Incidental Mutation 'IGL02829:Or4c111'
ID 361333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c111
Ensembl Gene ENSMUSG00000075107
Gene Name olfactory receptor family 4 subfamily C member 111
Synonyms Olfr1216, MOR233-9, GA_x6K02T2Q125-50494588-50493653
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02829
Quality Score
Status
Chromosome 2
Chromosomal Location 88843471-88844406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88844021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Tryptophan at position 129 (L129W)
Ref Sequence ENSEMBL: ENSMUSP00000149441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099800] [ENSMUST00000216000] [ENSMUST00000217000]
AlphaFold Q7TR05
Predicted Effect probably damaging
Transcript: ENSMUST00000099800
AA Change: L129W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097388
Gene: ENSMUSG00000075107
AA Change: L129W

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.8e-46 PFAM
Pfam:7tm_1 39 286 4.2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216000
AA Change: L129W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217000
AA Change: L129W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218738
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs9 A G 9: 22,490,780 (GRCm39) T303A probably damaging Het
Bet1 T A 6: 4,086,795 (GRCm39) M1L probably benign Het
Bicc1 A C 10: 70,794,710 (GRCm39) V149G probably damaging Het
Braf C A 6: 39,604,662 (GRCm39) L655F possibly damaging Het
Cd101 A G 3: 100,925,881 (GRCm39) probably benign Het
Cobll1 T C 2: 64,956,389 (GRCm39) K290E probably damaging Het
Col6a5 A T 9: 105,811,506 (GRCm39) I671K unknown Het
D130052B06Rik A C 11: 33,573,864 (GRCm39) T154P probably benign Het
Dglucy A C 12: 100,837,663 (GRCm39) H602P probably damaging Het
Fbxo34 A G 14: 47,767,146 (GRCm39) I220V probably benign Het
Gm42878 A G 5: 121,675,266 (GRCm39) V101A probably damaging Het
Gsdmc4 A G 15: 63,764,497 (GRCm39) L381P probably benign Het
Ifi208 C A 1: 173,510,406 (GRCm39) P187H probably damaging Het
Lrrc37a A T 11: 103,382,000 (GRCm39) C2473S unknown Het
Miip T A 4: 147,947,518 (GRCm39) N214I probably benign Het
Mrc2 A G 11: 105,227,533 (GRCm39) T589A possibly damaging Het
Mtss1 A G 15: 58,930,277 (GRCm39) probably benign Het
Mypn T C 10: 63,028,365 (GRCm39) R233G probably benign Het
Naip6 A T 13: 100,437,273 (GRCm39) C417S probably benign Het
Or13f5 C T 4: 52,826,027 (GRCm39) P210L probably damaging Het
Or8k37 T A 2: 86,469,599 (GRCm39) Y151F possibly damaging Het
Pcsk1 T C 13: 75,274,955 (GRCm39) Y515H probably damaging Het
Pla2g2e T A 4: 138,607,747 (GRCm39) Y42* probably null Het
Polh A T 17: 46,483,828 (GRCm39) L479Q possibly damaging Het
Prr36 T A 8: 4,265,278 (GRCm39) R157S possibly damaging Het
Reck T A 4: 43,891,014 (GRCm39) C51S probably damaging Het
Rev3l A G 10: 39,701,236 (GRCm39) D1911G probably damaging Het
Scgb1b27 A T 7: 33,721,173 (GRCm39) probably null Het
Sema4g G A 19: 44,981,188 (GRCm39) R47Q possibly damaging Het
