Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02190:Scp2'

283838

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scp2

Ensembl Gene

ENSMUSG00000028603

Gene Name

sterol carrier protein 2, liver

Synonyms

NSL-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

Chromosome

Chromosomal Location

108043839-108144998 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108087128 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2015-04-16