Incidental Mutation 'R6271:Or12k5'
ID 507313
Institutional Source Beutler Lab
Gene Symbol Or12k5
Ensembl Gene ENSMUSG00000075379
Gene Name olfactory receptor family 12 subfamily K member 5
Synonyms MOR159-4, GA_x6K02T2NLDC-33697309-33696317, Olfr358
MMRRC Submission 044379-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R6271 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 36894632-36895624 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36895554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 24 (Q24R)
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: Q24R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097724
Gene: ENSMUSG00000075379
AA Change: Q24R

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: Q24R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G T 4: 132,792,035 (GRCm39) C1092F possibly damaging Het
Aplf T C 6: 87,623,230 (GRCm39) E304G possibly damaging Het
Atp12a A G 14: 56,615,879 (GRCm39) D547G probably benign Het
B3gat2 T C 1: 23,854,342 (GRCm39) L212P probably damaging Het
Babam2 G T 5: 32,158,706 (GRCm39) A219S probably damaging Het
Ccdc18 A C 5: 108,322,753 (GRCm39) S618R possibly damaging Het
Ces2c G A 8: 105,578,748 (GRCm39) G342D probably damaging Het
Cfap57 A C 4: 118,452,956 (GRCm39) D582E probably benign Het
Cisd2 T C 3: 135,114,627 (GRCm39) N115D possibly damaging Het
Cyp17a1 A G 19: 46,661,159 (GRCm39) F42L probably benign Het
Fam234a T C 17: 26,437,211 (GRCm39) D156G probably benign Het
Fer1l6 T A 15: 58,513,767 (GRCm39) I1554K probably benign Het
Fv1 A G 4: 147,954,474 (GRCm39) T347A possibly damaging Het
Gm5134 T A 10: 75,831,643 (GRCm39) C361S probably benign Het
Grin3a T C 4: 49,792,516 (GRCm39) I406V probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifna13 A C 4: 88,562,082 (GRCm39) L181V possibly damaging Het
Irx4 A G 13: 73,414,713 (GRCm39) probably null Het
Kcna3 T A 3: 106,944,922 (GRCm39) M395K probably damaging Het
Kcnma1 A T 14: 23,559,957 (GRCm39) V347D probably damaging Het
Kng2 A T 16: 22,822,698 (GRCm39) V218E probably benign Het
Krt36 G A 11: 99,995,298 (GRCm39) Q167* probably null Het
Lama2 T C 10: 26,899,325 (GRCm39) D2457G possibly damaging Het
Ldah G A 12: 8,318,599 (GRCm39) probably null Het
Lhfpl3 G T 5: 22,951,242 (GRCm39) A18S probably benign Het
Lrrk1 A G 7: 65,956,851 (GRCm39) probably null Het
Ltv1 T C 10: 13,055,445 (GRCm39) Y352C probably damaging Het
Lyst G T 13: 13,833,339 (GRCm39) M1720I probably benign Het
Mkx A T 18: 6,937,059 (GRCm39) probably null Het
Myo18a A G 11: 77,711,635 (GRCm39) H626R probably damaging Het
Nop9 A C 14: 55,991,198 (GRCm39) Q618H probably damaging Het
Or4c12b T C 2: 89,646,906 (GRCm39) S73P probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Or8c9 T C 9: 38,241,578 (GRCm39) S232P probably benign Het
Otog C A 7: 45,901,464 (GRCm39) Q388K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Oxct2b T G 4: 123,011,508 (GRCm39) V476G probably damaging Het
Parp10 T C 15: 76,126,202 (GRCm39) T329A probably benign Het
Pcdhga5 T C 18: 37,829,735 (GRCm39) S728P probably benign Het
Piezo1 G T 8: 123,221,671 (GRCm39) H574Q probably damaging Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Preb C A 5: 31,115,395 (GRCm39) V255F probably damaging Het
Prmt9 A G 8: 78,304,092 (GRCm39) N725S probably damaging Het
Ric1 A T 19: 29,544,765 (GRCm39) probably null Het
Semp2l1 T A 1: 32,584,572 (GRCm39) D446V probably damaging Het
Serinc3 G C 2: 163,472,896 (GRCm39) L245V probably benign Het
Sgce T C 6: 4,730,015 (GRCm39) K70E possibly damaging Het
Simc1 T G 13: 54,687,537 (GRCm39) V102G probably damaging Het
Slc66a3 T C 12: 17,047,704 (GRCm39) D76G probably damaging Het
Smyd2 A G 1: 189,616,049 (GRCm39) Y362H probably damaging Het
Sptbn1 G T 11: 30,050,660 (GRCm39) H2310N probably benign Het
Syne1 T C 10: 5,184,652 (GRCm39) Y4077C probably damaging Het
Syne2 C A 12: 75,937,155 (GRCm39) A251E probably damaging Het
Taok1 A T 11: 77,464,609 (GRCm39) L159Q probably damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Timeless T C 10: 128,086,593 (GRCm39) L1043P probably damaging Het
Tmprss3 T C 17: 31,405,536 (GRCm39) E352G probably damaging Het
Trav6-4 A T 14: 53,692,039 (GRCm39) T46S probably benign Het
Ubiad1 A T 4: 148,521,083 (GRCm39) Y180* probably null Het
Usp47 A G 7: 111,686,263 (GRCm39) E627G probably damaging Het
Vmn2r124 A G 17: 18,283,145 (GRCm39) T280A probably benign 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
IGL02066:Or12k5 APN 2 36,895,321 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGTGTACCAGCATCTGAGGAAC -3'
(R):5'- CAATCACTTCTACCATCATCTTGGG -3'

Sequencing Primer
(F):5'- TACCAGCATCTGAGGAACAGTGATG -3'
(R):5'- CCATCATCTTGGGTAAGTTCAATTG -3'
Posted On 2018-03-15