Incidental Mutation 'IGL02160:Or4c12'
ID 282431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c12
Ensembl Gene ENSMUSG00000068806
Gene Name olfactory receptor family 4 subfamily C member 12
Synonyms MOR232-9, Olfr1259, GA_x6K02T2Q125-51376062-51375133
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.460) question?
Stock # IGL02160
Quality Score
Status
Chromosome 2
Chromosomal Location 89773528-89774457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89774149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 103 (H103Q)
Ref Sequence ENSEMBL: ENSMUSP00000149652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090695] [ENSMUST00000214846]
AlphaFold Q8VEZ1
Predicted Effect probably damaging
Transcript: ENSMUST00000090695
AA Change: H103Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088194
Gene: ENSMUSG00000068806
AA Change: H103Q

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 8.9e-45 PFAM
Pfam:7tm_1 39 285 5.5e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214846
AA Change: H103Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A G 9: 53,503,287 (GRCm39) V184A probably benign Het
Adam19 G A 11: 46,030,522 (GRCm39) C750Y probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cabp2 T A 19: 4,134,868 (GRCm39) probably benign Het
Carmil3 T C 14: 55,731,015 (GRCm39) M94T possibly damaging Het
Ccdc107 A G 4: 43,495,736 (GRCm39) D213G probably damaging Het
Cdh23 T C 10: 60,433,544 (GRCm39) probably benign Het
Cfap251 A T 5: 123,394,081 (GRCm39) E323D unknown Het
Cfhr2 T A 1: 139,738,664 (GRCm39) D299V probably benign Het
Clcn7 T C 17: 25,368,004 (GRCm39) probably benign Het
Clspn G A 4: 126,475,303 (GRCm39) E1019K probably benign Het
Ctnna3 A G 10: 64,086,477 (GRCm39) T350A probably benign Het
Dmbt1 G A 7: 130,684,418 (GRCm39) G638E probably damaging Het
Ext2 A T 2: 93,643,929 (GRCm39) D117E probably benign Het
Fem1al A T 11: 29,773,593 (GRCm39) Y621* probably null Het
Ffar4 T A 19: 38,085,903 (GRCm39) V110D possibly damaging Het
Foxred2 G T 15: 77,839,850 (GRCm39) Q147K probably benign Het
Heatr9 T C 11: 83,409,651 (GRCm39) D107G probably benign Het
Hmgxb3 G A 18: 61,304,308 (GRCm39) A94V probably damaging Het
Htr5b A T 1: 121,455,774 (GRCm39) S49T possibly damaging Het
Il1rl1 A T 1: 40,500,997 (GRCm39) M458L probably benign Het
Il23r A T 6: 67,400,562 (GRCm39) N589K probably benign Het
Kbtbd11 G A 8: 15,078,801 (GRCm39) V467M probably damaging Het
Kidins220 T A 12: 25,054,110 (GRCm39) Y537N probably damaging Het
Kif27 T A 13: 58,473,812 (GRCm39) E728D probably damaging Het
Lum T C 10: 97,404,443 (GRCm39) S113P probably damaging Het
Mkln1 A G 6: 31,469,726 (GRCm39) probably benign Het
Mmp17 A G 5: 129,672,633 (GRCm39) D195G possibly damaging Het
Naa38 T A 11: 69,287,194 (GRCm39) probably benign Het
Naalad2 G A 9: 18,291,233 (GRCm39) A191V probably damaging Het
Naip6 A T 13: 100,435,933 (GRCm39) H863Q probably benign Het
Ncoa6 A G 2: 155,263,003 (GRCm39) V477A possibly damaging Het
Nipal3 G T 4: 135,201,728 (GRCm39) Y153* probably null Het
Or10s1 A T 9: 39,986,482 (GRCm39) N297I probably damaging Het
Or13d1 A G 4: 52,971,194 (GRCm39) D191G probably damaging Het
Or4g16 G A 2: 111,137,143 (GRCm39) V198I probably benign Het
Or9s23 T A 1: 92,501,079 (GRCm39) L62Q probably damaging Het
Pik3c2a G A 7: 115,987,299 (GRCm39) P541S probably damaging Het
Ppargc1b A T 18: 61,443,506 (GRCm39) D552E probably damaging Het
Ppfia3 C A 7: 45,009,475 (GRCm39) probably benign Het
Prcp G A 7: 92,566,969 (GRCm39) S227N probably benign Het
Ptprq T A 10: 107,489,426 (GRCm39) T900S probably benign Het
Ralgapa2 G A 2: 146,190,360 (GRCm39) probably benign Het
Rcsd1 A G 1: 165,485,148 (GRCm39) S102P probably damaging Het
