Incidental Mutation 'IGL01830:Or4c12'
ID 154743
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 # IGL01830
Quality Score
Status
Chromosome 2
Chromosomal Location 89773528-89774457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89773775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 228 (L228S)
Ref Sequence ENSEMBL: ENSMUSP00000149652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090695] [ENSMUST00000214846]
AlphaFold Q8VEZ1
Predicted Effect probably benign
Transcript: ENSMUST00000090695
AA Change: L228S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000088194
Gene: ENSMUSG00000068806
AA Change: L228S

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 8.9e-45 PFAM
Pfam:7tm_1 39 285 5.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214846
AA Change: L228S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg C A 16: 22,717,779 (GRCm39) P252Q probably damaging Het
Anks4b T A 7: 119,773,219 (GRCm39) N26K probably damaging Het
Arrdc5 C T 17: 56,601,652 (GRCm39) V158I probably damaging Het
Catsper2 T C 2: 121,237,843 (GRCm39) D179G probably damaging Het
Cd44 T C 2: 102,672,603 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,888,925 (GRCm39) D231E possibly damaging Het
Cep57l1 C T 10: 41,604,649 (GRCm39) C160Y probably benign Het
Chek2 T A 5: 111,021,374 (GRCm39) L528Q probably benign Het
Ciita T C 16: 10,338,915 (GRCm39) L973P probably damaging Het
Dock2 A T 11: 34,582,744 (GRCm39) L637* probably null Het
Fsip2 A C 2: 82,815,273 (GRCm39) I3669L probably benign Het
Gapvd1 A G 2: 34,578,968 (GRCm39) V1218A probably benign Het
Gip T C 11: 95,919,550 (GRCm39) L91S possibly damaging Het
Gp2 T C 7: 119,050,765 (GRCm39) D322G probably damaging Het
Ift172 A G 5: 31,442,636 (GRCm39) V177A probably damaging Het
Kng2 T C 16: 22,806,801 (GRCm39) D466G probably damaging Het
Lpar5 G A 6: 125,058,785 (GRCm39) A169T probably benign Het
Med13 C T 11: 86,179,754 (GRCm39) probably benign Het
Meiob T A 17: 25,054,105 (GRCm39) C391S probably benign Het
Mgat5 A G 1: 127,339,869 (GRCm39) T417A probably damaging Het
Myo1b A T 1: 51,836,624 (GRCm39) L279* probably null Het
Myo1g T A 11: 6,464,522 (GRCm39) K513* probably null Het
Nxpe2 A T 9: 48,237,794 (GRCm39) S154T probably damaging Het
Ogn C T 13: 49,762,723 (GRCm39) Q22* probably null Het
Pacs2 A T 12: 113,020,574 (GRCm39) K316* probably null Het
Pelo T A 13: 115,225,131 (GRCm39) I365F probably damaging Het
Phf3 G A 1: 30,853,148 (GRCm39) Q1021* probably null Het
Pik3r4 A G 9: 105,522,154 (GRCm39) D240G probably damaging Het
Pknox1 T C 17: 31,814,284 (GRCm39) M203T probably benign Het
Pld1 T C 3: 28,102,153 (GRCm39) probably benign Het
Rabgef1 G T 5: 130,240,907 (GRCm39) C342F possibly damaging Het
Rbm19 A C 5: 120,262,760 (GRCm39) K307T possibly damaging Het
Sdcbp2 T A 2: 151,431,494 (GRCm39) I289N probably damaging Het
Slc5a12 G A 2: 110,428,151 (GRCm39) G69R probably damaging Het
Spag1 C A 15: 36,221,705 (GRCm39) S599R probably benign Het
Ubr4 A T 4: 139,199,811 (GRCm39) D4565V probably damaging Het
Usp34 G A 11: 23,386,020 (GRCm39) R2149H probably damaging Het
Vmn1r225 T C 17: 20,722,717 (GRCm39) S53P probably damaging Het
Xrcc1 T A 7: 24,272,767 (GRCm39) 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
IGL02160:Or4c12 APN 2 89,774,149 (GRCm39) missense probably damaging 1.00
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 2014-02-04