Incidental Mutation 'R0856:Vps26a'
ID 82726
Institutional Source Beutler Lab
Gene Symbol Vps26a
Ensembl Gene ENSMUSG00000020078
Gene Name VPS26 retromer complex component A
Synonyms HB58, Vps26, H beta 58
MMRRC Submission 039035-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # R0856 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62291014-62322584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 62304189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 176 (V176G)
Ref Sequence ENSEMBL: ENSMUSP00000090130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092473] [ENSMUST00000105447] [ENSMUST00000217868] [ENSMUST00000219574]
AlphaFold P40336
PDB Structure Structure of mouse VPS26A bound to rat SNX27 PDZ domain [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000092473
AA Change: V176G

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090130
Gene: ENSMUSG00000020078
AA Change: V176G

DomainStartEndE-ValueType
low complexity region 20 32 N/A INTRINSIC
Pfam:Vps26 40 315 3.7e-137 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105447
AA Change: V144G

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101087
Gene: ENSMUSG00000020078
AA Change: V144G

DomainStartEndE-ValueType
Pfam:Vps26 8 283 2.7e-137 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000217868
AA Change: V94G

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000219574
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null mutation induced by transgene insertion exhibit retarded growth of the embryonic ectoderm beginning at embryonic day 7.5 and often, defects of the amnion and chorion. Mutant embryos arrest about day 9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,154,262 (GRCm39) S101R probably benign Het
Arhgap32 C A 9: 32,171,516 (GRCm39) P1432Q probably damaging Het
Atp7b A G 8: 22,487,647 (GRCm39) V1134A probably damaging Het
Crtc3 A T 7: 80,245,372 (GRCm39) Y418N probably damaging Het
Cts8 A T 13: 61,398,730 (GRCm39) Y259N probably damaging Het
Defb39 T A 8: 19,102,982 (GRCm39) T38S possibly damaging Het
Depdc7 A G 2: 104,558,437 (GRCm39) S195P probably benign Het
Gykl1 T A 18: 52,828,441 (GRCm39) *550K probably null Het
Kcnip4 A G 5: 48,576,552 (GRCm39) probably null Het
Kif20a T C 18: 34,764,271 (GRCm39) S666P probably benign Het
Klhl32 T C 4: 24,682,092 (GRCm39) D197G probably damaging Het
Men1 A G 19: 6,385,888 (GRCm39) Y133C probably damaging Het
Mtnr1a A G 8: 45,540,870 (GRCm39) E277G possibly damaging Het
Numa1 C A 7: 101,648,155 (GRCm39) Q629K probably damaging Het
Or2a52 T C 6: 43,144,345 (GRCm39) S118P probably damaging Het
P3h3 G T 6: 124,831,896 (GRCm39) D296E probably benign Het
Prl7c1 A G 13: 27,957,717 (GRCm39) I241T possibly damaging Het
Prr35 T C 17: 26,167,001 (GRCm39) S179G probably benign Het
Rp1 T C 1: 4,414,878 (GRCm39) E2078G probably benign Het
Septin8 A G 11: 53,428,697 (GRCm39) H414R probably benign Het
Tbx20 A G 9: 24,636,908 (GRCm39) M393T probably benign Het
Upf2 A G 2: 5,962,463 (GRCm39) D55G unknown Het
Vit G T 17: 78,927,086 (GRCm39) V344L possibly damaging Het
Other mutations in Vps26a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0566:Vps26a UTSW 10 62,316,325 (GRCm39) splice site probably benign
R0801:Vps26a UTSW 10 62,294,857 (GRCm39) splice site probably benign
R1563:Vps26a UTSW 10 62,300,459 (GRCm39) missense probably benign 0.18
R1785:Vps26a UTSW 10 62,304,176 (GRCm39) missense probably benign 0.01
R1833:Vps26a UTSW 10 62,294,825 (GRCm39) missense probably benign 0.00
R2173:Vps26a UTSW 10 62,304,171 (GRCm39) missense probably damaging 1.00
R4516:Vps26a UTSW 10 62,304,124 (GRCm39) missense probably damaging 1.00
R5339:Vps26a UTSW 10 62,294,746 (GRCm39) missense probably damaging 1.00
R5391:Vps26a UTSW 10 62,292,526 (GRCm39) makesense probably null
R5646:Vps26a UTSW 10 62,304,077 (GRCm39) missense probably damaging 1.00
R6154:Vps26a UTSW 10 62,304,119 (GRCm39) missense probably damaging 1.00
R8995:Vps26a UTSW 10 62,300,458 (GRCm39) missense probably damaging 1.00
R9468:Vps26a UTSW 10 62,300,516 (GRCm39) missense probably damaging 1.00
R9645:Vps26a UTSW 10 62,305,791 (GRCm39) missense probably benign 0.12
R9762:Vps26a UTSW 10 62,316,433 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- GTCACAGGGACACAGAAGTGACCATC -3'
(R):5'- CACATGCTTAGACTGCAAAGGCCG -3'

Sequencing Primer
(F):5'- TTGACATCAGGATAGGTGGC -3'
(R):5'- ggattcactctctagtacAGAGC -3'
Posted On 2013-11-08