Incidental Mutation 'IGL02190:Scp2'
ID283838
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: 0.140) question?
Stock #IGL02190
Quality Score
Status
Chromosome4
Chromosomal Location108043839-108144998 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108087128 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 237 (S237P)
Ref Sequence ENSEMBL: ENSMUSP00000030340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030340] [ENSMUST00000044248] [ENSMUST00000149106]
Predicted Effect probably benign
Transcript: ENSMUST00000030340
AA Change: S237P

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030340
Gene: ENSMUSG00000028603
AA Change: S237P

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: S193P

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121673
Gene: ENSMUSG00000028603
AA Change: S193P

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T C 5: 129,140,724 probably benign Het
AI314180 A T 4: 58,800,190 S1838R probably benign Het
Ano1 T C 7: 144,618,883 E521G probably benign Het
As3mt A T 19: 46,719,945 I224F probably benign Het
Atp5j2 C A 5: 145,183,832 probably benign Het
Cacna1h A G 17: 25,433,026 V48A probably benign Het
Ctu2 T C 8: 122,481,658 probably benign Het
Efcab5 T C 11: 77,121,314 R841G probably benign Het
Erbb3 A T 10: 128,571,010 probably null Het
Fkbp15 G T 4: 62,304,822 P947T possibly damaging Het
Gabpb1 A G 2: 126,653,549 probably benign Het
Gcn1l1 G T 5: 115,614,124 V2100L probably damaging Het
Gemin5 A C 11: 58,134,842 V977G probably damaging Het
Gpr107 T A 2: 31,178,320 Y265N probably damaging Het
Gpx8 T C 13: 113,043,309 probably benign Het
H2-Eb2 A T 17: 34,334,374 N178I probably damaging Het
Ift172 C T 5: 31,254,458 V1587I possibly damaging Het
Lrrc45 A G 11: 120,718,508 T398A probably damaging Het
Mmrn1 G T 6: 60,987,193 V1059L probably benign Het
Morn5 A G 2: 36,079,515 D147G probably benign Het
Mphosph9 T C 5: 124,265,425 R847G possibly damaging Het
Nutm1 C T 2: 112,249,406 W721* probably null Het
Olfr1136 A G 2: 87,693,063 M273T probably benign Het
Olfr347 T C 2: 36,734,579 L86P probably benign Het
Olfr531 T C 7: 140,400,120 probably benign Het
Rgl3 A G 9: 21,981,708 F227L probably benign Het
Ropn1l G T 15: 31,443,341 L182I probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scgb1a1 A T 19: 9,087,867 L12Q probably damaging Het
Skint5 T C 4: 113,940,765 Q207R possibly damaging Het
Slc16a5 A G 11: 115,462,609 M1V probably null Het
Tox2 G A 2: 163,323,006 R522H possibly damaging Het
Trip12 A T 1: 84,766,070 N505K probably damaging Het
Tuba1c G A 15: 99,037,989 D444N unknown Het
Vmn1r174 A G 7: 23,754,827 E306G unknown Het
Vmn2r111 A T 17: 22,570,773 F417L probably benign Het
Vmn2r15 A T 5: 109,293,374 M206K probably damaging Het
Vmn2r95 G T 17: 18,451,776 A592S probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Scp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Scp2 APN 4 108074442 splice site probably null
IGL02615:Scp2 APN 4 108107631 missense probably benign 0.40
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