Mutagenetix > Incidental Mutation

Incidental Mutation 'R9645:Scp2'

726197

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

Accession Numbers

Essential gene?

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

Stock #

R9645 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107901027-108002168 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107948519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 197 (Y197N)

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: Y197N

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000030340
Gene: ENSMUSG00000028603
AA Change: Y197N

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

probably benign
Transcript: ENSMUST00000149106
AA Change: Y153N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000121673
Gene: ENSMUSG00000028603
AA Change: Y153N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	C	5: 138,644,793 (GRCm39)	V226A	probably benign	Het
Acan	G	T	7: 78,749,653 (GRCm39)	V1475F	probably benign	Het
Acin1	T	A	14: 54,901,913 (GRCm39)	R626S	probably benign	Het
Aff3	T	C	1: 38,249,121 (GRCm39)	K662R	probably damaging	Het
Ankrd11	C	T	8: 123,617,682 (GRCm39)	A2057T	probably benign	Het
Ano9	T	G	7: 140,687,388 (GRCm39)	N309T	probably benign	Het
Ap3d1	G	A	10: 80,545,062 (GRCm39)	S1092L	probably benign	Het
B4galt7	C	T	13: 55,756,556 (GRCm39)	H257Y	probably damaging	Het
BC051665	G	T	13: 60,932,545 (GRCm39)	Q47K	possibly damaging	Het
Brip1	A	G	11: 85,952,512 (GRCm39)	F1090L	probably benign	Het
Cabin1	A	G	10: 75,494,543 (GRCm39)	V1612A	probably benign	Het
Ccar1	A	T	10: 62,602,369 (GRCm39)	D434E	probably benign	Het
Ccdc15	T	C	9: 37,227,083 (GRCm39)	D297G	probably benign	Het
Celsr3	C	A	9: 108,704,691 (GRCm39)	Y391*	probably null	Het
Cfap52	A	G	11: 67,837,179 (GRCm39)	I194T	possibly damaging	Het
Ctif	T	C	18: 75,757,352 (GRCm39)	E67G	probably benign	Het
Cxcr6	T	C	9: 123,639,151 (GRCm39)	F58L	possibly damaging	Het
Cyp2c69	T	C	19: 39,869,593 (GRCm39)	E142G	probably damaging	Het
Dnah6	T	A	6: 73,115,750 (GRCm39)	R1549S	possibly damaging	Het
Duxf3	A	T	10: 58,066,803 (GRCm39)	H75Q	probably benign	Het
Ehbp1	A	T	11: 22,051,052 (GRCm39)	I500N	probably damaging	Het
F13a1	A	T	13: 37,082,154 (GRCm39)	S517T	probably benign	Het
Fbln7	C	T	2: 128,719,316 (GRCm39)	R38C	probably damaging	Het
Fn1	T	C	1: 71,667,629 (GRCm39)	N788S	probably benign	Het
Foxc1	A	T	13: 31,991,882 (GRCm39)	E231V	probably damaging	Het
Gal3st2b	T	C	1: 93,866,328 (GRCm39)	S10P	probably damaging	Het
Gm6899	G	A	11: 26,543,592 (GRCm39)	C53Y	unknown	Het
Hps3	T	C	3: 20,084,831 (GRCm39)	E119G	probably benign	Het
Impg2	A	G	16: 56,038,767 (GRCm39)	E135G	probably damaging	Het
Kalrn	G	A	16: 34,032,583 (GRCm39)	T1155M	probably benign	Het
