Incidental Mutation 'R5391:Vps26a'
ID 425861
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 042963-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # R5391 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62291014-62322584 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 62292526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 328 (*328Q)
Ref Sequence ENSEMBL: ENSMUSP00000101087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092473] [ENSMUST00000105447] [ENSMUST00000219574]
AlphaFold P40336
Predicted Effect probably null
Transcript: ENSMUST00000092473
AA Change: *360Q
SMART Domains Protein: ENSMUSP00000090130
Gene: ENSMUSG00000020078
AA Change: *360Q

DomainStartEndE-ValueType
low complexity region 20 32 N/A INTRINSIC
Pfam:Vps26 40 315 3.7e-137 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105447
AA Change: *328Q
SMART Domains Protein: ENSMUSP00000101087
Gene: ENSMUSG00000020078
AA Change: *328Q

DomainStartEndE-ValueType
Pfam:Vps26 8 283 2.7e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219574
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,855,481 (GRCm39) M38I probably null Het
Actl7a A G 4: 56,743,661 (GRCm39) T63A probably benign Het
Amfr G A 8: 94,702,676 (GRCm39) P497S probably damaging Het
Ankrd33b T C 15: 31,325,352 (GRCm39) I122V probably damaging Het
Asap1 G T 15: 63,965,901 (GRCm39) T1011K possibly damaging Het
Cbfa2t3 G A 8: 123,360,134 (GRCm39) R506* probably null Het
Ccs C G 19: 4,883,510 (GRCm39) C96S probably benign Het
Cpt1a A G 19: 3,399,260 (GRCm39) D20G probably damaging Het
Ctdspl2 G A 2: 121,834,629 (GRCm39) probably null Het
Dhx57 T C 17: 80,582,510 (GRCm39) Y365C probably damaging Het
Dnah3 C T 7: 119,689,299 (GRCm39) M38I probably benign Het
Dnajc6 T C 4: 101,485,355 (GRCm39) probably null Het
Elac2 A G 11: 64,885,120 (GRCm39) S450G probably benign Het
Gdf9 T C 11: 53,324,624 (GRCm39) V131A probably benign Het
Il12rb2 T C 6: 67,269,404 (GRCm39) N803S probably benign Het
Itgb4 T A 11: 115,875,894 (GRCm39) M477K probably benign Het
Itgb8 A C 12: 119,134,476 (GRCm39) C530W probably damaging Het
Krt78 C A 15: 101,860,263 (GRCm39) E218* probably null Het
Lpar1 A G 4: 58,486,902 (GRCm39) L105P probably damaging Het
Megf8 G A 7: 25,039,714 (GRCm39) G936D possibly damaging Het
Mov10 G A 3: 104,709,849 (GRCm39) H346Y probably benign Het
Nfia A G 4: 97,671,538 (GRCm39) I83V probably damaging Het
Or5b101 G T 19: 13,005,150 (GRCm39) A181E probably damaging Het
Or6d15 T C 6: 116,559,808 (GRCm39) Y33C probably damaging Het
Pcdhgb6 T G 18: 37,875,640 (GRCm39) I116S probably damaging Het
Pdcd6ip G T 9: 113,520,586 (GRCm39) Q133K probably damaging Het
Phkb A G 8: 86,744,097 (GRCm39) D582G probably damaging Het
Pik3cd A T 4: 149,743,588 (GRCm39) V207E probably damaging Het
Ptov1 T C 7: 44,513,008 (GRCm39) Q397R probably damaging Het
Rangap1 A G 15: 81,590,647 (GRCm39) F482L probably benign Het
Rapgef1 T A 2: 29,627,977 (GRCm39) N1052K probably damaging Het
Rasl12 G T 9: 65,305,949 (GRCm39) A35S probably damaging Het
Rnf169 A T 7: 99,584,367 (GRCm39) probably null Het
Sec16a A G 2: 26,330,044 (GRCm39) V657A possibly damaging Het
Sin3a G A 9: 57,012,957 (GRCm39) R612H probably damaging Het
Six6 T A 12: 72,988,475 (GRCm39) L216* probably null Het
Tbce T C 13: 14,180,550 (GRCm39) I293M probably damaging Het
Tektl1 G A 10: 78,588,688 (GRCm39) Q41* probably null Het
Tmem176a T C 6: 48,821,630 (GRCm39) L204P probably damaging Het
Tmem87a A G 2: 120,193,358 (GRCm39) probably null Het
Tns1 A T 1: 74,029,568 (GRCm39) probably null Het
Usf3 T A 16: 44,037,826 (GRCm39) S769T probably benign Het
Vmn2r82 A G 10: 79,192,491 (GRCm39) T23A probably null Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wwc2 A T 8: 48,316,906 (GRCm39) I729K unknown Het
Zbtb44 A G 9: 30,964,601 (GRCm39) probably null Het
Zfp800 A T 6: 28,242,992 (GRCm39) S658T probably damaging Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Zfp935 G T 13: 62,602,632 (GRCm39) Y189* probably null Het
Zkscan1 T A 5: 138,095,363 (GRCm39) H203Q probably benign Het
Zkscan14 T C 5: 145,132,604 (GRCm39) D309G probably benign 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
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
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'- AAGGCAGCTTAGGAATTCTCCAG -3'
(R):5'- TGCAGCCAGTATTTCCATGG -3'

Sequencing Primer
(F):5'- GGAATTCTCCAGTGTTTCCAAGAAGC -3'
(R):5'- AGCCAGTATTTCCATGGTGACC -3'
Posted On 2016-08-04