Incidental Mutation 'R7047:Or4c113'
ID 547357
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 045145-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R7047 (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 T at 88885490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 93 (F93L)
Ref Sequence ENSEMBL: ENSMUSP00000149671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099798] [ENSMUST00000213609] [ENSMUST00000215048] [ENSMUST00000215054]
AlphaFold L7MU54
Predicted Effect probably damaging
Transcript: ENSMUST00000099798
AA Change: F93L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097386
Gene: ENSMUSG00000075105
AA Change: F93L

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.4e-45 PFAM
Pfam:7tm_1 39 286 2.2e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213609
AA Change: F93L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215048
AA Change: F93L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215054
AA Change: F93L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.3283 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (53/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,382,131 (GRCm39) I1278N possibly damaging Het
Adcy5 T A 16: 35,087,585 (GRCm39) L482Q probably damaging Het
Adora2a A G 10: 75,162,145 (GRCm39) I95V probably damaging Het
Anapc1 A C 2: 128,457,350 (GRCm39) C1887G probably damaging Het
Arfgef2 T A 2: 166,693,865 (GRCm39) probably null Het
Capn11 G T 17: 45,949,622 (GRCm39) S448* probably null Het
Capn7 C T 14: 31,058,642 (GRCm39) probably benign Het
Cep55 T A 19: 38,048,539 (GRCm39) V65D possibly damaging Het
Col5a1 A G 2: 27,818,096 (GRCm39) K107R unknown Het
Dbh T A 2: 27,055,622 (GRCm39) I32N possibly damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dzip3 A T 16: 48,802,489 (GRCm39) N13K probably benign Het
Emilin1 A G 5: 31,074,422 (GRCm39) N221S probably benign Het
Ext2 A G 2: 93,570,002 (GRCm39) F470L probably damaging Het
Filip1 T A 9: 79,760,916 (GRCm39) Q206L probably damaging Het
Garin1b T A 6: 29,323,809 (GRCm39) L178H probably damaging Het
Gpr63 G T 4: 25,007,320 (GRCm39) A15S probably benign Het
Grhl3 T C 4: 135,276,551 (GRCm39) probably null Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Ift172 G T 5: 31,433,238 (GRCm39) Y193* probably null Het
Ints1 A C 5: 139,744,226 (GRCm39) L1512* probably null Het
Kat2b A G 17: 53,970,597 (GRCm39) Q661R probably benign Het
Kat6a A G 8: 23,428,554 (GRCm39) N1303S possibly damaging Het
L3mbtl4 G T 17: 68,768,561 (GRCm39) R223L probably benign Het
Maml2 T C 9: 13,532,177 (GRCm39) probably benign Het
Mixl1 A G 1: 180,524,183 (GRCm39) probably null Het
Mocs1 T C 17: 49,759,887 (GRCm39) probably null Het
Ms4a15 T G 19: 10,962,236 (GRCm39) N36T probably damaging Het
Msr1 G A 8: 40,095,657 (GRCm39) T2I possibly damaging Het
Nlgn1 A C 3: 25,490,199 (GRCm39) Y509* probably null Het
Nsmce1 C A 7: 125,090,606 (GRCm39) G4C probably benign Het
Or51v15-ps1 A G 7: 103,278,918 (GRCm39) V83A probably damaging Het
Pan3 G A 5: 147,483,175 (GRCm39) G452D probably damaging Het
Pcyox1 G T 6: 86,365,891 (GRCm39) P441H probably damaging Het
Phf12 T C 11: 77,904,099 (GRCm39) V273A probably damaging Het
Plcd4 A G 1: 74,591,148 (GRCm39) E181G possibly damaging Het
Ptgfr A T 3: 151,541,178 (GRCm39) I110N possibly damaging Het
Rab40c A C 17: 26,138,458 (GRCm39) V8G probably damaging Het
Rasal3 T A 17: 32,615,458 (GRCm39) Y460F probably damaging Het
Rhbdf2 A G 11: 116,494,477 (GRCm39) probably null Het
Ryr2 T A 13: 11,839,286 (GRCm39) N496Y possibly damaging Het
Sacs A T 14: 61,450,451 (GRCm39) I4166F probably damaging Het
Sh2d3c T C 2: 32,611,172 (GRCm39) M1T probably null Het
Smarca2 C T 19: 26,646,555 (GRCm39) S651L possibly damaging Het
Sned1 A T 1: 93,213,540 (GRCm39) R1204S possibly damaging Het
Spata31d1b T C 13: 59,860,249 (GRCm39) Y41H probably damaging Het
Stab2 C T 10: 86,694,016 (GRCm39) C2075Y probably damaging Het
Tcte1 A T 17: 45,844,294 (GRCm39) Q90L possibly damaging Het
Tll2 C T 19: 41,074,679 (GRCm39) G945S probably damaging Het
Tmbim7 A T 5: 3,720,112 (GRCm39) T116S probably benign Het
Tnfrsf19 A T 14: 61,242,667 (GRCm39) C72* probably null Het
Usp17le T A 7: 104,417,640 (GRCm39) T501S probably benign Het
Wnt5b T A 6: 119,425,217 (GRCm39) probably benign 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
R6396:Or4c113 UTSW 2 88,885,641 (GRCm39) missense probably benign 0.36
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'- CTGCCCAGGATATTGCTACC -3'
(R):5'- AATCTTGGGGCTTTCTCAGAACC -3'

Sequencing Primer
(F):5'- TGCCCAGGATATTGCTACCAAAATG -3'
(R):5'- TGGGGCTTTCTCAGAACCCAATAG -3'
Posted On 2019-05-13