Incidental Mutation 'R2906:Scamp5'
ID 261660
Institutional Source Beutler Lab
Gene Symbol Scamp5
Ensembl Gene ENSMUSG00000040722
Gene Name secretory carrier membrane protein 5
Synonyms Sc5
MMRRC Submission 040493-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2906 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 57348610-57375343 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57351146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 172 (V172A)
Ref Sequence ENSEMBL: ENSMUSP00000150867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046587] [ENSMUST00000085709] [ENSMUST00000213771] [ENSMUST00000214065] [ENSMUST00000214144] [ENSMUST00000214166] [ENSMUST00000215734] [ENSMUST00000214256] [ENSMUST00000215299] [ENSMUST00000216365] [ENSMUST00000214624] [ENSMUST00000214339] [ENSMUST00000215883]
AlphaFold Q9JKD3
Predicted Effect probably damaging
Transcript: ENSMUST00000046587
AA Change: V172A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035898
Gene: ENSMUSG00000040722
AA Change: V172A

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 benign
Transcript: ENSMUST00000215734
Predicted Effect probably damaging
Transcript: ENSMUST00000214256
AA Change: V172A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000215299
Predicted Effect probably benign
Transcript: ENSMUST00000216365
Predicted Effect probably benign
Transcript: ENSMUST00000214624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215208
Predicted Effect probably benign
Transcript: ENSMUST00000214339
Predicted Effect probably benign
Transcript: ENSMUST00000215883
Meta Mutation Damage Score 0.7152 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 97% (37/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Adgrg6 A G 10: 14,308,694 (GRCm39) I800T probably benign Het
Afg3l2 G A 18: 67,573,292 (GRCm39) T170M probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Cd96 T C 16: 45,871,850 (GRCm39) T432A possibly damaging Het
Col13a1 T C 10: 61,696,267 (GRCm39) probably benign Het
Ddx4 G T 13: 112,757,311 (GRCm39) probably benign Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Duoxa1 C T 2: 122,135,155 (GRCm39) V197M probably benign Het
Gm6430 A T 1: 96,952,554 (GRCm39) noncoding transcript Het
Gtf2a1l G A 17: 89,002,083 (GRCm39) R313H possibly damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Lax1 A T 1: 133,616,643 (GRCm39) M1K probably null Het
Lce1k T C 3: 92,713,882 (GRCm39) S101G unknown Het
Med12l T C 3: 59,164,503 (GRCm39) L1365P probably damaging Het
Mtx2 T C 2: 74,697,253 (GRCm39) S83P probably damaging Het
Naip2 A C 13: 100,298,504 (GRCm39) C511G probably damaging Het
Nefh A G 11: 4,890,216 (GRCm39) I801T probably benign Het
Or8g24 A G 9: 38,989,669 (GRCm39) V124A probably benign Het
Oxct2b A G 4: 123,010,823 (GRCm39) I248V probably benign Het
Pcdhgb2 A T 18: 37,823,908 (GRCm39) I300F probably damaging Het
Ptprc G A 1: 137,992,272 (GRCm39) A1285V possibly damaging Het
Rassf3 A G 10: 121,250,297 (GRCm39) L172P probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Rpusd1 T C 17: 25,949,705 (GRCm39) S292P probably benign Het
Snx25 T C 8: 46,502,560 (GRCm39) probably null Het
Tmprss11g A G 5: 86,640,661 (GRCm39) probably benign Het
Ttll3 G C 6: 113,369,471 (GRCm39) probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Usp45 T A 4: 21,834,338 (GRCm39) Y805* probably null Het
Zfp639 T C 3: 32,573,900 (GRCm39) L175P probably damaging Het
Zfp995 T C 17: 22,099,247 (GRCm39) D329G probably benign 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
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
R8071:Scamp5 UTSW 9 57,350,969 (GRCm39) missense probably damaging 1.00
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'- TTGGGAGTGGCAGAATACTG -3'
(R):5'- TGTTTCCTGAATAGCTGCCC -3'

Sequencing Primer
(F):5'- CAGAATACTGAGTCTGCGGTTGATTC -3'
(R):5'- GAAGAATTACGTGCCATTGTCTCC -3'
Posted On 2015-01-23