Incidental Mutation 'R1102:Or1e1c'
ID 98195
Institutional Source Beutler Lab
Gene Symbol Or1e1c
Ensembl Gene ENSMUSG00000063881
Gene Name olfactory receptor family 1 subfamily E member 1C
Synonyms GA_x6K02T2P1NL-3535075-3536028, MOR135-12, Olfr376
MMRRC Submission 039175-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1102 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 73262072-73266530 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73265700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 45 (V45I)
Ref Sequence ENSEMBL: ENSMUSP00000077977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078952] [ENSMUST00000120401] [ENSMUST00000127789] [ENSMUST00000170592]
AlphaFold E9Q4M1
Predicted Effect probably benign
Transcript: ENSMUST00000078952
AA Change: V45I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000077977
Gene: ENSMUSG00000063881
AA Change: V45I

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 3e-59 PFAM
Pfam:7TM_GPCR_Srsx 41 311 7.4e-8 PFAM
Pfam:7tm_1 47 296 2.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120401
AA Change: V42I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113236
Gene: ENSMUSG00000063881
AA Change: V42I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 308 1.1e-7 PFAM
Pfam:7tm_1 44 293 7.2e-36 PFAM
Pfam:7tm_4 142 286 1.4e-46 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000116228
Gene: ENSMUSG00000072709
AA Change: V42I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 231 7.3e-8 PFAM
Pfam:7tm_1 44 240 2.5e-33 PFAM
Pfam:7tm_4 142 249 4.5e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170592
AA Change: V42I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126073
Gene: ENSMUSG00000063881
AA Change: V42I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 308 1.1e-7 PFAM
Pfam:7tm_1 44 293 7.2e-36 PFAM
Pfam:7tm_4 142 286 1.4e-46 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.8%
Validation Efficiency 98% (60/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik C T 17: 9,211,460 (GRCm39) T203M probably damaging Het
Acy3 C T 19: 4,037,850 (GRCm39) T119I probably damaging Het
Ccdc6 C A 10: 70,023,636 (GRCm39) H400Q possibly damaging Het
Ccna1 T C 3: 54,958,281 (GRCm39) D134G probably damaging Het
Cct2 A T 10: 116,896,545 (GRCm39) probably null Het
Cd36 A G 5: 18,019,211 (GRCm39) F170S possibly damaging Het
Cep350 G A 1: 155,807,264 (GRCm39) P718S probably damaging Het
Cimip1 T A 2: 173,364,516 (GRCm39) D20E probably damaging Het
Ctnna3 A T 10: 64,421,774 (GRCm39) I523L probably benign Het
Dnah1 G T 14: 31,018,414 (GRCm39) Y1405* probably null Het
Dnah8 T A 17: 31,073,738 (GRCm39) probably null Het
Drd3 T C 16: 43,582,846 (GRCm39) L113S probably damaging Het
Emsy T C 7: 98,251,796 (GRCm39) T735A probably damaging Het
Epha5 A G 5: 84,381,434 (GRCm39) probably benign Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fbxo10 A G 4: 45,043,672 (GRCm39) L717P probably damaging Het
Galnt10 T C 11: 57,671,871 (GRCm39) probably benign Het
Gle1 T G 2: 29,834,066 (GRCm39) I437M possibly damaging Het
Gpr137b T C 13: 13,539,616 (GRCm39) probably benign Het
Gsta1 T C 9: 78,149,777 (GRCm39) F197L probably damaging Het
Icam1 G A 9: 20,939,132 (GRCm39) V502M possibly damaging Het
Ido1 T A 8: 25,083,156 (GRCm39) I90F probably damaging Het
Il4ra G A 7: 125,173,889 (GRCm39) probably null Het
Med12l T A 3: 59,152,257 (GRCm39) M1014K probably damaging Het
Mmp13 A G 9: 7,272,952 (GRCm39) E104G possibly damaging Het
Mms19 T C 19: 41,939,284 (GRCm39) E495G possibly damaging Het
Mrc2 A G 11: 105,231,647 (GRCm39) I820V probably benign Het
Naip6 T C 13: 100,440,923 (GRCm39) K286E possibly damaging Het
Ndrg1 T C 15: 66,816,685 (GRCm39) Y110C probably damaging Het
Or4a78 A T 2: 89,497,814 (GRCm39) C139S probably damaging Het
Or5b118 T C 19: 13,448,771 (GRCm39) C146R probably damaging Het
