Incidental Mutation 'R8071:Scamp5'
ID 628925
Institutional Source Beutler Lab
Gene Symbol Scamp5
Ensembl Gene ENSMUSG00000040722
Gene Name secretory carrier membrane protein 5
Synonyms Sc5
MMRRC Submission 067506-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8071 (G1)
Quality Score 94.0077
Status Not validated
Chromosome 9
Chromosomal Location 57348610-57375343 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57350969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 231 (Y231C)
Ref Sequence ENSEMBL: ENSMUSP00000035898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046587] [ENSMUST00000085709] [ENSMUST00000213771] [ENSMUST00000214065] [ENSMUST00000214144] [ENSMUST00000214166] [ENSMUST00000214256] [ENSMUST00000214339] [ENSMUST00000214624] [ENSMUST00000215299] [ENSMUST00000215734] [ENSMUST00000215883] [ENSMUST00000216365]
AlphaFold Q9JKD3
Predicted Effect probably damaging
Transcript: ENSMUST00000046587
AA Change: Y231C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035898
Gene: ENSMUSG00000040722
AA Change: Y231C

DomainStartEndE-ValueType
Pfam:SCAMP 5 179 2.1e-69 PFAM
low complexity region 201 218 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085709
SMART Domains Protein: ENSMUSP00000082856
Gene: ENSMUSG00000063849

