Incidental Mutation 'R7080:Reep1'
ID 549460
Institutional Source Beutler Lab
Gene Symbol Reep1
Ensembl Gene ENSMUSG00000052852
Gene Name receptor accessory protein 1
Synonyms D6Ertd253e
MMRRC Submission 045174-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7080 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 71684545-71787694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71757749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 116 (D116G)
Ref Sequence ENSEMBL: ENSMUSP00000112662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121469] [ENSMUST00000212631] [ENSMUST00000212792]
AlphaFold Q8BGH4
Predicted Effect possibly damaging
Transcript: ENSMUST00000121469
AA Change: D116G

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112662
Gene: ENSMUSG00000052852
AA Change: D116G

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 benign
Transcript: ENSMUST00000212631
Predicted Effect probably damaging
Transcript: ENSMUST00000212792
AA Change: D116G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 94% (47/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,336,116 (GRCm39) E2162G probably benign Het
Ackr4 A G 9: 103,976,761 (GRCm39) V62A probably damaging Het
Atox1 T A 11: 55,341,365 (GRCm39) K57* probably null Het
Atp6v1e1 G A 6: 120,799,350 (GRCm39) probably benign Het
Bmpr2 T C 1: 59,906,842 (GRCm39) V645A probably benign Het
Brwd1 T C 16: 95,810,730 (GRCm39) T1602A probably benign Het
Cdc42bpg T C 19: 6,365,219 (GRCm39) V692A probably damaging Het
Cdca2 T C 14: 67,935,551 (GRCm39) D388G probably damaging Het
Celsr1 G A 15: 85,816,652 (GRCm39) R1764C possibly damaging Het
Copz2 G T 11: 96,747,538 (GRCm39) V174L probably benign Het
Dnaaf1 T C 8: 120,309,335 (GRCm39) L141P probably damaging Het
Fam170a T A 18: 50,413,740 (GRCm39) probably null Het
Fshr A T 17: 89,404,539 (GRCm39) probably null Het
Gbx1 C T 5: 24,731,298 (GRCm39) A173T probably benign Het
Gm3604 G A 13: 62,518,109 (GRCm39) A83V probably damaging Het
Gpr19 A T 6: 134,847,419 (GRCm39) V88D probably damaging Het
Hnrnpd C T 5: 100,124,392 (GRCm39) probably null Het
Homez T C 14: 55,095,112 (GRCm39) S199G probably benign Het
Kit T C 5: 75,767,941 (GRCm39) I108T probably damaging Het
Lrrc34 A C 3: 30,688,705 (GRCm39) Y199D probably damaging Het
Mapk12 T C 15: 89,017,350 (GRCm39) D208G probably damaging Het
Mon1a A G 9: 107,778,985 (GRCm39) D403G probably damaging Het
Myo1d C T 11: 80,565,460 (GRCm39) E426K probably damaging Het
Nol11 G A 11: 107,070,878 (GRCm39) T307I probably damaging Het
Or10d5 A G 9: 39,861,444 (GRCm39) C208R probably damaging Het
Or52b4 A T 7: 102,184,172 (GRCm39) I73F possibly damaging Het
Or5aq1b A G 2: 86,902,083 (GRCm39) Y132H probably damaging Het
Or6d15 A T 6: 116,559,314 (GRCm39) F198I probably damaging Het
Or8k28 A T 2: 86,285,835 (GRCm39) L260* probably null Het
Pcdhb16 C T 18: 37,611,516 (GRCm39) Q159* probably null Het
Phf19 G A 2: 34,788,724 (GRCm39) probably null Het
Qrfpr C T 3: 36,234,198 (GRCm39) R381H probably benign Het
Rad51ap2 A G 12: 11,506,366 (GRCm39) D96G probably benign Het
Ranbp1 T C 16: 18,063,097 (GRCm39) D93G possibly damaging Het
Rinl T C 7: 28,496,101 (GRCm39) C361R probably damaging Het
Rps6kb1 T C 11: 86,397,666 (GRCm39) D393G probably damaging Het
Slc2a12 T C 10: 22,541,216 (GRCm39) V357A probably benign Het
Spryd3 T C 15: 102,026,627 (GRCm39) D348G probably benign Het
Syne2 G A 12: 76,099,501 (GRCm39) A569T probably benign Het
Tcstv5 T C 13: 120,411,270 (GRCm39) D112G probably benign Het
Thoc6 C T 17: 23,892,503 (GRCm39) R6Q probably null Het
Tyw3 G C 3: 154,299,426 (GRCm39) S94R probably benign Het
Unc13b C T 4: 43,171,926 (GRCm39) T918I unknown Het
Unc80 A T 1: 66,685,680 (GRCm39) H2268L possibly damaging Het
Urod C T 4: 116,849,838 (GRCm39) A187T probably damaging Het
Usp46 G T 5: 74,177,344 (GRCm39) N205K probably benign Het
Wapl T C 14: 34,414,313 (GRCm39) F392L probably benign Het
Zim1 T C 7: 6,680,305 (GRCm39) T453A possibly 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
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
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'- GTGTTTCAGGCCAGTGAGAG -3'
(R):5'- AGGGCTCTGGGAAAGTTCTG -3'

Sequencing Primer
(F):5'- TGAGAGTCACCCACCAGG -3'
(R):5'- CTGGGAAAGTTCTGCTATCACAC -3'
Posted On 2019-05-15