Incidental Mutation 'R5133:Or4c116'
ID 395904
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 042721-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R5133 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88941919-88942854 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 88942140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099795] [ENSMUST00000099806] [ENSMUST00000143255] [ENSMUST00000213288] [ENSMUST00000213404] [ENSMUST00000217635]
AlphaFold L7MU53
Predicted Effect probably damaging
Transcript: ENSMUST00000099795
AA Change: C239S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097383
Gene: ENSMUSG00000075102
AA Change: C239S

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 5.6e-48 PFAM
Pfam:7tm_1 39 302 3.6e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000099806
SMART Domains Protein: ENSMUSP00000097394
Gene: ENSMUSG00000101480

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-47 PFAM
Pfam:7tm_1 39 286 3.2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000143255
AA Change: C239S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably null
Transcript: ENSMUST00000213288
Predicted Effect probably damaging
Transcript: ENSMUST00000213404
AA Change: C239S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217635
AA Change: C239S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.0%
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 A T 4: 128,655,934 (GRCm39) T101S probably damaging Het
Abraxas2 C T 7: 132,484,875 (GRCm39) A306V probably benign Het
Acvr1c T A 2: 58,173,518 (GRCm39) N248I probably damaging Het
Adgrv1 C T 13: 81,587,560 (GRCm39) R4537Q probably damaging Het
Adrb3 A C 8: 27,717,798 (GRCm39) M217R probably damaging Het
Afg3l1 T C 8: 124,216,532 (GRCm39) V257A probably benign Het
Agbl1 C A 7: 76,071,904 (GRCm39) Q334K probably benign Het
Aox4 A T 1: 58,275,835 (GRCm39) D389V probably benign Het
Apob A T 12: 8,058,898 (GRCm39) Q2427L probably damaging Het
Asxl3 T C 18: 22,649,765 (GRCm39) C585R probably damaging Het
Baz2a G A 10: 127,951,995 (GRCm39) G571D probably damaging Het
Baz2b A T 2: 59,792,368 (GRCm39) S587T probably benign Het
Bicdl2 T C 17: 23,880,795 (GRCm39) L14P unknown Het
Cachd1 G A 4: 100,851,935 (GRCm39) S1177N probably damaging Het
Cacna2d3 A G 14: 29,015,135 (GRCm39) F86L possibly damaging Het
Ccdc192 C T 18: 57,697,041 (GRCm39) T65I possibly damaging Het
Cd3d A T 9: 44,896,296 (GRCm39) E28D probably damaging Het
Cmya5 T C 13: 93,229,880 (GRCm39) K1736R possibly damaging Het
Col12a1 A G 9: 79,512,456 (GRCm39) V2913A probably damaging Het
Cops8 A G 1: 90,538,724 (GRCm39) D51G probably damaging Het
Csgalnact1 T C 8: 68,913,623 (GRCm39) E194G probably benign Het
Csn1s1 A G 5: 87,828,737 (GRCm39) D267G possibly damaging Het
Cyp2c40 T C 19: 39,795,663 (GRCm39) N172S probably benign Het
Dhtkd1 T A 2: 5,908,813 (GRCm39) K760N probably damaging Het
Dnah17 T C 11: 118,007,939 (GRCm39) K691E probably benign Het
Dppa4 G A 16: 48,113,334 (GRCm39) R189Q probably benign Het
Dsp G A 13: 38,381,678 (GRCm39) D2808N possibly damaging Het
Egr2 A G 10: 67,375,605 (GRCm39) E17G probably damaging Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Epas1 A G 17: 87,116,882 (GRCm39) N184S probably damaging Het
Ezh2 C T 6: 47,517,684 (GRCm39) C584Y probably damaging Het
F10 T C 8: 13,105,698 (GRCm39) V421A probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam186a T G 15: 99,853,374 (GRCm39) D122A unknown Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Fam234b T C 6: 135,186,193 (GRCm39) V67A probably benign Het
Fbn2 T C 18: 58,172,412 (GRCm39) D2131G probably damaging Het
Fgfr4 T C 13: 55,307,828 (GRCm39) Y271H probably damaging Het
Gnmt A T 17: 47,036,860 (GRCm39) S250T probably benign Het
Golgb1 C A 16: 36,711,819 (GRCm39) Q208K possibly damaging Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Grwd1 T C 7: 45,475,298 (GRCm39) T415A probably benign Het
