Incidental Mutation 'R6765:Or4c116'
ID 531846
Institutional Source Beutler Lab
Gene Symbol Or4c116
Ensembl Gene ENSMUSG00000075102
Gene Name olfactory receptor family 4 subfamily C member 116
Synonyms Olfr1221, MOR233-3, GA_x6K02T2Q125-50591144-50590209
MMRRC Submission 044881-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R6765 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88941919-88942854 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88942640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 72 (T72N)
Ref Sequence ENSEMBL: ENSMUSP00000149330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099795] [ENSMUST00000143255] [ENSMUST00000213404] [ENSMUST00000217635]
AlphaFold L7MU53
Predicted Effect possibly damaging
Transcript: ENSMUST00000099795
AA Change: T72N

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097383
Gene: ENSMUSG00000075102
AA Change: T72N

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 5.6e-48 PFAM
Pfam:7tm_1 39 302 3.6e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000143255
AA Change: T72N

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213404
AA Change: T72N

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217635
AA Change: T72N

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (58/58)
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
Adamtsl3 C A 7: 82,216,232 (GRCm39) D878E possibly damaging Het
Adipor2 A C 6: 119,334,203 (GRCm39) F336V possibly damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Aoc1 A G 6: 48,882,871 (GRCm39) N249S probably benign Het
Ap1b1 T A 11: 4,969,427 (GRCm39) L261Q probably damaging Het
Ap3b1 T A 13: 94,599,017 (GRCm39) D530E probably benign Het
Arid4b T A 13: 14,361,900 (GRCm39) M788K possibly damaging Het
Atp2c2 A T 8: 120,479,756 (GRCm39) I762F probably damaging Het
Bhlhe23 C A 2: 180,418,136 (GRCm39) R134L probably damaging Het
Cacna2d3 T C 14: 28,777,934 (GRCm39) D687G probably damaging Het
Ccdc136 G A 6: 29,405,940 (GRCm39) M95I probably benign Het
Cdk12 T A 11: 98,115,355 (GRCm39) I832N unknown Het
Clcn2 A C 16: 20,526,418 (GRCm39) probably null Het
Csrnp2 C T 15: 100,380,574 (GRCm39) R239Q probably damaging Het
Dhrs13 T A 11: 77,927,965 (GRCm39) D270E probably benign Het
Dlgap2 G A 8: 14,793,284 (GRCm39) G426D probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fam120a A G 13: 49,045,440 (GRCm39) Y799H probably damaging Het
Farp1 G A 14: 121,460,066 (GRCm39) V112I probably benign Het
Fhip2a A G 19: 57,367,177 (GRCm39) D240G probably benign Het
Fsip2 A G 2: 82,816,776 (GRCm39) I4170V probably benign Het
Gm12185 A G 11: 48,806,531 (GRCm39) V220A probably benign Het
Gpr37l1 T C 1: 135,094,860 (GRCm39) Y128C probably damaging Het
Gsto2 A T 19: 47,860,227 (GRCm39) R7* probably null Het
Itih3 C T 14: 30,631,430 (GRCm39) G822D probably benign Het
Kcnu1 A T 8: 26,403,673 (GRCm39) D728V probably damaging Het
Khdc4 G T 3: 88,593,736 (GRCm39) G42W probably damaging Het
Lnpep G A 17: 17,750,758 (GRCm39) T976I probably damaging Het
Map1b A C 13: 99,562,449 (GRCm39) H2420Q unknown Het
Mc1r A G 8: 124,134,435 (GRCm39) K63E probably damaging Het
Mpped1 G A 15: 83,720,584 (GRCm39) V15M probably damaging Het
Ncor1 T C 11: 62,264,272 (GRCm39) T103A probably benign Het
Nhsl1 A T 10: 18,407,062 (GRCm39) T1399S probably benign Het
Nlrc5 C T 8: 95,216,996 (GRCm39) T995M probably benign Het
Nrbp1 G A 5: 31,403,190 (GRCm39) probably null Het