Serinc1 A T 10: 57,400,061 (GRCm39) Y158* probably null Het
Slc15a2 C A 16: 36,577,555 (GRCm39) G435C possibly damaging Het
Tbc1d17 C A 7: 44,498,296 (GRCm39) probably benign Het
Tenm4 C T 7: 96,544,205 (GRCm39) Q2074* probably null Het
Tns3 A G 11: 8,469,564 (GRCm39) C244R probably damaging Het
Vmn2r2 A T 3: 64,026,172 (GRCm39) probably benign Het
Vmn2r44 T A 7: 8,380,879 (GRCm39) Q338L possibly damaging Het
Wdr70 C T 15: 8,006,463 (GRCm39) D363N possibly damaging Het
Yipf7 A T 5: 69,698,434 (GRCm39) S24R probably benign Het
Other mutations in Or4c111
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Or4c111 APN 2 88,844,268 (GRCm39) missense probably benign 0.22
IGL00895:Or4c111 APN 2 88,843,953 (GRCm39) missense probably benign 0.13
IGL01634:Or4c111 APN 2 88,843,788 (GRCm39) missense probably damaging 0.99
IGL01844:Or4c111 APN 2 88,843,814 (GRCm39) missense possibly damaging 0.95
IGL02036:Or4c111 APN 2 88,843,823 (GRCm39) missense probably benign 0.00
IGL02102:Or4c111 APN 2 88,843,470 (GRCm39) utr 3 prime probably benign
IGL02194:Or4c111 APN 2 88,844,231 (GRCm39) missense probably damaging 1.00
IGL02483:Or4c111 APN 2 88,843,547 (GRCm39) missense probably damaging 1.00
IGL02745:Or4c111 APN 2 88,844,232 (GRCm39) missense probably damaging 1.00
IGL03113:Or4c111 APN 2 88,844,379 (GRCm39) missense probably damaging 1.00
IGL03324:Or4c111 APN 2 88,843,903 (GRCm39) nonsense probably null
R0102:Or4c111 UTSW 2 88,844,015 (GRCm39) missense probably damaging 1.00
R0304:Or4c111 UTSW 2 88,843,632 (GRCm39) missense probably damaging 1.00
R1184:Or4c111 UTSW 2 88,844,057 (GRCm39) missense probably damaging 0.99
R1484:Or4c111 UTSW 2 88,843,713 (GRCm39) nonsense probably null
R1560:Or4c111 UTSW 2 88,843,550 (GRCm39) missense probably damaging 1.00
R1823:Or4c111 UTSW 2 88,843,722 (GRCm39) missense probably benign 0.02
R1911:Or4c111 UTSW 2 88,843,565 (GRCm39) missense probably damaging 1.00
R2245:Or4c111 UTSW 2 88,843,493 (GRCm39) missense probably benign
R2331:Or4c111 UTSW 2 88,844,265 (GRCm39) missense probably benign
R3859:Or4c111 UTSW 2 88,844,405 (GRCm39) start codon destroyed probably null 1.00
R4579:Or4c111 UTSW 2 88,843,488 (GRCm39) missense probably benign
R5022:Or4c111 UTSW 2 88,844,387 (GRCm39) missense probably damaging 0.96
R5353:Or4c111 UTSW 2 88,844,099 (GRCm39) missense probably benign 0.00
R5894:Or4c111 UTSW 2 88,844,399 (GRCm39) missense probably damaging 1.00
R6240:Or4c111 UTSW 2 88,843,970 (GRCm39) missense probably benign 0.03
R7101:Or4c111 UTSW 2 88,844,324 (GRCm39) missense possibly damaging 0.90
R7652:Or4c111 UTSW 2 88,843,893 (GRCm39) missense probably benign 0.01
R8243:Or4c111 UTSW 2 88,844,051 (GRCm39) missense probably benign 0.39
R8752:Or4c111 UTSW 2 88,844,231 (GRCm39) missense probably damaging 1.00
R9062:Or4c111 UTSW 2 88,843,548 (GRCm39) missense probably damaging 1.00
R9472:Or4c111 UTSW 2 88,843,517 (GRCm39) missense possibly damaging 0.81
R9628:Or4c111 UTSW 2 88,843,670 (GRCm39) missense probably damaging 0.98
Posted On 2015-12-18