Incidental Mutation 'R5657:Reep1'
ID 442377
Institutional Source Beutler Lab
Gene Symbol Reep1
Ensembl Gene ENSMUSG00000052852
Gene Name receptor accessory protein 1
Synonyms D6Ertd253e
MMRRC Submission 043171-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5657 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 71684545-71787694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71738358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 39 (M39V)
Ref Sequence ENSEMBL: ENSMUSP00000148678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121469] [ENSMUST00000212631] [ENSMUST00000212792]
AlphaFold Q8BGH4
Predicted Effect probably benign
Transcript: ENSMUST00000121469
AA Change: M39V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000112662
Gene: ENSMUSG00000052852
AA Change: M39V

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 possibly damaging
Transcript: ENSMUST00000212631
AA Change: M39V

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000212792
AA Change: M39V

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 A G 5: 31,051,390 (GRCm39) Y533C probably damaging Het
Ahnak T C 19: 8,991,979 (GRCm39) V4421A probably damaging Het
Bach1 A G 16: 87,516,173 (GRCm39) K238R probably benign Het
Bloc1s6 T A 2: 122,580,577 (GRCm39) V12D probably benign Het
Clca3b C A 3: 144,533,144 (GRCm39) L629F probably benign Het
Clhc1 A G 11: 29,511,431 (GRCm39) I292V probably benign Het
Col27a1 T C 4: 63,143,547 (GRCm39) S412P probably damaging Het
Col6a4 A G 9: 105,949,397 (GRCm39) I746T probably damaging Het
Cracr2a G A 6: 127,580,970 (GRCm39) A49T probably damaging Het
Cyb561d1 A G 3: 108,108,008 (GRCm39) I28T possibly damaging Het
Dnah11 T A 12: 117,847,352 (GRCm39) M4264L probably damaging Het
Dnajc13 A G 9: 104,105,736 (GRCm39) L412S probably damaging Het
Dpf3 T C 12: 83,371,785 (GRCm39) N150S probably damaging Het
Epha2 T C 4: 141,050,805 (GRCm39) C854R probably damaging Het
Fat2 G T 11: 55,201,507 (GRCm39) Y522* probably null Het
Foxm1 A T 6: 128,350,351 (GRCm39) S551C possibly damaging Het
Galnt12 T C 4: 47,104,150 (GRCm39) V136A possibly damaging Het
Gm6647 T G 5: 13,818,835 (GRCm39) noncoding transcript Het
Grin2b T A 6: 135,710,085 (GRCm39) I1154F possibly damaging Het
Hmcn1 A G 1: 150,534,313 (GRCm39) V2987A probably benign Het
Jade2 A G 11: 51,707,814 (GRCm39) S800P probably damaging Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Or1e33 T C 11: 73,738,366 (GRCm39) N195S probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Plod1 T C 4: 148,003,238 (GRCm39) E529G possibly damaging Het
Plppr2 T C 9: 21,858,911 (GRCm39) C343R probably damaging Het
Prpf38a T C 4: 108,425,621 (GRCm39) D219G probably damaging Het
Ptpra G A 2: 130,346,204 (GRCm39) E122K probably benign Het
Rabl2 T C 15: 89,472,416 (GRCm39) M38V probably benign Het
Rsf1 GC GCGGCGGCGTC 7: 97,229,141 (GRCm39) probably benign Het
Slc26a10 T C 10: 127,010,833 (GRCm39) probably benign Het
Sun2 C A 15: 79,612,150 (GRCm39) E510* probably null Het
Tanc1 A G 2: 59,665,051 (GRCm39) probably null Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tor1aip1 G T 1: 155,883,234 (GRCm39) H205N probably damaging Het
Trpc6 C T 9: 8,609,808 (GRCm39) T92I probably benign Het
Vmn2r100 T A 17: 19,725,178 (GRCm39) F36I probably benign Het
Zfp787 T C 7: 6,136,053 (GRCm39) Y66C 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
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
RF042:Reep1 UTSW 6 71,684,950 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- TGTAAGCTTGCTCTGTCTGC -3'
(R):5'- TCTTAGGGATCTCAAGAGGCTCC -3'

Sequencing Primer
(F):5'- TCTGCGGACCAGCCATTTG -3'
(R):5'- GGATCTCAAGAGGCTCCAGTTAAC -3'
Posted On 2016-11-09