Mutagenetix > Incidental Mutation

Incidental Mutation 'R8935:Scp2'

680559

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

068778-MU

Accession Numbers

Essential gene?

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

Stock #

R8935 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107901027-108002168 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107950072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 179 (E179G)

Ref Sequence

ENSEMBL: ENSMUSP00000030340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030340] [ENSMUST00000044248] [ENSMUST00000149106]

AlphaFold

P32020

Predicted Effect

probably damaging
Transcript: ENSMUST00000030340
AA Change: E179G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030340
Gene: ENSMUSG00000028603
AA Change: E179G

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

SMART Domains

Protein: ENSMUSP00000121673
Gene: ENSMUSG00000028603
AA Change: E135G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	G	T	8: 117,698,181 (GRCm39)	Q309K	probably benign	Het
Adam20	T	C	8: 41,247,989 (GRCm39)	V33A	probably benign	Het
Ank	T	C	15: 27,591,112 (GRCm39)	V417A	probably damaging	Het
Arhgef17	C	T	7: 100,527,324 (GRCm39)	V779I	probably benign	Het
Atp6v0a1	T	A	11: 100,929,519 (GRCm39)	F440I	possibly damaging	Het
Brca2	T	G	5: 150,492,446 (GRCm39)	S3154A	possibly damaging	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Cep128	C	T	12: 91,233,770 (GRCm39)	E433K	probably damaging	Het
Cep192	C	T	18: 67,995,543 (GRCm39)	T970I	probably damaging	Het
Chd2	T	C	7: 73,153,210 (GRCm39)	T249A	possibly damaging	Het
Cpd	C	T	11: 76,731,295 (GRCm39)	G304S	probably damaging	Het
Cpsf7	T	A	19: 10,509,345 (GRCm39)	Y85*	probably null	Het
Csf3r	T	A	4: 125,937,200 (GRCm39)	S695T	probably benign	Het
Cyp20a1	A	G	1: 60,410,473 (GRCm39)	Q258R	probably damaging	Het
Ddi2	A	T	4: 141,412,600 (GRCm39)	L104Q	probably damaging	Het
Dpp8	T	C	9: 64,983,066 (GRCm39)	S733P	possibly damaging	Het
Efhd1	A	G	1: 87,217,219 (GRCm39)	D112G	probably damaging	Het
Elapor2	C	T	5: 9,491,764 (GRCm39)	T708M	probably damaging	Het
Fgfr3	A	C	5: 33,892,810 (GRCm39)	D752A	probably damaging	Het
Fmod	C	A	1: 133,968,586 (GRCm39)	H209N	probably benign	Het
Gde1	C	T	7: 118,297,914 (GRCm39)	E101K	possibly damaging	Het
Gldc	C	T	19: 30,109,093 (GRCm39)	R615Q	probably benign	Het
Gli2	T	C	1: 118,764,122 (GRCm39)	E1343G	probably damaging	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm4847	A	G	1: 166,469,789 (GRCm39)	Y95H	probably damaging	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Gtpbp3	A	G	8: 71,945,181 (GRCm39)		probably null	Het
Haspin	A	G	11: 73,026,890 (GRCm39)	F733S	probably damaging	Het
Hgh1	C	G	15: 76,254,592 (GRCm39)	R323G	probably damaging	Het
Idh1	A	T	1: 65,204,378 (GRCm39)	I244N	probably damaging	Het
Idh2	T	C	7: 79,764,946 (GRCm39)	T27A	probably benign	Het
Igkv4-69	T	C	6: 69,260,912 (GRCm39)	T72A	possibly damaging	Het
Lmntd1	A	G	6: 145,489,229 (GRCm39)	Y11H	probably benign	Het
Myt1l	T	C	12: 29,877,243 (GRCm39)	M298T	unknown	Het
Neb	T	C	2: 52,141,780 (GRCm39)	D3009G	probably damaging	Het
Nfya	A	T	17: 48,700,294 (GRCm39)		probably benign	Het
Nsun2	A	G	13: 69,767,586 (GRCm39)	D180G	probably damaging	Het
Or10ag60	A	G	2: 87,438,421 (GRCm39)	T230A	possibly damaging	Het
Or4k50-ps1	A	T	2: 111,522,244 (GRCm39)	Q127L	unknown	Het
Osbpl6	T	C	2: 76,379,800 (GRCm39)	V130A	possibly damaging	Het
Prss44	T	A	9: 110,645,527 (GRCm39)	I94N	probably damaging	Het
Rbm6	C	T	9: 107,677,945 (GRCm39)	V15I	probably benign	Het
Rdh19	C	T	10: 127,685,929 (GRCm39)	L14F	possibly damaging	Het
Rtkn	T	C	6: 83,115,196 (GRCm39)	L14P	probably damaging	Het
Ryr3	A	T	2: 112,508,402 (GRCm39)	N3405K	probably benign	Het
Sema3e	A	T	5: 14,282,127 (GRCm39)	K421I	probably damaging	Het
Sorcs2	C	T	5: 36,193,202 (GRCm39)	V755M	possibly damaging	Het
Spef2	T	C	15: 9,607,436 (GRCm39)	I1328V	probably damaging	Het
Speg	A	T	1: 75,399,250 (GRCm39)	K2232N	probably benign	Het
St7l	A	G	3: 104,778,204 (GRCm39)	I114V	probably damaging	Het
Stkld1	C	T	2: 26,833,941 (GRCm39)	Q143*	probably null	Het
Stox2	T	C	8: 47,645,895 (GRCm39)	T586A	possibly damaging	Het
Supt20	A	G	3: 54,634,988 (GRCm39)		probably null	Het
Tectb	G	T	19: 55,183,132 (GRCm39)	V338L	probably benign	Het
Tiam1	T	C	16: 89,681,821 (GRCm39)	N386D	probably damaging	Het
Trps1	G	A	15: 50,752,344 (GRCm39)	Q2*	probably null	Het
Usp36	C	T	11: 118,167,657 (GRCm39)		probably null	Het
Vmn1r198	C	T	13: 22,539,092 (GRCm39)	Q104*	probably null	Het
Vmn1r38	T	C	6: 66,753,979 (GRCm39)	T46A	probably benign	Het
Vmn2r110	A	G	17: 20,803,957 (GRCm39)	V206A	probably benign	Het
Vmn2r62	T	A	7: 42,437,791 (GRCm39)	D231V	probably benign	Het
Zfp143	T	C	7: 109,669,736 (GRCm39)	L55P	probably 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
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
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'- ACAACATGTGATTTGGGTACAAGTC -3'
(R):5'- CTATGGCTAAGGCTGTATTTTCTAG -3'

Sequencing Primer
(F):5'- CATATTACATGGTAGGCCAG -3'
(R):5'- AGGCTGTATTTTCTAGTTTTTGAAGC -3'

Posted On

2021-08-31