Incidental Mutation 'R0801:Vps26a'
ID 76288
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 038981-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # R0801 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 62291014-62322584 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 62294857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092473] [ENSMUST00000105447] [ENSMUST00000219574]
AlphaFold P40336
Predicted Effect probably benign
Transcript: ENSMUST00000092473
SMART Domains Protein: ENSMUSP00000090130
Gene: ENSMUSG00000020078

DomainStartEndE-ValueType
low complexity region 20 32 N/A INTRINSIC
Pfam:Vps26 40 315 3.7e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105447
SMART Domains Protein: ENSMUSP00000101087
Gene: ENSMUSG00000020078

DomainStartEndE-ValueType
Pfam:Vps26 8 283 2.7e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219574
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.6%
  • 20x: 94.7%
Validation Efficiency 98% (48/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik A G 10: 43,050,987 (GRCm39) K94E possibly damaging Het
Aldh16a1 A T 7: 44,796,900 (GRCm39) C228S probably benign Het
Arnt G T 3: 95,401,157 (GRCm39) R702L possibly damaging Het
Ccdc174 A G 6: 91,872,313 (GRCm39) E314G possibly damaging Het
Ccdc81 T C 7: 89,536,866 (GRCm39) probably null Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Cenpm A T 15: 82,118,667 (GRCm39) I149N probably benign Het
Cfap44 C T 16: 44,242,849 (GRCm39) S751L probably benign Het
Cntrl A G 2: 35,065,107 (GRCm39) probably benign Het
Col1a2 A G 6: 4,531,316 (GRCm39) T762A unknown Het
Crebbp T C 16: 3,906,140 (GRCm39) K1621E probably damaging Het
Cux1 T A 5: 136,355,783 (GRCm39) I374L probably damaging Het
Dgkq A T 5: 108,808,586 (GRCm39) probably null Het
Dis3l T C 9: 64,226,436 (GRCm39) I365V probably benign Het
Dock2 T C 11: 34,599,620 (GRCm39) R320G probably damaging Het
Dst A G 1: 34,209,470 (GRCm39) N853S probably damaging Het
Egf T C 3: 129,496,234 (GRCm39) probably benign Het
Eif2ak2 T A 17: 79,173,778 (GRCm39) R267* probably null Het
Ern2 A G 7: 121,780,085 (GRCm39) probably benign Het
Ero1b A G 13: 12,596,568 (GRCm39) S123G probably benign Het
Fam13a G T 6: 58,960,997 (GRCm39) N118K probably benign Het
Gcn1 T A 5: 115,729,065 (GRCm39) M792K probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf3 C T 7: 44,650,058 (GRCm39) probably benign Het
Map2k5 T A 9: 63,265,261 (GRCm39) probably benign Het
Mcf2l T A 8: 13,064,020 (GRCm39) probably benign Het
Mdga2 A T 12: 66,533,507 (GRCm39) I878K probably damaging Het
Mdn1 T C 4: 32,668,895 (GRCm39) S318P probably benign Het
Or13a19 G A 7: 139,902,831 (GRCm39) C73Y probably damaging Het
Or5aq1b G A 2: 86,902,407 (GRCm39) Q24* probably null Het
Pklr G A 3: 89,052,829 (GRCm39) W527* probably null Het
Pnpla5 T C 15: 83,998,121 (GRCm39) M374V probably benign Het
Ptprn G T 1: 75,228,909 (GRCm39) H835Q probably damaging Het
R3hdm4 A G 10: 79,749,191 (GRCm39) probably benign Het
Rgs8 T A 1: 153,546,557 (GRCm39) C19S probably damaging Het
Smarca4 C A 9: 21,553,850 (GRCm39) Q575K possibly damaging Het
Srgap1 A T 10: 121,643,780 (GRCm39) F612L probably damaging Het
Svil A G 18: 5,099,443 (GRCm39) R1256G probably benign Het
Tox4 T C 14: 52,517,335 (GRCm39) S22P probably benign Het
Ttc39d A G 17: 80,523,644 (GRCm39) Y101C probably damaging Het
Usb1 T C 8: 96,060,168 (GRCm39) probably null Het
Vps13a T C 19: 16,664,020 (GRCm39) probably benign Het
Zfp638 T A 6: 83,949,220 (GRCm39) probably benign Het
Other mutations in Vps26a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0566:Vps26a UTSW 10 62,316,325 (GRCm39) splice site probably benign
R0856:Vps26a UTSW 10 62,304,189 (GRCm39) missense possibly damaging 0.84
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'- ACCCCATTTGCTCAGCACGATAAG -3'
(R):5'- TGAGAGACGTTCCACATGGTCCTG -3'

Sequencing Primer
(F):5'- GATTTATAGAAGGCACTGCCCTAC -3'
(R):5'- GGTCCTGAGAAATTTTATACTGTCTG -3'
Posted On 2013-10-16