Incidental Mutation 'IGL03006:Scp2'
ID 407559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scp2
Ensembl Gene ENSMUSG00000028603
Gene Name sterol carrier protein 2, liver
Synonyms ns-LTP, SCPx, nonspecific lipid transfer protein, NSL-TP, SCP-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # IGL03006
Quality Score
Status
Chromosome 4
Chromosomal Location 107901027-108002168 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107948477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 167 (K167E)
Ref Sequence ENSEMBL: ENSMUSP00000121673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030340] [ENSMUST00000044248] [ENSMUST00000149106]
AlphaFold P32020
Predicted Effect probably benign
Transcript: ENSMUST00000030340
AA Change: K211E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030340
Gene: ENSMUSG00000028603
AA Change: K211E

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 probably benign
Transcript: ENSMUST00000044248
SMART Domains Protein: ENSMUSP00000048962
Gene: ENSMUSG00000028600

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 40 49 N/A INTRINSIC
LRRNT 68 101 4.34e-5 SMART
LRR_TYP 120 145 2.05e-2 SMART
LRR 146 169 1.19e1 SMART
LRR 192 216 2.84e1 SMART
LRR 239 261 6.22e0 SMART
LRR 262 287 3.47e0 SMART
LRR_TYP 288 311 7.9e-4 SMART
LRR 333 358 1.26e1 SMART
LRR 359 382 2.82e0 SMART
LRR 407 429 1.53e2 SMART
LRR_TYP 430 453 7.37e-4 SMART
LRR 475 500 1.66e1 SMART
LRR 501 522 1.29e1 SMART
LRR_TYP 523 545 7.67e-2 SMART
low complexity region 594 609 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143340
Predicted Effect probably benign
Transcript: ENSMUST00000149106
AA Change: K167E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121673
Gene: ENSMUSG00000028603
AA Change: K167E

