Incidental Mutation 'R3787:Reep1'
ID 272306
Institutional Source Beutler Lab
Gene Symbol Reep1
Ensembl Gene ENSMUSG00000052852
Gene Name receptor accessory protein 1
Synonyms D6Ertd253e
MMRRC Submission 040754-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3787 (G1)
Quality Score 212
Status Not validated
Chromosome 6
Chromosomal Location 71684545-71787694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71772199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 162 (D162E)
Ref Sequence ENSEMBL: ENSMUSP00000148341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121469] [ENSMUST00000212631] [ENSMUST00000212792]
AlphaFold Q8BGH4
Predicted Effect probably damaging
Transcript: ENSMUST00000121469
AA Change: D162E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112662
Gene: ENSMUSG00000052852
AA Change: D162E

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 noncoding transcript
Transcript: ENSMUST00000206120
Predicted Effect probably benign
Transcript: ENSMUST00000212631
AA Change: M84K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably damaging
Transcript: ENSMUST00000212792
AA Change: D162E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik G T 5: 139,441,197 (GRCm39) P35Q probably damaging Het
Aoc1 T C 6: 48,882,589 (GRCm39) L177P probably damaging Het
Aprt T C 8: 123,302,268 (GRCm39) D65G probably benign Het
Auh C A 13: 53,083,493 (GRCm39) R62L possibly damaging Het
Bmp4 C T 14: 46,623,171 (GRCm39) probably null Het
Bptf C A 11: 106,964,653 (GRCm39) D1514Y probably damaging Het
Carmil3 T C 14: 55,734,433 (GRCm39) F418S probably damaging Het
Ccdc112 C T 18: 46,432,365 (GRCm39) R72H probably benign Het
Ccdc138 T C 10: 58,374,092 (GRCm39) Y371H probably damaging Het
Chsy3 T C 18: 59,542,070 (GRCm39) Y403H probably damaging Het
Cul4a T C 8: 13,183,668 (GRCm39) V352A probably damaging Het
Dennd3 T C 15: 73,419,426 (GRCm39) V739A possibly damaging Het
Dmxl1 G A 18: 49,998,189 (GRCm39) S763N probably damaging Het
Dmxl2 T C 9: 54,277,162 (GRCm39) D2893G probably damaging Het
Dnah8 A G 17: 30,974,015 (GRCm39) D2800G probably damaging Het
Dnaja2 C T 8: 86,267,015 (GRCm39) G281R probably damaging Het
Exo1 A G 1: 175,727,035 (GRCm39) T449A probably benign Het
Fancd2 T G 6: 113,542,165 (GRCm39) S770A probably damaging Het
Fmo1 A T 1: 162,657,583 (GRCm39) S519R possibly damaging Het
Fryl T C 5: 73,258,819 (GRCm39) Y655C probably benign Het
Gpt2 G T 8: 86,252,202 (GRCm39) V506L probably benign Het
Heatr1 G T 13: 12,449,341 (GRCm39) L1946F probably damaging Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Magi2 C T 5: 20,670,907 (GRCm39) T580M probably damaging Het
Mcm9 A G 10: 53,492,076 (GRCm39) V415A possibly damaging Het
Mki67 A T 7: 135,302,012 (GRCm39) N1007K possibly damaging Het
Mpped1 A T 15: 83,680,784 (GRCm39) probably benign Het
Mtpap T C 18: 4,380,670 (GRCm39) V116A probably damaging Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Neurod1 T A 2: 79,284,939 (GRCm39) N148I probably damaging Het
Nfs1 A G 2: 155,970,503 (GRCm39) I270T possibly damaging Het
Nr1i3 A G 1: 171,041,994 (GRCm39) D26G probably damaging Het
Nsa2 G T 13: 97,272,042 (GRCm39) Q60K possibly damaging Het
Or13a28 G A 7: 140,217,748 (GRCm39) V45I probably benign Het
Or8g32 T C 9: 39,305,678 (GRCm39) V197A probably benign Het
Pde4dip G T 3: 97,622,868 (GRCm39) P1447Q possibly damaging Het
Plxna2 A G 1: 194,326,242 (GRCm39) T59A probably benign Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp1r12c G A 7: 4,489,583 (GRCm39) A193V probably damaging Het
Pramel48 T A 5: 95,630,756 (GRCm39) L211Q probably damaging Het
Prdm15 G T 16: 97,598,945 (GRCm39) H904Q probably benign Het
Rala T A 13: 18,057,031 (GRCm39) E185V probably benign Het
Rev3l T A 10: 39,722,206 (GRCm39) L2528Q probably damaging Het
Rfc1 A T 5: 65,453,357 (GRCm39) S264T probably benign Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Sipa1l2 C T 8: 126,149,944 (GRCm39) A1602T probably benign Het
Sipa1l2 C A 8: 126,177,122 (GRCm39) C1164F possibly damaging Het
Slc4a1ap T A 5: 31,685,483 (GRCm39) L254I possibly damaging Het
Slc5a3 A G 16: 91,874,816 (GRCm39) N291S possibly damaging Het
Stab2 T A 10: 86,805,141 (GRCm39) D279V possibly damaging Het
Synrg T C 11: 83,892,746 (GRCm39) F613S probably damaging Het
Tekt1 A G 11: 72,235,720 (GRCm39) I376T probably damaging Het
Thbs4 T C 13: 92,909,672 (GRCm39) N375S probably benign Het
Tro G A X: 149,438,048 (GRCm39) T203I possibly damaging Het
Txnl4b C T 8: 110,299,409 (GRCm39) A123V probably damaging Het
Vmn1r63 T A 7: 5,805,751 (GRCm39) M294L probably benign Het
Vmn2r58 C T 7: 41,513,498 (GRCm39) D382N probably benign Het
Wap G A 11: 6,588,550 (GRCm39) Q25* probably null 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
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
RF042:Reep1 UTSW 6 71,684,950 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- TCAACAAGTATACCTGGGACCC -3'
(R):5'- CCTTGTGTGCCATCCAACAC -3'

Sequencing Primer
(F):5'- CAGAGGTAAACCAGGGCTTGTTTC -3'
(R):5'- GTGTGCCATCCAACACTGTGC -3'
Posted On 2015-03-25