Incidental Mutation 'R2245:Or4c111'
ID 240620
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 040245-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R2245 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 88843471-88844406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88843493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 305 (I305K)
Ref Sequence ENSEMBL: ENSMUSP00000149441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099800] [ENSMUST00000216000] [ENSMUST00000217000]
AlphaFold Q7TR05
Predicted Effect probably benign
Transcript: ENSMUST00000099800
AA Change: I305K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097388
Gene: ENSMUSG00000075107
AA Change: I305K

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.8e-46 PFAM
Pfam:7tm_1 39 286 4.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216000
AA Change: I305K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217000
AA Change: I305K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218738
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (31/31)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A G 7: 82,099,308 (GRCm39) Q154R probably damaging Het
Alpk2 A G 18: 65,438,234 (GRCm39) L1520P probably benign Het
Brd1 A G 15: 88,574,063 (GRCm39) probably null Het
Ccdc158 A G 5: 92,757,811 (GRCm39) probably benign Het
Cep350 C A 1: 155,754,766 (GRCm39) V1950F probably benign Het
Csnk1d A G 11: 120,863,229 (GRCm39) I237T probably damaging Het
Ddah2 T C 17: 35,280,561 (GRCm39) L234P probably damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Ephb1 A C 9: 101,873,973 (GRCm39) probably benign Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myadml2 A T 11: 120,538,656 (GRCm39) F60I probably damaging Het
Myo15a T C 11: 60,399,925 (GRCm39) V2893A probably damaging Het
Ntn1 A G 11: 68,276,120 (GRCm39) V276A probably benign Het
Or11h6 T A 14: 50,880,062 (GRCm39) I102N probably damaging Het
Or7a39 A G 10: 78,715,765 (GRCm39) Y253C probably damaging Het
Otof T C 5: 30,527,551 (GRCm39) Y1962C probably damaging Het
Pcf11 T C 7: 92,315,080 (GRCm39) probably benign Het
Polr2a A G 11: 69,626,009 (GRCm39) S1676P unknown Het
Prpf40b A G 15: 99,203,047 (GRCm39) probably benign Het
Ptprh T C 7: 4,576,345 (GRCm39) D305G probably benign Het
Rdh16f2 A G 10: 127,712,145 (GRCm39) K201E probably damaging Het
Slc19a3 T C 1: 82,991,691 (GRCm39) Y439C possibly damaging Het
Son G T 16: 91,444,848 (GRCm39) probably null Het
Specc1 T C 11: 62,022,713 (GRCm39) L710P probably damaging Het
Tex15 A G 8: 34,061,524 (GRCm39) D592G possibly damaging Het
Tmem237 A T 1: 59,147,863 (GRCm39) D209E probably damaging Het
Vmn2r106 T C 17: 20,488,423 (GRCm39) T659A probably benign Het
Vmn2r71 T A 7: 85,273,388 (GRCm39) I734N probably damaging Het
Wdr7 A T 18: 64,057,980 (GRCm39) I1270F possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TTGTGAGCATTTGTAGCCTCTC -3'
(R):5'- AGCCCACGTTACTGTTGTAG -3'

Sequencing Primer
(F):5'- GCGGCACTTCATTAAAATTTGAACTC -3'
(R):5'- AGCCCACGTTACTGTTGTAGTTTTG -3'
Posted On 2014-10-15