DomainStartEndE-ValueType
SCOP:d1qfla1 14 202 2e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183919
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,718,671 (GRCm39) S21C probably damaging Het
2210408I21Rik T C 13: 77,471,891 (GRCm39) probably null Het
Abcc3 T C 11: 94,259,421 (GRCm39) D340G probably benign Het
Adamts17 G T 7: 66,728,095 (GRCm39) R879L possibly damaging Het
Adissp A C 2: 130,993,634 (GRCm39) D22E probably damaging Het
Cacna1f C A X: 7,493,142 (GRCm39) T1275K probably damaging Het
Csmd2 T A 4: 128,374,558 (GRCm39) probably benign Het
Dll1 C T 17: 15,593,854 (GRCm39) R171Q probably benign Het
Dnm1 T A 2: 32,243,133 (GRCm39) D30V possibly damaging Het
Fam184a G A 10: 53,574,793 (GRCm39) S216L probably damaging Het
Fbxo33 G A 12: 59,251,105 (GRCm39) A470V probably benign Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Ighv7-1 A T 12: 113,860,145 (GRCm39) S82R probably damaging Het
Klk1b4 A G 7: 43,861,019 (GRCm39) I221V probably benign Het
Lama3 T C 18: 12,601,425 (GRCm39) probably benign Het
Lrch1 A G 14: 75,051,060 (GRCm39) L359P probably damaging Het
Mapk8ip3 T C 17: 25,120,489 (GRCm39) T882A probably benign Het
Med12 C T X: 100,321,684 (GRCm39) R456W probably damaging Het
Mms22l T C 4: 24,521,253 (GRCm39) S267P probably damaging Het
Mtpap G A 18: 4,375,721 (GRCm39) G34R possibly damaging Het
Nf1 G A 11: 79,436,257 (GRCm39) D1966N probably damaging Het
Nlrp9c G A 7: 26,071,507 (GRCm39) T867I probably damaging Het
Nrap C T 19: 56,335,596 (GRCm39) V941I probably benign Het
Or5k1b T A 16: 58,581,511 (GRCm39) K9N probably benign Het
Pcdh10 A G 3: 45,333,937 (GRCm39) I84V probably damaging Het
Polr3d T A 14: 70,678,603 (GRCm39) probably null Het
Prkar2a G T 9: 108,617,640 (GRCm39) V233L probably benign Het
Prl4a1 T C 13: 28,207,359 (GRCm39) V211A probably damaging Het
Qpct T C 17: 79,378,151 (GRCm39) V107A probably benign Het
Rai1 T C 11: 60,079,031 (GRCm39) S1032P possibly damaging Het
Rims1 G T 1: 22,367,178 (GRCm39) T1113K probably damaging Het
Rxra C T 2: 27,649,657 (GRCm39) T454I probably damaging Het
S100z T C 13: 95,615,127 (GRCm39) I13V probably damaging Het
Sephs2 A G 7: 126,872,206 (GRCm39) F296L probably benign Het
Setd1b A G 5: 123,286,514 (GRCm39) E520G unknown Het
Slc28a2 G A 2: 122,283,019 (GRCm39) V308M possibly damaging Het
Smarcad1 T A 6: 65,060,873 (GRCm39) I451K probably benign Het
Tarbp1 C T 8: 127,170,881 (GRCm39) D1040N probably damaging Het
Tdrd6 T C 17: 43,936,323 (GRCm39) D1575G probably damaging Het
Tll1 T A 8: 64,527,251 (GRCm39) probably benign Het
Tsks A T 7: 44,600,198 (GRCm39) probably benign Het
Ttc1 A T 11: 43,636,147 (GRCm39) M32K probably benign Het
Txlnb C T 10: 17,714,723 (GRCm39) A385V probably damaging Het
Zc4h2 T C X: 94,687,019 (GRCm39) H98R probably damaging Het
Other mutations in Scp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Scp2 APN 4 107,931,639 (GRCm39) splice site probably null
IGL02190:Scp2 APN 4 107,944,325 (GRCm39) missense probably benign 0.22
IGL02615:Scp2 APN 4 107,964,828 (GRCm39) missense probably benign 0.40
IGL03107:Scp2 APN 4 107,955,312 (GRCm39) missense probably benign 0.00
IGL03124:Scp2 APN 4 107,921,103 (GRCm39) missense probably damaging 1.00
R0030:Scp2 UTSW 4 107,964,887 (GRCm39) critical splice acceptor site probably null
R0030:Scp2 UTSW 4 107,964,887 (GRCm39) critical splice acceptor site probably null
R0240:Scp2 UTSW 4 107,955,275 (GRCm39) missense probably benign 0.01
R0240:Scp2 UTSW 4 107,955,275 (GRCm39) missense probably benign 0.01
R1507:Scp2 UTSW 4 107,944,209 (GRCm39) frame shift probably null
R1861:Scp2 UTSW 4 107,948,518 (GRCm39) missense probably damaging 1.00
R2151:Scp2 UTSW 4 107,921,141 (GRCm39) missense probably benign
R3013:Scp2 UTSW 4 107,928,554 (GRCm39) missense probably damaging 1.00
R4127:Scp2 UTSW 4 107,921,181 (GRCm39) missense probably benign 0.00
R4271:Scp2 UTSW 4 107,942,408 (GRCm39) missense probably damaging 1.00
R4385:Scp2 UTSW 4 107,928,547 (GRCm39) missense probably damaging 1.00
R5046:Scp2 UTSW 4 107,928,488 (GRCm39) missense probably benign 0.07
R5345:Scp2 UTSW 4 107,912,776 (GRCm39) splice site probably null
R5401:Scp2 UTSW 4 108,001,976 (GRCm39) critical splice donor site probably null
R6367:Scp2 UTSW 4 107,969,447 (GRCm39) missense probably damaging 1.00
R6415:Scp2 UTSW 4 107,962,337 (GRCm39) missense probably benign 0.22
R6681:Scp2 UTSW 4 107,948,513 (GRCm39) missense probably damaging 1.00
R6910:Scp2 UTSW 4 107,962,283 (GRCm39) missense probably damaging 1.00
R6974:Scp2 UTSW 4 107,928,475 (GRCm39) start codon destroyed probably null 0.01
R7206:Scp2 UTSW 4 107,931,638 (GRCm39) missense probably benign 0.00
R7342:Scp2 UTSW 4 107,948,518 (GRCm39) missense probably benign 0.02
R8935:Scp2 UTSW 4 107,950,072 (GRCm39) missense probably damaging 0.98
R9035:Scp2 UTSW 4 107,912,717 (GRCm39) missense probably damaging 1.00
R9151:Scp2 UTSW 4 107,931,603 (GRCm39) missense possibly damaging 0.58
R9536:Scp2 UTSW 4 107,928,532 (GRCm39) missense possibly damaging 0.92
R9645:Scp2 UTSW 4 107,948,519 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02