Incidental Mutation 'IGL01868:Or4c100'
ID 178600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4c100
Ensembl Gene ENSMUSG00000082882
Gene Name olfactory receptor family 4 subfamily C member 100
Synonyms GA_x6K02T2Q125-50012960-50013871, Olfr1186, MOR230-5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL01868
Quality Score
Status
Chromosome 2
Chromosomal Location 88355845-88356934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88356059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 44 (V44A)
Ref Sequence ENSEMBL: ENSMUSP00000151114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075025] [ENSMUST00000121619] [ENSMUST00000215912] [ENSMUST00000216978]
AlphaFold Q7TR16
Predicted Effect possibly damaging
Transcript: ENSMUST00000075025
AA Change: V44A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074542
Gene: ENSMUSG00000057735
AA Change: V44A

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 2.5e-51 PFAM
Pfam:7tm_1 38 284 4.8e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121619
AA Change: V44A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215912
AA Change: V44A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216978
AA Change: V44A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
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
Afg3l2 G A 18: 67,547,218 (GRCm39) T569M possibly damaging Het
Aldh1l1 A T 6: 90,560,212 (GRCm39) K620* probably null Het
Amdhd2 G T 17: 24,376,504 (GRCm39) T346K probably damaging Het
Arhgap44 T C 11: 64,902,904 (GRCm39) D521G probably damaging Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Ccdc187 C A 2: 26,170,960 (GRCm39) R506L probably benign Het
Cd37 T C 7: 44,885,603 (GRCm39) Q128R probably benign Het
Cdh22 T A 2: 164,999,278 (GRCm39) M185L probably damaging Het
Cib2 A T 9: 54,455,759 (GRCm39) N68K probably damaging Het
Ddx46 C T 13: 55,787,683 (GRCm39) R96* probably null Het
Dnajc13 A T 9: 104,039,944 (GRCm39) H2050Q possibly damaging Het
Drgx C A 14: 32,330,334 (GRCm39) F150L probably damaging Het
Duox1 A G 2: 122,168,888 (GRCm39) H1172R probably benign Het
Eftud2 C T 11: 102,759,953 (GRCm39) V132I probably benign Het
Fcrl5 G A 3: 87,351,014 (GRCm39) D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Kat6a T C 8: 23,416,471 (GRCm39) F660L probably damaging Het
Lipo2 T C 19: 33,708,238 (GRCm39) M259V probably benign Het
Lrrcc1 T A 3: 14,619,417 (GRCm39) L90* probably null Het
Lsm1 G A 8: 26,283,821 (GRCm39) probably null Het
Luzp1 T C 4: 136,270,048 (GRCm39) I757T probably damaging Het
Micall1 A G 15: 78,999,260 (GRCm39) I76V probably benign Het
Mmp21 A T 7: 133,277,643 (GRCm39) D394E probably damaging Het
Mtfr1l T C 4: 134,258,018 (GRCm39) D68G probably null Het
Necab2 A G 8: 120,189,315 (GRCm39) S162G probably benign Het
Or11a4 A T 17: 37,536,043 (GRCm39) Q9L probably benign Het
Or51b17 G A 7: 103,542,583 (GRCm39) R120* probably null Het
Or6n1 C T 1: 173,916,936 (GRCm39) T110I possibly damaging Het
Pde7b A T 10: 20,282,911 (GRCm39) C376* probably null Het
Pira12 G A 7: 3,900,174 (GRCm39) Q143* probably null Het
Plcb2 A G 2: 118,540,071 (GRCm39) L1074P probably damaging Het
Plcb2 G T 2: 118,541,868 (GRCm39) T914N probably benign Het
Prph C A 15: 98,954,224 (GRCm39) D207E probably damaging Het
Rbp4 C A 19: 38,112,968 (GRCm39) R37L probably damaging Het
Ryr3 T C 2: 112,633,503 (GRCm39) probably benign Het
Sardh T G 2: 27,117,159 (GRCm39) Q496P probably benign Het
Serpina1f T A 12: 103,659,704 (GRCm39) N193Y probably benign Het
Slc10a7 G A 8: 79,423,965 (GRCm39) probably null Het
Spg7 T C 8: 123,816,975 (GRCm39) probably null Het
Sphkap T C 1: 83,258,120 (GRCm39) probably null Het
Tas2r121 T A 6: 132,677,235 (GRCm39) I246L probably benign Het
Tbc1d9b T C 11: 50,052,460 (GRCm39) F889S probably damaging Het
Tcp10a T C 17: 7,597,263 (GRCm39) M140T possibly damaging Het
Tctn2 G A 5: 124,754,591 (GRCm39) noncoding transcript Het
Tfap2b G T 1: 19,284,506 (GRCm39) R138L probably damaging Het
Tnrc18 T C 5: 142,757,567 (GRCm39) T985A unknown Het
Treml1 G A 17: 48,673,035 (GRCm39) V211I probably benign Het
Ubr4 C T 4: 139,139,989 (GRCm39) Q1191* probably null Het
Vim G A 2: 13,583,249 (GRCm39) R217H possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r77 A G 7: 86,452,224 (GRCm39) D468G probably benign Het
Vmn2r98 G T 17: 19,286,548 (GRCm39) V349F probably benign Het
Vwa7 A T 17: 35,240,235 (GRCm39) E401V probably null Het
Zfp119b C A 17: 56,246,866 (GRCm39) V75L possibly damaging Het
Zfp287 C T 11: 62,606,083 (GRCm39) E275K probably benign 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
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
R6370:Or4c100 UTSW 2 88,329,712 (GRCm39) nonsense probably null
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
Posted On 2014-05-07