Incidental Mutation 'R4697:Or4c1'
ID 355749
Institutional Source Beutler Lab
Gene Symbol Or4c1
Ensembl Gene ENSMUSG00000075093
Gene Name olfactory receptor family 4 subfamily C member 1
Synonyms MOR235-2, GA_x6K02T2Q125-50748233-50747292, Olfr1231
MMRRC Submission 041947-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4697 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89132993-89133934 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89133247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 230 (S230C)
Ref Sequence ENSEMBL: ENSMUSP00000150310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099786] [ENSMUST00000216144]
AlphaFold Q7TQZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000099786
AA Change: S230C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097374
Gene: ENSMUSG00000075093
AA Change: S230C

DomainStartEndE-ValueType
Pfam:7tm_4 32 306 7e-43 PFAM
Pfam:7tm_1 42 288 1.3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216144
AA Change: S230C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 96% (75/78)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,615,243 (GRCm39) M1T probably null Het
Aatf T A 11: 84,339,964 (GRCm39) D449V probably damaging Het
Acbd3 T A 1: 180,549,509 (GRCm39) probably benign Het
Bicc1 T A 10: 70,789,314 (GRCm39) I366F possibly damaging Het
Ccdc74a T C 16: 17,467,613 (GRCm39) S184P possibly damaging Het
Cntn4 T C 6: 106,502,446 (GRCm39) V401A probably damaging Het
Cux2 T C 5: 122,011,816 (GRCm39) T540A probably damaging Het
Disp2 G T 2: 118,622,165 (GRCm39) E966* probably null Het
Dpp7 A G 2: 25,244,931 (GRCm39) Y209H probably benign Het
Dstyk T A 1: 132,377,225 (GRCm39) F277Y probably damaging Het
Dtx1 A T 5: 120,832,473 (GRCm39) probably null Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Ednra T C 8: 78,391,624 (GRCm39) H422R probably benign Het
Erlec1 T A 11: 30,902,640 (GRCm39) I67F probably benign Het
Fam161b G A 12: 84,395,332 (GRCm39) probably benign Het
Gata5 A T 2: 179,969,172 (GRCm39) C345* probably null Het
Glmp T C 3: 88,235,581 (GRCm39) V47A probably damaging Het
Gm9762 T A 3: 78,873,857 (GRCm39) noncoding transcript Het
Gnas A T 2: 174,139,873 (GRCm39) D14V probably damaging Het
Gnl3 T C 14: 30,739,286 (GRCm39) S53G probably damaging Het
Grhl3 C T 4: 135,275,777 (GRCm39) V527M probably damaging Het
Hoxd10 T A 2: 74,524,531 (GRCm39) L281* probably null Het
Kif16b T G 2: 142,532,614 (GRCm39) Y1175S probably benign Het
Kif2b A G 11: 91,467,672 (GRCm39) S204P probably benign Het
Klhl40 T A 9: 121,607,800 (GRCm39) I320N probably damaging Het
Ksr2 G A 5: 117,846,212 (GRCm39) R693Q probably damaging Het
Mis12 A G 11: 70,916,152 (GRCm39) K62E possibly damaging Het
Mlc1 A G 15: 88,858,980 (GRCm39) C102R probably damaging Het
Muc5b T C 7: 141,411,098 (GRCm39) I1348T unknown Het
Myh7b A G 2: 155,471,242 (GRCm39) E1130G probably damaging Het
Nat8f4 T C 6: 85,878,368 (GRCm39) T52A probably benign Het
Nxpe2 C A 9: 48,231,821 (GRCm39) V379L probably benign Het
Or10ad1c G A 15: 98,084,749 (GRCm39) R310W probably damaging Het
Or5b111 A T 19: 13,291,081 (GRCm39) D189E probably benign Het
Or5b12 C T 19: 12,897,298 (GRCm39) C125Y probably damaging Het
Pcdhga7 A T 18: 37,850,261 (GRCm39) Y756F probably damaging Het
Pcsk6 T A 7: 65,608,989 (GRCm39) Y284N probably damaging Het
Pdcd11 T C 19: 47,114,786 (GRCm39) V1367A possibly damaging Het
Postn T A 3: 54,282,492 (GRCm39) N484K probably damaging Het
Prkd3 C T 17: 79,268,600 (GRCm39) V572I probably benign Het
Qser1 T C 2: 104,617,528 (GRCm39) S1005G probably benign Het
