Incidental Mutation 'R6619:Reep1'
ID 524274
Institutional Source Beutler Lab
Gene Symbol Reep1
Ensembl Gene ENSMUSG00000052852
Gene Name receptor accessory protein 1
Synonyms D6Ertd253e
MMRRC Submission 044742-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6619 (G1)
Quality Score 158.009
Status Validated
Chromosome 6
Chromosomal Location 71684545-71787694 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 71784826 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 benign
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 noncoding transcript
Transcript: ENSMUST00000205395
Predicted Effect unknown
Transcript: ENSMUST00000212631
AA Change: S138P
Predicted Effect unknown
Transcript: ENSMUST00000212792
AA Change: S279P
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 100% (37/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 G A 16: 29,167,833 (GRCm39) P109S probably benign Het
Baiap2l1 T C 5: 144,222,916 (GRCm39) K106R probably benign Het
Coro6 A G 11: 77,357,030 (GRCm39) I111V possibly damaging Het
Crocc2 A G 1: 93,118,223 (GRCm39) E382G probably benign Het
Dhrs7l A T 12: 72,668,724 (GRCm39) N44K possibly damaging Het
Dnah5 C A 15: 28,409,266 (GRCm39) N3561K probably benign Het
Dsc2 T A 18: 20,165,335 (GRCm39) E879D probably benign Het
Frk A G 10: 34,481,835 (GRCm39) Y375C probably benign Het
Herc2 A T 7: 55,717,840 (GRCm39) R61* probably null Het
Jarid2 A G 13: 45,027,872 (GRCm39) D146G probably damaging Het
Lancl2 C A 6: 57,699,566 (GRCm39) T127K probably damaging Het
Large1 G A 8: 73,609,892 (GRCm39) Q359* probably null Het
Mast2 C A 4: 116,173,694 (GRCm39) E521* probably null Het
Mrc1 T A 2: 14,299,597 (GRCm39) probably null Het
Obi1 T C 14: 104,759,993 (GRCm39) H19R possibly damaging Het
Or4z4 A G 19: 12,076,727 (GRCm39) I92T probably damaging Het
Or5ak23 T C 2: 85,244,425 (GRCm39) N266S probably benign Het
Or6c38 A T 10: 128,929,323 (GRCm39) D173E possibly damaging Het
Or8k38 T C 2: 86,488,406 (GRCm39) Y132C probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
P2ry14 T C 3: 59,023,154 (GRCm39) Y102C probably damaging Het
Pcdhga6 T A 18: 37,842,702 (GRCm39) D807E probably benign Het
Pcdhgb4 T A 18: 37,854,737 (GRCm39) N377K probably damaging Het
Phf13 T A 4: 152,076,114 (GRCm39) N263Y probably damaging Het
Rab19 T A 6: 39,365,060 (GRCm39) S107T probably damaging Het
Rasgrf2 A T 13: 92,165,027 (GRCm39) F380I probably damaging Het
Rpgrip1l C T 8: 91,959,499 (GRCm39) E1134K possibly damaging Het
Serpina3m A T 12: 104,357,766 (GRCm39) Y230F probably benign Het
Skint3 T C 4: 112,111,061 (GRCm39) I62T probably damaging Het
Smg6 T C 11: 74,823,279 (GRCm39) probably null Het
Sp4 G A 12: 118,263,077 (GRCm39) T323I possibly damaging Het
Strc A G 2: 121,198,913 (GRCm39) I1378T probably damaging Het
Tepsin C T 11: 119,986,428 (GRCm39) G128D probably benign Het
Togaram2 A G 17: 71,996,266 (GRCm39) N89D probably damaging Het
Trim36 T C 18: 46,321,475 (GRCm39) T191A probably damaging Het
Trp53bp1 A T 2: 121,077,980 (GRCm39) probably null Het
Zfp418 G A 7: 7,184,895 (GRCm39) C286Y 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
R5657:Reep1 UTSW 6 71,738,358 (GRCm39) missense possibly damaging 0.89
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'- GTGCAACGCTAGAATCTGATTCC -3'
(R):5'- AGACGTAAAGGTCACCCTCC -3'

Sequencing Primer
(F):5'- GCAACGCTAGAATCTGATTCCTGTTG -3'
(R):5'- TTAGCCTCTCCCCAGCAGG -3'
Posted On 2018-06-22