103,252,519 (GRCm39) L561I probably damaging Het
Spag5 A G 11: 78,195,358 (GRCm39) N222D probably benign Het
Spp2 G A 1: 88,344,965 (GRCm39) M54I probably benign Het
Sptbn4 T C 7: 27,063,940 (GRCm39) E847G possibly damaging Het
Timd2 T A 11: 46,569,050 (GRCm39) N203Y probably damaging Het
Togaram1 G T 12: 65,030,195 (GRCm39) D1000Y probably damaging Het
Usp47 C T 7: 111,663,604 (GRCm39) R258C probably damaging Het
Uts2r A C 11: 121,051,523 (GRCm39) D129A probably damaging Het
Vmn2r102 G A 17: 19,914,191 (GRCm39) M585I probably benign Het
Vmn2r77 A T 7: 86,452,836 (GRCm39) R518* probably null Het
Wdfy4 C T 14: 32,871,523 (GRCm39) R296K probably benign Het
Xirp2 A T 2: 67,356,415 (GRCm39) K3725N probably benign Het
Xntrpc T C 7: 101,727,036 (GRCm39) S142P probably benign Het
Zfat T C 15: 68,052,678 (GRCm39) H372R probably damaging Het
Other mutations in Or12k5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Or12k5 APN 2 36,894,942 (GRCm39) missense probably benign 0.00
IGL01460:Or12k5 APN 2 36,894,648 (GRCm39) missense probably benign 0.06
R0081:Or12k5 UTSW 2 36,895,462 (GRCm39) missense probably damaging 1.00
R0129:Or12k5 UTSW 2 36,895,057 (GRCm39) nonsense probably null
R1441:Or12k5 UTSW 2 36,895,131 (GRCm39) missense possibly damaging 0.82
R1543:Or12k5 UTSW 2 36,895,139 (GRCm39) missense probably damaging 1.00
R1628:Or12k5 UTSW 2 36,894,738 (GRCm39) missense probably damaging 1.00
R1966:Or12k5 UTSW 2 36,894,960 (GRCm39) missense possibly damaging 0.49
R2338:Or12k5 UTSW 2 36,895,159 (GRCm39) missense probably damaging 1.00
R4826:Or12k5 UTSW 2 36,895,345 (GRCm39) missense probably damaging 0.99
R6271:Or12k5 UTSW 2 36,895,554 (GRCm39) missense probably damaging 1.00
R7359:Or12k5 UTSW 2 36,895,449 (GRCm39) missense probably damaging 1.00
R7487:Or12k5 UTSW 2 36,894,786 (GRCm39) missense probably damaging 0.98
R7957:Or12k5 UTSW 2 36,894,972 (GRCm39) missense probably benign
R8413:Or12k5 UTSW 2 36,895,402 (GRCm39) missense probably damaging 1.00
R8417:Or12k5 UTSW 2 36,894,658 (GRCm39) missense probably benign
R8427:Or12k5 UTSW 2 36,894,794 (GRCm39) nonsense probably null
R8477:Or12k5 UTSW 2 36,895,060 (GRCm39) missense probably benign 0.40
R8871:Or12k5 UTSW 2 36,895,060 (GRCm39) missense probably benign 0.40
RF007:Or12k5 UTSW 2 36,895,186 (GRCm39) missense probably damaging 0.99
X0028:Or12k5 UTSW 2 36,895,611 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07