Incidental Mutation 'R6765:Vps26b'
ID 531866
Institutional Source Beutler Lab
Gene Symbol Vps26b
Ensembl Gene ENSMUSG00000031988
Gene Name VPS26 retromer complex component B
Synonyms 2310075A12Rik, 1810012I05Rik
MMRRC Submission 044881-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6765 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 26919067-26941361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26924104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 213 (E213G)
Ref Sequence ENSEMBL: ENSMUSP00000034470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034470]
AlphaFold Q8C0E2
PDB Structure Crystal Structure of mouse Vps26B [X-RAY DIFFRACTION]
Crystal structure of mouse VPS26B in spacegroup P41 21 2 [X-RAY DIFFRACTION]
Crystal structure of mouse VPS26B(L197S/R199E) in spacegroup P41 21 2 [X-RAY DIFFRACTION]
Crystal structure of mouse VPS26B(R240S/G241A/E242S) in spacegroup P41 21 2 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000034470
AA Change: E213G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034470
Gene: ENSMUSG00000031988
AA Change: E213G

DomainStartEndE-ValueType
Pfam:Vps26 6 281 1e-135 PFAM
Meta Mutation Damage Score 0.9245 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (58/58)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal behavior, growth, and health. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 C A 7: 82,216,232 (GRCm39) D878E possibly damaging Het
Adipor2 A C 6: 119,334,203 (GRCm39) F336V possibly damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Aoc1 A G 6: 48,882,871 (GRCm39) N249S probably benign Het
Ap1b1 T A 11: 4,969,427 (GRCm39) L261Q probably damaging Het
Ap3b1 T A 13: 94,599,017 (GRCm39) D530E probably benign Het
Arid4b T A 13: 14,361,900 (GRCm39) M788K possibly damaging Het
Atp2c2 A T 8: 120,479,756 (GRCm39) I762F probably damaging Het
Bhlhe23 C A 2: 180,418,136 (GRCm39) R134L probably damaging Het
Cacna2d3 T C 14: 28,777,934 (GRCm39) D687G probably damaging Het
Ccdc136 G A 6: 29,405,940 (GRCm39) M95I probably benign Het
Cdk12 T A 11: 98,115,355 (GRCm39) I832N unknown Het
Clcn2 A C 16: 20,526,418 (GRCm39) probably null Het
Csrnp2 C T 15: 100,380,574 (GRCm39) R239Q probably damaging Het
Dhrs13 T A 11: 77,927,965 (GRCm39) D270E probably benign Het
Dlgap2 G A 8: 14,793,284 (GRCm39) G426D probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fam120a A G 13: 49,045,440 (GRCm39) Y799H probably damaging Het
Farp1 G A 14: 121,460,066 (GRCm39) V112I probably benign Het
Fhip2a A G 19: 57,367,177 (GRCm39) D240G probably benign Het
Fsip2 A G 2: 82,816,776 (GRCm39) I4170V probably benign Het
Gm12185 A G 11: 48,806,531 (GRCm39) V220A probably benign Het
Gpr37l1 T C 1: 135,094,860 (GRCm39) Y128C probably damaging Het
Gsto2 A T 19: 47,860,227 (GRCm39) R7* probably null Het
Itih3 C T 14: 30,631,430 (GRCm39) G822D probably benign Het
Kcnu1 A T 8: 26,403,673 (GRCm39) D728V probably damaging Het
Khdc4 G T 3: 88,593,736 (GRCm39) G42W probably damaging Het
Lnpep G A 17: 17,750,758 (GRCm39) T976I probably damaging Het
