Incidental Mutation 'R4645:Or4c101'
ID 350154
Institutional Source Beutler Lab
Gene Symbol Or4c101
Ensembl Gene ENSMUSG00000068809
Gene Name olfactory receptor family 4 subfamily C member 101
Synonyms MOR238-2, Olfr1188, GA_x6K02T2Q125-50046879-50047784
MMRRC Submission 041906-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R4645 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 88389795-88390762 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88390722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 292 (I292T)
Ref Sequence ENSEMBL: ENSMUSP00000150850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090701] [ENSMUST00000217131]
AlphaFold A2AV10
Predicted Effect possibly damaging
Transcript: ENSMUST00000090701
AA Change: I303T

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088202
Gene: ENSMUSG00000068809
AA Change: I303T

DomainStartEndE-ValueType
Pfam:7tm_4 36 309 5.9e-49 PFAM
Pfam:7tm_1 46 292 1.5e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217131
AA Change: I292T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (53/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,635,700 (GRCm39) E101G probably damaging Het
Adgrf5 A G 17: 43,748,416 (GRCm39) E29G probably damaging Het
Agfg2 T A 5: 137,682,854 (GRCm39) probably benign Het
Ap4b1 A G 3: 103,728,765 (GRCm39) S468G probably benign Het
AY702103 G T 17: 50,546,941 (GRCm39) noncoding transcript Het
Ccdc14 T C 16: 34,542,110 (GRCm39) L536S probably damaging Het
Ccr9 G T 9: 123,608,658 (GRCm39) M101I probably benign Het
Celsr1 A T 15: 85,800,957 (GRCm39) V2496E probably benign Het
Celsr2 C A 3: 108,303,285 (GRCm39) G2486V probably damaging Het
Cntnap3 A G 13: 64,926,602 (GRCm39) probably null Het
Erlin1 T C 19: 44,057,759 (GRCm39) Y22C probably damaging Het
Fam135b T C 15: 71,334,189 (GRCm39) T1002A probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Glud1 T C 14: 34,033,063 (GRCm39) V70A probably damaging Het
Hdlbp A G 1: 93,349,842 (GRCm39) probably benign Het
Immt T C 6: 71,833,923 (GRCm39) L184P probably damaging Het
Iqsec1 T G 6: 90,644,995 (GRCm39) K983T probably damaging Het
Klhl6 A T 16: 19,765,897 (GRCm39) N568K probably damaging Het
Lbhd1 T G 19: 8,861,452 (GRCm39) probably benign Het
Lrit2 C T 14: 36,794,432 (GRCm39) R499C probably benign Het
Lrp6 T C 6: 134,461,213 (GRCm39) D748G probably damaging Het
Lrriq4 A G 3: 30,704,892 (GRCm39) K292E probably benign Het
Ly96 G T 1: 16,761,940 (GRCm39) E49* probably null Het
Lztr1 C T 16: 17,341,955 (GRCm39) probably benign Het
Mmp12 A G 9: 7,347,515 (GRCm39) M31V probably benign Het
Mok A T 12: 110,774,873 (GRCm39) probably benign Het
Mpi T C 9: 57,458,040 (GRCm39) H54R probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Pomt1 G T 2: 32,132,888 (GRCm39) probably benign Het
Ptpn20 G A 14: 33,353,169 (GRCm39) V303I probably benign Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
Shank2 A G 7: 143,964,159 (GRCm39) K799R possibly damaging Het
Sim1 A T 10: 50,860,093 (GRCm39) T652S probably benign Het
Slc8a2 C T 7: 15,868,164 (GRCm39) T132I probably damaging Het
Spaca6 A T 17: 18,056,307 (GRCm39) probably benign Het
Sympk G T 7: 18,777,385 (GRCm39) R545L possibly damaging Het
Tenm4 G T 7: 96,544,949 (GRCm39) G2322W probably damaging Het
Thap1 A G 8: 26,652,597 (GRCm39) T135A probably damaging Het
Traf3 T C 12: 111,228,400 (GRCm39) V537A probably damaging Het
Ttn T C 2: 76,578,680 (GRCm39) D24071G probably damaging Het
Tysnd1 G T 10: 61,531,962 (GRCm39) V205L probably benign Het
Unc79 T C 12: 103,079,081 (GRCm39) S1749P probably benign Het
Vmn2r50 T A 7: 9,771,162 (GRCm39) *846C probably null Het
Vmn2r74 C T 7: 85,606,317 (GRCm39) S343N probably benign Het
Zfyve28 T G 5: 34,379,787 (GRCm39) probably benign Het
Zmym2 T C 14: 57,165,764 (GRCm39) S696P probably damaging Het
Zscan4e T C 7: 11,041,002 (GRCm39) Y290C possibly damaging Het
Zswim2 G T 2: 83,745,891 (GRCm39) H516N probably benign Het
Other mutations in Or4c101
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01811:Or4c101 APN 2 88,390,409 (GRCm39) missense probably benign 0.02
R1525:Or4c101 UTSW 2 88,389,985 (GRCm39) missense probably damaging 1.00
R1530:Or4c101 UTSW 2 88,389,827 (GRCm39) missense probably benign 0.23
R1703:Or4c101 UTSW 2 88,390,599 (GRCm39) missense possibly damaging 0.56
R1750:Or4c101 UTSW 2 88,390,402 (GRCm39) missense possibly damaging 0.94
R4626:Or4c101 UTSW 2 88,390,176 (GRCm39) missense possibly damaging 0.69
R4934:Or4c101 UTSW 2 88,389,930 (GRCm39) missense probably benign 0.00
R5643:Or4c101 UTSW 2 88,389,849 (GRCm39) start codon destroyed probably null 0.90
R5644:Or4c101 UTSW 2 88,389,849 (GRCm39) start codon destroyed probably null 0.90
R6539:Or4c101 UTSW 2 88,389,864 (GRCm39) missense probably damaging 1.00
R7079:Or4c101 UTSW 2 88,389,853 (GRCm39) missense probably damaging 1.00
R9035:Or4c101 UTSW 2 88,389,863 (GRCm39) missense probably damaging 0.99
R9072:Or4c101 UTSW 2 88,390,658 (GRCm39) missense probably benign
R9073:Or4c101 UTSW 2 88,390,658 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAAAGGCCCTCTCTACCTGTGG -3'
(R):5'- TGCTAATGACTGCACCATACC -3'

Sequencing Primer
(F):5'- GTGGCTCTCACATCACAGTTG -3'
(R):5'- CCATACCATACATAGAAACAGGTTG -3'
Posted On 2015-10-08