Incidental Mutation 'IGL03081:Scamp2'
ID 417868
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 # IGL03081
Quality Score
Status
Chromosome 9
Chromosomal Location 57468226-57496078 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57494410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 261 (V261A)
Ref Sequence ENSEMBL: ENSMUSP00000038350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045791] [ENSMUST00000053230] [ENSMUST00000215748]
AlphaFold Q9ERN0
Predicted Effect possibly damaging
Transcript: ENSMUST00000045791
AA Change: V261A

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038350
Gene: ENSMUSG00000040188
AA Change: V261A

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 probably benign
Transcript: ENSMUST00000053230
SMART Domains Protein: ENSMUSP00000059947
Gene: ENSMUSG00000032308

DomainStartEndE-ValueType
S_TKc 14 270 4.74e-98 SMART
MIT 277 354 1.1e-10 SMART
MIT 372 450 2.96e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215146
Predicted Effect probably benign
Transcript: ENSMUST00000215748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216667
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 C A 19: 43,770,841 (GRCm39) probably benign Het
Acan T G 7: 78,748,291 (GRCm39) S1021A probably benign Het
Adamts6 A G 13: 104,581,464 (GRCm39) probably benign Het
Apc2 A G 10: 80,148,086 (GRCm39) K1018E probably damaging Het
Arhgef28 A T 13: 98,165,881 (GRCm39) probably benign Het
Atp2b1 T C 10: 98,830,675 (GRCm39) probably benign Het
Cct6b A T 11: 82,654,995 (GRCm39) L20* probably null Het
Cd300ld2 G A 11: 114,903,368 (GRCm39) probably benign Het
Cdc23 T G 18: 34,769,757 (GRCm39) K454T probably damaging Het
Cdh20 A T 1: 104,868,982 (GRCm39) I158F probably damaging Het
Cdk14 C T 5: 4,999,527 (GRCm39) probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clec2i A T 6: 128,871,728 (GRCm39) Y113F probably damaging Het
Dmpk T A 7: 18,821,458 (GRCm39) S239T probably damaging Het
Dnah8 T C 17: 30,905,347 (GRCm39) probably benign Het
Exoc2 A G 13: 31,084,885 (GRCm39) Y359H probably benign Het
Eya1 A T 1: 14,253,415 (GRCm39) F520L possibly damaging Het
Fgfr1op2 A T 6: 146,498,817 (GRCm39) I217F probably damaging Het
Gm12258 A G 11: 58,749,085 (GRCm39) N87D probably benign Het
Gp6 A G 7: 4,374,647 (GRCm39) S225P probably benign Het
Hdac7 T C 15: 97,696,187 (GRCm39) Y619C probably damaging Het
Lars1 A G 18: 42,343,156 (GRCm39) I1087T probably benign Het
Lrrc37a G T 11: 103,347,421 (GRCm39) H3091Q unknown Het
Mcm3ap T C 10: 76,306,150 (GRCm39) S88P possibly damaging Het
Mrps23 G A 11: 88,101,043 (GRCm39) R117Q probably benign Het
Nbea T C 3: 55,987,339 (GRCm39) S384G probably damaging Het
Ndufs4 A T 13: 114,444,373 (GRCm39) I135N possibly damaging Het
Noto T C 6: 85,401,091 (GRCm39) F40S probably damaging Het
Nr5a1 A T 2: 38,600,544 (GRCm39) V41D possibly damaging Het
Or8b50 C T 9: 38,518,166 (GRCm39) A135V probably benign Het
Papola T A 12: 105,785,114 (GRCm39) H415Q probably damaging Het
Pcm1 C T 8: 41,728,097 (GRCm39) T557I probably damaging Het
Pde11a A T 2: 75,906,274 (GRCm39) probably benign Het
Pls1 A G 9: 95,655,696 (GRCm39) V352A probably damaging Het
Pygm T C 19: 6,438,851 (GRCm39) S226P possibly damaging Het
Rnf17 T A 14: 56,671,828 (GRCm39) S273R probably benign Het
Slc7a12 T A 3: 14,546,315 (GRCm39) F153L probably benign Het
Smchd1 A T 17: 71,667,186 (GRCm39) D1735E probably damaging Het
Stk40 A G 4: 126,017,507 (GRCm39) probably null Het
Tas2r124 C T 6: 132,732,497 (GRCm39) L269F possibly damaging Het
Tmem260 A C 14: 48,733,750 (GRCm39) I216L probably benign Het
Ubr1 C A 2: 120,791,637 (GRCm39) A116S possibly damaging Het
Unc13a T C 8: 72,102,193 (GRCm39) K991R probably damaging Het
Vmn2r66 T C 7: 84,657,138 (GRCm39) Y89C probably benign Het
Vps13b A C 15: 35,875,966 (GRCm39) I2784L probably damaging Het
Zbtb26 T A 2: 37,326,612 (GRCm39) K141N possibly damaging Het
Zranb1 T A 7: 132,552,126 (GRCm39) M259K 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
IGL02982:Scamp2 APN 9 57,488,832 (GRCm39) missense probably benign
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