Incidental Mutation 'R0947:Vps26b'
ID 81669
Institutional Source Beutler Lab
Gene Symbol Vps26b
Ensembl Gene ENSMUSG00000031988
Gene Name VPS26 retromer complex component B
Synonyms 2310075A12Rik, 1810012I05Rik
MMRRC Submission 039086-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0947 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 26919067-26941361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26924077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 222 (Y222C)
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: Y222C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034470
Gene: ENSMUSG00000031988
AA Change: Y222C

DomainStartEndE-ValueType
Pfam:Vps26 6 281 1e-135 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213917
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.2%
  • 10x: 95.4%
  • 20x: 89.2%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh7a1 A T 18: 56,693,910 (GRCm39) probably null Het
Atm A G 9: 53,415,392 (GRCm39) V833A probably benign Het
Atp6v1b1 A T 6: 83,730,814 (GRCm39) I180F probably damaging Het
Cwf19l2 T C 9: 3,421,286 (GRCm39) S188P probably benign Het
Gdpd1 T G 11: 86,928,707 (GRCm39) E240D probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Htt T C 5: 35,056,268 (GRCm39) S2681P probably damaging Het
Itgad A G 7: 127,774,865 (GRCm39) D40G probably benign Het
Krt18 A G 15: 101,939,163 (GRCm39) Y249C possibly damaging Het
Lrp2 G T 2: 69,318,182 (GRCm39) P2090T probably damaging Het
Lrrc32 A G 7: 98,148,090 (GRCm39) D290G probably benign Het
Man1a A T 10: 53,809,619 (GRCm39) Y486* probably null Het
Mcm9 CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC 10: 53,413,597 (GRCm39) probably benign Het
Nin A T 12: 70,107,960 (GRCm39) C211S probably damaging Het
Npat A C 9: 53,481,624 (GRCm39) I1111L probably benign Het
Or5p79 A G 7: 108,221,879 (GRCm39) I287V probably benign Het
Or9i1b T A 19: 13,896,535 (GRCm39) H50Q probably benign Het
Pbx1 A G 1: 168,030,935 (GRCm39) S228P probably damaging Het
Pcsk7 G T 9: 45,822,470 (GRCm39) R230L probably damaging Het
Prom2 G T 2: 127,380,183 (GRCm39) Q350K possibly damaging Het
Racgap1 C T 15: 99,522,195 (GRCm39) A458T possibly damaging Het
Rsf1 T A 7: 97,318,985 (GRCm39) C912S probably damaging Het
Setd2 G A 9: 110,377,579 (GRCm39) E465K possibly damaging Het
Sgk2 T A 2: 162,848,758 (GRCm39) D269E probably benign Het
Spsb1 T C 4: 149,991,536 (GRCm39) T11A probably benign Het
Tln2 A T 9: 67,203,095 (GRCm39) S509T probably benign Het
Trim5 A T 7: 103,914,958 (GRCm39) D370E probably damaging Het
Ttn T A 2: 76,715,574 (GRCm39) probably benign Het
Ubr2 C A 17: 47,252,038 (GRCm39) G1501C probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r93 A T 17: 18,524,343 (GRCm39) R112S probably benign Het
Wdr64 T A 1: 175,603,315 (GRCm39) Y198N probably benign Het
Xrn1 A T 9: 95,880,316 (GRCm39) K752I possibly damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp386 T C 12: 116,023,398 (GRCm39) I372T probably benign Het
Zfp804a T C 2: 82,089,062 (GRCm39) Y964H possibly damaging 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
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
R6765:Vps26b UTSW 9 26,924,104 (GRCm39) missense probably damaging 1.00
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'- AAAAGGTCAGTGTGGGGCTGTC -3'
(R):5'- CCCATAGTGAGGTTGAACATACACGTC -3'

Sequencing Primer
(F):5'- GGGCTACAAGGAAGACCTTCTC -3'
(R):5'- GATAGCTTGCTCCATGCTGAAAC -3'
Posted On 2013-11-08