Incidental Mutation 'R1525:Or4c101'
ID 167762
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 040872-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R1525 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88389795-88390762 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 88389985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 57 (S57R)
Ref Sequence ENSEMBL: ENSMUSP00000088202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090701] [ENSMUST00000217131]
AlphaFold A2AV10
Predicted Effect probably damaging
Transcript: ENSMUST00000090701
AA Change: S57R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088202
Gene: ENSMUSG00000068809
AA Change: S57R

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: S46R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,252,062 (GRCm39) H840Q probably benign Het
Amotl2 C T 9: 102,605,767 (GRCm39) R540C probably damaging Het
Brpf1 A G 6: 113,294,115 (GRCm39) E605G probably damaging Het
Cacna2d3 T C 14: 28,694,199 (GRCm39) I865V probably benign Het
Cdh24 A T 14: 54,876,046 (GRCm39) F199I probably damaging Het
Cdk9 A G 2: 32,600,521 (GRCm39) V27A probably damaging Het
Cfap69 G T 5: 5,690,230 (GRCm39) probably null Het
Cyp2d11 G T 15: 82,273,498 (GRCm39) L458I probably damaging Het
Dchs1 T C 7: 105,408,138 (GRCm39) E1898G probably damaging Het
Dennd4b G T 3: 90,178,177 (GRCm39) L456F probably damaging Het
Dgat1 T C 15: 76,395,786 (GRCm39) T66A probably benign Het
Dock10 C A 1: 80,583,881 (GRCm39) probably null Het
Fam110b A G 4: 5,799,578 (GRCm39) D332G possibly damaging Het
Fem1al A C 11: 29,773,994 (GRCm39) Y488D probably benign Het
Frmd4b G A 6: 97,273,347 (GRCm39) P628S probably damaging Het
Ice1 A T 13: 70,753,529 (GRCm39) H852Q probably benign Het
Il17ra T C 6: 120,450,751 (GRCm39) V116A probably damaging Het
Ints9 T C 14: 65,232,460 (GRCm39) I173T probably benign Het
Kctd14 A T 7: 97,107,074 (GRCm39) M110L probably benign Het
Krt6a T G 15: 101,602,637 (GRCm39) Y16S probably benign Het
Lamc2 T C 1: 153,006,502 (GRCm39) N883S probably benign Het
Larp4b C T 13: 9,195,486 (GRCm39) T195M probably damaging Het
Lrp1 A G 10: 127,375,398 (GRCm39) L4432P probably damaging Het
Mei4 T C 9: 81,772,252 (GRCm39) S22P probably damaging Het
Mep1a T C 17: 43,802,527 (GRCm39) Q166R probably damaging Het
Mroh2b C A 15: 4,980,612 (GRCm39) probably null Het
Myoc T G 1: 162,476,220 (GRCm39) L308R probably damaging Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Or1j21 A T 2: 36,684,155 (GRCm39) R302S probably null Het
Or2t6 T A 14: 14,175,725 (GRCm38) Y119F probably damaging Het
Pdilt T A 7: 119,087,217 (GRCm39) T478S probably damaging Het
Pias1 T C 9: 62,827,769 (GRCm39) K222E probably damaging Het
Prss16 A C 13: 22,193,613 (GRCm39) L61V possibly damaging Het
Pttg1ip2 C A 5: 5,502,019 (GRCm39) W144C probably benign Het
Pvr G A 7: 19,644,551 (GRCm39) Q328* probably null Het
Ranbp3 A G 17: 57,017,865 (GRCm39) D481G possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,115 (GRCm39) probably benign Het
Ryr3 G T 2: 112,508,435 (GRCm39) D3419E probably damaging Het
Scn1a C T 2: 66,149,806 (GRCm39) W946* probably null Het
Sh3pxd2a T C 19: 47,266,864 (GRCm39) K242E probably damaging Het
Slc34a2 A G 5: 53,226,848 (GRCm39) D657G probably benign Het
Stard9 T A 2: 120,532,533 (GRCm39) I2930K probably benign Het
Syna T C 5: 134,588,112 (GRCm39) D279G probably benign Het
Tfr2 T C 5: 137,577,292 (GRCm39) F415L probably benign Het
Tmem97 T A 11: 78,433,586 (GRCm39) Y103F probably damaging Het
Tmem97 A T 11: 78,433,587 (GRCm39) Y103N probably damaging Het
Txndc2 T A 17: 65,945,310 (GRCm39) D289V probably damaging Het
Zbtb1 T G 12: 76,433,206 (GRCm39) D397E probably benign Het
Zc3h18 T C 8: 123,140,677 (GRCm39) S847P probably benign Het
Zfp382 G A 7: 29,833,144 (GRCm39) G265E probably damaging Het
Zfp410 T C 12: 84,369,740 (GRCm39) L39S probably damaging Het
Zfp729a G T 13: 67,767,440 (GRCm39) P930T probably benign Het
Other mutations in Or4c101
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01811:Or4c101 APN 2 88,390,409 (GRCm39) missense probably benign 0.02
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
R4645:Or4c101 UTSW 2 88,390,722 (GRCm39) missense probably damaging 0.98
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'- TGCCCAACAGCATTCAACTGAGAG -3'
(R):5'- TCATCCTGGAGGCATAGTGCAGAG -3'

Sequencing Primer
(F):5'- CAACAGCATTCAACTGAGAGAAAAG -3'
(R):5'- TAGCGGTCATAGGCCATAAC -3'
Posted On 2014-04-13