Incidental Mutation 'R4837:Or4e1'
ID 374364
Institutional Source Beutler Lab
Gene Symbol Or4e1
Ensembl Gene ENSMUSG00000057564
Gene Name olfactory receptor family 4 subfamily E member 1
Synonyms GA_x6K02T2RJGY-520647-521579, MOR244-4, MOR244-2, Olfr1508, MOR10
MMRRC Submission 042452-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R4837 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 52700178-52704918 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52701103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 121 (M121K)
Ref Sequence ENSEMBL: ENSMUSP00000145649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000205811] [ENSMUST00000206520]
AlphaFold Q9R0K4
Predicted Effect
SMART Domains Protein: ENSMUSP00000107167
Gene: ENSMUSG00000057564
AA Change: M94K

DomainStartEndE-ValueType
Pfam:7tm_4 34 308 3.9e-48 PFAM
Pfam:7TM_GPCR_Srsx 38 305 1.7e-7 PFAM
Pfam:7tm_1 44 290 1.4e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205811
AA Change: M94K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000206520
AA Change: M121K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (75/76)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,846,203 (GRCm39) H618L probably benign Het
Adgrl3 A G 5: 81,914,081 (GRCm39) T1230A probably benign Het
Ahnak2 A G 12: 112,749,359 (GRCm39) S203P probably benign Het
Allc A G 12: 28,609,308 (GRCm39) V244A probably benign Het
Ap3m1 G A 14: 21,087,225 (GRCm39) P157L probably damaging Het
Arhgef2 T G 3: 88,540,250 (GRCm39) I97S probably damaging Het
Btaf1 C A 19: 36,944,185 (GRCm39) T398K probably benign Het
Cabp1 T C 5: 115,311,212 (GRCm39) M158V probably damaging Het
Ccdc162 G A 10: 41,549,863 (GRCm39) P340L probably benign Het
Ccdc168 G A 1: 44,100,594 (GRCm39) T168I possibly damaging Het
Clip4 A G 17: 72,141,217 (GRCm39) K524E probably damaging Het
Cltc A G 11: 86,586,474 (GRCm39) V189A probably benign Het
Cmc2 A G 8: 117,620,879 (GRCm39) F34S probably damaging Het
Ctcfl G T 2: 172,955,449 (GRCm39) T271N probably benign Het
Cyp4f16 T A 17: 32,761,738 (GRCm39) F124I possibly damaging Het
Ddx41 C A 13: 55,679,461 (GRCm39) R479L possibly damaging Het
Dgcr6 C A 16: 17,884,710 (GRCm39) N87K possibly damaging Het
Dll1 A G 17: 15,589,121 (GRCm39) L518P probably damaging Het
Dnaja4 G T 9: 54,617,928 (GRCm39) M263I probably benign Het
Dusp13b T A 14: 21,793,593 (GRCm39) probably benign Het
Fam185a T A 5: 21,685,375 (GRCm39) I357N probably benign Het
Fam186a T C 15: 99,838,678 (GRCm39) Y2522C unknown Het
Fam222a T A 5: 114,732,458 (GRCm39) C4* probably null Het
Filip1 T C 9: 79,726,741 (GRCm39) D626G probably damaging Het
Ghrhr C T 6: 55,365,172 (GRCm39) R389C probably damaging Het
Gstm3 T A 3: 107,871,531 (GRCm39) T217S probably benign Het
Gucy2g T C 19: 55,214,485 (GRCm39) T548A probably benign Het
Hectd3 T A 4: 116,859,794 (GRCm39) C744S probably null Het
Hnrnpl T C 7: 28,516,762 (GRCm39) S184P probably benign Het
Il3 G A 11: 54,158,083 (GRCm39) probably benign Het
Itga5 C T 15: 103,262,511 (GRCm39) G330S probably damaging Het
Kl A G 5: 150,904,312 (GRCm39) T355A possibly damaging Het
Lipk A C 19: 34,009,720 (GRCm39) S208R probably damaging Het
Mrs2 T A 13: 25,183,040 (GRCm39) probably null Het
Mutyh A G 4: 116,674,887 (GRCm39) E372G probably damaging Het
Myh4 C A 11: 67,149,818 (GRCm39) A1821D probably benign Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Nlrp12 T C 7: 3,279,693 (GRCm39) E881G probably damaging Het
Nol9 T C 4: 152,136,552 (GRCm39) probably benign Het
Nwd1 A G 8: 73,383,759 (GRCm39) E52G probably damaging Het
Opn4 A G 14: 34,318,261 (GRCm39) V242A probably damaging Het
Or4k44 T A 2: 111,368,319 (GRCm39) H105L probably damaging Het
Or5m13 A G 2: 85,748,748 (GRCm39) T160A probably benign Het
Or6b1 T G 6: 42,814,783 (GRCm39) probably null Het
