Incidental Mutation 'R1833:Vps26a'
ID 204971
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 039860-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # R1833 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 62291014-62322584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 62294825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 250 (L250V)
Ref Sequence ENSEMBL: ENSMUSP00000101087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092473] [ENSMUST00000105447] [ENSMUST00000219574]
AlphaFold P40336
Predicted Effect probably benign
Transcript: ENSMUST00000092473
AA Change: L282V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000090130
Gene: ENSMUSG00000020078
AA Change: L282V

DomainStartEndE-ValueType
low complexity region 20 32 N/A INTRINSIC
Pfam:Vps26 40 315 3.7e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105447
AA Change: L250V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101087
Gene: ENSMUSG00000020078
AA Change: L250V

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: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.9%
Validation Efficiency 99% (83/84)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,509 (GRCm39) D143V unknown Het
4930438A08Rik C T 11: 58,179,214 (GRCm39) Q183* probably null Het
9230009I02Rik A G 11: 50,982,293 (GRCm39) noncoding transcript Het
Abhd12 T A 2: 150,690,338 (GRCm39) D119V probably damaging Het
Adam1b A G 5: 121,641,000 (GRCm39) I15T possibly damaging Het
Agtpbp1 A T 13: 59,613,797 (GRCm39) probably null Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Arid4a C T 12: 71,122,240 (GRCm39) L874F possibly damaging Het
Bcas3 G A 11: 85,474,775 (GRCm39) V317I probably benign Het
Ccr1 T A 9: 123,764,126 (GRCm39) I135F probably damaging Het
Ces2h A G 8: 105,747,005 (GRCm39) E547G possibly damaging Het
Ces3b T A 8: 105,812,271 (GRCm39) D173E probably damaging Het
Chd3 A G 11: 69,244,949 (GRCm39) L1197S probably damaging Het
Cngb1 A G 8: 95,968,983 (GRCm39) L1175P probably damaging Het
Cyp4f17 T C 17: 32,743,184 (GRCm39) F286L probably benign Het
Dclre1a C T 19: 56,529,932 (GRCm39) probably null Het
Dennd6a T A 14: 26,328,109 (GRCm39) L44H probably damaging Het
Dhx16 A G 17: 36,196,511 (GRCm39) T560A probably benign Het
Dusp12 T C 1: 170,702,022 (GRCm39) M326V probably benign Het
Eif3k T C 7: 28,670,852 (GRCm39) I180V probably benign Het
Erc1 A G 6: 119,720,390 (GRCm39) I437T possibly damaging Het
Farp2 T A 1: 93,504,086 (GRCm39) probably benign Het
Foxa3 A G 7: 18,748,499 (GRCm39) L209P probably damaging Het
Garin2 G A 12: 78,762,280 (GRCm39) probably benign Het
Gen1 A T 12: 11,298,352 (GRCm39) probably benign Het
Gm10305 A G 4: 99,161,363 (GRCm39) T91A unknown Het
Gm14412 T C 2: 177,007,583 (GRCm39) D104G probably benign Het
Gm6900 T C 7: 10,390,515 (GRCm39) noncoding transcript Het
Gpx1 A T 9: 108,216,555 (GRCm39) Y15F possibly damaging Het
H2-M10.3 T C 17: 36,678,387 (GRCm39) Y146C probably damaging Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Hephl1 T C 9: 14,988,224 (GRCm39) Y628C probably damaging Het
Hspa5 T A 2: 34,666,065 (GRCm39) Y636* probably null Het
