Incidental Mutation 'R1941:Or1e1c'
ID 214024
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 039959-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1941 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 73262072-73266530 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73266447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 294 (F294I)
Ref Sequence ENSEMBL: ENSMUSP00000077977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078952] [ENSMUST00000120401] [ENSMUST00000170592]
AlphaFold E9Q4M1
Predicted Effect probably damaging
Transcript: ENSMUST00000078952
AA Change: F294I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077977
Gene: ENSMUSG00000063881
AA Change: F294I

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 damaging
Transcript: ENSMUST00000120401
AA Change: F291I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113236
Gene: ENSMUSG00000063881
AA Change: F291I

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 probably damaging
Transcript: ENSMUST00000170592
AA Change: F291I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126073
Gene: ENSMUSG00000063881
AA Change: F291I

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
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.6%
  • 10x: 94.8%
  • 20x: 91.1%
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
Art2b A C 7: 101,229,524 (GRCm39) F125C probably damaging Het
Camta1 T C 4: 151,159,612 (GRCm39) Y1616C probably damaging Het
Cep162 T G 9: 87,082,048 (GRCm39) I1286L probably benign Het
Chd9 T A 8: 91,703,697 (GRCm39) probably null Het
Col11a2 T A 17: 34,263,925 (GRCm39) S247T probably benign Het
Col6a4 T G 9: 105,952,209 (GRCm39) D563A probably benign Het
Crebbp C T 16: 3,997,555 (GRCm39) M176I probably benign Het
Cyp4a12b A G 4: 115,295,256 (GRCm39) N454S probably damaging Het
Dhx8 T C 11: 101,643,024 (GRCm39) probably null Het
Dock7 G A 4: 98,872,952 (GRCm39) L1165F probably benign Het
Fam117a A T 11: 95,271,624 (GRCm39) N399Y probably damaging Het
Fmn1 A G 2: 113,195,488 (GRCm39) K396R unknown Het
Foxk1 T A 5: 142,442,429 (GRCm39) V693E possibly damaging Het
Gml A G 15: 74,689,020 (GRCm39) L10P probably damaging Het
Gpx8 A G 13: 113,182,809 (GRCm39) L34P probably damaging Het
Kank2 A G 9: 21,684,162 (GRCm39) L689P possibly damaging Het
Mt4 G A 8: 94,864,874 (GRCm39) C16Y possibly damaging Het
Naa15 C A 3: 51,363,355 (GRCm39) Y346* probably null Het
Ntrk3 C T 7: 77,897,010 (GRCm39) V676I probably damaging Het
Oasl2 G A 5: 115,049,423 (GRCm39) probably benign Het
Or6c215 T A 10: 129,638,281 (GRCm39) M38L probably benign Het
Or6c8 T G 10: 128,915,823 (GRCm39) N3T probably damaging Het
Or7e169 G A 9: 19,757,246 (GRCm39) S223F probably damaging Het
Or7g20 A C 9: 18,947,162 (GRCm39) T248P possibly damaging Het
Otud7a C T 7: 63,379,574 (GRCm39) R273* probably null Het
Pcare T G 17: 72,059,063 (GRCm39) T205P probably damaging Het
Pde11a C T 2: 76,121,594 (GRCm39) R329Q probably benign Het
Pga5 G T 19: 10,646,820 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,441,528 (GRCm39) probably null Het
Pus10 A G 11: 23,661,198 (GRCm39) Q262R possibly damaging Het
Rbm17 T C 2: 11,593,885 (GRCm39) K241R possibly damaging Het
Rp1l1 T G 14: 64,259,701 (GRCm39) D114E probably damaging Het
Safb T A 17: 56,905,992 (GRCm39) probably benign Het
Sgpl1 T C 10: 60,939,086 (GRCm39) Y371C probably damaging Het
Siglec1 C A 2: 130,920,051 (GRCm39) A827S possibly damaging Het
Smg5 T A 3: 88,252,687 (GRCm39) S158T possibly damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spaca6 A G 17: 18,058,664 (GRCm39) I71V probably benign Het
Spaca6 A G 17: 18,058,692 (GRCm39) E80G probably damaging Het
Steap1 C A 5: 5,790,541 (GRCm39) A136S probably damaging Het
Supv3l1 G C 10: 62,285,391 (GRCm39) P25R probably benign Het
Tex21 T C 12: 76,268,458 (GRCm39) K108R possibly damaging Het
Tnc A G 4: 63,933,201 (GRCm39) Y688H probably damaging Het
Tnr G A 1: 159,677,704 (GRCm39) E30K possibly damaging Het
Tnrc18 G T 5: 142,800,905 (GRCm39) P18T probably damaging Het
Ttk T G 9: 83,735,179 (GRCm39) S422A probably benign Het
Ubap1 A G 4: 41,378,968 (GRCm39) K61E probably damaging Het
Ubr2 C T 17: 47,284,952 (GRCm39) R522H probably damaging Het
Vwf A T 6: 125,616,242 (GRCm39) E1185D possibly damaging Het
Wwp2 A G 8: 108,244,547 (GRCm39) T194A probably benign Het
Zfp36 A G 7: 28,077,071 (GRCm39) V279A probably damaging Het
Zfp870 C A 17: 33,101,778 (GRCm39) R517L possibly damaging 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
R1102:Or1e1c UTSW 11 73,265,700 (GRCm39) missense probably benign 0.00
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
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'- GAGGCATCCGTAAAGCCTTC -3'
(R):5'- GCAGCTATTCTAGTCATTAGTGC -3'

Sequencing Primer
(F):5'- GTAAAGCCTTCTCCACCTGTG -3'
(R):5'- ATATGTTGAACAACCCTGAA -3'
Posted On 2014-07-14