Gsk3b G A 16: 38,060,882 (GRCm39) R418H probably damaging Het
Hap1 T G 11: 100,242,357 (GRCm39) M382L probably benign Het
Hspa12b A G 2: 130,981,428 (GRCm39) E221G possibly damaging Het
Hspa4l T A 3: 40,741,179 (GRCm39) D709E possibly damaging Het
Il17ra A G 6: 120,458,514 (GRCm39) E555G possibly damaging Het
Il27ra T C 8: 84,760,688 (GRCm39) T426A possibly damaging Het
Jup T C 11: 100,273,941 (GRCm39) D200G probably benign Het
Kcnq1 T C 7: 142,748,083 (GRCm39) probably null Het
Kctd9 C T 14: 67,966,805 (GRCm39) T106I probably damaging Het
Kmt5b T A 19: 3,852,240 (GRCm39) H159Q probably damaging Het
Kprp C T 3: 92,731,829 (GRCm39) R407Q unknown Het
Kras T C 6: 145,177,879 (GRCm39) Q131R probably benign Het
Krt16 T A 11: 100,138,457 (GRCm39) R230S probably damaging Het
Lpar6 G A 14: 73,476,147 (GRCm39) C36Y probably damaging Het
Lrp10 T C 14: 54,707,067 (GRCm39) S635P probably benign Het
Mapre2 C A 18: 23,991,190 (GRCm39) H153N possibly damaging Het
Mark3 C A 12: 111,621,762 (GRCm39) R703S probably damaging Het
Mboat2 A G 12: 25,009,065 (GRCm39) D457G probably benign Het
Med13 T C 11: 86,210,675 (GRCm39) D489G probably benign Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Mtus1 T C 8: 41,536,229 (GRCm39) T496A probably benign Het
Nckap5 T C 1: 125,961,697 (GRCm39) H204R probably benign Het
Nlrc4 G T 17: 74,753,712 (GRCm39) P224T possibly damaging Het
Oprl1 T A 2: 181,360,403 (GRCm39) I153N probably damaging Het
Or13a27 A T 7: 139,925,236 (GRCm39) I222N probably damaging Het
Or5an1 T C 19: 12,260,670 (GRCm39) L86P possibly damaging Het
Or5b121 T A 19: 13,507,442 (GRCm39) M135K probably damaging Het
Otud4 G A 8: 80,382,318 (GRCm39) V176I probably damaging Het
Pcdhb5 T C 18: 37,453,943 (GRCm39) F108L probably benign Het
Pde8b T C 13: 95,223,250 (GRCm39) I335V probably benign Het
Pdzd7 T A 19: 45,016,868 (GRCm39) I886L possibly damaging Het
Prune2 C T 19: 16,980,995 (GRCm39) P51S probably damaging Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Pwwp3a T C 10: 80,068,702 (GRCm39) L282P probably benign Het
Rab27b T C 18: 70,122,659 (GRCm39) D100G probably damaging Het
Rpf1 A G 3: 146,212,293 (GRCm39) L349S probably damaging Het
Samd14 T C 11: 94,912,409 (GRCm39) S233P probably damaging Het
Sema6a C A 18: 47,433,195 (GRCm39) V79F probably damaging Het
Setbp1 A G 18: 78,900,697 (GRCm39) I990T probably damaging Het
Setx A G 2: 29,070,093 (GRCm39) R2633G probably benign Het
Siae T G 9: 37,557,816 (GRCm39) I541S possibly damaging Het
Slc13a1 A G 6: 24,103,428 (GRCm39) S372P possibly damaging Het
Smarcc2 T C 10: 128,297,342 (GRCm39) probably null Het
Snrpf T C 10: 93,423,985 (GRCm39) S2G probably benign Het
Speer2 C A 16: 69,655,708 (GRCm39) K39N probably null Het
Spink5 T G 18: 44,119,490 (GRCm39) F267C probably damaging Het
Tgfbrap1 G T 1: 43,114,666 (GRCm39) R145S probably damaging Het
Tmem161b C A 13: 84,442,887 (GRCm39) T269K possibly damaging Het
Tmem64 T C 4: 15,281,119 (GRCm39) I304T probably damaging Het
Tomm7 A G 5: 24,049,004 (GRCm39) I23T probably benign Het
Top6bl T A 19: 4,708,449 (GRCm39) S194C probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttr C T 18: 20,803,167 (GRCm39) A111V possibly damaging Het
Usp47 T A 7: 111,683,089 (GRCm39) Y561N probably damaging Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Wdr45b A G 11: 121,219,621 (GRCm39) I309T probably benign Het
Wnt6 T C 1: 74,823,755 (GRCm39) L364P probably damaging Het
Zc3h13 T C 14: 75,573,449 (GRCm39) L1530P probably damaging Het
Zfp933 A G 4: 147,911,321 (GRCm39) W60R 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
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
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'- TGAATTTGCAGTTTGTCAAGCC -3'
(R):5'- CCATTACTGAAGCTTGCCTGC -3'

Sequencing Primer
(F):5'- ATGTGTACTTTCACTGAGCCCAGG -3'
(R):5'- TGAAGCTTGCCTGCACTGAC -3'
Posted On 2016-06-21