Rfwd3 T A 8: 111,999,707 (GRCm39) N757I possibly damaging Het
Rnf217 A T 10: 31,381,767 (GRCm39) probably null Het
Scn2a A G 2: 65,560,460 (GRCm39) D1230G probably damaging Het
Sdc3 T C 4: 130,545,886 (GRCm39) probably benign Het
Slc27a4 G T 2: 29,695,974 (GRCm39) D170Y probably benign Het
Tcof1 A G 18: 60,981,815 (GRCm39) probably benign Het
Ticam1 T A 17: 56,577,560 (GRCm39) I512F possibly damaging Het
Ticrr T C 7: 79,343,767 (GRCm39) C1211R probably benign Het
Tlr2 A T 3: 83,744,678 (GRCm39) N468K possibly damaging Het
Tmod4 T C 3: 95,036,424 (GRCm39) probably benign Het
Tnxb T C 17: 34,933,719 (GRCm39) S2380P probably benign Het
Top6bl T C 19: 4,713,612 (GRCm39) D276G probably damaging Het
Tox A G 4: 6,711,537 (GRCm39) V309A probably damaging Het
Tpgs2 A G 18: 25,273,637 (GRCm39) F175L possibly damaging Het
Trim43b A G 9: 88,973,683 (GRCm39) S17P probably benign Het
Ttc21a G T 9: 119,785,989 (GRCm39) L662F probably damaging Het
Ubqln1 A T 13: 58,339,951 (GRCm39) N261K probably damaging Het
Umodl1 T C 17: 31,205,091 (GRCm39) V562A probably damaging Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Vars1 T A 17: 35,220,478 (GRCm39) I20N probably damaging Het
Vcan T C 13: 89,832,612 (GRCm39) N3092D probably damaging Het
Zc3h6 G T 2: 128,839,605 (GRCm39) E139D probably benign Het
Other mutations in Or4c12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Or4c12 APN 2 89,773,604 (GRCm39) missense probably damaging 0.96
IGL01446:Or4c12 APN 2 89,774,282 (GRCm39) missense probably damaging 0.99
IGL01830:Or4c12 APN 2 89,773,775 (GRCm39) missense probably benign 0.03
PIT4280001:Or4c12 UTSW 2 89,774,087 (GRCm39) missense probably damaging 1.00
R0366:Or4c12 UTSW 2 89,774,162 (GRCm39) missense possibly damaging 0.89
R0550:Or4c12 UTSW 2 89,773,733 (GRCm39) missense probably damaging 0.99
R0587:Or4c12 UTSW 2 89,773,736 (GRCm39) missense probably damaging 1.00
R1383:Or4c12 UTSW 2 89,773,895 (GRCm39) missense probably benign 0.12
R1400:Or4c12 UTSW 2 89,773,886 (GRCm39) missense possibly damaging 0.82
R1851:Or4c12 UTSW 2 89,774,158 (GRCm39) nonsense probably null
R1953:Or4c12 UTSW 2 89,774,267 (GRCm39) missense probably damaging 1.00
R2330:Or4c12 UTSW 2 89,774,297 (GRCm39) missense probably benign
R3897:Or4c12 UTSW 2 89,774,153 (GRCm39) missense probably benign 0.24
R3955:Or4c12 UTSW 2 89,774,172 (GRCm39) missense possibly damaging 0.90
R4687:Or4c12 UTSW 2 89,774,213 (GRCm39) missense probably damaging 0.98
R4976:Or4c12 UTSW 2 89,774,147 (GRCm39) missense possibly damaging 0.77
R5119:Or4c12 UTSW 2 89,774,147 (GRCm39) missense possibly damaging 0.77
R5291:Or4c12 UTSW 2 89,773,780 (GRCm39) nonsense probably null
R5415:Or4c12 UTSW 2 89,773,731 (GRCm39) missense probably benign 0.25
R5546:Or4c12 UTSW 2 89,773,929 (GRCm39) missense probably damaging 1.00
R5588:Or4c12 UTSW 2 89,774,136 (GRCm39) missense probably benign 0.00
R6633:Or4c12 UTSW 2 89,773,710 (GRCm39) missense probably benign
R6858:Or4c12 UTSW 2 89,774,087 (GRCm39) missense probably damaging 0.99
R7294:Or4c12 UTSW 2 89,774,068 (GRCm39) nonsense probably null
R8261:Or4c12 UTSW 2 89,773,716 (GRCm39) missense probably benign 0.00
R8319:Or4c12 UTSW 2 89,774,024 (GRCm39) missense possibly damaging 0.87
R8771:Or4c12 UTSW 2 89,773,565 (GRCm39) missense probably benign 0.01
R8817:Or4c12 UTSW 2 89,773,790 (GRCm39) missense probably damaging 1.00
R9208:Or4c12 UTSW 2 89,773,725 (GRCm39) missense possibly damaging 0.88
R9390:Or4c12 UTSW 2 89,773,569 (GRCm39) missense probably benign 0.10
R9402:Or4c12 UTSW 2 89,774,284 (GRCm39) nonsense probably null
R9731:Or4c12 UTSW 2 89,774,316 (GRCm39) missense possibly damaging 0.67
Z1088:Or4c12 UTSW 2 89,774,114 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16