Incidental Mutation 'R6766:Or4c116'
ID 531904
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 044882-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R6766 (G1)
Quality Score 225.009
Status Not 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: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 G A 8: 25,362,646 (GRCm39) S17L probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Ankrd34c A G 9: 89,611,381 (GRCm39) V320A probably benign Het
Aox1 C A 1: 58,388,227 (GRCm39) L1112I possibly damaging Het
Arap2 A C 5: 62,834,443 (GRCm39) probably null Het
Atm A T 9: 53,401,582 (GRCm39) I1429N probably damaging Het
Ccdc68 A G 18: 70,099,861 (GRCm39) N290D probably damaging Het
Chst1 T C 2: 92,443,542 (GRCm39) W5R probably damaging Het
Clip1 G T 5: 123,752,827 (GRCm39) probably benign Het
Crebbp T C 16: 3,935,364 (GRCm39) T842A probably damaging Het
Cyp2b13 T C 7: 25,781,236 (GRCm39) probably null Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock1 T A 7: 134,358,522 (GRCm39) probably null Het
Dst A G 1: 34,333,564 (GRCm39) I4800V probably damaging Het
Efcab7 CAAGTAAAGTAA CAAGTAA 4: 99,735,161 (GRCm39) probably null Het
Epb41l2 C T 10: 25,348,990 (GRCm39) Q382* probably null Het
Fam83e A G 7: 45,376,070 (GRCm39) D261G probably damaging Het
Ifnk T G 4: 35,152,134 (GRCm39) S21A possibly damaging Het
Ift122 A G 6: 115,903,204 (GRCm39) H1157R probably benign Het
Ighv1-67 T C 12: 115,567,654 (GRCm39) K67R possibly damaging Het
Inpp4a C A 1: 37,411,422 (GRCm39) A97D probably damaging Het
Insm1 T A 2: 146,065,346 (GRCm39) Y387* probably null Het
Irgm1 T C 11: 48,756,928 (GRCm39) I294M possibly damaging Het
Isoc2b C T 7: 4,854,061 (GRCm39) V104M probably damaging Het
Kif2c A C 4: 117,024,280 (GRCm39) S311R probably benign Het
Morn3 G A 5: 123,179,270 (GRCm39) A60V probably damaging Het
Oit3 T C 10: 59,274,534 (GRCm39) N89D probably damaging Het
Or14c40 A T 7: 86,313,293 (GRCm39) N141I probably damaging Het
Or4c127 T C 2: 89,832,876 (GRCm39) V42A probably benign Het
Or5d44 T A 2: 88,142,095 (GRCm39) Q15L noncoding transcript Het
Or8b48 A C 9: 38,493,069 (GRCm39) R165S probably damaging Het
Pan2 C A 10: 128,150,381 (GRCm39) N708K possibly damaging Het
Parp1 T A 1: 180,425,927 (GRCm39) V886E probably damaging Het
Pcdha8 C A 18: 37,127,753 (GRCm39) A745E probably benign Het
Pcyox1 C T 6: 86,371,390 (GRCm39) probably null Het
Prl2c2 A T 13: 13,176,713 (GRCm39) probably null Het
Samd1 T C 8: 84,726,361 (GRCm39) S473P possibly damaging Het
Slc26a1 A T 5: 108,819,773 (GRCm39) D475E probably damaging Het
Slco1c1 T C 6: 141,493,535 (GRCm39) V239A possibly damaging Het
Smo T A 6: 29,736,044 (GRCm39) L12Q unknown Homo
Srpk1 C T 17: 28,821,727 (GRCm39) R229Q possibly damaging Het
Syn2 T A 6: 115,216,362 (GRCm39) F191L probably damaging Het
Syngr2 T C 11: 117,704,261 (GRCm39) V182A probably benign Het
Tarbp1 G A 8: 127,174,139 (GRCm39) A889V probably benign Het
Tbc1d2b T C 9: 90,108,262 (GRCm39) T430A probably benign Het
Tmem217 T A 17: 29,745,484 (GRCm39) Y82F probably damaging Het
Ttll9 T A 2: 152,841,220 (GRCm39) Y272* probably null Het
Uts2r A G 11: 121,052,033 (GRCm39) Y299C probably damaging Het
Vsig8 T A 1: 172,388,143 (GRCm39) M37K probably benign Het
Vwf G T 6: 125,616,339 (GRCm39) D1218Y unknown Het
Wdr11 T G 7: 129,226,036 (GRCm39) M727R probably benign Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Yod1 T A 1: 130,647,008 (GRCm39) L295* probably null Het
Zfp113 G T 5: 138,143,608 (GRCm39) S214* probably null Het
Zfp438 T A 18: 5,213,780 (GRCm39) M393L probably benign Het
Zfp946 G A 17: 22,674,752 (GRCm39) C502Y 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
R6765: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