Incidental Mutation 'R2923:Or4c113'
ID 255604
Institutional Source Beutler Lab
Gene Symbol Or4c113
Ensembl Gene ENSMUSG00000075105
Gene Name olfactory receptor family 4 subfamily C member 113
Synonyms GA_x6K02T2Q125-50536041-50535106, Olfr1218, MOR233-12
MMRRC Submission 040508-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R2923 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 88884833-88885768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88884843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 309 (V309A)
Ref Sequence ENSEMBL: ENSMUSP00000149671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099798] [ENSMUST00000213609] [ENSMUST00000215048] [ENSMUST00000215054]
AlphaFold L7MU54
Predicted Effect probably benign
Transcript: ENSMUST00000099798
AA Change: V309A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097386
Gene: ENSMUSG00000075105
AA Change: V309A

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.4e-45 PFAM
Pfam:7tm_1 39 286 2.2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213609
AA Change: V309A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000215048
AA Change: V309A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000215054
AA Change: V309A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,467,518 (GRCm39) C368S probably damaging Het
Adamts3 T C 5: 90,009,393 (GRCm39) D90G possibly damaging Het
Astn2 T C 4: 65,832,010 (GRCm39) Y500C probably damaging Het
Atp12a A T 14: 56,612,079 (GRCm39) T418S probably benign Het
Atp6v0a2 C T 5: 124,794,981 (GRCm39) T656M possibly damaging Het
Camsap2 G A 1: 136,208,547 (GRCm39) P971S possibly damaging Het
Ccdc116 T C 16: 16,960,307 (GRCm39) H170R probably benign Het
Ccn5 G A 2: 163,674,266 (GRCm39) R222Q probably benign Het
Cemip2 A G 19: 21,795,303 (GRCm39) D732G possibly damaging Het
Clpb A G 7: 101,372,035 (GRCm39) D257G probably benign Het
Cpb2 T C 14: 75,493,473 (GRCm39) probably null Het
D430041D05Rik G A 2: 104,085,660 (GRCm39) T164I possibly damaging Het
Dhx40 T G 11: 86,680,089 (GRCm39) Q416P probably benign Het
Dnah17 A G 11: 117,984,373 (GRCm39) F1636S probably damaging Het
Fhl3 T C 4: 124,599,463 (GRCm39) S13P probably damaging Het
Gapvd1 A T 2: 34,578,875 (GRCm39) I1249N probably damaging Het
Gm10604 C T 4: 11,980,122 (GRCm39) A61T unknown Het
Gm20939 T A 17: 95,184,721 (GRCm39) H456Q probably damaging Het
Golga4 T A 9: 118,388,411 (GRCm39) S1844R possibly damaging Het
Grm6 G C 11: 50,755,348 (GRCm39) G827R probably damaging Het
Grm7 T A 6: 111,472,866 (GRCm39) probably null Het
Hdc G A 2: 126,435,910 (GRCm39) P654S probably damaging Het
Hoxb1 T C 11: 96,257,119 (GRCm39) L156P probably benign Het
Ipo9 G T 1: 135,327,867 (GRCm39) Q515K probably benign Het
Kcnk3 T C 5: 30,779,414 (GRCm39) S155P probably damaging Het
Mboat2 T A 12: 25,004,239 (GRCm39) W347R probably damaging Het
Mib1 C T 18: 10,760,831 (GRCm39) Q374* probably null Het
Ncor2 A G 5: 125,132,855 (GRCm39) F44S probably damaging Het
Nipal3 A T 4: 135,204,776 (GRCm39) I125N probably damaging Het
Or51a43 A G 7: 103,717,794 (GRCm39) V148A probably benign Het
