Incidental Mutation 'R2173:Vps26a'
ID 237631
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 040175-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # R2173 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 62291014-62322584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62304171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 150 (I150N)
Ref Sequence ENSEMBL: ENSMUSP00000101087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092473] [ENSMUST00000105447] [ENSMUST00000217868] [ENSMUST00000219574]
AlphaFold P40336
Predicted Effect possibly damaging
Transcript: ENSMUST00000092473
AA Change: I182N

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090130
Gene: ENSMUSG00000020078
AA Change: I182N

DomainStartEndE-ValueType
low complexity region 20 32 N/A INTRINSIC
Pfam:Vps26 40 315 3.7e-137 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105447
AA Change: I150N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101087
Gene: ENSMUSG00000020078
AA Change: I150N

DomainStartEndE-ValueType
Pfam:Vps26 8 283 2.7e-137 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217868
AA Change: I100N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000219574
Meta Mutation Damage Score 0.7157 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (66/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 T A 3: 127,477,239 (GRCm39) H273L probably damaging Het
Alpk3 A G 7: 80,726,648 (GRCm39) Y111C probably damaging Het
Anapc2 T G 2: 25,163,288 (GRCm39) V175G probably benign Het
Arhgap30 T C 1: 171,235,335 (GRCm39) S570P probably damaging Het
AU040320 T C 4: 126,686,069 (GRCm39) L215P probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc65 A G 15: 98,618,914 (GRCm39) N298D probably benign Het
Cfap70 T A 14: 20,458,630 (GRCm39) N727Y probably benign Het
Clcn7 A G 17: 25,364,583 (GRCm39) H63R probably benign Het
Corin A T 5: 72,661,422 (GRCm39) C24S probably benign Het
Cyp1a2 A G 9: 57,584,798 (GRCm39) W419R probably damaging Het
Dlgap4 C A 2: 156,604,732 (GRCm39) A256D probably damaging Het
Eif4enif1 A G 11: 3,192,367 (GRCm39) probably null Het
Eri2 A G 7: 119,385,766 (GRCm39) V245A possibly damaging Het
Erich6b T C 14: 75,896,332 (GRCm39) F73L probably benign Het
Fam110a A G 2: 151,812,429 (GRCm39) C114R probably damaging Het
Fam149a T C 8: 45,806,991 (GRCm39) D288G probably damaging Het
Fam171a1 T A 2: 3,226,656 (GRCm39) Y596* probably null Het
Fsd1 A G 17: 56,298,223 (GRCm39) T183A possibly damaging Het
Fut10 T A 8: 31,726,159 (GRCm39) Y305N probably damaging Het
Ganab A T 19: 8,879,624 (GRCm39) probably benign Het
Gm9922 G T 14: 101,967,012 (GRCm39) probably benign Het
Gp9 A G 6: 87,756,035 (GRCm39) T17A probably benign Het
Gxylt2 T C 6: 100,775,115 (GRCm39) Y345H probably damaging Het
Herc2 A G 7: 55,835,699 (GRCm39) H3269R probably benign Het
Hpx A T 7: 105,241,290 (GRCm39) S374T probably benign Het
Hspa5 T C 2: 34,664,674 (GRCm39) V376A probably damaging Het
Hyi T C 4: 118,219,381 (GRCm39) probably benign Het
Impdh2 G A 9: 108,442,593 (GRCm39) probably null Het
Kremen2 A C 17: 23,961,770 (GRCm39) W246G probably damaging Het
Krt87 A G 15: 101,385,818 (GRCm39) V259A probably damaging Het
L3mbtl4 A T 17: 68,894,188 (GRCm39) H398L probably damaging Het
Lama5 C A 2: 179,838,035 (GRCm39) V894L probably benign Het
Maml2 A G 9: 13,532,912 (GRCm39) probably benign Het
Nup153 A T 13: 46,855,076 (GRCm39) probably benign Het
Or10g6 T G 9: 39,934,550 (GRCm39) I287S probably damaging Het
Or2y15 G T 11: 49,350,967 (GRCm39) V154L probably benign Het
Or5k14 A G 16: 58,692,982 (GRCm39) F177S probably damaging Het
Or8b3b T C 9: 38,584,240 (GRCm39) I180V probably benign Het
Or9r7 G A 10: 129,962,372 (GRCm39) P185S probably benign Het
Otof C T 5: 30,543,718 (GRCm39) R582H probably damaging Het
Otud4 T C 8: 80,395,093 (GRCm39) S543P probably damaging Het
Pde6a A G 18: 61,387,453 (GRCm39) D448G probably damaging Het
Phgdh A G 3: 98,222,427 (GRCm39) V388A probably benign Het
Plin3 G T 17: 56,586,891 (GRCm39) D385E possibly damaging Het
Polg G T 7: 79,105,341 (GRCm39) D734E probably damaging Het
Pomt1 T C 2: 32,140,912 (GRCm39) Y515H probably damaging Het
Prr35 A C 17: 26,167,461 (GRCm39) H25Q probably damaging Het
Pwwp2a G A 11: 43,573,313 (GRCm39) A132T probably benign Het
Rbm6 A T 9: 107,729,390 (GRCm39) F419L possibly damaging Het
Rfx5 A G 3: 94,864,027 (GRCm39) probably null Het
Rnf135 G A 11: 80,080,066 (GRCm39) S119N probably benign Het
Scfd1 T A 12: 51,433,862 (GRCm39) D51E probably benign Het
Smox A T 2: 131,353,944 (GRCm39) E5D possibly damaging Het
Srpk2 T C 5: 23,723,613 (GRCm39) probably null Het
Syne2 T A 12: 76,147,763 (GRCm39) probably benign Het
Tcf20 A G 15: 82,738,893 (GRCm39) S853P possibly damaging Het
Tmem131l A G 3: 83,833,452 (GRCm39) F804L probably damaging Het
Ttll8 A G 15: 88,798,800 (GRCm39) L645P probably damaging Het
Ubr3 T A 2: 69,727,743 (GRCm39) H35Q probably benign Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,214,290 (GRCm39) H287Q probably benign Het
Zfp605 G A 5: 110,275,323 (GRCm39) R147H probably benign Het
Zfyve16 A G 13: 92,631,596 (GRCm39) M1333T probably 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
R1833:Vps26a UTSW 10 62,294,825 (GRCm39) missense probably benign 0.00
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'- CAATACATGTTTCACTTAAGTGGCC -3'
(R):5'- GAGCAGCTCACATCTGAGTTC -3'

Sequencing Primer
(F):5'- GTGCAGTCTTTACTGCTC -3'
(R):5'- AGCAGCTCACATCTGAGTTCTTTATG -3'
Posted On 2014-10-02