Incidental Mutation 'R1256:Vps26c'
ID 151472
Institutional Source Beutler Lab
Gene Symbol Vps26c
Ensembl Gene ENSMUSG00000022898
Gene Name VPS26 endosomal protein sorting factor C
Synonyms Dscr3, Down syndrome critical region gene 3, Dcra
MMRRC Submission 039323-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R1256 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 94298583-94327488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94313225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 22 (L22P)
Ref Sequence ENSEMBL: ENSMUSP00000156097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023615] [ENSMUST00000125229]
AlphaFold O35075
Predicted Effect probably damaging
Transcript: ENSMUST00000023615
AA Change: L22P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023615
Gene: ENSMUSG00000022898
AA Change: L22P

DomainStartEndE-ValueType
Pfam:Vps26 3 283 2.5e-79 PFAM
Pfam:Arrestin_N 5 144 9.7e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125229
AA Change: L22P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210205
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Apaf1 A G 10: 90,894,268 (GRCm39) Y456H probably benign Het
Arhgef11 A G 3: 87,634,442 (GRCm39) N791S possibly damaging Het
Brat1 A G 5: 140,695,962 (GRCm39) Q66R possibly damaging Het
Capn10 C T 1: 92,874,668 (GRCm39) T633M probably damaging Het
Ccdc186 G T 19: 56,786,053 (GRCm39) L661I probably benign Het
Cln3 A G 7: 126,182,208 (GRCm39) S4P probably damaging Het
Cnot10 G T 9: 114,439,749 (GRCm39) S520Y probably damaging Het
Csmd1 A T 8: 16,129,978 (GRCm39) F1715I probably damaging Het
Ezh2 A T 6: 47,518,789 (GRCm39) C545* probably null Het
Hivep1 C T 13: 42,335,307 (GRCm39) S2282F probably damaging Het
Jag2 T C 12: 112,878,039 (GRCm39) E564G possibly damaging Het
Kcnj16 A G 11: 110,916,262 (GRCm39) H308R probably damaging Het
Magi3 C T 3: 103,935,126 (GRCm39) V936I probably benign Het
Mcu G T 10: 59,290,790 (GRCm39) A279E probably damaging Het
Msln A G 17: 25,973,157 (GRCm39) C13R probably damaging Het
Nes A G 3: 87,883,883 (GRCm39) D714G probably benign Het
Nif3l1 T A 1: 58,494,808 (GRCm39) V259D probably damaging Het
Or4c127 A T 2: 89,832,911 (GRCm39) M54L possibly damaging Het
Or5k14 A C 16: 58,693,206 (GRCm39) Y102* probably null Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb9 A G 18: 37,536,169 (GRCm39) D721G possibly damaging Het
Pepd A C 7: 34,620,917 (GRCm39) T61P possibly damaging Het
Pkd1l2 C T 8: 117,746,282 (GRCm39) probably null Het
Poglut3 A C 9: 53,299,762 (GRCm39) R90S possibly damaging Het
Psip1 A G 4: 83,392,604 (GRCm39) S102P probably benign Het
Ralgapa1 T C 12: 55,809,446 (GRCm39) E443G possibly damaging Het
Rnf20 A G 4: 49,638,230 (GRCm39) D114G probably benign Het
Schip1 A T 3: 68,402,375 (GRCm39) I151F probably benign Het
Smarca2 A G 19: 26,659,373 (GRCm39) I888V probably benign Het
Smg1 T C 7: 117,802,310 (GRCm39) T263A probably damaging Het
Spn T C 7: 126,735,445 (GRCm39) K354R possibly damaging Het
Sspo G A 6: 48,434,573 (GRCm39) A1022T probably damaging Het
Strn A C 17: 78,972,046 (GRCm39) probably null Het
Tstd3 T C 4: 21,759,627 (GRCm39) I79M probably damaging Het
Txnl4a A G 18: 80,250,487 (GRCm39) I28V probably benign Het
Uty T C Y: 1,134,884 (GRCm39) D928G probably damaging Het
Vsx2 T A 12: 84,623,085 (GRCm39) L163Q probably damaging Het
Other mutations in Vps26c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02197:Vps26c APN 16 94,302,549 (GRCm39) splice site probably benign
R0644:Vps26c UTSW 16 94,303,054 (GRCm39) missense probably damaging 1.00
R1973:Vps26c UTSW 16 94,302,405 (GRCm39) missense probably damaging 0.99
R2286:Vps26c UTSW 16 94,313,112 (GRCm39) missense possibly damaging 0.69
R3854:Vps26c UTSW 16 94,311,665 (GRCm39) missense probably benign 0.01
R3855:Vps26c UTSW 16 94,311,665 (GRCm39) missense probably benign 0.01
R5067:Vps26c UTSW 16 94,327,263 (GRCm39) unclassified probably benign
R7578:Vps26c UTSW 16 94,299,928 (GRCm39) missense probably damaging 0.99
R7956:Vps26c UTSW 16 94,302,505 (GRCm39) missense probably damaging 1.00
R8944:Vps26c UTSW 16 94,302,481 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- AAGCTCGGATGACTCAAGTCAACAC -3'
(R):5'- TGATACATCACTGTTGTTGGGCAGG -3'

Sequencing Primer
(F):5'- GGATGACTCAAGTCAACACAAGTTTC -3'
(R):5'- ACTGTTGTTGGGCAGGGTTAG -3'
Posted On 2014-01-29