Incidental Mutation 'RF042:Reep1'
ID 604868
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 # RF042 (G1)
Quality Score 195.468
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: 99.4%
  • 20x: 98.8%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik AAAGGAAAAGGTGGCCAG AAAGGAAAAGGTGGCCAGCAAAAACAGGAAGGAAAAGGTGGCCAG 6: 131,529,849 (GRCm39) probably benign Het
A030005L19Rik GCTGCTG GCTGCTGTGACTGCTG 1: 82,891,305 (GRCm39) probably benign Het
AI837181 GGC GGCTGC 19: 5,475,245 (GRCm39) probably benign Het
AI837181 CG CGGTG 19: 5,475,265 (GRCm39) probably benign Het
Anapc2 GCGGCGGCGGCGAC GC 2: 25,162,573 (GRCm39) probably benign Het
Cgnl1 AGCG AGCGGCG 9: 71,631,997 (GRCm39) probably benign Het
Cntnap1 TTT TTTTGTT 11: 101,071,131 (GRCm39) probably benign Het
Cul9 TTCTC TTC 17: 46,851,541 (GRCm39) probably null Het
Dnmt1 GGGGCGGAGCACAGTTCCTACCTCGTT GGGGCGGAGCACAGTTCCTACCTCGTTTTGTGGGCGGAGCACAGTTCCTACCTCGTT 9: 20,821,415 (GRCm39) probably null Het
Frem3 GATC GATCATC 8: 81,341,867 (GRCm39) probably benign Het
Gab3 TCT TCTACT X: 74,043,611 (GRCm39) probably benign Het
Gab3 TTC TTCGTC X: 74,043,628 (GRCm39) probably benign Het
Gabre GGCTCC GGCTCCTGCTCC X: 71,313,653 (GRCm39) probably benign Het
Gm8369 TGTG TGTGAGTG 19: 11,489,137 (GRCm39) probably null Het
Gm8369 GTGTGT GTGTGTTTGTGT 19: 11,489,142 (GRCm39) probably benign Het
Gykl1 G A 18: 52,827,488 (GRCm39) R232Q probably benign Het
Igkv12-89 G GCAACGCCAT 6: 68,812,270 (GRCm39) probably benign Het
Iqcf4 TCCTTTTCCTTTTCCTTTT TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTTCCTTTT 9: 106,447,804 (GRCm39) probably benign Het
Kmt2e TTT TTTTCTT 5: 23,683,507 (GRCm39) probably benign Het
Krtap28-10 CCACAG CCACAGACACAG 1: 83,019,846 (GRCm39) probably benign Het
Las1l CTTCCT CTTCCTTTTCCT X: 94,984,226 (GRCm39) probably benign Het
Lca5l GCCCTGGCCCTGGCCCC GCCC 16: 95,960,497 (GRCm39) probably null Het
Lce1m CACTGCTGCTGC CACTGCTGCTGCAACTGCTGCTGC 3: 92,925,446 (GRCm39) probably benign Het
Lypd8 CA CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAATA 11: 58,281,069 (GRCm39) probably benign Het
Mamld1 GCAACA GCAACAACA X: 70,162,418 (GRCm39) probably benign Het
Mamld1 A AGCC X: 70,162,459 (GRCm39) probably benign Het
Map1a T TTGCTCCACCTCCAGCTCCAGCTCCAGCTCC 2: 121,136,768 (GRCm39) probably benign Het
Med12l CAG CAGAAG 3: 59,183,402 (GRCm39) probably benign Het
Med12l GC GCATC 3: 59,183,416 (GRCm39) probably benign Het
Med12l GCAACA GCAACAACA 3: 59,183,377 (GRCm39) probably benign Het
Med12l AGC AGCGGC 3: 59,183,388 (GRCm39) probably benign Het
Morn4 GCAGTGAG GCAGTGAGTCAGTCAGTGAG 19: 42,064,550 (GRCm39) probably null Het
Nusap1 GAGA GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA 2: 119,458,088 (GRCm39) probably null Het
Opa3 GCGGGC GCGGGCGGAGCTGCGGGCGGAGCTGCGGGCGGAGCTACGGGC 7: 18,989,594 (GRCm39) probably benign Het
Pdia4 CTCTTCCTCCT C 6: 47,785,240 (GRCm39) probably null Het
Sbp AAGA AAGACGCTGACAACAGAGA 17: 24,164,358 (GRCm39) probably benign Het
Sfswap CTCGGCCCA CTCGGCCCAGTCGGCCCA 5: 129,646,807 (GRCm39) probably benign Het
Slc39a4 TC TCATCATGATCACCATGGTCACCATGATCACTGTGGCC 15: 76,499,071 (GRCm39) probably benign Het
Srpk2 ATCCT AT 5: 23,730,573 (GRCm39) probably benign Het
Tfeb GCA GCACCA 17: 48,097,022 (GRCm39) probably benign Het
Tgoln1 T TCACCTCCCGTGGGCTTGCCAGAAG 6: 72,593,057 (GRCm39) probably benign Het
Tob1 CACA CACAACA 11: 94,105,277 (GRCm39) probably benign Het
Trappc9 A AGCTGCTGCTGCTGCT 15: 72,673,132 (GRCm39) probably benign Het
Tsen2 GGA GGATGA 6: 115,537,028 (GRCm39) probably benign Het
Zfhx3 GC GCCACAGCAAC 8: 109,682,720 (GRCm39) probably benign Het
Zfhx3 CAGCAGCA CAGCAGCAAAAGCAGCA 8: 109,682,730 (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
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
Predicted Primers PCR Primer
(F):5'- ACCACACGGTTTCACAAGGAG -3'
(R):5'- CTAAATTTAGCGACCGCCGG -3'

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