Incidental Mutation 'IGL02982:Scamp2'
ID 406596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scamp2
Ensembl Gene ENSMUSG00000040188
Gene Name secretory carrier membrane protein 2
Synonyms Sc2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02982
Quality Score
Status
Chromosome 9
Chromosomal Location 57468226-57496078 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57488832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 178 (A178T)
Ref Sequence ENSEMBL: ENSMUSP00000038350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045791] [ENSMUST00000215942] [ENSMUST00000216986]
AlphaFold Q9ERN0
Predicted Effect probably benign
Transcript: ENSMUST00000045791
AA Change: A178T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038350
Gene: ENSMUSG00000040188
AA Change: A178T

DomainStartEndE-ValueType
low complexity region 69 83 N/A INTRINSIC
low complexity region 94 106 N/A INTRINSIC
Pfam:SCAMP 117 293 2.6e-68 PFAM
low complexity region 309 328 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213662
Predicted Effect probably benign
Transcript: ENSMUST00000215942
Predicted Effect probably benign
Transcript: ENSMUST00000216986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217200
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 25,294,447 (GRCm39) A384D probably benign Het
Adamts19 T A 18: 59,157,590 (GRCm39) C961S probably damaging Het
Agbl2 G A 2: 90,636,159 (GRCm39) C565Y probably damaging Het
Aox3 G A 1: 58,166,846 (GRCm39) E190K probably benign Het
Arf2 T G 11: 103,872,602 (GRCm39) D74E probably damaging Het
Bptf T G 11: 106,967,500 (GRCm39) D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Ces1a A G 8: 93,771,603 (GRCm39) F65L probably damaging Het
Def8 T C 8: 124,183,278 (GRCm39) probably benign Het
Fat4 T C 3: 38,944,992 (GRCm39) L1295P probably damaging Het
Filip1l A G 16: 57,392,595 (GRCm39) H1061R probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gldc A G 19: 30,122,545 (GRCm39) probably null Het
Golgb1 A C 16: 36,746,172 (GRCm39) D2917A probably damaging Het
Gpc5 G A 14: 115,607,400 (GRCm39) C334Y probably damaging Het
Gpsm1 T A 2: 26,214,871 (GRCm39) L252Q probably damaging Het
Iars1 C T 13: 49,863,185 (GRCm39) R546C probably benign Het
Kbtbd8 G T 6: 95,103,547 (GRCm39) V399L probably benign Het
Kcnd2 A T 6: 21,217,148 (GRCm39) D284V probably damaging Het
Kcnj6 T C 16: 94,633,376 (GRCm39) K227R possibly damaging Het
Lhx9 A T 1: 138,766,349 (GRCm39) H155Q probably damaging Het
Mcm9 A G 10: 53,501,922 (GRCm39) V221A probably damaging Het
Myo9a A T 9: 59,815,491 (GRCm39) K2237* probably null Het
Ntf3 A T 6: 126,079,340 (GRCm39) D55E probably damaging Het
Or13a28 A T 7: 140,217,865 (GRCm39) I84F probably benign Het
Or4c15b G T 2: 89,113,453 (GRCm39) T29K probably damaging Het
Plek T A 11: 16,931,826 (GRCm39) I342F probably damaging Het
Polrmt A G 10: 79,574,182 (GRCm39) Y853H probably damaging Het
Psg29 A G 7: 16,945,632 (GRCm39) T401A probably damaging Het
Ptprb A G 10: 116,158,533 (GRCm39) T822A probably benign Het
Ptprq A C 10: 107,422,545 (GRCm39) F1616V probably damaging Het
Rpe65 T A 3: 159,305,998 (GRCm39) V19E probably damaging Het
Spata31e5 T C 1: 28,817,135 (GRCm39) H299R probably damaging Het
Spta1 A G 1: 174,014,854 (GRCm39) I445V probably benign Het
Tas2r135 A G 6: 42,383,187 (GRCm39) E242G probably benign Het
Ttc22 T C 4: 106,495,783 (GRCm39) V379A probably damaging Het
Unc5d C T 8: 29,142,881 (GRCm39) G857E probably damaging Het
Usp28 A G 9: 48,929,739 (GRCm39) I43V probably benign Het
Vmn2r68 A T 7: 84,883,649 (GRCm39) M152K probably benign Het
Wrn C T 8: 33,833,094 (GRCm39) G133R probably damaging Het
Zfyve26 G A 12: 79,310,644 (GRCm39) T187M probably damaging Het
Zic2 A G 14: 122,715,979 (GRCm39) E367G probably damaging Het
Other mutations in Scamp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01817:Scamp2 APN 9 57,488,903 (GRCm39) nonsense probably null
IGL01932:Scamp2 APN 9 57,468,399 (GRCm39) splice site probably benign
IGL02661:Scamp2 APN 9 57,494,697 (GRCm39) unclassified probably benign
IGL03081:Scamp2 APN 9 57,494,410 (GRCm39) missense possibly damaging 0.54
IGL03299:Scamp2 APN 9 57,485,023 (GRCm39) splice site probably null
PIT4280001:Scamp2 UTSW 9 57,488,076 (GRCm39) missense probably damaging 1.00
R1114:Scamp2 UTSW 9 57,488,863 (GRCm39) missense probably damaging 1.00
R2403:Scamp2 UTSW 9 57,484,995 (GRCm39) missense possibly damaging 0.91
R4062:Scamp2 UTSW 9 57,484,545 (GRCm39) critical splice donor site probably null
R4573:Scamp2 UTSW 9 57,484,477 (GRCm39) missense probably damaging 1.00
R4859:Scamp2 UTSW 9 57,488,934 (GRCm39) critical splice donor site probably null
R5449:Scamp2 UTSW 9 57,488,154 (GRCm39) missense probably damaging 1.00
R6923:Scamp2 UTSW 9 57,488,895 (GRCm39) missense probably damaging 0.99
R7123:Scamp2 UTSW 9 57,494,385 (GRCm39) missense probably benign 0.02
R8220:Scamp2 UTSW 9 57,484,953 (GRCm39) missense probably benign 0.09
R9734:Scamp2 UTSW 9 57,490,175 (GRCm39) missense possibly damaging 0.78
Posted On 2016-08-02