DomainStartEndE-ValueType
Pfam:Flavoprotein 18 149 7.9e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213771
Predicted Effect probably benign
Transcript: ENSMUST00000214065
Predicted Effect probably benign
Transcript: ENSMUST00000214144
Predicted Effect probably benign
Transcript: ENSMUST00000214166
Predicted Effect probably damaging
Transcript: ENSMUST00000214256
AA Change: Y231C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000214339
Predicted Effect probably benign
Transcript: ENSMUST00000214624
Predicted Effect probably benign
Transcript: ENSMUST00000215299
Predicted Effect probably benign
Transcript: ENSMUST00000215734
Predicted Effect probably benign
Transcript: ENSMUST00000215883
Predicted Effect probably benign
Transcript: ENSMUST00000216365
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the Scamp (secretory carrier membrane protein) family. The encoded protein may be involved in neuronal vesicle trafficking. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads T C 5: 115,251,226 (GRCm39) E86G probably benign Het
Agmo A G 12: 37,448,728 (GRCm39) T217A probably damaging Het
Arhgap39 A G 15: 76,621,702 (GRCm39) S300P probably benign Het
Casp12 T C 9: 5,346,647 (GRCm39) L58P probably damaging Het
Ccar2 T C 14: 70,389,902 (GRCm39) T24A probably benign Het
Ccndbp1 C A 2: 120,845,046 (GRCm39) T321K unknown Het
Cd200r3 G A 16: 44,774,503 (GRCm39) C172Y probably damaging Het
Chd2 T A 7: 73,187,132 (GRCm39) H9L probably benign Het
Cracdl C A 1: 37,663,010 (GRCm39) E963* probably null Het
Cramp1 T A 17: 25,201,674 (GRCm39) S603C probably damaging Het
Crtac1 C T 19: 42,286,239 (GRCm39) R448H probably damaging Het
Csmd2 A T 4: 128,287,331 (GRCm39) Y1022F Het
Ctns T C 11: 73,075,760 (GRCm39) Y363C probably damaging Het
D630044L22Rik A G 17: 26,179,118 (GRCm39) T15A possibly damaging Het
Dhx38 A C 8: 110,285,333 (GRCm39) I444M probably benign Het
Dnah14 A T 1: 181,443,459 (GRCm39) I450F possibly damaging Het
Dpf1 T C 7: 29,013,566 (GRCm39) F245L probably benign Het
Efr3b A G 12: 4,032,898 (GRCm39) V269A probably benign Het
Eprs1 G T 1: 185,126,653 (GRCm39) V530L possibly damaging Het
Eps8l2 A G 7: 140,922,860 (GRCm39) N41S probably damaging Het
Erbb4 T C 1: 68,435,470 (GRCm39) I142M probably damaging Het
Fhip1a T C 3: 85,637,868 (GRCm39) M144V probably damaging Het
Flnc A T 6: 29,457,445 (GRCm39) D2381V probably damaging Het
Fndc1 T A 17: 7,991,362 (GRCm39) D778V unknown Het
Galnt3 A G 2: 65,921,555 (GRCm39) I492T probably benign Het
Gigyf2 T C 1: 87,374,155 (GRCm39) M1261T probably damaging Het
Haus8 A G 8: 71,708,695 (GRCm39) F126S probably benign Het
Hif3a A G 7: 16,782,686 (GRCm39) L293S probably damaging Het
Ino80c G A 18: 24,239,707 (GRCm39) T200I unknown Het
Jag1 T A 2: 136,943,717 (GRCm39) M160L probably benign Het
Kcnj12 C A 11: 60,960,825 (GRCm39) H374Q probably damaging Het
Lrrc27 A G 7: 138,816,902 (GRCm39) I433M probably benign Het
Lyzl4 C T 9: 121,407,160 (GRCm39) W123* probably null Het
Map2k4 A T 11: 65,597,827 (GRCm39) C264S Het
Mmrn1 C T 6: 60,921,508 (GRCm39) probably benign Het
Mug1 C T 6: 121,850,631 (GRCm39) T709I probably benign Het
Myo9a T A 9: 59,781,931 (GRCm39) W1706R probably benign Het
Nlrp5 A G 7: 23,117,869 (GRCm39) E531G probably damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Pcdhb11 A C 18: 37,555,422 (GRCm39) I251L probably benign Het
Per3 A G 4: 151,113,270 (GRCm39) S353P probably damaging Het
Piezo1 T C 8: 123,213,750 (GRCm39) E1738G probably null Het
Prr14l T C 5: 32,988,508 (GRCm39) D329G probably benign Het
Ptpn23 G T 9: 110,217,267 (GRCm39) P863Q probably damaging Het
Ptpn23 G T 9: 110,217,268 (GRCm39) P863T possibly damaging Het
Ptprq T C 10: 107,479,896 (GRCm39) K1125E possibly damaging Het
Rapgef2 T G 3: 79,000,343 (GRCm39) T351P probably damaging Het
Rbl2 A G 8: 91,840,617 (GRCm39) Y923C probably damaging Het
Rimbp3 T C 16: 17,028,727 (GRCm39) V717A probably benign Het
Rims1 C T 1: 22,358,760 (GRCm39) W182* probably null Het
Rnmt A G 18: 68,440,723 (GRCm39) K129E probably benign Het
Ruvbl1 T C 6: 88,450,108 (GRCm39) F93S probably damaging Het
Sfxn5 T A 6: 85,244,921 (GRCm39) probably null Het
Skic2 A T 17: 35,068,975 (GRCm39) V8D probably benign Het
Slc12a1 T C 2: 125,028,234 (GRCm39) F510S probably damaging Het
Sowahb T C 5: 93,190,922 (GRCm39) Y599C probably damaging Het
Speer4e1 T C 5: 14,987,111 (GRCm39) N98S probably damaging Het
Stat3 T C 11: 100,784,807 (GRCm39) N553S probably benign Het
Sult6b2 A T 6: 142,735,868 (GRCm39) L242Q probably damaging Het
Tacc3 C T 5: 33,821,169 (GRCm39) R98W possibly damaging Het
Tuba4a C T 1: 75,193,595 (GRCm39) R112H Het
Ubr3 T A 2: 69,819,220 (GRCm39) S1337T probably damaging Het
Vmn2r69 A T 7: 85,055,713 (GRCm39) C808* probably null Het
Wnt16 G A 6: 22,288,997 (GRCm39) A105T probably benign Het
Zfp692 C T 11: 58,198,560 (GRCm39) S50L probably damaging Het
Other mutations in Scamp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02691:Scamp5 APN 9 57,358,660 (GRCm39) missense probably damaging 1.00
R1636:Scamp5 UTSW 9 57,358,692 (GRCm39) missense possibly damaging 0.80
R2119:Scamp5 UTSW 9 57,354,508 (GRCm39) missense possibly damaging 0.61
R2120:Scamp5 UTSW 9 57,354,508 (GRCm39) missense possibly damaging 0.61
R2124:Scamp5 UTSW 9 57,354,508 (GRCm39) missense possibly damaging 0.61
R2280:Scamp5 UTSW 9 57,352,722 (GRCm39) missense probably benign 0.18
R2906:Scamp5 UTSW 9 57,351,146 (GRCm39) missense probably damaging 1.00
R4766:Scamp5 UTSW 9 57,359,319 (GRCm39) critical splice acceptor site probably null
R4911:Scamp5 UTSW 9 57,358,735 (GRCm39) missense probably damaging 1.00
R5414:Scamp5 UTSW 9 57,354,507 (GRCm39) missense probably benign
R5698:Scamp5 UTSW 9 57,352,716 (GRCm39) missense possibly damaging 0.72
R5783:Scamp5 UTSW 9 57,353,353 (GRCm39) critical splice donor site probably null
R6520:Scamp5 UTSW 9 57,354,489 (GRCm39) splice site probably null
R7234:Scamp5 UTSW 9 57,354,423 (GRCm39) missense probably damaging 1.00
R7703:Scamp5 UTSW 9 57,354,465 (GRCm39) missense possibly damaging 0.89
R8905:Scamp5 UTSW 9 57,352,669 (GRCm39) missense probably benign 0.01
Z1177:Scamp5 UTSW 9 57,350,959 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTTCCCAGAGGACCCAAAG -3'
(R):5'- TAAGTTCTACCGGGGTAGCG -3'

Sequencing Primer
(F):5'- GGCAGGGATAGACATATACATATACG -3'
(R):5'- TAGCGGAGGCAGTTTCAGC -3'
Posted On 2020-06-30