Incidental Mutation 'R6396:Or4c113'
ID 515993
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 044544-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6396 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88884833-88885768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88885641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 43 (I43T)
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: I43T

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097386
Gene: ENSMUSG00000075105
AA Change: I43T

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: I43T

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000215048
AA Change: I43T

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000215054
AA Change: I43T

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 97.9%
Validation Efficiency 100% (36/36)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 A T 7: 16,296,224 (GRCm39) I947K probably damaging Het
B3galnt2 A T 13: 14,170,333 (GRCm39) I447F probably damaging Het
Cacna2d3 C A 14: 29,118,522 (GRCm39) V134L probably benign Het
Clcn4 C T 7: 7,297,024 (GRCm39) G145S probably damaging Het
Cndp1 A T 18: 84,650,135 (GRCm39) M186K probably benign Het
Cntn6 A G 6: 104,627,461 (GRCm39) Y98C probably damaging Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dyrk1a C A 16: 94,472,299 (GRCm39) Q230K probably damaging Het
Ech1 C T 7: 28,529,763 (GRCm39) probably null Het
Fam81b T A 13: 76,399,968 (GRCm39) R97W probably damaging Het
Heatr1 A G 13: 12,420,978 (GRCm39) E423G possibly damaging Het
Hydin A T 8: 111,233,521 (GRCm39) K1786N probably damaging Het
Igf2r T C 17: 12,932,977 (GRCm39) I848M probably benign Het
Igkv10-96 G A 6: 68,608,969 (GRCm39) Q109* probably null Het
Mup6 T C 4: 60,004,837 (GRCm39) I76T possibly damaging Het
Nmt2 A G 2: 3,315,738 (GRCm39) R243G probably benign Het
Nsd1 G A 13: 55,386,602 (GRCm39) G119D probably damaging Het
Or1ad8 A G 11: 50,898,312 (GRCm39) H171R possibly damaging Het
Or4c120 T G 2: 89,001,034 (GRCm39) D174A probably damaging Het
Or51ab3 C T 7: 103,201,888 (GRCm39) Q299* probably null Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pank3 T C 11: 35,669,516 (GRCm39) V250A probably damaging Het
Pcdh10 A G 3: 45,334,495 (GRCm39) I270V possibly damaging Het
Pnp2 T A 14: 51,200,616 (GRCm39) V94E probably damaging Het
Prdm10 T C 9: 31,229,842 (GRCm39) V86A possibly damaging Het
Resf1 A G 6: 149,229,417 (GRCm39) D821G probably damaging Het
Riox1 G A 12: 83,998,087 (GRCm39) D208N possibly damaging Het
Rrp15 A G 1: 186,469,783 (GRCm39) probably null Het
Skor1 G T 9: 63,052,232 (GRCm39) P579Q probably damaging Het
Slc44a4 T A 17: 35,147,860 (GRCm39) Y481* probably null Het
Smg7 A T 1: 152,724,351 (GRCm39) V610E probably benign Het
Tlx1 A G 19: 45,144,491 (GRCm39) Q71R probably damaging Het
Vmn2r27 A T 6: 124,201,125 (GRCm39) Y277* probably null Het
Zswim2 T A 2: 83,754,062 (GRCm39) R199S 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
R2923: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
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'- GACTGAAAACAGTTGCATCATGC -3'
(R):5'- ATTCAAGAGCGTTGTACCCC -3'

Sequencing Primer
(F):5'- CAACAGCCAAAGGAGATGGTCTTC -3'
(R):5'- AATAGACTCCTCAATGCAAA -3'
Posted On 2018-05-04