Incidental Mutation 'RF029:Reep1'
ID 604269
Institutional Source Beutler Lab
Gene Symbol Reep1
Ensembl Gene ENSMUSG00000052852
Gene Name receptor accessory protein 1
Synonyms D6Ertd253e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF029 (G1)
Quality Score 217.468
Status Not validated
Chromosome 6
Chromosomal Location 71684545-71787694 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) CGCCA to CGCCAGCCA at 71684950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121469] [ENSMUST00000212631] [ENSMUST00000212792]
AlphaFold Q8BGH4
Predicted Effect probably null
Transcript: ENSMUST00000121469
SMART Domains Protein: ENSMUSP00000112662
Gene: ENSMUSG00000052852

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 null
Transcript: ENSMUST00000212631
Predicted Effect probably null
Transcript: ENSMUST00000212792
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.3%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik GGTGGCCAG GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG 6: 131,529,858 (GRCm39) probably benign Het
Abca17 T TCCCTC 17: 24,506,701 (GRCm39) probably benign Het
Amot GGAGCAGCAA G X: 144,233,984 (GRCm39) probably benign Het
C1s1 CCCATGGCTC CC 6: 124,518,310 (GRCm39) probably null Het
Cacna1a CCA CCAACA 8: 85,365,353 (GRCm39) probably benign Het
Ccdc170 ACC ACCGCC 10: 4,511,026 (GRCm39) probably benign Het
Cyb5r4 CAGA CAGAGACACTGACCAGGGATGTGATAGA 9: 86,922,483 (GRCm39) probably benign Het
Cyb5r4 CCAGGGA CCAGGGATGTGACAGACACACTGCACAGGGA 9: 86,922,495 (GRCm39) probably benign Het
Defb22 GCGGCA GCGGCAGAGCTGGCCTTTGCGGCA 2: 152,327,753 (GRCm39) probably benign Het
Dnmt1 CGGAGCACAGTTCCTACCTCGTT CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT 9: 20,821,419 (GRCm39) probably null Het
Eed C A 7: 89,604,240 (GRCm39) A411S probably benign Het
Exd2 CCACAGC CC 12: 80,522,720 (GRCm39) probably null Het
Fam171b GCAGC GCAGCATCAGC 2: 83,643,236 (GRCm39) probably benign Het
Fbrsl1 GCGTGTGCTGGT GCGTGTGCTGGTTCGTGTGCTGGT 5: 110,526,005 (GRCm39) probably benign Het
Fsip2 TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA TAGATGTGAAACTCTTAGAGGTAAGA 2: 82,824,352 (GRCm39) probably null Het
Gabre GGCTC GGCTCCTGCTC X: 71,313,665 (GRCm39) probably benign Het
Gm47955 G GTTGTGGCTT 1: 82,938,248 (GRCm39) probably benign Het
Gm572 TGGGGGGGGGGGG TGGGGG 4: 148,755,850 (GRCm39) probably null Het
Hic1 CGGGGGGGGGG CGGGGGGG 11: 75,060,268 (GRCm39) probably benign Het
Ifi208 AGATG AG 1: 173,505,262 (GRCm39) probably benign Het
Il2 GTGG GTGGGGCTTGAACTGG 3: 37,179,976 (GRCm39) probably benign Het
Irag2 TG TGAGCACATGG 6: 145,119,516 (GRCm39) probably benign Het
Krtap28-10 CACAGCCACAGCCAC CACAGCCACAGCCACAACAGCCACAGCCAC 1: 83,019,991 (GRCm39) probably benign Het
Lkaaear1 GCTCCAGCTCCAGCTCCAGCTCCA GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA 2: 181,339,372 (GRCm39) probably benign Het
Lkaaear1 CCAGCTCCAGCT CCAGCTCCAGCTACAGCTCCAGCT 2: 181,339,381 (GRCm39) probably benign Het
Nusap1 TGAGGAGCAAGCTGAGA TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA 2: 119,458,075 (GRCm39) probably benign Het
Nusap1 CTGAGA CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA 2: 119,458,086 (GRCm39) probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pnma8a CAACATC CAACATCTCATGATGCACCTGCTTAAACATC 7: 16,695,369 (GRCm39) probably null Het
Polr1has CG CCACCACCACCACCCCCCCCAGG 17: 37,275,963 (GRCm39) probably benign Het
Rasa2 CGC CGCAGC 9: 96,513,520 (GRCm39) probably benign Het
Rbm12 TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC 2: 155,938,015 (GRCm39) probably benign Het
Tcof1 CAG CAGAAG 18: 60,968,807 (GRCm39) probably benign Het
Tcof1 AGC AGCGGC 18: 60,968,817 (GRCm39) probably benign Het
Trappc9 GCTGCTGCT GCTGCTGCTGCTGCTTCTGCTGCT 15: 72,673,172 (GRCm39) probably benign Het
Zfhx3 CAGCAACAG CAGCAACAGAAGCAACAG 8: 109,682,724 (GRCm39) probably benign 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
R6659:Reep1 UTSW 6 71,750,179 (GRCm39) missense probably damaging 1.00
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
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'- CACCACACGGTTTCACAAGGAG -3'
(R):5'- CTAAATTTAGCGACCGCCGG -3'

Sequencing Primer
(F):5'- CTGGGACGATCGGAGCAG -3'
(R):5'- CCGGGTATTAATAGCTAGCGACC -3'
Posted On 2019-12-04