Incidental Mutation 'R6370:Or4c100'
ID 513455
Institutional Source Beutler Lab
Gene Symbol Or4c100
Ensembl Gene ENSMUSG00000082882
Gene Name olfactory receptor family 4 subfamily C member 100
Synonyms GA_x6K02T2Q125-50012960-50013871, Olfr1186, MOR230-5
MMRRC Submission 044520-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6370 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88355845-88356934 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 88329712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 94 (C94*)
Ref Sequence ENSEMBL: ENSMUSP00000074542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075025]
AlphaFold Q7TR16
Predicted Effect probably null
Transcript: ENSMUST00000075025
AA Change: C94*
SMART Domains Protein: ENSMUSP00000074542
Gene: ENSMUSG00000057735
AA Change: C94*

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 2.5e-51 PFAM
Pfam:7tm_1 38 284 4.8e-19 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 95% (54/57)
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
Asb6 A G 2: 30,717,024 (GRCm39) V67A probably damaging Het
Atic T A 1: 71,617,819 (GRCm39) F590I probably damaging Het
Atxn10 T C 15: 85,277,586 (GRCm39) F351S probably damaging Het
Bcl2l13 A G 6: 120,842,583 (GRCm39) N92S probably benign Het
Carm1 G T 9: 21,498,815 (GRCm39) A518S probably benign Het
Ccar1 C T 10: 62,600,308 (GRCm39) R541H probably damaging Het
Cfhr2 A T 1: 139,750,065 (GRCm39) L96Q probably damaging Het
Chrnb4 A G 9: 54,942,143 (GRCm39) L377S probably benign Het
Clcn3 A G 8: 61,376,058 (GRCm39) Y639H probably damaging Het
Cngb1 C T 8: 95,991,050 (GRCm39) M717I probably benign Het
Ctcf T C 8: 106,390,852 (GRCm39) M153T probably benign Het
Cyp2b19 T C 7: 26,462,783 (GRCm39) S222P probably benign Het
Dixdc1 A T 9: 50,593,523 (GRCm39) probably null Het
Entpd2 G A 2: 25,287,429 (GRCm39) G47S probably damaging Het
Erbb3 A G 10: 128,405,943 (GRCm39) M1158T possibly damaging Het
Faah T C 4: 115,860,253 (GRCm39) D333G probably damaging Het
Foxred2 T A 15: 77,827,506 (GRCm39) T618S probably benign Het
Gm2381 G A 7: 42,470,010 (GRCm39) A38V probably benign Het
Gpx5 A T 13: 21,472,872 (GRCm39) probably null Het
Gtdc1 A G 2: 44,646,334 (GRCm39) V98A probably damaging Het
Hal T C 10: 93,333,368 (GRCm39) I312T probably damaging Het
Krtap21-1 T C 16: 89,200,519 (GRCm39) Y41C unknown Het
Larp6 A G 9: 60,644,646 (GRCm39) E262G probably damaging Het
Lrrn1 A G 6: 107,546,185 (GRCm39) Y661C probably damaging Het
Lsm14a A G 7: 34,056,906 (GRCm39) V244A probably benign Het
Mfrp T C 9: 44,017,558 (GRCm39) C517R probably damaging Het
Mtarc1 T C 1: 184,527,689 (GRCm39) D257G probably damaging Het
Ncoa3 T C 2: 165,907,825 (GRCm39) S1145P probably benign Het
Nosip G T 7: 44,726,164 (GRCm39) probably null Het
Or51f2 A T 7: 102,526,377 (GRCm39) T17S probably benign Het
Or52n1 T C 7: 104,383,124 (GRCm39) K149R probably benign Het
Phykpl T C 11: 51,477,543 (GRCm39) S112P probably damaging Het
Pik3cb A T 9: 98,922,987 (GRCm39) I1015K probably damaging Het
Pomt2 A G 12: 87,155,973 (GRCm39) W818R probably damaging Het
Ptpn21 A T 12: 98,655,293 (GRCm39) M558K possibly damaging Het
Rnf213 T A 11: 119,367,904 (GRCm39) N4647K probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Homo
Rxrg T C 1: 167,462,006 (GRCm39) V227A probably damaging Het
Satb1 A T 17: 52,089,825 (GRCm39) S341T possibly damaging Het
Skint5 T G 4: 113,471,307 (GRCm39) Q983P unknown Het
Slc6a18 G A 13: 73,816,278 (GRCm39) T367I probably benign Het
Slc7a1 A G 5: 148,277,483 (GRCm39) L344P probably damaging Het