Radil G T 5: 142,472,556 (GRCm39) D951E probably benign Het
Ripk1 C T 13: 34,211,925 (GRCm39) R352* probably null Het
Sacs T C 14: 61,450,196 (GRCm39) F4081L probably benign Het
Sbf1 A G 15: 89,199,288 (GRCm39) V11A possibly damaging Het
Sgip1 T A 4: 102,791,784 (GRCm39) F536I probably damaging Het
Slc45a1 A G 4: 150,722,741 (GRCm39) L381P probably damaging Het
Smarcad1 C T 6: 65,029,625 (GRCm39) P71L probably benign Het
Spns1 T A 7: 125,976,209 (GRCm39) D14V probably damaging Het
Sv2c T A 13: 96,122,526 (GRCm39) I417F possibly damaging Het
Tas2r113 T A 6: 132,870,479 (GRCm39) M169K probably benign Het
Tgm1 A T 14: 55,943,138 (GRCm39) N567K probably benign Het
Thoc2l A G 5: 104,670,106 (GRCm39) K1543E probably benign Het
Tln2 C T 9: 67,302,743 (GRCm39) R76Q probably damaging Het
Trpm6 T C 19: 18,831,155 (GRCm39) V1340A probably benign Het
Tspan18 A T 2: 93,142,375 (GRCm39) probably null Het
Txndc11 C T 16: 10,902,178 (GRCm39) V679I probably damaging Het
Usf1 G T 1: 171,244,532 (GRCm39) G144V possibly damaging Het
Vmn1r59 T C 7: 5,457,451 (GRCm39) Y103C probably damaging Het
Vmn2r23 A T 6: 123,718,785 (GRCm39) I713F probably damaging Het
Vmn2r79 A T 7: 86,687,168 (GRCm39) I850F probably damaging Het
Vps35l T A 7: 118,390,671 (GRCm39) I455N probably damaging Het
Wdr90 C T 17: 26,074,337 (GRCm39) R676H probably benign Het
Zfp867 G A 11: 59,354,487 (GRCm39) R281W probably damaging Het
Zfp939 T C 7: 39,122,366 (GRCm39) noncoding transcript Het
Other mutations in Or4c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Or4c1 APN 2 89,133,816 (GRCm39) missense possibly damaging 0.90
IGL02189:Or4c1 APN 2 89,133,641 (GRCm39) missense probably damaging 1.00
IGL02354:Or4c1 APN 2 89,133,526 (GRCm39) missense probably benign 0.03
IGL02361:Or4c1 APN 2 89,133,526 (GRCm39) missense probably benign 0.03
PIT4305001:Or4c1 UTSW 2 89,133,727 (GRCm39) missense probably benign 0.05
R0973:Or4c1 UTSW 2 89,133,528 (GRCm39) missense probably damaging 1.00
R0973:Or4c1 UTSW 2 89,133,528 (GRCm39) missense probably damaging 1.00
R0974:Or4c1 UTSW 2 89,133,528 (GRCm39) missense probably damaging 1.00
R2006:Or4c1 UTSW 2 89,133,160 (GRCm39) missense possibly damaging 0.60
R3150:Or4c1 UTSW 2 89,133,562 (GRCm39) missense possibly damaging 0.82
R3177:Or4c1 UTSW 2 89,133,562 (GRCm39) missense possibly damaging 0.82
R3277:Or4c1 UTSW 2 89,133,562 (GRCm39) missense possibly damaging 0.82
R3409:Or4c1 UTSW 2 89,133,717 (GRCm39) missense probably benign
R4208:Or4c1 UTSW 2 89,133,270 (GRCm39) missense probably damaging 1.00
R4412:Or4c1 UTSW 2 89,133,684 (GRCm39) missense probably benign 0.00
R4693:Or4c1 UTSW 2 89,133,621 (GRCm39) missense probably benign 0.07
R4697:Or4c1 UTSW 2 89,133,246 (GRCm39) missense possibly damaging 0.90
R5411:Or4c1 UTSW 2 89,133,920 (GRCm39) missense probably benign
R5992:Or4c1 UTSW 2 89,133,703 (GRCm39) missense possibly damaging 0.50
R6894:Or4c1 UTSW 2 89,133,837 (GRCm39) missense probably damaging 1.00
R8017:Or4c1 UTSW 2 89,133,595 (GRCm39) missense possibly damaging 0.94
R8019:Or4c1 UTSW 2 89,133,595 (GRCm39) missense possibly damaging 0.94
R9274:Or4c1 UTSW 2 89,133,513 (GRCm39) missense probably damaging 0.98
R9457:Or4c1 UTSW 2 89,133,075 (GRCm39) missense probably damaging 1.00
X0064:Or4c1 UTSW 2 89,133,246 (GRCm39) missense possibly damaging 0.72
X0067:Or4c1 UTSW 2 89,133,498 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GCCTCTTCAATAGATTCCTCATAGC -3'
(R):5'- GTGGCCCCAATGTCATTGAC -3'

Sequencing Primer
(F):5'- AATAGATTCCTCATAGCGTTCTTCAC -3'
(R):5'- CAATGTCATTGACCACTTCATGTGTG -3'
Posted On 2015-10-21