Incidental Mutation 'IGL03107:Scp2'
ID 419013
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 # IGL03107
Quality Score
Status
Chromosome 4
Chromosomal Location 107901027-108002168 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107955312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 144 (I144F)
Ref Sequence ENSEMBL: ENSMUSP00000030340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030340] [ENSMUST00000044248] [ENSMUST00000130776] [ENSMUST00000149106]
AlphaFold P32020
Predicted Effect probably benign
Transcript: ENSMUST00000030340
AA Change: I144F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000030340
Gene: ENSMUSG00000028603
AA Change: I144F

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 probably benign
Transcript: ENSMUST00000130776
SMART Domains Protein: ENSMUSP00000123630
Gene: ENSMUSG00000028603

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: I100F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000121673
Gene: ENSMUSG00000028603
AA Change: I100F

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,702,518 (GRCm39) noncoding transcript Het
Angpt4 A G 2: 151,785,342 (GRCm39) M453V probably benign Het
Atr T A 9: 95,779,783 (GRCm39) D1380E probably benign Het
Carmil1 A T 13: 24,278,438 (GRCm39) M177K probably damaging Het
Cenpk T A 13: 104,379,280 (GRCm39) I203N probably damaging Het
Cerk A T 15: 86,027,014 (GRCm39) N165K probably benign Het
Col27a1 G A 4: 63,242,869 (GRCm39) probably benign Het
Crb2 A T 2: 37,681,428 (GRCm39) D757V probably benign Het
Csnk1a1 A G 18: 61,701,376 (GRCm39) D91G probably damaging Het
Dnajc6 G T 4: 101,474,057 (GRCm39) W486L probably damaging Het
Elmod1 C T 9: 53,841,507 (GRCm39) probably benign Het
Ercc3 G T 18: 32,381,360 (GRCm39) R392L possibly damaging Het
Fam135b C T 15: 71,335,410 (GRCm39) V595I probably benign Het
Fem1al T A 11: 29,774,360 (GRCm39) I366F probably damaging Het
Fermt1 A T 2: 132,775,059 (GRCm39) S256T probably damaging Het
Fstl5 G T 3: 76,443,618 (GRCm39) C321F probably damaging Het
Gpatch1 T G 7: 35,002,742 (GRCm39) N256T probably benign Het
Gpd2 T A 2: 57,245,581 (GRCm39) S425R probably damaging Het
Igkv4-57-1 T G 6: 69,521,574 (GRCm39) M43L probably benign Het
Itgae A G 11: 73,004,427 (GRCm39) Q238R probably damaging Het
Lats1 T A 10: 7,588,510 (GRCm39) D1042E probably benign Het
Lcn8 G A 2: 25,545,377 (GRCm39) G156D probably damaging Het
Loxl4 A C 19: 42,593,718 (GRCm39) V224G probably benign Het
Lrp2 T A 2: 69,285,177 (GRCm39) D3827V probably damaging Het
Neb C A 2: 52,073,837 (GRCm39) R231S probably benign Het
Or2g1 G A 17: 38,106,679 (GRCm39) V115I probably benign Het
Or5b105 A T 19: 13,080,401 (GRCm39) M89K probably benign Het
Or6c211 A G 10: 129,505,809 (GRCm39) M193T probably benign Het
Or6d13 T G 6: 116,517,900 (GRCm39) M162R possibly damaging Het
Or8g54 T G 9: 39,707,475 (GRCm39) M268R probably benign Het
Pappa T G 4: 65,122,940 (GRCm39) S758R probably damaging Het
Pced1a G A 2: 130,264,755 (GRCm39) T61I possibly damaging Het
Pik3cg T C 12: 32,250,594 (GRCm39) D731G probably damaging Het
Plxnb1 G A 9: 108,934,054 (GRCm39) D761N probably benign Het
Pmp22 T C 11: 63,049,135 (GRCm39) V126A probably benign Het
Ppp6r2 G T 15: 89,152,748 (GRCm39) R296S probably damaging Het
Prkcq A C 2: 11,265,597 (GRCm39) H438P probably damaging Het
Ryr1 T A 7: 28,774,624 (GRCm39) Y2339F probably damaging Het
Scaper T C 9: 55,765,686 (GRCm39) probably benign Het
Secisbp2 T C 13: 51,806,793 (GRCm39) probably null Het
Sema5a T A 15: 32,669,554 (GRCm39) Y693N probably damaging Het
Sin3b T A 8: 73,480,213 (GRCm39) I905K probably damaging Het
Slc13a3 T A 2: 165,279,227 (GRCm39) M195L probably benign Het
Strada A G 11: 106,054,863 (GRCm39) probably benign Het
Stx18 G A 5: 38,293,655 (GRCm39) V294M probably damaging Het
Tbpl2 A T 2: 23,983,845 (GRCm39) N197K probably benign Het
Tdrd9 A T 12: 112,009,274 (GRCm39) H1060L probably damaging Het
Tm4sf5 G A 11: 70,396,223 (GRCm39) V23M possibly damaging Het
Tmem54 C A 4: 129,004,705 (GRCm39) L187I probably damaging Het
Tmprss5 A G 9: 49,024,528 (GRCm39) H281R possibly damaging Het
Trim30c A G 7: 104,031,820 (GRCm39) Y332H possibly damaging Het
Uba6 T A 5: 86,275,633 (GRCm39) probably benign Het
Unc80 C A 1: 66,670,613 (GRCm39) P1912Q 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
IGL03006:Scp2 APN 4 107,948,477 (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