Incidental Mutation 'R5067:Vps26c'
ID 388391
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 042657-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R5067 (G1)
Quality Score 218
Status Validated
Chromosome 16
Chromosomal Location 94298583-94327488 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 94327263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023615] [ENSMUST00000125229]
AlphaFold O35075
Predicted Effect probably benign
Transcript: ENSMUST00000023615
SMART Domains Protein: ENSMUSP00000023615
Gene: ENSMUSG00000022898

DomainStartEndE-ValueType
Pfam:Vps26 3 283 2.5e-79 PFAM
Pfam:Arrestin_N 5 144 9.7e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125229
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: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 100% (54/54)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 T C 12: 112,748,936 (GRCm39) N304D probably benign Het
Akr7a5 T C 4: 139,038,333 (GRCm39) S90P probably damaging Het
Aplnr T A 2: 84,967,128 (GRCm39) V51E probably damaging Het
Arhgap21 A T 2: 20,884,848 (GRCm39) H776Q probably damaging Het
Asxl3 C G 18: 22,658,356 (GRCm39) A2122G possibly damaging Het
Bsn T A 9: 107,989,152 (GRCm39) Y2200F probably damaging Het
Btbd10 A T 7: 112,925,043 (GRCm39) D268E probably damaging Het
Cacna1h T C 17: 25,616,782 (GRCm39) N113D probably damaging Het
Cfap54 T C 10: 92,902,628 (GRCm39) N175D probably benign Het
Cfap61 A G 2: 145,943,956 (GRCm39) D134G probably damaging Het
Clybl A T 14: 122,616,701 (GRCm39) I239L possibly damaging Het
Defb11 A T 8: 22,396,352 (GRCm39) F15Y probably damaging Het
Dlc1 A G 8: 37,051,647 (GRCm39) S695P probably benign Het
Fbxl5 T C 5: 43,916,114 (GRCm39) K432E probably benign Het
Fryl T C 5: 73,215,098 (GRCm39) E2226G probably benign Het
Gm10337 T A 15: 102,412,306 (GRCm39) probably null Het
Gm5828 A G 1: 16,839,516 (GRCm39) noncoding transcript Het
Gm8674 A T 13: 50,053,870 (GRCm39) noncoding transcript Het
Ighv6-5 T C 12: 114,380,191 (GRCm39) probably null Het
Insyn2a A T 7: 134,520,284 (GRCm39) V82E probably benign Het
Ints14 C A 9: 64,871,694 (GRCm39) L11M probably damaging Het
Kcp G A 6: 29,492,107 (GRCm39) P153L probably benign Het
Lrrk2 A C 15: 91,649,993 (GRCm39) N1710T probably benign Het
Marchf10 T A 11: 105,280,933 (GRCm39) T451S possibly damaging Het
Mcf2l T G 8: 12,965,959 (GRCm39) probably benign Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Neurod2 T A 11: 98,218,063 (GRCm39) H367L possibly damaging Het
Nfatc4 A T 14: 56,069,875 (GRCm39) Q681L probably damaging Het
Nkx3-2 T C 5: 41,919,220 (GRCm39) N256S probably damaging Het
Ntng1 G A 3: 110,042,661 (GRCm39) T55M possibly damaging Het
Snd1 C A 6: 28,888,239 (GRCm39) N891K probably damaging Het
Syt7 T C 19: 10,420,222 (GRCm39) V382A possibly damaging Het
Trim72 T C 7: 127,609,139 (GRCm39) S314P possibly damaging Het
Ttc41 T C 10: 86,580,408 (GRCm39) S785P probably damaging Het
Ube2z C T 11: 95,953,835 (GRCm39) V128I probably benign Het
Wdr43 T C 17: 71,933,849 (GRCm39) Y149H probably benign Het
Wnk4 T A 11: 101,153,682 (GRCm39) V248E probably damaging Het
Zcchc2 A T 1: 105,958,694 (GRCm39) N1055I probably damaging Het
Zdhhc23 T C 16: 43,794,134 (GRCm39) Y180C probably benign 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
R1256:Vps26c UTSW 16 94,313,225 (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
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'- AAGGGGCGTTTGTCATCTGC -3'
(R):5'- GCTATCACTTCCGGAAACCC -3'

Sequencing Primer
(F):5'- TCTTCACCCCCAGAGCG -3'
(R):5'- TCCGAAACGCAGCCTTTCG -3'
Posted On 2016-06-06