Or6b2b A G 1: 92,418,697 (GRCm39) V260A probably benign Het
Paxbp1 G A 16: 90,831,866 (GRCm39) Q341* probably null Het
Pcdh7 T C 5: 57,877,753 (GRCm39) V436A possibly damaging Het
Pcdhb18 G A 18: 37,622,867 (GRCm39) V66M probably damaging Het
Pikfyve A G 1: 65,285,749 (GRCm39) E951G possibly damaging Het
Plcg1 A G 2: 160,592,906 (GRCm39) N179S probably benign Het
Prr11 A C 11: 86,989,517 (GRCm39) S285A probably benign Het
Ranbp17 A G 11: 33,278,451 (GRCm39) S139P probably damaging Het
Rasa4 G A 5: 136,120,664 (GRCm39) probably null Het
Rnf213 G C 11: 119,333,589 (GRCm39) G2934R probably benign Het
Rpap1 A G 2: 119,608,732 (GRCm39) V210A probably benign Het
Rpn1 T A 6: 88,067,187 (GRCm39) N182K probably benign Het
Rps24 C T 14: 24,541,855 (GRCm39) T14I possibly damaging Het
Rrp12 C T 19: 41,865,944 (GRCm39) probably null Het
Rttn T A 18: 89,108,539 (GRCm39) probably null Het
Rufy1 A G 11: 50,292,320 (GRCm39) S490P probably damaging Het
Sec62 T A 3: 30,864,018 (GRCm39) M100K unknown Het
Spata16 A G 3: 26,787,081 (GRCm39) H253R possibly damaging Het
Srcap T C 7: 127,158,134 (GRCm39) probably benign Het
Srrm1 A G 4: 135,072,823 (GRCm39) probably benign Het
Tbcd G A 11: 121,473,611 (GRCm39) probably null Het
Tedc2 C A 17: 24,439,567 (GRCm39) A25S probably damaging Het
Tnr A T 1: 159,512,358 (GRCm39) probably benign Het
Tnxb A C 17: 34,936,981 (GRCm39) D3730A probably damaging Het
Tor2a G A 2: 32,650,609 (GRCm39) G201D probably damaging Het
Tpp1 T C 7: 105,395,856 (GRCm39) T558A probably benign Het
Vmn1r211 G T 13: 23,036,296 (GRCm39) Q124K probably benign Het
Wasf3 T C 5: 146,397,788 (GRCm39) V185A probably benign Het
Zbtb12 A G 17: 35,114,985 (GRCm39) T257A probably benign Het
Other mutations in Or4e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Or4e1 APN 14 52,700,822 (GRCm39) missense probably damaging 0.98
IGL02601:Or4e1 APN 14 52,700,802 (GRCm39) nonsense probably null
IGL02635:Or4e1 APN 14 52,701,251 (GRCm39) missense probably damaging 1.00
R0139:Or4e1 UTSW 14 52,700,669 (GRCm39) missense probably damaging 0.98
R0501:Or4e1 UTSW 14 52,701,383 (GRCm39) start codon destroyed possibly damaging 0.79
R0600:Or4e1 UTSW 14 52,700,966 (GRCm39) missense probably benign 0.00
R0612:Or4e1 UTSW 14 52,701,008 (GRCm39) missense probably benign 0.00
R1691:Or4e1 UTSW 14 52,701,288 (GRCm39) missense possibly damaging 0.95
R4290:Or4e1 UTSW 14 52,701,442 (GRCm39) missense probably damaging 1.00
R4946:Or4e1 UTSW 14 52,700,740 (GRCm39) missense probably damaging 1.00
R5073:Or4e1 UTSW 14 52,701,032 (GRCm39) missense probably damaging 1.00
R5135:Or4e1 UTSW 14 52,701,311 (GRCm39) missense probably benign 0.00
R5384:Or4e1 UTSW 14 52,700,714 (GRCm39) missense probably benign 0.41
R5663:Or4e1 UTSW 14 52,701,052 (GRCm39) missense probably benign 0.12
R5861:Or4e1 UTSW 14 52,700,953 (GRCm39) missense probably damaging 1.00
R6244:Or4e1 UTSW 14 52,701,352 (GRCm39) missense probably damaging 1.00
R7040:Or4e1 UTSW 14 52,700,932 (GRCm39) missense possibly damaging 0.88
R7216:Or4e1 UTSW 14 52,700,945 (GRCm39) missense probably damaging 1.00
R7560:Or4e1 UTSW 14 52,700,851 (GRCm39) missense probably damaging 1.00
R8310:Or4e1 UTSW 14 52,701,280 (GRCm39) missense probably damaging 1.00
R8691:Or4e1 UTSW 14 52,701,358 (GRCm39) missense possibly damaging 0.46
R8942:Or4e1 UTSW 14 52,700,692 (GRCm39) missense probably damaging 0.98
R9185:Or4e1 UTSW 14 52,700,984 (GRCm39) missense probably benign 0.33
R9218:Or4e1 UTSW 14 52,700,788 (GRCm39) missense probably damaging 0.97
R9516:Or4e1 UTSW 14 52,700,873 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GAGGTACATCACAGAAGAAGTTGTC -3'
(R):5'- TCATATATGACCGCCGGCTC -3'

Sequencing Primer
(F):5'- GAAGTTGTCAATCTCATCAGGACC -3'
(R):5'- TATATGACCGCCGGCTCCATAC -3'
Posted On 2016-03-01