Incidental Mutation 'IGL03303:Or4c127'
ID 416286
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c127
Ensembl Gene ENSMUSG00000051313
Gene Name olfactory receptor family 4 subfamily C member 127
Synonyms GA_x6K02T2Q125-51434523-51435437, Olfr1262, MOR234-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL03303
Quality Score
Status
Chromosome 2
Chromosomal Location 89832752-89833666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89832810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 20 (K20I)
Ref Sequence ENSEMBL: ENSMUSP00000121666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061701] [ENSMUST00000111508] [ENSMUST00000131072] [ENSMUST00000213868]
AlphaFold Q8VGN2
Predicted Effect possibly damaging
Transcript: ENSMUST00000061701
AA Change: K20I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052387
Gene: ENSMUSG00000051313
AA Change: K20I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 30 297 1.2e-5 PFAM
Pfam:7tm_1 36 282 9.9e-24 PFAM
Pfam:7tm_4 134 275 1.3e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111508
AA Change: K20I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107133
Gene: ENSMUSG00000051313
AA Change: K20I

DomainStartEndE-ValueType
Pfam:7tm_4 25 300 6.1e-43 PFAM
Pfam:7TM_GPCR_Srsx 30 297 1.2e-5 PFAM
Pfam:7tm_1 36 282 7.1e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131072
AA Change: K20I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121666
Gene: ENSMUSG00000051313
AA Change: K20I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 30 171 1.7e-8 PFAM
Pfam:7tm_1 36 238 3.2e-22 PFAM
Pfam:7tm_4 134 240 5e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213868
AA Change: K20I

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,644,122 (GRCm39) V940E probably damaging Het
Agap1 T A 1: 89,592,874 (GRCm39) V307D probably damaging Het
Amd1 A G 10: 40,166,121 (GRCm39) V286A possibly damaging Het
Bltp1 A G 3: 36,924,226 (GRCm39) E17G possibly damaging Het
Chrne T C 11: 70,505,926 (GRCm39) K453R possibly damaging Het
Ckm T A 7: 19,148,263 (GRCm39) probably benign Het
Ckmt1 A G 2: 121,190,486 (GRCm39) T138A probably benign Het
Cldn4 A G 5: 134,975,103 (GRCm39) V166A possibly damaging Het
Dclre1a T C 19: 56,535,198 (GRCm39) T129A possibly damaging Het
Dlgap2 T A 8: 14,777,812 (GRCm39) D352E probably damaging Het
Dnmt1 A G 9: 20,838,006 (GRCm39) I236T probably benign Het
Enam G T 5: 88,652,450 (GRCm39) V1320L probably benign Het
Ezh1 A C 11: 101,086,497 (GRCm39) probably null Het
F13b A T 1: 139,440,774 (GRCm39) D410V possibly damaging Het
Fcrl6 A T 1: 172,425,255 (GRCm39) Y259N probably damaging Het
Fpr-rs7 A T 17: 20,334,001 (GRCm39) F163Y possibly damaging Het
Gpihbp1 C T 15: 75,469,827 (GRCm39) Q181* probably null Het
Htr2b T C 1: 86,027,061 (GRCm39) probably benign Het
Igkv1-35 A G 6: 69,988,635 (GRCm39) I8T probably benign Het
Kcnq2 T C 2: 180,724,182 (GRCm39) T584A probably benign Het
Khdrbs3 A G 15: 68,896,672 (GRCm39) T111A probably benign Het
Krtap29-1 A T 11: 99,869,669 (GRCm39) C71S probably benign Het
Lrrc4c A T 2: 97,459,937 (GRCm39) I188F probably damaging Het
Med1 G T 11: 98,049,178 (GRCm39) N539K probably damaging Het
Mga T A 2: 119,733,933 (GRCm39) D260E probably damaging Het
Mnd1 A G 3: 84,012,244 (GRCm39) I155T probably benign Het
Msrb3 T C 10: 120,620,046 (GRCm39) D91G probably benign Het
Mycbp2 A T 14: 103,485,194 (GRCm39) D1102E probably damaging Het
Nfx1 T A 4: 41,004,323 (GRCm39) probably benign Het
Nrsn2 T C 2: 152,216,131 (GRCm39) D24G possibly damaging Het
Osmr T A 15: 6,872,289 (GRCm39) R268S probably benign Het
Pelo C A 13: 115,225,197 (GRCm39) V343L probably damaging Het
Rp1 T A 1: 4,415,040 (GRCm39) N2024I probably damaging Het
Rps6ka2 C T 17: 7,495,411 (GRCm39) Q33* probably null Het
Slfn2 G A 11: 82,960,293 (GRCm39) V91I possibly damaging Het
Socs6 G T 18: 88,887,868 (GRCm39) A349E probably damaging Het
Syt2 A G 1: 134,669,649 (GRCm39) N97D probably benign Het
Tas2r123 T A 6: 132,824,401 (GRCm39) H99Q probably damaging Het
Tmc3 A G 7: 83,239,933 (GRCm39) probably benign Het
Ube2s A T 7: 4,813,476 (GRCm39) V35D probably damaging Het
Usp32 A T 11: 84,913,658 (GRCm39) V891D probably damaging Het
Vmn1r169 A T 7: 23,277,434 (GRCm39) E275D probably benign Het
Vps13c A G 9: 67,841,786 (GRCm39) H1936R probably benign Het
Wrap73 C A 4: 154,231,000 (GRCm39) A92E probably damaging Het
Zfhx4 C T 3: 5,468,410 (GRCm39) T2856M probably damaging Het
Zmym1 A T 4: 126,942,927 (GRCm39) I487N probably damaging Het
Other mutations in Or4c127
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Or4c127 APN 2 89,833,365 (GRCm39) missense possibly damaging 0.65
R1216:Or4c127 UTSW 2 89,832,822 (GRCm39) missense probably benign 0.23
R1256:Or4c127 UTSW 2 89,832,911 (GRCm39) missense possibly damaging 0.61
R1860:Or4c127 UTSW 2 89,833,490 (GRCm39) missense probably benign 0.26
R1864:Or4c127 UTSW 2 89,832,825 (GRCm39) missense probably benign 0.02
R1918:Or4c127 UTSW 2 89,832,918 (GRCm39) missense probably benign 0.12
R2192:Or4c127 UTSW 2 89,832,774 (GRCm39) missense probably damaging 0.99
R3024:Or4c127 UTSW 2 89,833,584 (GRCm39) missense probably damaging 1.00
R4155:Or4c127 UTSW 2 89,833,004 (GRCm39) missense probably benign 0.35
R4956:Or4c127 UTSW 2 89,833,187 (GRCm39) missense probably benign 0.33
R5298:Or4c127 UTSW 2 89,832,804 (GRCm39) missense possibly damaging 0.92
R5804:Or4c127 UTSW 2 89,833,332 (GRCm39) missense possibly damaging 0.91
R6766:Or4c127 UTSW 2 89,832,876 (GRCm39) missense probably benign 0.06
R7674:Or4c127 UTSW 2 89,833,389 (GRCm39) missense probably damaging 0.99
R8535:Or4c127 UTSW 2 89,833,511 (GRCm39) missense probably benign 0.19
Z1176:Or4c127 UTSW 2 89,833,392 (GRCm39) missense probably damaging 0.97
Posted On 2016-08-02