Incidental Mutation 'R0414:Or4c112'
ID 40150
Institutional Source Beutler Lab
Gene Symbol Or4c112
Ensembl Gene ENSMUSG00000101391
Gene Name olfactory receptor family 4 subfamily C member 112
Synonyms GA_x6K02T2Q125-50504545-50503631, MOR233-4, Olfr1217
MMRRC Submission 038616-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0414 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 88853339-88854443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88853490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 286 (Y286H)
Ref Sequence ENSEMBL: ENSMUSP00000149931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099799] [ENSMUST00000213669] [ENSMUST00000214022] [ENSMUST00000216000] [ENSMUST00000216592] [ENSMUST00000217000]
AlphaFold Q8VGG1
Predicted Effect probably damaging
Transcript: ENSMUST00000099799
AA Change: Y286H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097387
Gene: ENSMUSG00000101391
AA Change: Y286H

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 5.7e-48 PFAM
Pfam:7tm_1 39 286 6.3e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213669
AA Change: Y286H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214022
AA Change: Y286H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216000
Predicted Effect probably damaging
Transcript: ENSMUST00000216592
AA Change: Y286H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218738
Meta Mutation Damage Score 0.2666 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 96% (64/67)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik A T 5: 103,797,356 (GRCm39) V51E probably benign Het
Abo T C 2: 26,733,428 (GRCm39) Y259C probably damaging Het
Adamts5 A G 16: 85,674,794 (GRCm39) S457P probably damaging Het
Alk G T 17: 72,206,281 (GRCm39) probably benign Het
Alpk2 A G 18: 65,439,230 (GRCm39) I1188T probably benign Het
Ambra1 T C 2: 91,706,084 (GRCm39) S730P possibly damaging Het
Arhgef2 T C 3: 88,539,575 (GRCm39) probably benign Het
Atpsckmt T A 15: 31,617,148 (GRCm39) Y126* probably null Het
B3gnt7 T C 1: 86,233,351 (GRCm39) I82T probably damaging Het
B4galnt3 T C 6: 120,193,526 (GRCm39) D400G probably benign Het
Bag4 A G 8: 26,258,025 (GRCm39) V434A possibly damaging Het
Cfap251 A G 5: 123,425,476 (GRCm39) probably null Het
Cfc1 A G 1: 34,576,409 (GRCm39) D130G probably damaging Het
Chd4 T C 6: 125,084,443 (GRCm39) Y692H probably damaging Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Clec2m T C 6: 129,303,813 (GRCm39) probably benign Het
Crybg2 GAGAAGAAG GAGAAG 4: 133,799,947 (GRCm39) probably benign Het
Dnah2 T C 11: 69,390,064 (GRCm39) D727G probably benign Het
Dock10 C A 1: 80,513,650 (GRCm39) V1129F possibly damaging Het
Dsc1 A T 18: 20,221,411 (GRCm39) I688N possibly damaging Het
Dyrk1a C G 16: 94,464,701 (GRCm39) T103R probably damaging Het
Ebf1 C T 11: 44,815,297 (GRCm39) R304* probably null Het
Eif2s2 A G 2: 154,726,381 (GRCm39) probably benign Het
Endov T G 11: 119,390,397 (GRCm39) Y8* probably null Het
Eps15 T A 4: 109,223,677 (GRCm39) D485E probably damaging Het
Fam118a C A 15: 84,929,890 (GRCm39) S39R probably damaging Het
Fbxo22 T A 9: 55,130,910 (GRCm39) M393K possibly damaging Het
Firrm T C 1: 163,795,890 (GRCm39) I434V probably benign Het
Gab1 A G 8: 81,526,918 (GRCm39) I60T probably damaging Het
Gapvd1 A G 2: 34,583,439 (GRCm39) L1059P probably benign Het
Gbp5 A G 3: 142,213,674 (GRCm39) probably null Het
Glb1l2 T A 9: 26,676,400 (GRCm39) K487* probably null Het