Kcna6	G	A	6: 126,716,022 (GRCm39)	A289V	probably benign	Het
Kcnh5	T	C	12: 75,134,191 (GRCm39)	M453V	probably benign	Het
Krt222	A	G	11: 99,131,320 (GRCm39)	V75A	possibly damaging	Het
Lmtk3	A	T	7: 45,450,431 (GRCm39)	T1432S	unknown	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ltbp3	C	G	19: 5,802,099 (GRCm39)	N758K	probably damaging	Het
Map6d1	T	A	16: 20,055,377 (GRCm39)	H153L	possibly damaging	Het
Mefv	A	G	16: 3,528,782 (GRCm39)	L583P	probably damaging	Het
Mrps28	T	C	3: 8,867,389 (GRCm39)	T160A	probably damaging	Het
Mtcl2	T	C	2: 156,869,390 (GRCm39)	K1082E	probably damaging	Het
Muc6	T	C	7: 141,217,783 (GRCm39)	T2297A	possibly damaging	Het
Mx1	G	T	16: 97,253,409 (GRCm39)	D338E	probably benign	Het
Myom1	G	A	17: 71,399,204 (GRCm39)	R1120H	probably benign	Het
Nif3l1	T	C	1: 58,487,074 (GRCm39)	F87L	probably benign	Het
Or1e35	T	A	11: 73,797,713 (GRCm39)	M202L	probably benign	Het
Or4p22	T	C	2: 88,317,373 (GRCm39)	V99A	possibly damaging	Het
Pex10	T	A	4: 155,153,264 (GRCm39)	L111Q	probably damaging	Het
Phf1	T	C	17: 27,154,130 (GRCm39)		probably null	Het
Pigp	A	T	16: 94,166,278 (GRCm39)	Y143*	probably null	Het
Pou2af2	A	G	9: 51,229,579 (GRCm39)		probably null	Het
Prrc2a	A	G	17: 35,381,176 (GRCm39)		probably null	Het
Psd	GCC	GC	19: 46,301,841 (GRCm39)		probably null	Het
Pum3	A	G	19: 27,403,412 (GRCm39)	S30P	probably benign	Het
Rab12	A	G	17: 66,826,421 (GRCm39)	S97P	probably damaging	Het
Rigi	T	C	4: 40,220,437 (GRCm39)	E482G	possibly damaging	Het
Ros1	A	G	10: 51,948,148 (GRCm39)		probably null	Het
Serpinb10	T	C	1: 107,474,488 (GRCm39)	F217L	possibly damaging	Het
Shank3	T	G	15: 89,409,453 (GRCm39)	M604R	possibly damaging	Het
Slc22a29	A	G	19: 8,184,488 (GRCm39)	S238P	probably benign	Het
Smarcc1	A	G	9: 109,986,410 (GRCm39)	D237G	probably damaging	Het
Stag3	T	C	5: 138,299,701 (GRCm39)	S871P	possibly damaging	Het
Tmem132d	A	G	5: 128,346,075 (GRCm39)	F149S	probably damaging	Het
Tmem25	C	T	9: 44,706,515 (GRCm39)	E333K		Het
Togaram1	T	A	12: 65,066,082 (GRCm39)	Y1695*	probably null	Het
Tox3	G	A	8: 90,984,574 (GRCm39)	P202S	probably damaging	Het
Trim34b	T	A	7: 103,980,474 (GRCm39)	N187K	probably benign	Het
Vcan	A	G	13: 89,841,081 (GRCm39)	S1488P	probably benign	Het
Vps26a	A	C	10: 62,305,791 (GRCm39)	V124G	probably benign	Het
Vps50	T	G	6: 3,516,706 (GRCm39)	S63A	possibly damaging	Het
Wbp4	T	A	14: 79,707,553 (GRCm39)	E186V	possibly damaging	Het
Zfp52	A	G	17: 21,781,937 (GRCm39)	D595G	possibly damaging	Het
Zfr2	C	A	10: 81,084,252 (GRCm39)	S1*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GGCCAGTCTATAGAAGCTGCAG -3'
(R):5'- AGCATGCAAGGTCACAGTTC -3'

Sequencing Primer
(F):5'- TCTATAGAAGCTGCAGAGACATC -3'
(R):5'- CACTTTGTAGACCAGGCT -3'

Posted On

2022-09-12