Mutagenetix > Incidental Mutation

Incidental Mutation 'R6415:Scp2'

517851

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

044557-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R6415 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107901027-108002168 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107962337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 63 (S63R)

Ref Sequence

ENSEMBL: ENSMUSP00000123630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030340] [ENSMUST00000130776] [ENSMUST00000149106]

AlphaFold

P32020

Predicted Effect

probably benign
Transcript: ENSMUST00000030340
AA Change: S79R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000030340
Gene: ENSMUSG00000028603
AA Change: S79R

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

noncoding transcript
Transcript: ENSMUST00000123792

Predicted Effect

probably benign
Transcript: ENSMUST00000130776
AA Change: S63R

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123630
Gene: ENSMUSG00000028603
AA Change: S63R

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000121673
Gene: ENSMUSG00000028603

Domain	Start	End	E-Value	Type
SCOP:d1qfla1	14	202	2e-18	SMART

Meta Mutation Damage Score

0.1101

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,881,296 (GRCm39)	T482M	probably benign	Het
Adam9	A	G	8: 25,468,498 (GRCm39)	Y513H	probably damaging	Het
Adamts20	C	T	15: 94,222,540 (GRCm39)		probably null	Het
B3gnt5	A	G	16: 19,588,759 (GRCm39)	D326G	probably damaging	Het
Cacna1g	A	G	11: 94,354,243 (GRCm39)	I224T	probably damaging	Het
Ccdc18	A	G	5: 108,309,612 (GRCm39)	I402M	probably benign	Het
Cckar	A	T	5: 53,860,398 (GRCm39)	C73S	probably damaging	Het
Cdk13	C	T	13: 17,913,739 (GRCm39)	R880H	probably damaging	Het
Col1a1	A	G	11: 94,830,986 (GRCm39)	N218D	unknown	Het
Csnk1g2	T	C	10: 80,474,130 (GRCm39)	I145T	possibly damaging	Het
Cul5	T	C	9: 53,557,983 (GRCm39)	D207G	probably benign	Het
Cyp2c69	A	G	19: 39,831,365 (GRCm39)	F483L	probably benign	Het
Ddx60	A	G	8: 62,436,939 (GRCm39)	D963G	probably benign	Het
Dhx8	G	T	11: 101,628,513 (GRCm39)	A142S	unknown	Het
Dock7	C	T	4: 98,880,685 (GRCm39)	R926Q	probably damaging	Het
Dscaml1	C	T	9: 45,594,975 (GRCm39)	Q693*	probably null	Het
Dysf	G	A	6: 84,117,024 (GRCm39)	C1234Y	probably damaging	Het
Ercc1	G	A	7: 19,089,102 (GRCm39)		probably null	Het
Fam91a1	T	C	15: 58,314,766 (GRCm39)	L549P	probably damaging	Het
Fxyd2	T	A	9: 45,314,592 (GRCm39)	Y5N	possibly damaging	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Gpr182	T	A	10: 127,586,375 (GRCm39)	D192V	possibly damaging	Het
Gps1	T	C	11: 120,678,548 (GRCm39)	V286A	possibly damaging	Het
Grk1	A	G	8: 13,463,127 (GRCm39)	Y383C	probably damaging	Het
H2bc15	T	C	13: 21,938,656 (GRCm39)	Y122H	probably benign	Het
Hic1	G	A	11: 75,057,143 (GRCm39)	P582L	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Khdc4	T	C	3: 88,607,279 (GRCm39)	F328L	probably benign	Het
Lactb	T	C	9: 66,877,927 (GRCm39)	K301E	possibly damaging	Het
Lrp3	A	T	7: 34,903,593 (GRCm39)	V251E	probably benign	Het
Mapt	G	A	11: 104,189,824 (GRCm39)	G265S	probably benign	Het
Obscn	A	T	11: 58,925,956 (GRCm39)	D6245E	probably damaging	Het
Or10al2	G	T	17: 37,983,448 (GRCm39)	C178F	possibly damaging	Het
Or1j12	A	G	2: 36,342,617 (GRCm39)	S7G	probably damaging	Het
Or4b1c	T	A	2: 90,126,381 (GRCm39)	I275F	probably damaging	Het
Or4c10b	T	C	2: 89,711,206 (GRCm39)	L12P	probably damaging	Het
Or6c207	T	C	10: 129,104,890 (GRCm39)	T101A	probably benign	Het
Or7e165	T	A	9: 19,695,044 (GRCm39)	I205N	probably damaging	Het
Or7g19	T	C	9: 18,856,415 (GRCm39)	L157P	probably damaging	Het
Oxsm	A	T	14: 16,241,904 (GRCm38)	H288Q	probably benign	Het
Pcdh9	C	T	14: 93,253,278 (GRCm39)	M1128I	possibly damaging	Het
Pcdha8	T	C	18: 37,127,614 (GRCm39)	Y699H	probably damaging	Het
Pgk2	A	T	17: 40,518,459 (GRCm39)	I323N	probably benign	Het
Plin4	A	G	17: 56,410,264 (GRCm39)	V1216A	probably damaging	Het
Ppargc1a	T	C	5: 51,620,176 (GRCm39)		probably benign	Het
Prelp	A	T	1: 133,840,516 (GRCm39)	I322N	probably benign	Het
Prelp	A	T	1: 133,842,395 (GRCm39)	I250N	probably damaging	Het
Prss27	T	A	17: 24,261,882 (GRCm39)	C63*	probably null	Het
Rab38	G	A	7: 88,079,748 (GRCm39)	A47T	possibly damaging	Het
Rprd2	G	A	3: 95,681,531 (GRCm39)	A436V	probably benign	Het
Sacs	A	T	14: 61,442,808 (GRCm39)	N1618I	probably damaging	Het
Sftpb	T	G	6: 72,281,633 (GRCm39)	W9G	probably damaging	Het
Slco1a4	A	T	6: 141,780,415 (GRCm39)	L125*	probably null	Het
Sptlc1	T	C	13: 53,505,728 (GRCm39)		probably null	Het
Sub1	T	A	15: 11,986,560 (GRCm39)	M96L	probably benign	Het
Tanc1	T	C	2: 59,667,458 (GRCm39)	V1233A	probably benign	Het
Tmem140	A	T	6: 34,849,658 (GRCm39)	D58V	probably damaging	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Tpt1	T	C	14: 76,083,811 (GRCm39)	Y91H	probably benign	Het
Trap1	C	T	16: 3,861,856 (GRCm39)	R636H	possibly damaging	Het
Ttc14	A	G	3: 33,857,724 (GRCm39)	H275R	possibly damaging	Het
Tut7	T	A	13: 59,964,110 (GRCm39)		probably null	Het
Vps35l	T	C	7: 118,391,869 (GRCm39)	W494R	probably damaging	Het
Ypel1	A	G	16: 16,921,438 (GRCm39)		probably null	Het
Zbtb44	T	A	9: 30,975,510 (GRCm39)	I380N	possibly damaging	Het
Zswim5	T	C	4: 116,838,063 (GRCm39)	F798L	possibly damaging	Het

Other mutations in Scp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CTGGAAAGAAAGCTCAGTGGTT -3'
(R):5'- AGGTCGTAGCGCATCACTGT -3'

Sequencing Primer
(F):5'- TCTGTAAATCCAGTCCCAGGAGATTC -3'
(R):5'- GTAGCGCATCACTGTCCTGC -3'

Posted On

2018-05-24