Incidental Mutation 'R7299:Reep1'
ID 566857
Institutional Source Beutler Lab
Gene Symbol Reep1
Ensembl Gene ENSMUSG00000052852
Gene Name receptor accessory protein 1
Synonyms D6Ertd253e
MMRRC Submission 045403-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7299 (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 T at 71738373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 44 (I44L)
Ref Sequence ENSEMBL: ENSMUSP00000112662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121469] [ENSMUST00000212631] [ENSMUST00000212792]
AlphaFold Q8BGH4
Predicted Effect probably benign
Transcript: ENSMUST00000121469
AA Change: I44L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000112662
Gene: ENSMUSG00000052852
AA Change: I44L

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
AA Change: I44L

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000212792
AA Change: I44L

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0915 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 99% (71/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A C 3: 121,473,095 (GRCm39) K83N unknown Het
Abca13 A T 11: 9,244,649 (GRCm39) N2171Y probably damaging Het
Abcc8 G A 7: 45,754,922 (GRCm39) T1532I possibly damaging Het
Abtb2 A T 2: 103,532,769 (GRCm39) probably null Het
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Agk A T 6: 40,306,451 (GRCm39) T7S possibly damaging Het
Akap9 C A 5: 4,082,696 (GRCm39) T1940K probably damaging Het
Ccdc8 A G 7: 16,729,956 (GRCm39) T482A unknown Het
Cd2ap G A 17: 43,140,904 (GRCm39) R212* probably null Het
Cenpt G A 8: 106,576,536 (GRCm39) Q45* probably null Het
Cnga1 T C 5: 72,762,775 (GRCm39) I246M probably benign Het
Cnot7 A G 8: 40,960,586 (GRCm39) I74T probably damaging Het
Cog6 T C 3: 52,909,928 (GRCm39) S275G probably benign Het
Csmd2 C A 4: 128,422,055 (GRCm39) D2797E Het
Ddx24 A G 12: 103,385,709 (GRCm39) M298T possibly damaging Het
Eif2b3 T A 4: 116,910,019 (GRCm39) S185T probably benign Het
Ergic2 T A 6: 148,089,610 (GRCm39) Y249F probably damaging Het
Exoc1 T A 5: 76,690,006 (GRCm39) M182K probably damaging Het
Fhdc1 T C 3: 84,351,847 (GRCm39) E1126G probably damaging Het
Gabrr2 T A 4: 33,095,284 (GRCm39) M391K probably benign Het
Gap43 T C 16: 42,112,615 (GRCm39) K49E probably damaging Het
Gata4 T A 14: 63,441,191 (GRCm39) T276S probably damaging Het
Gca C T 2: 62,520,320 (GRCm39) P160L probably benign Het
Ghdc C T 11: 100,658,942 (GRCm39) V397I possibly damaging Het
Gm3409 T A 5: 146,476,357 (GRCm39) D169E probably benign Het
Gtf3c3 G A 1: 54,456,867 (GRCm39) P511L probably benign Het
Hal T C 10: 93,328,423 (GRCm39) V233A probably benign Het
Ighv1-4 T C 12: 114,450,908 (GRCm39) I67V probably benign Het
Itgb8 T C 12: 119,166,196 (GRCm39) N112D probably benign Het
Klhl38 G A 15: 58,186,376 (GRCm39) R118W probably damaging Het
Krtap26-1 T C 16: 88,444,132 (GRCm39) Y163C possibly damaging Het
Kyat1 T C 2: 30,082,007 (GRCm39) D44G probably benign Het
Mob1a G A 6: 83,315,431 (GRCm39) probably null Het
Mst1r G T 9: 107,791,989 (GRCm39) A842S possibly damaging Het
Nhsl1 A G 10: 18,403,419 (GRCm39) probably null Het
Nos1 A T 5: 118,005,970 (GRCm39) D230V possibly damaging Het
Nppb T C 4: 148,070,780 (GRCm39) S52P probably benign Het
Odad2 T C 18: 7,222,635 (GRCm39) K545E probably damaging Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or1s2 G A 19: 13,758,688 (GRCm39) W235* probably null Het
Pcdha3 G A 18: 37,079,977 (GRCm39) E240K possibly damaging Het
Podxl G T 6: 31,501,371 (GRCm39) P395T probably damaging Het
Prr5l T A 2: 101,547,631 (GRCm39) D298V probably damaging Het
Ptpro G A 6: 137,418,142 (GRCm39) probably null Het
Rad9b A G 5: 122,490,677 (GRCm39) V13A possibly damaging Het
Ralgps1 T C 2: 33,047,885 (GRCm39) K365R probably benign Het
Ripor2 T C 13: 24,908,984 (GRCm39) I1034T possibly damaging Het
Rtn4ip1 T C 10: 43,812,016 (GRCm39) Y338H probably damaging Het
Shisa5 G T 9: 108,883,952 (GRCm39) probably benign Het
Snx24 G T 18: 53,473,244 (GRCm39) V63F probably damaging Het
Svep1 G A 4: 58,046,587 (GRCm39) Q3515* probably null Het
Tfap2a T C 13: 40,874,784 (GRCm39) K276E probably damaging Het
Tmem158 C A 9: 123,089,366 (GRCm39) S82I probably damaging Het
Tmem263 T A 10: 84,950,261 (GRCm39) probably null Het
Tmtc3 G T 10: 100,283,336 (GRCm39) H740N not run Het
Tnrc6a A C 7: 122,770,136 (GRCm39) N642T probably benign Het
Top3a A T 11: 60,638,974 (GRCm39) F559I probably damaging Het
Trak1 A G 9: 121,280,929 (GRCm39) probably null Het
Trpc4 T C 3: 54,225,048 (GRCm39) I799T possibly damaging Het
Ttc7 T C 17: 87,653,970 (GRCm39) I549T possibly damaging Het
Tysnd1 C A 10: 61,532,328 (GRCm39) P327T possibly damaging Het
Ulk4 T A 9: 120,974,125 (GRCm39) D969V probably benign Het
Vcan T A 13: 89,853,385 (GRCm39) Y525F probably benign Het
Vmn1r204 G A 13: 22,740,975 (GRCm39) S202N probably damaging Het
Vmn2r107 A G 17: 20,565,878 (GRCm39) I64M probably benign Het
Wrn A G 8: 33,782,746 (GRCm39) F728S probably damaging Het
Zfp280b C G 10: 75,874,537 (GRCm39) Q139E probably damaging Het
Zfp322a C A 13: 23,541,313 (GRCm39) G143V probably damaging Het
Zfp322a C T 13: 23,541,314 (GRCm39) G143S probably benign Het
Zfp418 T A 7: 7,185,827 (GRCm39) C597S possibly damaging Het
Zfp568 A G 7: 29,716,669 (GRCm39) T190A probably benign Het
Zfyve26 A T 12: 79,329,758 (GRCm39) V476D 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
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 2019-06-26