H1f1 A G 13: 23,948,141 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,591,573 (GRCm39) I1875M possibly damaging Het
Jkamp T C 12: 72,140,919 (GRCm39) probably null Het
Kprp C T 3: 92,733,020 (GRCm39) C10Y probably damaging Het
Lrig2 A G 3: 104,401,372 (GRCm39) probably null Het
Lrrn3 T A 12: 41,503,939 (GRCm39) N126I probably damaging Het
Mug1 T C 6: 121,833,513 (GRCm39) F325L probably benign Het
Myadm AC ACC 7: 3,345,276 (GRCm39) probably null Het
Nagk C T 6: 83,774,249 (GRCm39) R87* probably null Het
Nipal4 T A 11: 46,052,735 (GRCm39) I77F probably damaging Het
Osbp2 T C 11: 3,769,932 (GRCm39) H250R probably damaging Het
Pcx T C 19: 4,657,670 (GRCm39) V378A possibly damaging Het
Pfkp T A 13: 6,643,246 (GRCm39) H524L probably benign Het
Picalm A T 7: 89,838,406 (GRCm39) N370I possibly damaging Het
Plcl2 A C 17: 50,914,983 (GRCm39) D664A possibly damaging Het
Ptpn5 G A 7: 46,732,884 (GRCm39) P320S probably benign Het
Scn3a T A 2: 65,356,326 (GRCm39) probably benign Het
Sfswap A G 5: 129,581,115 (GRCm39) D96G possibly damaging Het
Slfn1 A G 11: 83,012,096 (GRCm39) I71V probably benign Het
Spata1 A G 3: 146,181,943 (GRCm39) probably null Het
Stx18 T C 5: 38,262,349 (GRCm39) probably benign Het
Suox T A 10: 128,507,326 (GRCm39) H234L probably benign Het
Tbc1d17 T C 7: 44,495,483 (GRCm39) S114G probably benign Het
Tfeb T A 17: 48,099,224 (GRCm39) probably null Het
Tnks A C 8: 35,320,463 (GRCm39) V736G probably damaging Het
Wdhd1 T C 14: 47,514,045 (GRCm39) T4A probably benign Het
Other mutations in Or4c112
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Or4c112 APN 2 88,853,519 (GRCm39) missense probably benign 0.00
IGL02034:Or4c112 APN 2 88,854,015 (GRCm39) missense probably benign 0.07
IGL03328:Or4c112 APN 2 88,854,199 (GRCm39) nonsense probably null
R0153:Or4c112 UTSW 2 88,853,540 (GRCm39) missense probably benign 0.00
R0544:Or4c112 UTSW 2 88,854,170 (GRCm39) missense probably damaging 1.00
R1994:Or4c112 UTSW 2 88,853,487 (GRCm39) missense probably damaging 1.00
R2217:Or4c112 UTSW 2 88,853,770 (GRCm39) missense probably benign 0.41
R3738:Or4c112 UTSW 2 88,853,954 (GRCm39) missense probably damaging 1.00
R3794:Or4c112 UTSW 2 88,853,770 (GRCm39) missense probably benign 0.41
R3808:Or4c112 UTSW 2 88,853,770 (GRCm39) missense probably benign 0.41
R3809:Or4c112 UTSW 2 88,853,770 (GRCm39) missense probably benign 0.41
R5252:Or4c112 UTSW 2 88,853,598 (GRCm39) missense probably damaging 0.98
R5448:Or4c112 UTSW 2 88,853,845 (GRCm39) missense probably benign
R7524:Or4c112 UTSW 2 88,854,315 (GRCm39) missense probably benign 0.01
R8031:Or4c112 UTSW 2 88,853,972 (GRCm39) missense probably damaging 1.00
R8911:Or4c112 UTSW 2 88,854,294 (GRCm39) missense probably benign 0.01
R9069:Or4c112 UTSW 2 88,854,308 (GRCm39) missense probably damaging 1.00
R9452:Or4c112 UTSW 2 88,854,234 (GRCm39) missense
R9477:Or4c112 UTSW 2 88,853,615 (GRCm39) missense probably benign 0.00
R9682:Or4c112 UTSW 2 88,854,296 (GRCm39) missense possibly damaging 0.80
Z1176:Or4c112 UTSW 2 88,854,240 (GRCm39) missense probably damaging 1.00
Z1176:Or4c112 UTSW 2 88,854,139 (GRCm39) missense possibly damaging 0.60
Z1177:Or4c112 UTSW 2 88,853,784 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTCCTCTCCACTGAACTGGATAC -3'
(R):5'- GACGTAAAGCTCTCTCCACCTGTG -3'

Sequencing Primer
(F):5'- gtcctcttctccatctgtctc -3'
(R):5'- CTGTGGGTCCCATATAACTGTTG -3'
Posted On 2013-05-23