Incidental Mutation 'R9468:Vps26a'
ID 715288
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # R9468 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 62291014-62322584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62300516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 217 (Y217N)
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 probably damaging
Transcript: ENSMUST00000092473
AA Change: Y217N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090130
Gene: ENSMUSG00000020078
AA Change: Y217N

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: Y185N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101087
Gene: ENSMUSG00000020078
AA Change: Y185N

DomainStartEndE-ValueType
Pfam:Vps26 8 283 2.7e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217868
Predicted Effect probably benign
Transcript: ENSMUST00000219574
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik T A 1: 161,784,736 (GRCm39) N68Y probably damaging Het
Acsf3 A T 8: 123,539,769 (GRCm39) I466F probably damaging Het
Akr1b7 T C 6: 34,392,316 (GRCm39) I43T probably benign Het
Alyref T A 11: 120,486,790 (GRCm39) D157V probably damaging Het
Anapc2 T C 2: 25,163,132 (GRCm39) L123P possibly damaging Het
Catsperg2 A T 7: 29,409,432 (GRCm39) probably null Het
Ccz1 G T 5: 143,929,438 (GRCm39) T330K probably benign Het
Chordc1 T A 9: 18,213,425 (GRCm39) F92Y probably benign Het
Cyp2c29 A T 19: 39,296,166 (GRCm39) D199V probably benign Het
Cyp2c70 A G 19: 40,168,889 (GRCm39) S133P probably damaging Het
Dync1li2 G A 8: 105,147,258 (GRCm39) P479S probably benign Het
Fcmr G T 1: 130,801,951 (GRCm39) K68N possibly damaging Het
Frmpd2 T A 14: 33,266,432 (GRCm39) D949E possibly damaging Het
Fscn2 A G 11: 120,253,283 (GRCm39) E250G probably damaging Het
Grk2 A T 19: 4,344,952 (GRCm39) I39N probably damaging Het
Hmmr T A 11: 40,614,314 (GRCm39) R125* probably null Het
Jarid2 T A 13: 45,073,306 (GRCm39) C1195S probably damaging Het
Kcnq4 A T 4: 120,568,494 (GRCm39) D407E probably benign Het
Kif24 A T 4: 41,404,794 (GRCm39) I402N probably damaging Het
Kmt2b A G 7: 30,284,513 (GRCm39) V793A probably damaging Het
Kntc1 T C 5: 123,954,776 (GRCm39) Y2065H probably damaging Het
Krt5 C A 15: 101,615,980 (GRCm39) S545I unknown Het
Larp1b A T 3: 40,930,990 (GRCm39) I290L probably benign Het
Lnx2 C T 5: 146,979,289 (GRCm39) probably benign Het
Lonrf2 A G 1: 38,839,839 (GRCm39) S419P probably damaging Het
Lrrc19 A T 4: 94,526,521 (GRCm39) D345E probably benign Het
Micu3 T A 8: 40,807,422 (GRCm39) L251* probably null Het
Mucl1 G T 15: 103,784,035 (GRCm39) T57N possibly damaging Het
Myh8 C T 11: 67,197,730 (GRCm39) R1866W probably damaging Het
Ndc80 G A 17: 71,806,306 (GRCm39) Q583* probably null Het
Nrap G A 19: 56,330,632 (GRCm39) T1143I possibly damaging Het
Nrde2 A G 12: 100,106,268 (GRCm39) V523A probably benign Het
Or12e9 T A 2: 87,202,116 (GRCm39) V80E probably damaging Het
Or2at4 A T 7: 99,385,180 (GRCm39) I277F possibly damaging Het
Or4c11 C T 2: 88,695,795 (GRCm39) P282L possibly damaging Het
Or5p70 C T 7: 107,994,849 (GRCm39) P174L possibly damaging Het
Pcdhb16 T A 18: 37,611,482 (GRCm39) S147R probably damaging Het
Phf21b T C 15: 84,689,299 (GRCm39) T76A probably damaging Het
Pknox2 A G 9: 36,822,495 (GRCm39) V218A probably benign Het
Plekhg3 C T 12: 76,607,009 (GRCm39) T23I probably damaging Het
Ptprb A G 10: 116,113,274 (GRCm39) T85A probably benign Het
Ptprc A G 1: 138,044,754 (GRCm39) L36P probably benign Het
Rasgrf1 A G 9: 89,880,756 (GRCm39) Q834R probably benign Het
Rnft1 G A 11: 86,381,242 (GRCm39) V211I probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,127 (GRCm39) probably benign Het
Ryr1 G A 7: 28,772,510 (GRCm39) L2468F probably damaging Het
Scaf4 C T 16: 90,026,287 (GRCm39) A1177T unknown Het
Sec14l3 A G 11: 4,025,200 (GRCm39) Y270C probably damaging Het
Serpind1 A T 16: 17,154,179 (GRCm39) K2I possibly damaging Het
Slc6a20b A G 9: 123,439,416 (GRCm39) S138P probably damaging Het
Son T A 16: 91,454,439 (GRCm39) M1062K possibly damaging Het
Sorl1 T C 9: 42,035,384 (GRCm39) E9G probably benign Het
Spmip9 T C 6: 70,890,627 (GRCm39) Q55R probably benign Het
Stx16 T C 2: 173,933,327 (GRCm39) L102P probably damaging Het
Syt12 A T 19: 4,497,744 (GRCm39) S413T probably damaging Het
Tie1 A G 4: 118,333,376 (GRCm39) L830P probably damaging Het
Tmem156 C T 5: 65,237,531 (GRCm39) R43K probably damaging Het
Tnfrsf19 A G 14: 61,261,623 (GRCm39) S59P possibly damaging Het
Tpk1 T C 6: 43,536,901 (GRCm39) D54G probably benign Het
Trim39 G T 17: 36,571,492 (GRCm39) T422K probably benign Het
Ttn T G 2: 76,536,112 (GRCm39) E35082A Het
Vac14 T A 8: 111,397,738 (GRCm39) D484E probably benign Het
Vmn1r158 G T 7: 22,489,888 (GRCm39) T107N probably damaging Het
Vmn1r51 T A 6: 90,106,930 (GRCm39) I282N probably damaging Het
Zfp942 G A 17: 22,148,422 (GRCm39) T69I probably benign Het
Zmym4 A G 4: 126,800,993 (GRCm39) S536P probably benign Het
Znrf3 A G 11: 5,288,696 (GRCm39) V24A probably damaging Het
Zranb3 A G 1: 127,891,496 (GRCm39) probably null Het
Zzef1 T C 11: 72,814,009 (GRCm39) probably null 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
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
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'- AGTCTATTCAGCTCAAGAACTGTTC -3'
(R):5'- CTGTTTTGAGAAAGGACATTAAGGG -3'

Sequencing Primer
(F):5'- TAGCAAAGCCAATATCCAATGTC -3'
(R):5'- GCTAATCTATTAACCTTGCTGAC -3'
Posted On 2022-06-15