Incidental Mutation 'R2403:Scamp2'
ID 248823
Institutional Source Beutler Lab
Gene Symbol Scamp2
Ensembl Gene ENSMUSG00000040188
Gene Name secretory carrier membrane protein 2
Synonyms Sc2
MMRRC Submission 040369-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2403 (G1)
Quality Score 163
Status Not validated
Chromosome 9
Chromosomal Location 57468226-57496078 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57484995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 67 (V67A)
Ref Sequence ENSEMBL: ENSMUSP00000150920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045791] [ENSMUST00000215942] [ENSMUST00000216986]
AlphaFold Q9ERN0
Predicted Effect probably benign
Transcript: ENSMUST00000045791
AA Change: V67A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000038350
Gene: ENSMUSG00000040188
AA Change: V67A

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 possibly damaging
Transcript: ENSMUST00000216986
AA Change: V67A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217200
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.8%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,964,592 (GRCm39) E925G probably damaging Het
Abca9 T G 11: 110,006,280 (GRCm39) Q1275P probably benign Het
Adgrl1 T A 8: 84,657,870 (GRCm39) M492K probably benign Het
Ankrd50 T A 3: 38,537,234 (GRCm39) K3* probably null Het
Arl5b T C 2: 15,079,848 (GRCm39) S140P probably damaging Het
Armc1 T C 3: 19,211,840 (GRCm39) probably benign Het
Ascc1 T C 10: 59,840,663 (GRCm39) I8T probably benign Het
Bche A G 3: 73,608,805 (GRCm39) V207A probably damaging Het
Cacna2d3 A G 14: 28,627,259 (GRCm39) L1080P probably benign Het
Ceacam3 C A 7: 16,895,779 (GRCm39) A583D probably damaging Het
Cep290 C T 10: 100,373,299 (GRCm39) A1193V probably benign Het
Clcn1 T C 6: 42,290,046 (GRCm39) I827T probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col28a1 T C 6: 8,175,641 (GRCm39) D69G possibly damaging Het
Cts3 A G 13: 61,712,806 (GRCm39) W305R probably damaging Het
Dmwd T C 7: 18,815,084 (GRCm39) I578T possibly damaging Het
Dnmt3a G A 12: 3,949,883 (GRCm39) V559M probably damaging Het
Dysf T C 6: 84,016,549 (GRCm39) V70A possibly damaging Het
Eml6 A G 11: 29,752,434 (GRCm39) V993A probably benign Het
Etl4 T A 2: 20,812,117 (GRCm39) L1768* probably null Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fat3 T G 9: 15,881,167 (GRCm39) D3235A probably damaging Het
Fbxo36 T A 1: 84,877,823 (GRCm39) F162I probably damaging Het
Fgfrl1 T C 5: 108,852,897 (GRCm39) W200R probably damaging Het
Fsip2 T C 2: 82,811,064 (GRCm39) M2461T possibly damaging Het
Fut1 A G 7: 45,268,643 (GRCm39) Y144C probably benign Het
Gprin3 G A 6: 59,331,134 (GRCm39) A391V probably benign Het
H2-Q4 A G 17: 35,598,973 (GRCm39) E81G probably damaging Het
Hacd3 A G 9: 64,908,311 (GRCm39) S162P probably damaging Het
Itga1 A T 13: 115,114,150 (GRCm39) H918Q probably benign Het
Lrp5 C A 19: 3,647,430 (GRCm39) D1271Y probably damaging Het
Lsm8 C T 6: 18,849,643 (GRCm39) T17I probably benign Het
Mup4 T A 4: 59,958,145 (GRCm39) D141V probably damaging Het
Nckap5 G A 1: 125,955,146 (GRCm39) H405Y probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or12k8 T C 2: 36,974,986 (GRCm39) Y258C probably benign Het
Ostf1 T C 19: 18,562,026 (GRCm39) K190R probably benign Het
Pnldc1 A T 17: 13,118,777 (GRCm39) V197E probably damaging Het
Ptprc A G 1: 138,016,270 (GRCm39) S531P probably damaging Het
Ryr3 C T 2: 112,516,973 (GRCm39) E3318K probably damaging Het
Serpina3g C A 12: 104,207,421 (GRCm39) L195M probably damaging Het
Siglec1 G T 2: 130,916,395 (GRCm39) T1185N possibly damaging Het
Sycp2 G A 2: 178,045,528 (GRCm39) Q31* probably null Het
Tmprss15 T G 16: 78,854,578 (GRCm39) T277P probably damaging Het
Trim34b C T 7: 103,978,876 (GRCm39) S41L probably benign Het
Ttn T C 2: 76,557,705 (GRCm39) T21507A possibly damaging Het
Umad1 T C 6: 8,427,161 (GRCm39) V138A possibly damaging Het
Zfp523 A G 17: 28,414,183 (GRCm39) I72M probably damaging Het
Zfp655 C T 5: 145,181,356 (GRCm39) R405C probably benign Het
Zfp715 G A 7: 42,948,692 (GRCm39) R423C possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GGAGAGCCTGCTACCTAGTAAG -3'
(R):5'- TAGAGCTTATTCCAGGGGCTG -3'

Sequencing Primer
(F):5'- CCTAGTAAGGCCACAGGGGTG -3'
(R):5'- GGGTTGGGTAGGAGGAGTAG -3'
Posted On 2014-11-11