Incidental Mutation 'R5353:Or4c111'
ID 423888
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 042932-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5353 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 88843471-88844406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88844099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 103 (V103A)
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: V103A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000097388
Gene: ENSMUSG00000075107
AA Change: V103A

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: V103A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000217000
AA Change: V103A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218738
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 100% (59/59)
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
Ablim3 A G 18: 61,934,470 (GRCm39) S649P probably damaging Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Adamts1 T A 16: 85,599,496 (GRCm39) M35L probably benign Het
Adgrg3 A T 8: 95,762,556 (GRCm39) H202L probably damaging Het
Anln G T 9: 22,271,813 (GRCm39) R681S probably damaging Het
Aprt A T 8: 123,302,147 (GRCm39) M1K probably null Het
Arid3b G T 9: 57,702,320 (GRCm39) probably null Het
Cbl A G 9: 44,084,620 (GRCm39) F172L probably damaging Het
Cd109 G T 9: 78,617,521 (GRCm39) V1340L probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Chrm3 A G 13: 9,928,593 (GRCm39) Y148H probably damaging Het
Cog7 A C 7: 121,540,470 (GRCm39) probably null Het
Cpsf1 A T 15: 76,486,771 (GRCm39) I255N probably damaging Het
Crebzf G A 7: 90,092,622 (GRCm39) G134R probably damaging Het
Crybg1 T C 10: 43,849,661 (GRCm39) S1705G probably damaging Het
Dock6 A T 9: 21,726,082 (GRCm39) H1409Q probably benign Het
Fank1 A G 7: 133,478,632 (GRCm39) D232G probably damaging Het
Fat1 G T 8: 45,489,168 (GRCm39) V3480L probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fmn2 G T 1: 174,330,572 (GRCm39) G321W unknown Het
Greb1 A T 12: 16,738,567 (GRCm39) Y1465* probably null Het
Hdac9 G A 12: 34,443,392 (GRCm39) Q330* probably null Het
Kcnt2 C T 1: 140,354,639 (GRCm39) T298I probably damaging Het
Knl1 A G 2: 118,901,464 (GRCm39) D1055G probably benign Het
Mroh2b T C 15: 4,946,660 (GRCm39) S487P probably damaging Het
Naa38 G A 11: 69,287,408 (GRCm39) V110I probably benign Het
Nkd2 T C 13: 73,969,557 (GRCm39) H303R probably damaging Het
Nr1d2 A G 14: 18,222,125 (GRCm38) C49R probably benign Het
Or52b2 A G 7: 104,986,324 (GRCm39) Y200H probably damaging Het
Ovch2 T A 7: 107,393,631 (GRCm39) E165V probably damaging Het
Phyh A T 2: 4,947,012 (GRCm39) probably benign Het
Pik3r4 G A 9: 105,545,137 (GRCm39) probably null Het
Ppip5k1 A C 2: 121,142,201 (GRCm39) V1416G probably benign Het
Ppm1b T C 17: 85,301,537 (GRCm39) V139A probably benign Het
Ppp1r12a T G 10: 108,097,077 (GRCm39) probably null Het
Pramel20 A G 4: 143,297,807 (GRCm39) T76A probably benign Het
Psmc5 G T 11: 106,152,327 (GRCm39) A115S probably damaging Het
Ptpn5 T A 7: 46,731,642 (GRCm39) E409V probably benign Het
Ptprg T A 14: 11,554,235 (GRCm38) probably benign Het
Qrich1 G T 9: 108,422,164 (GRCm39) V593F probably damaging Het
Rbbp9 T C 2: 144,385,741 (GRCm39) I175V probably benign Het
Selenot T C 3: 58,493,387 (GRCm39) F88S possibly damaging Het
Sp110 C T 1: 85,516,841 (GRCm39) E219K possibly damaging Het
Spred2 A G 11: 19,968,155 (GRCm39) D208G possibly damaging Het
Surf1 T C 2: 26,804,204 (GRCm39) T197A probably benign Het
Taco1 G A 11: 105,963,539 (GRCm39) probably null Het
Tas2r109 A G 6: 132,957,594 (GRCm39) V112A possibly damaging Het
Tpr C T 1: 150,321,675 (GRCm39) R3C probably damaging Het
Uggt2 A G 14: 119,319,182 (GRCm39) I280T probably benign Het
Yipf2 A G 9: 21,503,228 (GRCm39) Y80H possibly damaging Het
Zscan12 T C 13: 21,548,178 (GRCm39) V120A 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
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
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'- ATAAAGGCAGCTGCAATGTG -3'
(R):5'- CTACATGGCAACTGTAGGGG -3'

Sequencing Primer
(F):5'- GGCAGCTGCAATGTGAATATAACTTG -3'
(R):5'- ATTGTGGTGACCATCATCTACAGC -3'
Posted On 2016-08-04