Incidental Mutation 'IGL02982:Scamp2'
ID406596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scamp2
Ensembl Gene ENSMUSG00000040188
Gene Namesecretory carrier membrane protein 2
SynonymsSc2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02982
Quality Score
Status
Chromosome9
Chromosomal Location57560943-57588795 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 57581549 bp
ZygosityHeterozygous
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]
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: 24,804,431 A384D probably benign Het
Adamts19 T A 18: 59,024,518 C961S probably damaging Het
Agbl2 G A 2: 90,805,815 C565Y probably damaging Het
Aox3 G A 1: 58,127,687 E190K probably benign Het
Arf2 T G 11: 103,981,776 D74E probably damaging Het
Bptf T G 11: 107,076,674 D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Ces1a A G 8: 93,044,975 F65L probably damaging Het
Def8 T C 8: 123,456,539 probably benign Het
Fat4 T C 3: 38,890,843 L1295P probably damaging Het
Filip1l A G 16: 57,572,232 H1061R probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gldc A G 19: 30,145,145 probably null Het
Gm597 T C 1: 28,778,054 H299R probably damaging Het
Golgb1 A C 16: 36,925,810 D2917A probably damaging Het
Gpc5 G A 14: 115,369,988 C334Y probably damaging Het
Gpsm1 T A 2: 26,324,859 L252Q probably damaging Het
Iars C T 13: 49,709,709 R546C probably benign Het
Kbtbd8 G T 6: 95,126,566 V399L probably benign Het
Kcnd2 A T 6: 21,217,149 D284V probably damaging Het
Kcnj6 T C 16: 94,832,517 K227R possibly damaging Het
Lhx9 A T 1: 138,838,611 H155Q probably damaging Het
Mcm9 A G 10: 53,625,826 V221A probably damaging Het
Myo9a A T 9: 59,908,208 K2237* probably null Het
Ntf3 A T 6: 126,102,377 D55E probably damaging Het
Olfr1229 G T 2: 89,283,109 T29K probably damaging Het
Olfr61 A T 7: 140,637,952 I84F probably benign Het
Plek T A 11: 16,981,826 I342F probably damaging Het
Polrmt A G 10: 79,738,348 Y853H probably damaging Het
Psg29 A G 7: 17,211,707 T401A probably damaging Het
Ptprb A G 10: 116,322,628 T822A probably benign Het
Ptprq A C 10: 107,586,684 F1616V probably damaging Het
Rpe65 T A 3: 159,600,361 V19E probably damaging Het
Spta1 A G 1: 174,187,288 I445V probably benign Het
Tas2r135 A G 6: 42,406,253 E242G probably benign Het
Ttc22 T C 4: 106,638,586 V379A probably damaging Het
Unc5d C T 8: 28,652,853 G857E probably damaging Het
Usp28 A G 9: 49,018,439 I43V probably benign Het
Vmn2r68 A T 7: 85,234,441 M152K probably benign Het
Wrn C T 8: 33,343,066 G133R probably damaging Het
Zfyve26 G A 12: 79,263,870 T187M probably damaging Het
Zic2 A G 14: 122,478,567 E367G probably damaging Het
Other mutations in Scamp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01817:Scamp2 APN 9 57581620 nonsense probably null
IGL01932:Scamp2 APN 9 57561116 splice site probably benign
IGL02661:Scamp2 APN 9 57587414 unclassified probably benign
IGL03081:Scamp2 APN 9 57587127 missense possibly damaging 0.54
IGL03299:Scamp2 APN 9 57577740 splice site probably null
PIT4280001:Scamp2 UTSW 9 57580793 missense probably damaging 1.00
R1114:Scamp2 UTSW 9 57581580 missense probably damaging 1.00
R2403:Scamp2 UTSW 9 57577712 missense possibly damaging 0.91
R4062:Scamp2 UTSW 9 57577262 critical splice donor site probably null
R4573:Scamp2 UTSW 9 57577194 missense probably damaging 1.00
R4859:Scamp2 UTSW 9 57581651 critical splice donor site probably null
R5449:Scamp2 UTSW 9 57580871 missense probably damaging 1.00
R6923:Scamp2 UTSW 9 57581612 missense probably damaging 0.99
R7123:Scamp2 UTSW 9 57587102 missense probably benign 0.02
Posted On2016-08-02