Incidental Mutation 'R2217:Or4c112'
ID 241193
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 040219-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R2217 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88853339-88854443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88853770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 192 (H192Q)
Ref Sequence ENSEMBL: ENSMUSP00000149931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099799] [ENSMUST00000213669] [ENSMUST00000214022] [ENSMUST00000216592]
AlphaFold Q8VGG1
Predicted Effect probably benign
Transcript: ENSMUST00000099799
AA Change: H192Q

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097387
Gene: ENSMUSG00000101391
AA Change: H192Q

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 5.7e-48 PFAM
Pfam:7tm_1 39 286 6.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213669
AA Change: H192Q

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000214022
AA Change: H192Q

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000216592
AA Change: H192Q

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.3954 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,709,128 (GRCm39) K232E probably benign Het
Apba1 T C 19: 23,871,326 (GRCm39) M386T probably damaging Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Cacna1c T C 6: 118,647,368 (GRCm39) Y809C probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Catsperb T C 12: 101,560,478 (GRCm39) L823P probably damaging Het
Crb3 T C 17: 57,372,090 (GRCm39) S46P probably benign Het
Daam1 G A 12: 72,036,601 (GRCm39) R1058H probably damaging Het
Ehd1 T A 19: 6,348,502 (GRCm39) D493E probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
Epg5 T A 18: 77,992,287 (GRCm39) M328K probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hmcn2 A T 2: 31,240,586 (GRCm39) T494S probably benign Het
Hydin G A 8: 111,145,138 (GRCm39) V830I probably benign Het
Map3k6 T A 4: 132,973,983 (GRCm39) H487Q possibly damaging Het
Myh14 G A 7: 44,283,800 (GRCm39) P735S probably damaging Het
Nfkb2 T C 19: 46,296,163 (GRCm39) probably null Het
Nlrp4c T C 7: 6,076,113 (GRCm39) V671A probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Pak5 A G 2: 135,958,123 (GRCm39) S322P probably damaging Het
Pank2 A G 2: 131,124,601 (GRCm39) probably null Het
Phf6 A T X: 52,031,525 (GRCm39) I272F probably damaging Het
Plxna2 T C 1: 194,480,056 (GRCm39) L1409P probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Psma1 C T 7: 113,864,173 (GRCm39) E227K unknown Het
Ptger1 C T 8: 84,395,357 (GRCm39) T278I probably benign Het
Slc20a2 C A 8: 23,050,532 (GRCm39) S250R probably benign Het
Slc27a2 A G 2: 126,409,672 (GRCm39) T285A probably damaging Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Slf1 T A 13: 77,194,825 (GRCm39) probably null Het
Tiam2 A G 17: 3,465,389 (GRCm39) T373A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Trpm2 T A 10: 77,777,016 (GRCm39) D427V probably damaging Het
Vax2 A T 6: 83,714,871 (GRCm39) Y262F probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp27 A G 7: 29,595,536 (GRCm39) L143P possibly damaging 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
R0414:Or4c112 UTSW 2 88,853,490 (GRCm39) missense probably damaging 1.00
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
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'- AGAATGCAGAAGTAGGTCTTGC -3'
(R):5'- TATGTGGCCATTTGCAAGCC -3'

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