Or10g9 A C 9: 39,912,493 (GRCm39) F10C probably damaging Het
Or8k27 T C 2: 86,275,580 (GRCm39) T249A probably benign Het
Pcdhb13 T C 18: 37,576,663 (GRCm39) L347P probably damaging Het
Pkhd1 T C 1: 20,128,563 (GRCm39) T4047A probably benign Het
Prrt2 T A 7: 126,618,769 (GRCm39) D232V probably damaging Het
Psmd5 A C 2: 34,746,545 (GRCm39) M344R probably benign Het
Pwp1 G A 10: 85,720,397 (GRCm39) E345K probably damaging Het
Qsox1 A G 1: 155,666,851 (GRCm39) Y213H probably benign Het
Rmc1 A G 18: 12,309,203 (GRCm39) N92D possibly damaging Het
Sclt1 T C 3: 41,685,337 (GRCm39) R39G unknown Het
Syne1 A T 10: 5,093,285 (GRCm39) probably null Het
Tmem163 G T 1: 127,479,078 (GRCm39) A147E probably damaging Het
Trav13n-4 A T 14: 53,601,557 (GRCm39) M109L probably benign Het
Trp53bp1 T C 2: 121,039,790 (GRCm39) E1283G probably damaging Het
Trpm6 T A 19: 18,855,129 (GRCm39) D1929E probably damaging Het
Upb1 A T 10: 75,273,978 (GRCm39) D335V probably damaging Het
Vps26b T C 9: 26,924,104 (GRCm39) E213G probably damaging Het
Vwc2 C T 11: 11,104,215 (GRCm39) T249I probably benign Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zan A G 5: 137,391,409 (GRCm39) C4692R unknown Het
Zfp106 T C 2: 120,369,935 (GRCm39) E29G probably damaging Het
Zfp551 G A 7: 12,150,767 (GRCm39) A214V possibly damaging Het
Zfp981 T A 4: 146,622,363 (GRCm39) H429Q probably benign Het
Other mutations in Or4c116
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Or4c116 APN 2 88,942,023 (GRCm39) missense probably benign 0.19
IGL01965:Or4c116 APN 2 88,942,535 (GRCm39) missense probably benign 0.37
IGL02645:Or4c116 APN 2 88,941,963 (GRCm39) missense probably benign 0.00
G1patch:Or4c116 UTSW 2 88,942,640 (GRCm39) missense possibly damaging 0.81
PIT4354001:Or4c116 UTSW 2 88,942,830 (GRCm39) nonsense probably null
R0124:Or4c116 UTSW 2 88,942,088 (GRCm39) missense possibly damaging 0.56
R0940:Or4c116 UTSW 2 88,942,419 (GRCm39) missense probably benign
R3689:Or4c116 UTSW 2 88,942,386 (GRCm39) missense possibly damaging 0.85
R4489:Or4c116 UTSW 2 88,941,916 (GRCm39) splice site probably null
R4706:Or4c116 UTSW 2 88,942,576 (GRCm39) missense probably damaging 0.98
R4707:Or4c116 UTSW 2 88,942,576 (GRCm39) missense probably damaging 0.98
R5133:Or4c116 UTSW 2 88,942,140 (GRCm39) splice site probably null
R6629:Or4c116 UTSW 2 88,942,506 (GRCm39) missense probably benign 0.09
R6644:Or4c116 UTSW 2 88,942,325 (GRCm39) missense probably benign 0.00
R6723:Or4c116 UTSW 2 88,942,640 (GRCm39) missense possibly damaging 0.81
R6725:Or4c116 UTSW 2 88,942,640 (GRCm39) missense possibly damaging 0.81
R6754:Or4c116 UTSW 2 88,942,640 (GRCm39) missense possibly damaging 0.81
R6766:Or4c116 UTSW 2 88,942,640 (GRCm39) missense possibly damaging 0.81
R7215:Or4c116 UTSW 2 88,942,845 (GRCm39) nonsense probably null
R7562:Or4c116 UTSW 2 88,942,629 (GRCm39) missense probably benign 0.00
R7681:Or4c116 UTSW 2 88,941,935 (GRCm39) missense probably benign 0.00
R7981:Or4c116 UTSW 2 88,942,400 (GRCm39) missense probably damaging 1.00
R8318:Or4c116 UTSW 2 88,942,242 (GRCm39) missense probably benign 0.02
R8425:Or4c116 UTSW 2 88,942,737 (GRCm39) missense probably damaging 1.00
R8788:Or4c116 UTSW 2 88,942,626 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCTCATAATGGACAGGTAGTGC -3'
(R):5'- TCAAAGCCTTGTCAATGAGTTC -3'

Sequencing Primer
(F):5'- CAAGGGTTTGCAAATAGCCAC -3'
(R):5'- GAGTTCATACTCCTGGGTCTTTC -3'
Posted On 2018-08-29