Incidental Mutation 'R1114:Scamp2'
ID 97049
Institutional Source Beutler Lab
Gene Symbol Scamp2
Ensembl Gene ENSMUSG00000040188
Gene Name secretory carrier membrane protein 2
Synonyms Sc2
MMRRC Submission 039187-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1114 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 57468226-57496078 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57488863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 188 (I188N)
Ref Sequence ENSEMBL: ENSMUSP00000038350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045791] [ENSMUST00000215942] [ENSMUST00000216986]
AlphaFold Q9ERN0
Predicted Effect probably damaging
Transcript: ENSMUST00000045791
AA Change: I188N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038350
Gene: ENSMUSG00000040188
AA Change: I188N

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
Meta Mutation Damage Score 0.8987 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.5%
  • 20x: 84.2%
Validation Efficiency 100% (47/47)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik T A 9: 8,222,179 (GRCm39) noncoding transcript Het
Acss3 T A 10: 106,824,740 (GRCm39) R422S possibly damaging Het
Asb15 G A 6: 24,567,176 (GRCm39) R499H probably damaging Het
Aspm C T 1: 139,389,662 (GRCm39) probably benign Het
Camk2d G A 3: 126,633,941 (GRCm39) V488M probably damaging Het
Cd247 A G 1: 165,616,407 (GRCm39) K4E probably benign Het
Cdh20 A G 1: 104,906,739 (GRCm39) D522G probably damaging Het
Cse1l T A 2: 166,783,123 (GRCm39) probably benign Het
Dctn2 T A 10: 127,114,011 (GRCm39) probably null Het
Dpy19l1 A T 9: 24,336,072 (GRCm39) F545I probably benign Het
Dpy19l4 A G 4: 11,287,643 (GRCm39) probably benign Het
Dsg4 A T 18: 20,599,540 (GRCm39) T719S possibly damaging Het
Dusp12 A C 1: 170,708,586 (GRCm39) V48G probably damaging Het
Efcab7 A T 4: 99,735,452 (GRCm39) R159* probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbxw20 A G 9: 109,052,550 (GRCm39) V261A probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Inpp5j C A 11: 3,444,814 (GRCm39) R953L possibly damaging Het
Itprid2 A G 2: 79,487,873 (GRCm39) E652G probably damaging Het
Lrrk2 C T 15: 91,584,671 (GRCm39) R363* probably null Het
Ltbp1 A G 17: 75,667,770 (GRCm39) D1089G probably benign Het
Luc7l T C 17: 26,494,832 (GRCm39) probably benign Het
Mdn1 G A 4: 32,746,568 (GRCm39) probably null Het
Mgat4a A T 1: 37,503,487 (GRCm39) probably benign Het
Mmp12 A G 9: 7,358,289 (GRCm39) T392A possibly damaging Het
Nlrp12 A G 7: 3,277,166 (GRCm39) V921A probably benign Het
Or5m5 A T 2: 85,814,651 (GRCm39) I156F probably benign Het
Or5t7 G A 2: 86,507,629 (GRCm39) T16I possibly damaging Het
Or6c8b T A 10: 128,882,711 (GRCm39) I74F possibly damaging Het
Pkd2l1 T C 19: 44,179,983 (GRCm39) probably benign Het
Pramel24 A G 4: 143,453,425 (GRCm39) I178V probably benign Het
Rictor C A 15: 6,823,486 (GRCm39) C1554* probably null Het
Ryr2 A G 13: 11,960,867 (GRCm39) C24R probably damaging Het
Smg1 A T 7: 117,759,013 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Synrg C A 11: 83,914,262 (GRCm39) probably benign Het
Syt9 G T 7: 107,024,562 (GRCm39) V152F possibly damaging Het
Trmt2a A G 16: 18,068,304 (GRCm39) probably benign Het
Vmn2r100 T C 17: 19,752,261 (GRCm39) I831T probably damaging Het
Vps13a G T 19: 16,727,515 (GRCm39) H196N probably benign Het
Xdh T C 17: 74,248,144 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CAAGAATTAGCCCAGGGTCTGCAC -3'
(R):5'- TCTGCTCCGAGTTGAGAAGAGGAAG -3'

Sequencing Primer
(F):5'- TCCCTGTATGAGGTCCTAGAGAAAC -3'
(R):5'- GAGGAAGGCAATTCCCTCC -3'
Posted On 2014-01-05