Incidental Mutation 'RF023:Reep1'
ID 603988
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 # RF023 (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) CC to CCCGAC at 71684952 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: 98.7%
Validation Efficiency 96% (24/25)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,818 (GRCm39) probably benign Het
5430401F13Rik AAAAACAGAAAGGAAAAGGTGGCCAG AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,841 (GRCm39) probably benign Het
A030005L19Rik TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG TGGCTGTGGCTGTGG 1: 82,891,117 (GRCm39) probably benign Het
Amot GCAACAGCAAC GC X: 144,233,999 (GRCm39) probably benign Het
Anks1b G A 10: 89,869,087 (GRCm39) G49D probably damaging Het
Arhgef5 T A 6: 43,256,407 (GRCm39) S1172T probably damaging Het
Bltp1 T TTATTATTATTATTAG 3: 37,104,909 (GRCm39) probably benign Het
Cacna2d4 G A 6: 119,245,191 (GRCm39) V300I probably benign Het
Calhm1 GTGGC GTGGCTGTGGCTTTGGC 19: 47,129,712 (GRCm39) probably benign Het
Camk2b T C 11: 5,922,301 (GRCm39) T516A probably damaging Het
Ccdc170 CCA CCAACA 10: 4,511,018 (GRCm39) probably benign Het
Cdhr3 G T 12: 33,110,348 (GRCm39) S312Y probably damaging Het
Cdk1 C T 10: 69,176,328 (GRCm39) G260S possibly damaging Het
Cdsn AG AGACAGGAAGTAGTAGCTCTCAG 17: 35,865,876 (GRCm39) probably benign Het
Cenpp A T 13: 49,803,620 (GRCm39) V88E probably benign Het
Cfap46 TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC TCTTCTCCTTCTCCTTCTCC 7: 139,218,834 (GRCm39) Het
Dnah11 T A 12: 117,918,585 (GRCm39) R3449W probably damaging Het
Dnmt1 AGTTCCTACCTCGTT AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT 9: 20,821,427 (GRCm39) probably null Het
E4f1 AGGC AGGCGGC 17: 24,674,157 (GRCm39) probably benign Het
Efhd2 CCGCCG CCGCCGGCGCCG 4: 141,602,073 (GRCm39) probably benign Het
Entpd2 CTT CTTT 2: 25,290,907 (GRCm39) probably null Het
Ephx2 A G 14: 66,322,378 (GRCm39) probably null Het
Exd2 GCAGCAGCCGCAGCCACAGC GCAGC 12: 80,522,689 (GRCm39) probably benign Het
Gabre GCTC GCTCCGTCTC X: 71,313,660 (GRCm39) probably benign Het
H13 G A 2: 152,511,589 (GRCm39) E30K probably damaging Het
Herc1 G C 9: 66,365,616 (GRCm39) G324R Het
Hsdl2 CAGCCACAGCTGCAG CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG 4: 59,610,644 (GRCm39) probably benign Het
Il2 GCTTGAAG GCTTGAAGCGGGCCTTGAAG 3: 37,179,969 (GRCm39) probably benign Het
Krtap28-10 CAG CAGCCCTAG 1: 83,019,867 (GRCm39) probably null Het
Krtap28-10 ACAGC ACAGCCACGGCCACCGCAGC 1: 83,020,007 (GRCm39) probably benign Het
Krtap4-9 GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG 11: 99,676,217 (GRCm39) probably benign Het
Lce1m TGCTGCC TGCTGCCCCCGCCGCTGCC 3: 92,925,587 (GRCm39) probably benign Het
Lrch1 TGGTGGTG T 14: 75,185,006 (GRCm39) probably null Het
Mgam C T 6: 40,657,642 (GRCm39) T999I probably benign Het
Mrtfa T C 15: 80,900,057 (GRCm39) E740G probably damaging Het
Nek1 A G 8: 61,525,779 (GRCm39) probably null Het
Phactr2 T A 10: 13,121,178 (GRCm39) Q503H probably benign Het
Ptprd T C 4: 76,046,802 (GRCm39) Y241C probably damaging Het
Rad51ap2 T G 12: 11,508,076 (GRCm39) V666G possibly damaging Het
Rfx4 CTCTCTCTCT CTCTCTCTCTCTCTCTCTGTCTCTCTCT 10: 84,694,349 (GRCm39) probably benign Het
Rnf126 AGGACGAGG AG 10: 79,594,977 (GRCm39) probably null Het
Rnpc3 A T 3: 113,413,723 (GRCm39) S240T probably damaging Het
Rtbdn GCAGCG GCAGCGTCAGCG 8: 85,682,795 (GRCm39) probably benign Het
Sec31b G T 19: 44,524,226 (GRCm39) A138D probably damaging Het
Syne1 A T 10: 5,205,482 (GRCm39) W3495R probably damaging Het
Tgoln1 CC CCCGTGGGCTTGCCAGAATTACCTTC 6: 72,593,063 (GRCm39) probably benign Het
Tmtc3 T C 10: 100,313,728 (GRCm39) H48R probably benign Het
Trappc9 CTGCTGCT CTGCTGCTGCTGCTGATGCTGCT 15: 72,673,173 (GRCm39) probably benign Het
Trappc9 T TGCTGCTGCTGCTGCC 15: 72,673,180 (GRCm39) probably benign Het
Vsig2 T A 9: 37,450,559 (GRCm39) probably null Het
Wnk2 T C 13: 49,300,255 (GRCm39) T152A 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
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'- CACACGGTTTCACAAGGAGG -3'
(R):5'- GCTAAATTTAGCGACCGCC -3'

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