Incidental Mutation 'R0743:Or1e1c'
ID 70794
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 038924-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0743 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 73262072-73266530 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73265715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 47 (I47F)
Ref Sequence ENSEMBL: ENSMUSP00000116228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078952] [ENSMUST00000120401] [ENSMUST00000127789] [ENSMUST00000170592]
AlphaFold E9Q4M1
Predicted Effect probably benign
Transcript: ENSMUST00000078952
AA Change: I50F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000077977
Gene: ENSMUSG00000063881
AA Change: I50F

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: I47F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113236
Gene: ENSMUSG00000063881
AA Change: I47F

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 benign
Transcript: ENSMUST00000127789
AA Change: I47F

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000116228
Gene: ENSMUSG00000072709
AA Change: I47F

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: I47F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000126073
Gene: ENSMUSG00000063881
AA Change: I47F

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: 99.2%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 92.7%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,790,700 (GRCm39) I844N possibly damaging Het
Bend7 A T 2: 4,749,055 (GRCm39) K57N probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cfap91 A G 16: 38,155,996 (GRCm39) F76L probably damaging Het
Csmd2 A T 4: 128,007,469 (GRCm39) T149S probably benign Het
Cyp2a12 T C 7: 26,731,967 (GRCm39) I236T probably benign Het
Dennd2b A G 7: 109,156,552 (GRCm39) L66P probably damaging Het
Dnase1l2 A G 17: 24,660,854 (GRCm39) V170A possibly damaging Het
Dnm2 T A 9: 21,411,561 (GRCm39) Y597N probably damaging Het
Epsti1 A T 14: 78,168,715 (GRCm39) R117S probably damaging Het
Gabarapl2 A T 8: 112,669,137 (GRCm39) I32F probably damaging Het
Glrb T A 3: 80,786,987 (GRCm39) I59F probably damaging Het
Gosr1 A G 11: 76,620,972 (GRCm39) I239T probably benign Het
Kif5b G T 18: 6,209,192 (GRCm39) R857S probably damaging Het
Kmt5a C A 5: 124,585,282 (GRCm39) N44K probably damaging Het
Ksr1 A T 11: 78,912,329 (GRCm39) H675Q possibly damaging Het
Mep1b A G 18: 21,213,515 (GRCm39) D68G possibly damaging Het
Nebl A C 2: 17,415,929 (GRCm39) S327A probably benign Het
Nfat5 G A 8: 108,094,698 (GRCm39) E962K probably damaging Het
Nfatc4 A C 14: 56,064,101 (GRCm39) D126A probably damaging Het
Nmt2 A T 2: 3,315,822 (GRCm39) R271* probably null Het
Nol7 G A 13: 43,554,091 (GRCm39) V133I probably benign Het
Npepps A G 11: 97,096,884 (GRCm39) probably benign Het
Nphp3 GCATCATCATCATCATC GCATCATCATCATC 9: 103,899,967 (GRCm39) probably benign Het
Or51ag1 C T 7: 103,156,069 (GRCm39) W28* probably null Het
Or6c66 T A 10: 129,461,712 (GRCm39) T73S probably benign Het
Or8h10 G A 2: 86,808,843 (GRCm39) T99I probably benign Het
Ovgp1 T A 3: 105,882,248 (GRCm39) L37H probably damaging Het
Padi3 G T 4: 140,513,740 (GRCm39) A646D probably benign Het
Pamr1 A G 2: 102,440,252 (GRCm39) E142G probably damaging Het
Papolg A T 11: 23,820,818 (GRCm39) probably null Het
Pate8 T C 9: 36,492,597 (GRCm39) S103G probably benign Het
Pfkl C T 10: 77,831,077 (GRCm39) probably null Het
Plrg1 T C 3: 82,967,224 (GRCm39) S132P probably benign Het
Pramel23 A T 4: 143,425,134 (GRCm39) I103N probably damaging Het
Prr14l C A 5: 32,988,538 (GRCm39) C319F possibly damaging Het
Prtn3 T A 10: 79,715,511 (GRCm39) M1K probably null Het
Ptpn22 T C 3: 103,809,487 (GRCm39) F700S probably damaging Het
Ptprz1 C T 6: 23,044,366 (GRCm39) Q1273* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ryr2 T C 13: 11,569,415 (GRCm39) D4963G probably damaging Het
Sec16a G A 2: 26,309,734 (GRCm39) L2091F possibly damaging Het
Senp6 C T 9: 80,000,871 (GRCm39) R27C probably damaging Het
Shcbp1 T A 8: 4,814,906 (GRCm39) M191L probably benign Het
Sirt4 T C 5: 115,621,014 (GRCm39) K53E probably benign Het
Slc10a2 A G 8: 5,139,132 (GRCm39) S271P probably damaging Het
Slc35b2 T A 17: 45,877,751 (GRCm39) F293I probably damaging Het
Slc38a10 C T 11: 120,031,469 (GRCm39) V103M probably damaging Het
Stab2 T A 10: 86,723,759 (GRCm39) I1479F probably damaging Het
Synpo2 A G 3: 122,906,355 (GRCm39) V987A probably benign Het
Syt9 A G 7: 107,035,768 (GRCm39) I262V probably damaging Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 54,879,857 (GRCm39) probably benign Het
Tmem39a A T 16: 38,405,764 (GRCm39) I200F probably damaging Het
Ttn G A 2: 76,579,613 (GRCm39) T23760M probably damaging Het
Uqcrc1 C T 9: 108,773,773 (GRCm39) Q22* probably null Het
Wdtc1 A G 4: 133,027,972 (GRCm39) W377R probably damaging Het
Zfp454 A G 11: 50,764,764 (GRCm39) S223P 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
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
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'- GCTTTCAAGGTCTGCAAAAAACAG -3'
Posted On 2013-09-30