Incidental Mutation 'IGL02615:Scp2'
ID300620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scp2
Ensembl Gene ENSMUSG00000028603
Gene Namesterol carrier protein 2, liver
SynonymsNSL-TP, nonspecific lipid transfer protein, SCPx, SCP-2, ns-LTP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL02615
Quality Score
Status
Chromosome4
Chromosomal Location108043839-108144998 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108107631 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 62 (V62A)
Ref Sequence ENSEMBL: ENSMUSP00000121673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030340] [ENSMUST00000130776] [ENSMUST00000149106]
Predicted Effect probably benign
Transcript: ENSMUST00000030340
AA Change: V62A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030340
Gene: ENSMUSG00000028603
AA Change: V62A

DomainStartEndE-ValueType
Pfam:Thiolase_N 14 240 9.6e-25 PFAM
Pfam:Thiolase_C 277 402 2.9e-15 PFAM
Pfam:SCP2 437 539 1.5e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123792
Predicted Effect probably benign
Transcript: ENSMUST00000130776
AA Change: V46A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000123630
Gene: ENSMUSG00000028603
AA Change: V46A

DomainStartEndE-ValueType
Pfam:Thiolase_N 9 110 2.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143340
Predicted Effect probably benign
Transcript: ENSMUST00000149106
AA Change: V62A

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121673
Gene: ENSMUSG00000028603
AA Change: V62A

DomainStartEndE-ValueType
SCOP:d1qfla1 14 202 2e-18 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for disruptions of this gene exhibit altered lipid levels and both males and females are sensitive to phytol-rich diets. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G T 5: 138,646,140 E96* probably null Het
Adck5 C T 15: 76,589,167 S72L possibly damaging Het
Afdn A G 17: 13,825,976 H404R probably benign Het
Aph1c A T 9: 66,819,406 V222E possibly damaging Het
Armc8 T C 9: 99,527,069 probably benign Het
Bcl2l13 A T 6: 120,862,867 D42V probably damaging Het
Bhlhe22 C T 3: 18,054,900 T38I possibly damaging Het
Ccdc51 A T 9: 109,089,435 T31S probably benign Het
Ctbp2 A G 7: 132,995,347 I669T probably benign Het
Dennd4c A G 4: 86,821,467 T998A probably benign Het
Dpp4 T C 2: 62,359,328 Y410C probably damaging Het
Gli2 T A 1: 118,844,398 N526Y probably damaging Het
Gm12394 C T 4: 42,793,027 M368I probably benign Het
Ighv1-64 A G 12: 115,507,687 I70T possibly damaging Het
Mphosph10 A T 7: 64,381,045 probably benign Het
Mrps34 A G 17: 24,895,793 probably null Het
Myo1f A T 17: 33,604,656 I1053L probably benign Het
Nckap5l G A 15: 99,429,382 P142L possibly damaging Het
Platr26 T A 2: 71,730,426 noncoding transcript Het
Rag2 T A 2: 101,629,568 Y74* probably null Het
Rnf213 A T 11: 119,440,789 M2275L probably damaging Het
Rsbn1 T A 3: 103,953,752 L498Q probably damaging Het
Spag17 A G 3: 100,072,085 I1421V probably benign Het
St6galnac4 A G 2: 32,594,204 H138R probably benign Het
Syne2 T A 12: 76,096,994 M1045K probably damaging Het
Tbxas1 C T 6: 39,027,866 T349M probably damaging Het
U2surp T G 9: 95,493,231 D146A probably benign Het
Usp38 T C 8: 80,985,151 M752V probably benign Het
Other mutations in Scp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Scp2 APN 4 108074442 intron probably null
IGL02190:Scp2 APN 4 108087128 missense probably benign 0.22
IGL03006:Scp2 APN 4 108091280 missense probably benign 0.00
IGL03107:Scp2 APN 4 108098115 missense probably benign 0.00
IGL03124:Scp2 APN 4 108063906 missense probably damaging 1.00
R0030:Scp2 UTSW 4 108107690 critical splice acceptor site probably null
R0030:Scp2 UTSW 4 108107690 critical splice acceptor site probably null
R0240:Scp2 UTSW 4 108098078 missense probably benign 0.01
R0240:Scp2 UTSW 4 108098078 missense probably benign 0.01
R1507:Scp2 UTSW 4 108087012 frame shift probably null
R1861:Scp2 UTSW 4 108091321 missense probably damaging 1.00
R2151:Scp2 UTSW 4 108063944 missense probably benign
R3013:Scp2 UTSW 4 108071357 missense probably damaging 1.00
R4127:Scp2 UTSW 4 108063984 missense probably benign 0.00
R4271:Scp2 UTSW 4 108085211 missense probably damaging 1.00
R4385:Scp2 UTSW 4 108071350 missense probably damaging 1.00
R5046:Scp2 UTSW 4 108071291 missense probably benign 0.07
R5345:Scp2 UTSW 4 108055579 splice site probably null
R5401:Scp2 UTSW 4 108144779 critical splice donor site probably null
R6367:Scp2 UTSW 4 108112250 missense probably damaging 1.00
R6415:Scp2 UTSW 4 108105140 missense probably benign 0.22
R6681:Scp2 UTSW 4 108091316 missense probably damaging 1.00
R6910:Scp2 UTSW 4 108105086 missense probably damaging 1.00
R6974:Scp2 UTSW 4 108071278 start codon destroyed probably null 0.01
R7206:Scp2 UTSW 4 108074441 missense probably benign 0.00
R7342:Scp2 UTSW 4 108091321 missense probably benign 0.02
Posted On2015-04-16