Or5b3 G A 19: 13,388,454 (GRCm39) V174M probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pdzd4 G A X: 72,839,052 (GRCm39) R419C probably damaging Het
Pnpla7 G T 2: 24,886,177 (GRCm39) M3I probably damaging Het
Popdc3 A G 10: 45,192,642 (GRCm39) probably benign Het
Ppp5c A G 7: 16,756,368 (GRCm39) F112S probably benign Het
Rbp3 A G 14: 33,678,313 (GRCm39) T754A possibly damaging Het
Reep6 A G 10: 80,171,080 (GRCm39) T319A probably benign Het
Rfx3 A G 19: 27,845,000 (GRCm39) V43A possibly damaging Het
Rint1 A G 5: 24,010,565 (GRCm39) probably benign Het
Sacm1l T G 9: 123,411,363 (GRCm39) V384G probably damaging Het
Shox2 A T 3: 66,885,628 (GRCm39) L149Q probably damaging Het
Sipa1 T C 19: 5,702,782 (GRCm39) H805R probably benign Het
Skic2 T C 17: 35,059,082 (GRCm39) D1095G probably benign Het
Slc5a3 G T 16: 91,874,765 (GRCm39) W274L probably damaging Het
Spata31e4 A G 13: 50,857,118 (GRCm39) T919A probably benign Het
Sptbn1 G T 11: 30,070,785 (GRCm39) H1524Q possibly damaging Het
Ssr1 G T 13: 38,171,591 (GRCm39) Q149K probably benign Het
Taf7l2 T C 10: 115,949,299 (GRCm39) S76G probably damaging Het
Thsd7a T C 6: 12,555,701 (GRCm39) D61G possibly damaging Het
Tmem245 T C 4: 56,903,200 (GRCm39) probably benign Het
Tmem74 T C 15: 43,730,186 (GRCm39) T286A probably benign Het
Tnc T C 4: 63,938,705 (GRCm39) N45D probably benign Het
Trdmt1 T G 2: 13,528,225 (GRCm39) probably benign Het
Uty A T Y: 1,174,741 (GRCm39) Y220N probably damaging Het
Vdr T C 15: 97,757,002 (GRCm39) Y290C probably damaging Het
Vmn2r19 T A 6: 123,313,132 (GRCm39) M734K probably benign Het
Vmn2r53 T C 7: 12,332,410 (GRCm39) D413G possibly damaging Het
Vps45 A G 3: 95,950,253 (GRCm39) probably benign Het
Other mutations in Or1e1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Or1e1c APN 11 73,265,833 (GRCm39) missense probably benign 0.03
IGL01462:Or1e1c APN 11 73,265,578 (GRCm39) start codon destroyed probably null 0.02
IGL01725:Or1e1c APN 11 73,265,982 (GRCm39) missense probably benign 0.39
IGL02225:Or1e1c APN 11 73,265,904 (GRCm39) missense probably damaging 0.98
R0006:Or1e1c UTSW 11 73,266,414 (GRCm39) missense possibly damaging 0.65
R0090:Or1e1c UTSW 11 73,266,402 (GRCm39) missense probably benign 0.04
R0743:Or1e1c UTSW 11 73,265,715 (GRCm39) missense probably benign 0.03
R0884:Or1e1c UTSW 11 73,265,715 (GRCm39) missense probably benign 0.03
R1582:Or1e1c UTSW 11 73,266,090 (GRCm39) missense probably damaging 1.00
R1765:Or1e1c UTSW 11 73,266,170 (GRCm39) missense probably damaging 1.00
R1929:Or1e1c UTSW 11 73,266,427 (GRCm39) missense probably damaging 1.00
R1941:Or1e1c UTSW 11 73,266,447 (GRCm39) missense probably damaging 1.00
R4738:Or1e1c UTSW 11 73,266,176 (GRCm39) missense possibly damaging 0.94
R4947:Or1e1c UTSW 11 73,266,243 (GRCm39) nonsense probably null
R5837:Or1e1c UTSW 11 73,266,474 (GRCm39) missense probably benign 0.02
R6440:Or1e1c UTSW 11 73,266,173 (GRCm39) missense probably benign 0.06
R6736:Or1e1c UTSW 11 73,266,402 (GRCm39) missense probably benign 0.18
R7254:Or1e1c UTSW 11 73,266,201 (GRCm39) missense probably benign
R7354:Or1e1c UTSW 11 73,266,201 (GRCm39) missense probably benign 0.01
R7437:Or1e1c UTSW 11 73,265,844 (GRCm39) missense probably benign 0.02
R7918:Or1e1c UTSW 11 73,265,923 (GRCm39) missense probably damaging 1.00
R8842:Or1e1c UTSW 11 73,266,186 (GRCm39) missense probably benign
R8985:Or1e1c UTSW 11 73,266,252 (GRCm39) missense possibly damaging 0.89
R9346:Or1e1c UTSW 11 73,266,129 (GRCm39) missense probably benign 0.12
R9416:Or1e1c UTSW 11 73,265,790 (GRCm39) missense probably damaging 0.98
R9683:Or1e1c UTSW 11 73,265,811 (GRCm39) missense probably damaging 0.98
R9789:Or1e1c UTSW 11 73,265,710 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCGATGGGAGTGCAGAGTCAATG -3'
(R):5'- GCAGATAGCCACATAGCGGTCATAG -3'

Sequencing Primer
(F):5'- CAGAGTCAATGGCACTGTTTC -3'
(R):5'- TACATTTGTGCCAGGCAGC -3'
Posted On 2014-01-05