Ovch2 A G 7: 107,389,596 (GRCm39) L317P possibly damaging Het
Pnpla2 T A 7: 141,035,380 (GRCm39) C61S probably benign Het
Ppp1r16b G T 2: 158,598,877 (GRCm39) L312F probably damaging Het
Rdm1 T A 11: 101,521,716 (GRCm39) L157H possibly damaging Het
Rpl22 C A 4: 152,412,002 (GRCm39) T26N possibly damaging Het
Rptn A G 3: 93,306,015 (GRCm39) Y1116C possibly damaging Het
Serpinb5 G A 1: 106,803,770 (GRCm39) S152N probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
St8sia1 A T 6: 142,774,963 (GRCm39) F205L probably damaging Het
Stab2 A G 10: 86,697,325 (GRCm39) Y1988H probably damaging Het
Susd3 A T 13: 49,401,945 (GRCm39) M1K probably null Het
Syne3 A T 12: 104,934,343 (GRCm39) L55Q probably damaging Het
Tmx1 T A 12: 70,512,895 (GRCm39) C268S probably benign Het
Ttll1 T C 15: 83,376,760 (GRCm39) K321R probably damaging Het
Zdhhc18 G T 4: 133,360,455 (GRCm39) H82Q probably benign Het
Zhx1 T C 15: 57,917,077 (GRCm39) I390V probably damaging Het
Other mutations in Or4c113
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01652:Or4c113 APN 2 88,884,913 (GRCm39) missense probably damaging 1.00
IGL03089:Or4c113 APN 2 88,885,357 (GRCm39) missense probably benign 0.34
IGL03387:Or4c113 APN 2 88,885,457 (GRCm39) missense probably damaging 1.00
R0350:Or4c113 UTSW 2 88,885,700 (GRCm39) missense probably benign 0.10
R0699:Or4c113 UTSW 2 88,885,636 (GRCm39) missense possibly damaging 0.67
R1609:Or4c113 UTSW 2 88,885,688 (GRCm39) missense probably benign
R1856:Or4c113 UTSW 2 88,885,203 (GRCm39) missense possibly damaging 0.95
R1972:Or4c113 UTSW 2 88,884,891 (GRCm39) missense probably benign 0.05
R2066:Or4c113 UTSW 2 88,885,243 (GRCm39) missense probably damaging 0.99
R2921:Or4c113 UTSW 2 88,884,843 (GRCm39) missense probably benign 0.04
R4037:Or4c113 UTSW 2 88,885,032 (GRCm39) missense probably damaging 0.99
R4585:Or4c113 UTSW 2 88,885,498 (GRCm39) missense possibly damaging 0.77
R4586:Or4c113 UTSW 2 88,885,498 (GRCm39) missense possibly damaging 0.77
R5041:Or4c113 UTSW 2 88,885,265 (GRCm39) nonsense probably null
R5124:Or4c113 UTSW 2 88,885,431 (GRCm39) missense probably damaging 0.96
R5138:Or4c113 UTSW 2 88,885,291 (GRCm39) missense probably benign 0.00
R5415:Or4c113 UTSW 2 88,885,240 (GRCm39) missense probably benign 0.00
R5501:Or4c113 UTSW 2 88,885,230 (GRCm39) nonsense probably null
R5941:Or4c113 UTSW 2 88,884,963 (GRCm39) missense probably benign
R5991:Or4c113 UTSW 2 88,885,126 (GRCm39) missense probably benign 0.01
R6396:Or4c113 UTSW 2 88,885,641 (GRCm39) missense probably benign 0.36
R7047:Or4c113 UTSW 2 88,885,490 (GRCm39) missense probably damaging 0.98
R8038:Or4c113 UTSW 2 88,885,212 (GRCm39) missense probably damaging 1.00
R8387:Or4c113 UTSW 2 88,885,646 (GRCm39) missense probably benign
R8403:Or4c113 UTSW 2 88,884,948 (GRCm39) missense probably benign 0.00
R8794:Or4c113 UTSW 2 88,885,477 (GRCm39) missense probably benign
R8907:Or4c113 UTSW 2 88,885,542 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AAACCCTGGGATCTGCCAATC -3'
(R):5'- AGGACGAAGGAAAGCTCTTTC -3'

Sequencing Primer
(F):5'- gattctgacatgccttgt -3'
(R):5'- AGCCCACGTTACTGTTGTAG -3'
Posted On 2014-12-29