Incidental Mutation 'R9062:Or4c111'
ID 689013
Institutional Source Beutler Lab
Gene Symbol Or4c111
Ensembl Gene ENSMUSG00000075107
Gene Name olfactory receptor family 4 subfamily C member 111
Synonyms Olfr1216, MOR233-9, GA_x6K02T2Q125-50494588-50493653
MMRRC Submission 068888-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R9062 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88843471-88844406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88843548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 287 (T287S)
Ref Sequence ENSEMBL: ENSMUSP00000150674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099800] [ENSMUST00000216000] [ENSMUST00000217000]
AlphaFold Q7TR05
Predicted Effect probably damaging
Transcript: ENSMUST00000099800
AA Change: T287S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097388
Gene: ENSMUSG00000075107
AA Change: T287S

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: T287S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217000
AA Change: T287S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 A G 2: 91,740,662 (GRCm39) E1047G possibly damaging Het
Ankfn1 T G 11: 89,325,583 (GRCm39) I530L probably benign Het
Apob A T 12: 8,058,046 (GRCm39) Y2176F possibly damaging Het
Atp5f1a C T 18: 77,866,459 (GRCm39) R171* probably null Het
Atxn10 T C 15: 85,275,918 (GRCm39) V325A probably benign Het
B3galt1 T C 2: 67,948,890 (GRCm39) Y202H Het
Calhm1 A T 19: 47,129,828 (GRCm39) D231E possibly damaging Het
Cel C A 2: 28,451,214 (GRCm39) V48F probably benign Het
Cep78 T A 19: 15,956,318 (GRCm39) Y207F probably benign Het
Cnst T C 1: 179,434,100 (GRCm39) probably null Het
Cpeb2 C A 5: 43,391,171 (GRCm39) N122K Het
Cyth1 T C 11: 118,023,142 (GRCm39) Q432R unknown Het
Eif2ak1 T C 5: 143,803,548 (GRCm39) probably benign Het
Eif6 T C 2: 155,665,928 (GRCm39) T76A probably benign Het
Etfrf1 A T 6: 145,161,153 (GRCm39) N41I probably damaging Het
Etl4 T G 2: 20,748,616 (GRCm39) L318R probably damaging Het
Fam151a G T 4: 106,605,306 (GRCm39) W556L probably benign Het
Gas2l1 A G 11: 5,011,497 (GRCm39) V444A probably benign Het
Gbp8 A G 5: 105,179,124 (GRCm39) I125T possibly damaging Het
Jrkl A G 9: 13,245,338 (GRCm39) F108L probably benign Het
Kif13a G T 13: 46,941,536 (GRCm39) D980E possibly damaging Het
Leng9 C T 7: 4,151,666 (GRCm39) A337T probably damaging Het
Lipo3 A C 19: 33,757,714 (GRCm39) C252G probably damaging Het
Lrp4 C A 2: 91,303,925 (GRCm39) D113E possibly damaging Het
Mapk8ip1 T C 2: 92,217,527 (GRCm39) Y265C probably damaging Het
Mios A T 6: 8,233,221 (GRCm39) I790F probably benign Het
Mlf2 G A 6: 124,911,334 (GRCm39) silent Het
Mycbp2 T A 14: 103,479,796 (GRCm39) Y1226F probably benign Het
Ncoa6 T A 2: 155,263,348 (GRCm39) Q362L probably benign Het
Notch3 T C 17: 32,341,692 (GRCm39) D2020G possibly damaging Het
Or4a73 T C 2: 89,420,923 (GRCm39) M179V probably benign Het
Or52z1 T A 7: 103,437,155 (GRCm39) I110L probably benign Het
Or8d1b A T 9: 38,887,421 (GRCm39) I150F probably benign Het
Otop2 C A 11: 115,214,465 (GRCm39) A74E probably benign Het
Pgm1 T C 4: 99,843,954 (GRCm39) I579T probably damaging Het
Preb A G 5: 31,116,196 (GRCm39) V137A probably benign Het
Psap G T 10: 60,131,738 (GRCm39) V244L possibly damaging Het
Setbp1 A G 18: 78,900,266 (GRCm39) S1134P probably benign Het
Skp2 G T 15: 9,113,821 (GRCm39) P399Q probably damaging Het
Slc47a1 T G 11: 61,253,924 (GRCm39) I222L probably benign Het
Spata31h1 A G 10: 82,126,945 (GRCm39) W2022R probably benign Het
Spef2 A G 15: 9,601,717 (GRCm39) L1515S unknown Het
Sri T C 5: 8,106,625 (GRCm39) Y13H unknown Het
Tcf25 T C 8: 124,116,448 (GRCm39) F248L Het
Tdrd12 T C 7: 35,179,694 (GRCm39) T885A unknown Het
Ttn T C 2: 76,600,944 (GRCm39) T18813A probably damaging Het
Usp42 A G 5: 143,703,740 (GRCm39) V441A possibly damaging Het
Vwa1 A T 4: 155,854,820 (GRCm39) S405T probably benign Het
Zbbx A T 3: 74,989,124 (GRCm39) H326Q possibly damaging Het
Zfp64 T C 2: 168,767,747 (GRCm39) T622A probably benign Het
Zfp677 T G 17: 21,612,815 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- CTCTTATCCAATAGAGCAAAGTGAG -3'
(R):5'- AGAGCCCACAGTTCTGAAGG -3'

Sequencing Primer
(F):5'- CCAATAGAGCAAAGTGAGCTTTC -3'
(R):5'- TCTGAAGGACGAAGGAAAGCTCTTTC -3'
Posted On 2021-11-19