Slc7a6 T A 8: 106,922,069 (GRCm39) F399I probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Sugt1 T C 14: 79,847,774 (GRCm39) V208A probably benign Het
Syt3 A G 7: 44,045,107 (GRCm39) K480E probably damaging Het
Thop1 C T 10: 80,913,817 (GRCm39) T186I probably benign Het
Trim55 G A 3: 19,745,650 (GRCm39) E509K possibly damaging Het
Upf2 A G 2: 5,980,821 (GRCm39) N469S unknown Het
Usp24 G T 4: 106,237,718 (GRCm39) K1125N probably null Het
Usp5 A T 6: 124,797,391 (GRCm39) D494E probably benign Het
Vmn2r51 T C 7: 9,832,143 (GRCm39) K481R probably damaging Het
Vps16 C A 2: 130,285,304 (GRCm39) A787D probably damaging Het
Washc4 C T 10: 83,407,226 (GRCm39) H488Y possibly damaging Het
Wdfy4 C A 14: 32,790,807 (GRCm39) A2053S probably benign Het
Zfp74 A T 7: 29,631,835 (GRCm39) D136E probably damaging Het
Other mutations in Or4c100
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Or4c100 APN 2 88,356,104 (GRCm39) missense possibly damaging 0.87
IGL01727:Or4c100 APN 2 88,356,271 (GRCm39) missense probably benign 0.03
IGL01790:Or4c100 APN 2 88,356,767 (GRCm39) missense probably damaging 0.99
IGL01868:Or4c100 APN 2 88,356,059 (GRCm39) missense possibly damaging 0.66
IGL03146:Or4c100 APN 2 88,356,488 (GRCm39) missense possibly damaging 0.90
IGL03378:Or4c100 APN 2 88,356,498 (GRCm39) nonsense probably null
R0053:Or4c100 UTSW 2 88,356,507 (GRCm39) missense probably damaging 1.00
R0829:Or4c100 UTSW 2 88,356,572 (GRCm39) missense probably damaging 1.00
R1210:Or4c100 UTSW 2 88,356,620 (GRCm39) missense possibly damaging 0.89
R1754:Or4c100 UTSW 2 88,356,159 (GRCm39) missense probably damaging 0.99
R2260:Or4c100 UTSW 2 88,356,730 (GRCm39) missense possibly damaging 0.93
R3426:Or4c100 UTSW 2 88,356,208 (GRCm39) missense probably damaging 1.00
R3781:Or4c100 UTSW 2 88,356,709 (GRCm39) missense probably benign 0.23
R4737:Or4c100 UTSW 2 88,356,569 (GRCm39) missense probably damaging 1.00
R4908:Or4c100 UTSW 2 88,356,254 (GRCm39) missense probably damaging 1.00
R4932:Or4c100 UTSW 2 88,356,079 (GRCm39) missense probably benign 0.02
R5071:Or4c100 UTSW 2 88,356,385 (GRCm39) missense probably damaging 1.00
R5831:Or4c100 UTSW 2 88,356,824 (GRCm39) nonsense probably null
R6222:Or4c100 UTSW 2 88,329,614 (GRCm39) missense probably benign 0.34
R6802:Or4c100 UTSW 2 88,355,941 (GRCm39) missense probably benign 0.02
R6931:Or4c100 UTSW 2 88,356,538 (GRCm39) missense possibly damaging 0.50
R7044:Or4c100 UTSW 2 88,356,830 (GRCm39) missense probably benign
R7121:Or4c100 UTSW 2 88,356,170 (GRCm39) missense probably damaging 1.00
R7166:Or4c100 UTSW 2 88,355,990 (GRCm39) missense possibly damaging 0.89
R7387:Or4c100 UTSW 2 88,356,744 (GRCm39) nonsense probably null
R7891:Or4c100 UTSW 2 88,356,289 (GRCm39) missense probably benign 0.04
R7951:Or4c100 UTSW 2 88,356,148 (GRCm39) missense probably damaging 0.98
R7978:Or4c100 UTSW 2 88,356,014 (GRCm39) nonsense probably null
R8016:Or4c100 UTSW 2 88,356,517 (GRCm39) missense probably damaging 0.99
R8039:Or4c100 UTSW 2 88,356,215 (GRCm39) missense probably benign 0.07
R8389:Or4c100 UTSW 2 88,355,931 (GRCm39) start codon destroyed probably null
R9211:Or4c100 UTSW 2 88,356,170 (GRCm39) missense probably benign 0.08
R9279:Or4c100 UTSW 2 88,356,211 (GRCm39) missense probably benign 0.01
R9691:Or4c100 UTSW 2 88,356,421 (GRCm39) missense probably benign 0.39
R9782:Or4c100 UTSW 2 88,356,835 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGGAACTTTCTCATCATGGTGAC -3'
(R):5'- ATCAATAACATTTGGGCCACAG -3'

Sequencing Primer
(F):5'- CCATTAAGATGAGTCAGACACTTGG -3'
(R):5'- CCACAGAATGGTAATCTTAAGGC -3'
Posted On 2018-04-27