Incidental Mutation 'R3781:Or4c100'
ID 272038
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R3781 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88355845-88356934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88356709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 261 (T261S)
Ref Sequence ENSEMBL: ENSMUSP00000151114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075025] [ENSMUST00000121619] [ENSMUST00000215912] [ENSMUST00000216978]
AlphaFold Q7TR16
Predicted Effect probably benign
Transcript: ENSMUST00000075025
AA Change: T261S

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000074542
Gene: ENSMUSG00000057735
AA Change: T261S

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 2.5e-51 PFAM
Pfam:7tm_1 38 284 4.8e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121619
AA Change: T261S

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000215912
AA Change: T261S

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000216978
AA Change: T261S

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bap1 T C 14: 30,979,575 (GRCm39) I526T possibly damaging Het
Calcr T C 6: 3,700,193 (GRCm39) T263A possibly damaging Het
Cdh20 T A 1: 109,976,734 (GRCm39) V133E probably benign Het
Ddx5 T C 11: 106,675,346 (GRCm39) I330V probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Gnl2 T C 4: 124,931,399 (GRCm39) V110A probably damaging Het
H2-Q10 A G 17: 35,781,915 (GRCm39) Y179C possibly damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Map3k20 A G 2: 72,232,699 (GRCm39) probably benign Het
Mcm7 G A 5: 138,162,998 (GRCm39) R385W probably damaging Het
Mgat4c A G 10: 102,224,782 (GRCm39) E332G probably benign Het
Nudt3 A G 17: 27,799,782 (GRCm39) S134P possibly damaging Het
Or1e26 C A 11: 73,479,839 (GRCm39) G242C probably damaging Het
Or1e26 A T 11: 73,480,194 (GRCm39) Y123* probably null Het
Or4c107 G T 2: 88,789,091 (GRCm39) E94* probably null Het
Or51h7 T C 7: 102,591,278 (GRCm39) I169V probably benign Het
Pcnx1 A G 12: 82,042,892 (GRCm39) T2325A probably benign Het
Plekha6 A G 1: 133,222,393 (GRCm39) E993G probably damaging Het
Psmd4 T A 3: 94,944,039 (GRCm39) Y15F probably benign Het
Rad23b C T 4: 55,382,586 (GRCm39) T263M probably damaging Het
Stpg3 T A 2: 25,103,875 (GRCm39) M154L probably benign Het
Vmn1r45 C A 6: 89,910,799 (GRCm39) R57L probably benign Het
Zfp658 G A 7: 43,223,270 (GRCm39) R515H 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGTGCAATATGTACGGTAAGTTTC -3'
(R):5'- TCACAGGTCCTAGATTATTGTTCC -3'

Sequencing Primer
(F):5'- GTACGGTAAGTTTCATAGTACTGC -3'
(R):5'- AGGTCCTAGATTATTGTTCCTACAC -3'
Posted On 2015-03-25