Map1b A C 13: 99,562,449 (GRCm39) H2420Q unknown Het
Mc1r A G 8: 124,134,435 (GRCm39) K63E probably damaging Het
Mpped1 G A 15: 83,720,584 (GRCm39) V15M probably damaging Het
Ncor1 T C 11: 62,264,272 (GRCm39) T103A probably benign Het
Nhsl1 A T 10: 18,407,062 (GRCm39) T1399S probably benign Het
Nlrc5 C T 8: 95,216,996 (GRCm39) T995M probably benign Het
Nrbp1 G A 5: 31,403,190 (GRCm39) probably null Het
Or10g9 A C 9: 39,912,493 (GRCm39) F10C probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or8k27 T C 2: 86,275,580 (GRCm39) T249A probably benign Het
Pcdhb13 T C 18: 37,576,663 (GRCm39) L347P probably damaging Het
Pkhd1 T C 1: 20,128,563 (GRCm39) T4047A probably benign Het
Prrt2 T A 7: 126,618,769 (GRCm39) D232V probably damaging Het
Psmd5 A C 2: 34,746,545 (GRCm39) M344R probably benign Het
Pwp1 G A 10: 85,720,397 (GRCm39) E345K probably damaging Het
Qsox1 A G 1: 155,666,851 (GRCm39) Y213H probably benign Het
Rmc1 A G 18: 12,309,203 (GRCm39) N92D possibly damaging Het
Sclt1 T C 3: 41,685,337 (GRCm39) R39G unknown Het
Syne1 A T 10: 5,093,285 (GRCm39) probably null Het
Tmem163 G T 1: 127,479,078 (GRCm39) A147E probably damaging Het
Trav13n-4 A T 14: 53,601,557 (GRCm39) M109L probably benign Het
Trp53bp1 T C 2: 121,039,790 (GRCm39) E1283G probably damaging Het
Trpm6 T A 19: 18,855,129 (GRCm39) D1929E probably damaging Het
Upb1 A T 10: 75,273,978 (GRCm39) D335V probably damaging Het
Vwc2 C T 11: 11,104,215 (GRCm39) T249I probably benign Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zan A G 5: 137,391,409 (GRCm39) C4692R unknown Het
Zfp106 T C 2: 120,369,935 (GRCm39) E29G probably damaging Het
Zfp551 G A 7: 12,150,767 (GRCm39) A214V possibly damaging Het
Zfp981 T A 4: 146,622,363 (GRCm39) H429Q probably benign Het
Other mutations in Vps26b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03308:Vps26b APN 9 26,940,796 (GRCm39) missense probably damaging 1.00
R0173:Vps26b UTSW 9 26,924,101 (GRCm39) missense probably benign 0.07
R0947:Vps26b UTSW 9 26,924,077 (GRCm39) missense probably damaging 1.00
R1515:Vps26b UTSW 9 26,924,041 (GRCm39) missense probably damaging 1.00
R4700:Vps26b UTSW 9 26,926,511 (GRCm39) missense probably damaging 0.96
R4777:Vps26b UTSW 9 26,921,752 (GRCm39) missense possibly damaging 0.92
R6528:Vps26b UTSW 9 26,921,762 (GRCm39) missense probably benign
R6841:Vps26b UTSW 9 26,921,760 (GRCm39) missense probably benign 0.10
R6933:Vps26b UTSW 9 26,926,613 (GRCm39) missense possibly damaging 0.93
R7209:Vps26b UTSW 9 26,921,288 (GRCm39) missense probably benign 0.00
R7761:Vps26b UTSW 9 26,940,826 (GRCm39) missense probably benign 0.20
R9134:Vps26b UTSW 9 26,921,225 (GRCm39) missense probably benign
R9326:Vps26b UTSW 9 26,930,627 (GRCm39) missense probably damaging 0.96
R9327:Vps26b UTSW 9 26,930,750 (GRCm39) missense probably benign 0.43
X0060:Vps26b UTSW 9 26,940,779 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTTCAAAATTTGAGCCCTTCC -3'
(R):5'- CCCATAGTGAGGTTGAACATACAC -3'

Sequencing Primer
(F):5'- TTCCCCAATGCTGAAACTGAG -3'
(R):5'- CAGGGGCATCCTAGATAGCTTG -3'
Posted On 2018-08-29