Incidental Mutation 'R6367:Scp2'
| ID |
512737 |
| 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 |
044517-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R6367 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
107901027-108002168 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107969447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 35
(Y35F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030340]
[ENSMUST00000130776]
[ENSMUST00000149106]
|
| AlphaFold |
P32020 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030340
AA Change: Y35F
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030340
Gene: ENSMUSG00000028603
AA Change: Y35F
| 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 damaging
Transcript: ENSMUST00000130776
AA Change: Y19F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123630
Gene: ENSMUSG00000028603
AA Change: Y19F
| 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 damaging
Transcript: ENSMUST00000149106
AA Change: Y35F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121673
Gene: ENSMUSG00000028603
AA Change: Y35F
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qfla1
|
14 |
202 |
2e-18 |
SMART |
|
| Meta Mutation Damage Score |
0.2597 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
98% (44/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,166,248 (GRCm39) |
N54D |
possibly damaging |
Het |
| Abca4 |
A |
C |
3: 121,897,229 (GRCm39) |
Q636P |
probably damaging |
Het |
| Agk |
T |
C |
6: 40,363,875 (GRCm39) |
F285S |
probably benign |
Het |
| Als2 |
C |
A |
1: 59,238,299 (GRCm39) |
V678L |
probably benign |
Het |
| Arhgap17 |
T |
C |
7: 122,907,586 (GRCm39) |
*231W |
probably null |
Het |
| Atp11b |
A |
G |
3: 35,838,686 (GRCm39) |
T89A |
probably damaging |
Het |
| Axl |
A |
T |
7: 25,486,858 (GRCm39) |
C50S |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,860,167 (GRCm39) |
D1246G |
probably damaging |
Het |
| Dip2b |
A |
T |
15: 100,013,795 (GRCm39) |
Q57L |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,582,951 (GRCm39) |
|
probably null |
Het |
| Enpep |
G |
T |
3: 129,125,730 (GRCm39) |
T134N |
possibly damaging |
Het |
| Ets1 |
C |
T |
9: 32,645,256 (GRCm39) |
Q168* |
probably null |
Het |
| Fanci |
T |
C |
7: 79,075,943 (GRCm39) |
C529R |
probably damaging |
Het |
| Fbxw28 |
A |
G |
9: 109,168,599 (GRCm39) |
|
probably null |
Het |
| Gucy2c |
C |
T |
6: 136,686,776 (GRCm39) |
E796K |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,821 (GRCm39) |
W62* |
probably null |
Het |
| Kcng1 |
C |
A |
2: 168,104,572 (GRCm39) |
V425L |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,493,422 (GRCm39) |
S463P |
probably damaging |
Het |
| Lrba |
G |
C |
3: 86,275,869 (GRCm39) |
A1746P |
probably benign |
Het |
| Mgat4c |
G |
T |
10: 102,221,015 (GRCm39) |
|
probably null |
Het |
| Nckap1l |
G |
A |
15: 103,384,149 (GRCm39) |
M582I |
probably benign |
Het |
| Oacyl |
G |
T |
18: 65,858,515 (GRCm39) |
R207L |
probably damaging |
Het |
| Or12e13 |
T |
C |
2: 87,663,937 (GRCm39) |
C185R |
probably damaging |
Het |
| Or2m12 |
C |
T |
16: 19,104,822 (GRCm39) |
V224M |
probably damaging |
Het |
| Or4c52 |
A |
G |
2: 89,845,360 (GRCm39) |
I29V |
probably benign |
Het |
| Or51f5 |
C |
A |
7: 102,424,036 (GRCm39) |
Q102K |
possibly damaging |
Het |
| Pacsin2 |
C |
T |
15: 83,266,033 (GRCm39) |
A55T |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,367,016 (GRCm39) |
D208G |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,501,663 (GRCm39) |
D1181G |
probably benign |
Het |
| Safb |
A |
G |
17: 56,900,845 (GRCm39) |
|
probably benign |
Het |
| Secisbp2 |
A |
G |
13: 51,836,177 (GRCm39) |
Y757C |
probably damaging |
Het |
| Sp110 |
C |
T |
1: 85,522,013 (GRCm39) |
V97M |
probably benign |
Het |
| Ssx2ip |
A |
G |
3: 146,124,921 (GRCm39) |
Y82C |
probably benign |
Het |
| Svopl |
A |
T |
6: 37,996,614 (GRCm39) |
W288R |
possibly damaging |
Het |
| Tdg |
T |
C |
10: 82,483,822 (GRCm39) |
Y345H |
possibly damaging |
Het |
| Tmem109 |
A |
G |
19: 10,851,727 (GRCm39) |
F53S |
possibly damaging |
Het |
| Tpsab1 |
G |
T |
17: 25,562,448 (GRCm39) |
T293N |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,287,405 (GRCm39) |
D796G |
probably damaging |
Het |
| Tuba1c |
T |
C |
15: 98,935,334 (GRCm39) |
I265T |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,711,925 (GRCm39) |
V2749A |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,623,719 (GRCm39) |
L173P |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wbp2 |
G |
T |
11: 115,974,741 (GRCm39) |
T31N |
probably benign |
Het |
| Wdr1 |
G |
T |
5: 38,703,189 (GRCm39) |
A129D |
possibly damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
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 |
|
|
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 |
|
R9645:Scp2
|
UTSW |
4 |
107,948,519 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGAAGACTGCCCACGTGTC -3'
(R):5'- TCTTGCTGGGATTACAGGCC -3'
Sequencing Primer
(F):5'- GAAGACTGCCCACGTGTCTTTTC -3'
(R):5'- ATTACAGGCCTTGGCCAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation