Incidental Mutation 'IGL02483:Or4c111'
ID 295312
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 # IGL02483
Quality Score
Status
Chromosome 2
Chromosomal Location 88843471-88844406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88843547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 287 (T287N)
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: T287N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097388
Gene: ENSMUSG00000075107
AA Change: T287N

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: T287N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217000
AA Change: T287N

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T G 8: 84,451,882 (GRCm39) I512L probably damaging Het
Ahnak C A 19: 8,980,672 (GRCm39) T652N probably benign Het
Akr1b8 G A 6: 34,340,729 (GRCm39) A209T probably damaging Het
Arnt2 T A 7: 83,900,605 (GRCm39) H659L probably damaging Het
Cad A G 5: 31,218,170 (GRCm39) probably null Het
Car6 T A 4: 150,280,586 (GRCm39) N86I probably damaging Het
Cfap57 T A 4: 118,438,302 (GRCm39) E863V probably damaging Het
Cyp2c39 T A 19: 39,525,231 (GRCm39) I178N probably damaging Het
Cysltr1 C A X: 105,621,728 (GRCm39) V253L probably damaging Het
Dgcr6 G A 16: 17,883,038 (GRCm39) A6T possibly damaging Het
Dis3l T C 9: 64,226,362 (GRCm39) probably null Het
Erc2 T A 14: 27,375,028 (GRCm39) L82Q probably damaging Het
Ercc6l T C X: 101,188,275 (GRCm39) T745A probably benign Het
Fmo4 A G 1: 162,635,990 (GRCm39) V54A possibly damaging Het
Foxd3 C T 4: 99,545,265 (GRCm39) S135F probably damaging Het
Fut7 T A 2: 25,313,888 (GRCm39) F21Y possibly damaging Het
Gata4 T C 14: 63,437,910 (GRCm39) T414A probably benign Het
Gm4950 A T 18: 51,998,406 (GRCm39) M183K probably damaging Het
Gmps A G 3: 63,921,773 (GRCm39) D592G probably damaging Het
Hpd A T 5: 123,320,641 (GRCm39) probably null Het
Imp4 T C 1: 34,483,356 (GRCm39) probably null Het
Itgbl1 A T 14: 124,065,155 (GRCm39) probably benign Het
Kcnt2 T C 1: 140,282,299 (GRCm39) probably benign Het
Kdr C T 5: 76,096,954 (GRCm39) probably null Het
Lca5 A T 9: 83,305,170 (GRCm39) I212N probably damaging Het
Lgr6 T C 1: 134,929,429 (GRCm39) probably benign Het
Lrrc28 T C 7: 67,267,731 (GRCm39) probably benign Het
Madd T G 2: 91,008,381 (GRCm39) T174P probably damaging Het
Map3k8 A G 18: 4,349,318 (GRCm39) probably benign Het
Mcm3 A G 1: 20,873,796 (GRCm39) S775P possibly damaging Het
Myh10 G A 11: 68,692,994 (GRCm39) A1393T probably benign Het
Nbas C T 12: 13,374,295 (GRCm39) A541V probably damaging Het
Nbeal2 G A 9: 110,455,063 (GRCm39) Q2578* probably null Het
Nlrp4f T A 13: 65,342,548 (GRCm39) T366S probably benign Het
Oma1 C T 4: 103,182,309 (GRCm39) R271* probably null Het
Or10ak12 C T 4: 118,666,696 (GRCm39) V122M probably benign Het
Or2g25 A G 17: 37,970,363 (GRCm39) L287P probably damaging Het
Plekhh2 T C 17: 84,903,688 (GRCm39) F1058S possibly damaging Het
Psen2 T A 1: 180,062,626 (GRCm39) M239L probably damaging Het
Psme3ip1 A G 8: 95,315,394 (GRCm39) probably benign Het
Rad50 A G 11: 53,570,876 (GRCm39) I794T probably benign Het
Rgs12 A G 5: 35,187,861 (GRCm39) E506G probably damaging Het
Rnpepl1 C T 1: 92,843,629 (GRCm39) P250S probably damaging Het
Sfr1 G A 19: 47,721,227 (GRCm39) probably benign Het
Skic8 T C 9: 54,635,545 (GRCm39) I19V probably damaging Het
Tmem184a T C 5: 139,798,832 (GRCm39) E39G probably benign Het
Trim66 C T 7: 109,076,837 (GRCm39) probably benign Het
Ugt2b35 A G 5: 87,149,004 (GRCm39) Y85C possibly damaging Het
Uts2r G T 11: 121,051,213 (GRCm39) G26C possibly damaging Het
Vmn2r88 A T 14: 51,651,611 (GRCm39) E308D 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
IGL02745:Or4c111 APN 2 88,844,232 (GRCm39) missense probably damaging 1.00
IGL02829:Or4c111 APN 2 88,844,021 (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 2015-04-16