Incidental Mutation 'PIT4280001:Scamp2'
ID 554418
Institutional Source Beutler Lab
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 # PIT4280001 (G1)
Quality Score 213.009
Status Not validated
Chromosome 9
Chromosomal Location 57468226-57496078 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57488076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 118 (N118I)
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: N118I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038350
Gene: ENSMUSG00000040188
AA Change: N118I

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: ENSMUST00000215942
Predicted Effect probably damaging
Transcript: ENSMUST00000216986
AA Change: N161I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.9%
  • 10x: 85.5%
  • 20x: 73.2%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik A G 11: 83,331,660 (GRCm39) D161G probably damaging Het
Acer2 C T 4: 86,805,320 (GRCm39) L95F probably damaging Het
Adam15 C T 3: 89,251,285 (GRCm39) probably null Het
Aoc1l3 A T 6: 48,964,054 (GRCm39) M21L probably benign Het
Bmi1 T A 2: 18,687,820 (GRCm39) Y98* probably null Het
Cdon T C 9: 35,398,231 (GRCm39) C983R probably damaging Het
Cfap91 C T 16: 38,153,135 (GRCm39) V160I probably benign Het
Col12a1 T C 9: 79,585,387 (GRCm39) R1297G probably damaging Het
Cpd A T 11: 76,681,850 (GRCm39) M1132K probably benign Het
Dnah17 T A 11: 117,989,408 (GRCm39) R1267W possibly damaging Het
Dnah9 G A 11: 65,895,839 (GRCm39) A2512V probably benign Het
Eri3 G A 4: 117,439,831 (GRCm39) G175D probably damaging Het
Fbxo9 C A 9: 77,994,793 (GRCm39) W244L probably damaging Het
Fgfr3 A T 5: 33,889,576 (GRCm39) H343L probably benign Het
Fmnl2 G A 2: 53,008,208 (GRCm39) A803T unknown Het
Fmnl3 A G 15: 99,219,134 (GRCm39) probably null Het
Fth1 C A 19: 9,961,973 (GRCm39) A104E probably damaging Het
Gcm1 T C 9: 77,966,915 (GRCm39) Y45H probably damaging Het
Gm5157 C G 7: 20,919,007 (GRCm39) G179R probably damaging Het
Gpr179 A G 11: 97,234,941 (GRCm39) I463T probably damaging Het
Gpr35 T C 1: 92,910,356 (GRCm39) Y23H probably damaging Het
Inpp4b C T 8: 82,761,046 (GRCm39) H647Y probably benign Het
Kif6 A T 17: 50,062,148 (GRCm39) K436M probably benign Het
Lacc1 T A 14: 77,272,517 (GRCm39) Q93L probably damaging Het
Lamc1 T C 1: 153,119,217 (GRCm39) R801G probably damaging Het
Lrp2bp T G 8: 46,476,048 (GRCm39) V263G probably damaging Het
Magi3 T A 3: 103,961,668 (GRCm39) K453N probably damaging Het
Mfsd6 T A 1: 52,700,039 (GRCm39) Y703F probably benign Het
Mms22l A G 4: 24,581,149 (GRCm39) T820A probably benign Het
Ndufa12 T C 10: 94,034,994 (GRCm39) probably null Het
Nlrp12 A T 7: 3,290,063 (GRCm39) C150S possibly damaging Het
Noc4l G A 5: 110,799,305 (GRCm39) T159I probably benign Het
Olfml2b T A 1: 170,475,305 (GRCm39) C77S probably damaging Het
Or4c12 A T 2: 89,774,087 (GRCm39) I124N probably damaging Het
Or9a4 C A 6: 40,548,650 (GRCm39) T110K probably damaging Het
Pdzd2 A G 15: 12,399,374 (GRCm39) V784A probably damaging Het
Pip5kl1 A T 2: 32,473,470 (GRCm39) Y369F probably benign Het
Pkdrej A T 15: 85,704,136 (GRCm39) I600N probably benign Het
Psg19 T C 7: 18,530,831 (GRCm39) I108V probably damaging Het
Pxdn G A 12: 30,045,327 (GRCm39) V539M probably damaging Het
Resf1 T G 6: 149,227,023 (GRCm39) I23S probably benign Het
Rsbn1l T A 5: 21,124,653 (GRCm39) H383L probably damaging Het
Scn2a T C 2: 65,546,074 (GRCm39) V879A probably damaging Het
Scn8a G A 15: 100,855,370 (GRCm39) E172K probably damaging Het
Slc16a6 C T 11: 109,349,419 (GRCm39) C214Y possibly damaging Het
Stag1 A G 9: 100,824,769 (GRCm39) T922A possibly damaging Het
Tarbp1 T C 8: 127,157,586 (GRCm39) H1307R probably damaging Het
Tut1 T G 19: 8,936,626 (GRCm39) V150G probably benign Het
Ubr2 G A 17: 47,255,789 (GRCm39) R1371W probably damaging Het
Vmn2r124 A G 17: 18,283,487 (GRCm39) N394D probably benign Het
Vmn2r63 T C 7: 42,553,409 (GRCm39) T616A probably damaging Het
Zp3 G A 5: 136,013,318 (GRCm39) V217M 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
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
Predicted Primers PCR Primer
(F):5'- GTTATCTTGGAGCAGACCTGTG -3'
(R):5'- AGTCTGTGAGGTCTTGACCC -3'

Sequencing Primer
(F):5'- ACCTGTGGGTATCTCTCTGGATTC -3'
(R):5'- TGAGGTCTTGACCCCAGCAAG -3'
Posted On 2019-06-07