Htt A G 5: 35,063,092 (GRCm39) probably benign Het
Idh1 T C 1: 65,200,273 (GRCm39) I364V probably benign Het
Itgae G T 11: 73,007,988 (GRCm39) A423S possibly damaging Het
Kng2 T C 16: 22,830,802 (GRCm39) N169S possibly damaging Het
Larp4b C T 13: 9,201,235 (GRCm39) T369I possibly damaging Het
Lcor T C 19: 41,573,387 (GRCm39) I714T probably benign Het
Lhfpl7 A G 5: 113,382,435 (GRCm39) probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Magi2 G T 5: 19,432,455 (GRCm39) G57C probably damaging Het
Mdn1 T A 4: 32,720,761 (GRCm39) H2291Q probably damaging Het
Mgam T C 6: 40,631,652 (GRCm39) probably null Het
Micall2 A G 5: 139,702,508 (GRCm39) V245A probably benign Het
Mipep T G 14: 61,109,512 (GRCm39) Y630D probably damaging Het
Msx2 A T 13: 53,622,221 (GRCm39) M263K probably damaging Het
Nectin2 G T 7: 19,451,633 (GRCm39) P467H probably damaging Het
Nek10 A T 14: 14,842,789 (GRCm38) M165L probably benign Het
Nlrp4b A T 7: 10,459,863 (GRCm39) M455L probably benign Het
Oaz3 TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG TGGAGGCAGGAGCACGGGAGGCAG 3: 94,343,349 (GRCm39) probably benign Het
Or10ad1b T A 15: 98,124,846 (GRCm39) I227F probably damaging Het
Or4c10 T A 2: 89,760,645 (GRCm39) L164* probably null Het
Pcx T A 19: 4,669,132 (GRCm39) V710E probably damaging Het
Pkn2 C T 3: 142,527,408 (GRCm39) R347Q probably damaging Het
Pramel51 T C 12: 88,145,218 (GRCm39) E44G possibly damaging Het
Qsox1 C T 1: 155,666,791 (GRCm39) G233S probably benign Het
Rbl1 T A 2: 157,037,475 (GRCm39) N224I probably damaging Het
Rspry1 A G 8: 95,362,116 (GRCm39) T132A probably damaging Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sema4f A T 6: 82,895,540 (GRCm39) L331H probably benign Het
Sf3b3 T A 8: 111,544,198 (GRCm39) Q814L probably benign Het
Slc19a2 T G 1: 164,089,753 (GRCm39) Y190D probably damaging Het
Smarcc1 T A 9: 109,982,879 (GRCm39) H204Q possibly damaging Het
Sox6 T C 7: 115,376,328 (GRCm39) K135E probably damaging Het
Tecpr1 T C 5: 144,145,426 (GRCm39) Q607R probably damaging Het
Tgfb1i1 A G 7: 127,848,670 (GRCm39) probably benign Het
Tirap T G 9: 35,099,999 (GRCm39) R228S probably benign Het
Trp53bp2 T A 1: 182,256,581 (GRCm39) H50Q probably damaging Het
Try4 A G 6: 41,280,365 (GRCm39) H63R probably damaging Het
Vmn2r25 G A 6: 123,816,643 (GRCm39) P313S probably benign Het
Vwf A G 6: 125,619,000 (GRCm39) H1226R probably benign Het
Wdtc1 TCC TC 4: 133,036,053 (GRCm39) probably benign Het
Zc3hav1l A T 6: 38,274,881 (GRCm39) probably benign Het
Zfp119b T G 17: 56,246,271 (GRCm39) H305P probably damaging Het
Zfp326 C T 5: 106,039,035 (GRCm39) Q134* probably null Het
Zfp975 C T 7: 42,311,263 (GRCm39) R450Q probably benign Het
Zfyve26 A T 12: 79,333,032 (GRCm39) M313K probably benign Het
Zscan5b T C 7: 6,241,965 (GRCm39) S395P 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
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
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'- TGAGGCAAACCATGTTCCC -3'
(R):5'- ACCTGGTGATGTTGCAAGTG -3'

Sequencing Primer
(F):5'- GGCAAACCATGTTCCCACTCC -3'
(R):5'- GCAAGTGTGTAGTACTGTCCAAC -3'
Posted On 2014-06-23