Incidental Mutation 'R6659:Reep1'
ID 526758
Institutional Source Beutler Lab
Gene Symbol Reep1
Ensembl Gene ENSMUSG00000052852
Gene Name receptor accessory protein 1
Synonyms D6Ertd253e
MMRRC Submission 044779-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6659 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 71684545-71787694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71750179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 64 (F64I)
Ref Sequence ENSEMBL: ENSMUSP00000112662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121469] [ENSMUST00000212631] [ENSMUST00000212792]
AlphaFold Q8BGH4
Predicted Effect probably damaging
Transcript: ENSMUST00000121469
AA Change: F64I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112662
Gene: ENSMUSG00000052852
AA Change: F64I

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 7 95 1.1e-35 PFAM
low complexity region 128 137 N/A INTRINSIC
low complexity region 160 180 N/A INTRINSIC
low complexity region 188 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212631
Predicted Effect probably damaging
Transcript: ENSMUST00000212792
AA Change: F64I

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spastic paraplegia in aged mice with reduced ER complexity in cortical motor neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,950,133 (GRCm39) D212G probably damaging Het
Add1 C T 5: 34,770,639 (GRCm39) A250V possibly damaging Het
Atxn2 A G 5: 121,916,027 (GRCm39) N411S probably benign Het
AW551984 T C 9: 39,500,395 (GRCm39) T788A probably benign Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Ddx46 A G 13: 55,817,537 (GRCm39) T721A probably damaging Het
Eif2b1 G A 5: 124,717,171 (GRCm39) probably benign Het
Eif4g3 A G 4: 137,905,243 (GRCm39) K1241E probably damaging Het
Engase T A 11: 118,372,142 (GRCm39) Y145N probably benign Het
Fbrs C A 7: 127,087,091 (GRCm39) A674D probably damaging Het
Gm4884 G A 7: 40,694,046 (GRCm39) G672R probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Iars2 T A 1: 185,020,273 (GRCm39) I954F possibly damaging Het
Itgad A T 7: 127,785,120 (GRCm39) I310F probably damaging Het
Kcnmb3 A G 3: 32,526,594 (GRCm39) V199A possibly damaging Het
Kctd12 G T 14: 103,219,622 (GRCm39) D85E probably damaging Het
Lama1 G A 17: 68,125,630 (GRCm39) R2929H probably damaging Het
Lgmn T A 12: 102,368,951 (GRCm39) Y176F probably benign Het
Lipo3 A G 19: 33,533,828 (GRCm39) F335L possibly damaging Het
Map2k3 T C 11: 60,833,150 (GRCm39) S46P probably benign Het
Megf8 C A 7: 25,058,159 (GRCm39) H2144Q probably benign Het
Neb A T 2: 52,124,365 (GRCm39) W3694R probably damaging Het
Nek10 A G 14: 14,861,684 (GRCm38) E580G probably benign Het
Obscn G A 11: 58,929,835 (GRCm39) P5930S probably damaging Het
Palld A G 8: 61,986,477 (GRCm39) F621L probably benign Het
Pkn2 A T 3: 142,509,348 (GRCm39) I732N probably damaging Het
Plpbp T A 8: 27,542,307 (GRCm39) I214N possibly damaging Het
Ppp1r37 A G 7: 19,266,048 (GRCm39) S573P probably benign Het
Prg4 C A 1: 150,336,432 (GRCm39) C97F probably damaging Het
Prmt2 T C 10: 76,053,208 (GRCm39) D269G possibly damaging Het
Ptbp3 T A 4: 59,517,640 (GRCm39) L80F probably damaging Het
Srcap C A 7: 127,141,563 (GRCm39) P1720Q probably damaging Het
Ssr1 A T 13: 38,171,666 (GRCm39) F124I probably damaging Het
Tbx18 A G 9: 87,589,864 (GRCm39) L358P probably damaging Het
Tfpt T C 7: 3,623,835 (GRCm39) K71E probably benign Het
Tmem132a C A 19: 10,837,685 (GRCm39) G542C probably damaging Het
Tmem135 C A 7: 88,956,371 (GRCm39) L81F probably benign Het
Tmem135 A T 7: 88,956,372 (GRCm39) L81* probably null Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Washc5 A G 15: 59,212,739 (GRCm39) probably null Het
Zfp24 T C 18: 24,150,391 (GRCm39) E173G possibly damaging Het
Zgrf1 T C 3: 127,410,155 (GRCm39) I1814T probably damaging Het
Other mutations in Reep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01705:Reep1 APN 6 71,750,272 (GRCm39) missense probably damaging 1.00
IGL03057:Reep1 APN 6 71,784,765 (GRCm39) splice site probably benign
R1596:Reep1 UTSW 6 71,733,421 (GRCm39) critical splice donor site probably null
R1899:Reep1 UTSW 6 71,757,781 (GRCm39) missense probably benign 0.32
R2201:Reep1 UTSW 6 71,750,278 (GRCm39) missense probably damaging 1.00
R2252:Reep1 UTSW 6 71,733,426 (GRCm39) splice site probably null
R3787:Reep1 UTSW 6 71,772,199 (GRCm39) missense probably damaging 0.98
R4760:Reep1 UTSW 6 71,684,985 (GRCm39) missense possibly damaging 0.67
R5657:Reep1 UTSW 6 71,738,358 (GRCm39) missense possibly damaging 0.89
R6619:Reep1 UTSW 6 71,784,826 (GRCm39) utr 3 prime probably benign
R7080:Reep1 UTSW 6 71,757,749 (GRCm39) missense possibly damaging 0.81
R7299:Reep1 UTSW 6 71,738,373 (GRCm39) missense probably benign 0.02
R7730:Reep1 UTSW 6 71,757,725 (GRCm39) missense possibly damaging 0.64
R9333:Reep1 UTSW 6 71,772,198 (GRCm39) missense probably damaging 0.99
R9486:Reep1 UTSW 6 71,684,969 (GRCm39) missense probably benign 0.00
RF019:Reep1 UTSW 6 71,684,953 (GRCm39) start codon destroyed probably null
RF023:Reep1 UTSW 6 71,684,952 (GRCm39) start codon destroyed probably null
RF029:Reep1 UTSW 6 71,684,950 (GRCm39) start codon destroyed probably null
RF032:Reep1 UTSW 6 71,684,952 (GRCm39) start codon destroyed probably null
RF042:Reep1 UTSW 6 71,684,950 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- TCAAAACGAAACACGAGTTGGC -3'
(R):5'- CAACCCTTTCTACACAGGGC -3'

Sequencing Primer
(F):5'- CGAAACACGAGTTGGCTTTTAG -3'
(R):5'- GCTAGAAGCAGCATCAGT -3'
Posted On 2018-07-23