Incidental Mutation 'R7342:Scp2'
ID 569918
Institutional Source Beutler Lab
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
MMRRC Submission 045432-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.279) question?
Stock # R7342 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 107901027-108002168 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107948518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 197 (Y197F)
Ref Sequence ENSEMBL: ENSMUSP00000030340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030340] [ENSMUST00000044248] [ENSMUST00000149106]
AlphaFold P32020
Predicted Effect probably benign
Transcript: ENSMUST00000030340
AA Change: Y197F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000030340
Gene: ENSMUSG00000028603
AA Change: Y197F

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 probably benign
Transcript: ENSMUST00000149106
AA Change: Y153F

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000121673
Gene: ENSMUSG00000028603
AA Change: Y153F

DomainStartEndE-ValueType
SCOP:d1qfla1 14 202 2e-18 SMART
Meta Mutation Damage Score 0.1703 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T G 11: 101,308,018 (GRCm39) T28P probably benign Het
Abcc1 C A 16: 14,283,033 (GRCm39) R1170S probably damaging Het
Adam8 T C 7: 139,566,304 (GRCm39) N568S probably benign Het
Arhgap17 T C 7: 122,926,467 (GRCm39) R65G probably damaging Het
Arid4b A C 13: 14,310,804 (GRCm39) I136L probably benign Het
Ash1l G T 3: 88,873,304 (GRCm39) G29V possibly damaging Het
Atp6v0a2 A G 5: 124,784,676 (GRCm39) T320A probably damaging Het
B4gat1 G A 19: 5,089,686 (GRCm39) V228M probably benign Het
Calcr T A 6: 3,691,536 (GRCm39) H450L probably benign Het
Cand1 A T 10: 119,047,692 (GRCm39) N599K possibly damaging Het
Cblif A T 19: 11,740,587 (GRCm39) H407L probably benign Het
Cel A T 2: 28,450,649 (GRCm39) Y125* probably null Het
Cfi T A 3: 129,668,781 (GRCm39) N602K probably damaging Het
Clstn1 G A 4: 149,713,887 (GRCm39) A190T probably damaging Het
Cmklr1 C T 5: 113,752,354 (GRCm39) V216M probably benign Het
Cntnap5a A G 1: 115,987,852 (GRCm39) T128A probably benign Het
Creld2 A G 15: 88,710,610 (GRCm39) T342A probably benign Het
Ctbp2 T C 7: 132,616,041 (GRCm39) E298G probably damaging Het
Ctsh A T 9: 89,957,040 (GRCm39) E307V probably benign Het
Cxcl10 T A 5: 92,496,029 (GRCm39) D36V probably benign Het
Dgkb A G 12: 38,150,432 (GRCm39) T73A probably benign Het
Dnah3 T G 7: 119,629,208 (GRCm39) E1449A probably damaging Het
Dpp6 T C 5: 27,919,552 (GRCm39) M683T probably benign Het
Foxn4 C A 5: 114,396,760 (GRCm39) W241L probably damaging Het
Gosr1 T C 11: 76,621,033 (GRCm39) I219V probably benign Het
Gtf2f2 T C 14: 76,144,317 (GRCm39) D179G probably damaging Het
Ighg2b A G 12: 113,270,050 (GRCm39) Y323H Het
Itpr2 A T 6: 146,228,685 (GRCm39) H1303Q probably damaging Het
Kif1b A C 4: 149,298,547 (GRCm39) Y1040D possibly damaging Het
Lbr C T 1: 181,653,186 (GRCm39) probably null Het
Lrp2 A G 2: 69,309,634 (GRCm39) V2755A possibly damaging Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Lrrcc1 T A 3: 14,619,431 (GRCm39) C606S probably benign Het
Macf1 T C 4: 123,275,917 (GRCm39) E6217G probably damaging Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo9b T C 8: 71,808,418 (GRCm39) V1687A probably damaging Het
Naip2 A T 13: 100,325,864 (GRCm39) F15I probably benign Het
Neb A T 2: 52,171,679 (GRCm39) S1605T probably damaging Het
Nuak1 T C 10: 84,210,831 (GRCm39) E419G probably damaging Het
Or14a260 G A 7: 85,985,295 (GRCm39) T103I probably benign Het
Or8c18 A G 9: 38,203,574 (GRCm39) Y111C probably damaging Het
Paip2b T A 6: 83,791,808 (GRCm39) S25C probably damaging Het
Pgbd5 G A 8: 125,160,709 (GRCm39) R53C probably benign Het
Plin4 T C 17: 56,411,608 (GRCm39) T808A probably benign Het
Pramel11 A T 4: 143,623,520 (GRCm39) I218K probably benign Het
Prex2 A G 1: 11,232,549 (GRCm39) D872G probably benign Het
Ptf1a A G 2: 19,451,977 (GRCm39) *325W probably null Het
Ptprg T C 14: 12,237,151 (GRCm38) V1390A possibly damaging Het
Rhpn2 A G 7: 35,033,771 (GRCm39) T2A probably damaging Het
Rpl18a T C 8: 71,348,042 (GRCm39) N214D unknown Het
Sftpb G A 6: 72,286,858 (GRCm39) R254H probably benign Het
Slc17a9 T C 2: 180,378,555 (GRCm39) L246P probably damaging Het
Slc38a9 G T 13: 112,806,125 (GRCm39) probably benign Het
Slc4a1ap C T 5: 31,693,634 (GRCm39) L523F possibly damaging Het
Spats2l C A 1: 57,925,106 (GRCm39) T168K possibly damaging Het
Sstr1 A G 12: 58,260,456 (GRCm39) S360G possibly damaging Het
Taf1b A T 12: 24,608,343 (GRCm39) K581* probably null Het
Tfip11 T A 5: 112,475,838 (GRCm39) M1K probably null Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Ttc23l G A 15: 10,551,583 (GRCm39) H48Y probably benign Het
Uggt2 T A 14: 119,232,384 (GRCm39) H1489L possibly damaging Het
Unc13b T C 4: 43,258,703 (GRCm39) L1346P probably damaging Het
Vmac T C 17: 57,022,644 (GRCm39) E122G probably benign Het
Vmn2r125 T C 4: 156,703,138 (GRCm39) V172A probably damaging Het
Zfp54 A G 17: 21,648,014 (GRCm39) probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CCAGTCTATAGAAGCTGCAGAGAC -3'
(R):5'- GAGCATGCAAGGTCACAGTTC -3'

Sequencing Primer
(F):5'- CTGCAGAGACATCATAAAGGTTAGCC -3'
(R):5'- ACTTTGTAGACCAGGCTG -3'
Posted On 2019-09-13