Incidental Mutation 'IGL01444:Pcolce'
| ID |
84364 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcolce
|
| Ensembl Gene |
ENSMUSG00000029718 |
| Gene Name |
procollagen C-endopeptidase enhancer protein |
| Synonyms |
Astt-2, Astt2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
IGL01444
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137603369-137609666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 137605738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 200
(S200R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031731]
[ENSMUST00000054564]
[ENSMUST00000124693]
[ENSMUST00000142675]
[ENSMUST00000197912]
[ENSMUST00000155251]
|
| AlphaFold |
Q61398 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031731
AA Change: S218R
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031731
Gene: ENSMUSG00000029718
AA Change: S218R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
CUB
|
36 |
148 |
3.79e-43 |
SMART |
|
CUB
|
158 |
272 |
3e-46 |
SMART |
|
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
338 |
N/A |
INTRINSIC |
|
C345C
|
352 |
458 |
3.92e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054564
AA Change: S243R
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000057002
Gene: ENSMUSG00000029718
AA Change: S243R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
CUB
|
36 |
148 |
3.79e-43 |
SMART |
|
CUB
|
183 |
297 |
3e-46 |
SMART |
|
low complexity region
|
324 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
363 |
N/A |
INTRINSIC |
|
C345C
|
377 |
483 |
3.92e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124693
|
| SMART Domains |
Protein: ENSMUSP00000120749
Gene: ENSMUSG00000029718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CUB
|
1 |
63 |
2.4e-12 |
PFAM |
|
Pfam:CUB
|
76 |
124 |
3.4e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137210
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142675
AA Change: S200R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115654
Gene: ENSMUSG00000029718
AA Change: S200R
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
18 |
130 |
3.79e-43 |
SMART |
|
CUB
|
140 |
214 |
2.16e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148662
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197912
|
| SMART Domains |
Protein: ENSMUSP00000142608
Gene: ENSMUSG00000029718
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
1 |
107 |
2.2e-36 |
SMART |
|
C345C
|
130 |
236 |
1.3e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155251
|
| SMART Domains |
Protein: ENSMUSP00000121575
Gene: ENSMUSG00000029718
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
8 |
111 |
1.92e-21 |
SMART |
|
Pfam:CUB
|
121 |
169 |
1.6e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in thickened cortical and trabecular bone and abnormal collagen fibrils in both mineralized and nonmineralized tissues. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
A |
T |
3: 37,146,183 (GRCm39) |
N517I |
probably damaging |
Het |
| Adam25 |
G |
A |
8: 41,207,958 (GRCm39) |
R408H |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,079,470 (GRCm39) |
D251E |
probably benign |
Het |
| Ang |
C |
A |
14: 51,339,124 (GRCm39) |
Y88* |
probably null |
Het |
| Ankrd42 |
T |
C |
7: 92,259,793 (GRCm39) |
T327A |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,938,682 (GRCm39) |
D2696G |
probably damaging |
Het |
| Chd3 |
G |
A |
11: 69,239,568 (GRCm39) |
T1717M |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,250,069 (GRCm39) |
M970L |
probably benign |
Het |
| Dhx32 |
T |
C |
7: 133,350,706 (GRCm39) |
I121M |
possibly damaging |
Het |
| Dnah11 |
G |
A |
12: 117,983,967 (GRCm39) |
S2506F |
possibly damaging |
Het |
| Dscam |
T |
A |
16: 96,474,909 (GRCm39) |
I1218F |
possibly damaging |
Het |
| Duox1 |
T |
C |
2: 122,170,571 (GRCm39) |
L1197P |
probably damaging |
Het |
| Eps8l2 |
T |
C |
7: 140,941,288 (GRCm39) |
|
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,355,054 (GRCm39) |
K49R |
probably damaging |
Het |
| Exoc8 |
T |
A |
8: 125,622,580 (GRCm39) |
T596S |
possibly damaging |
Het |
| F13a1 |
C |
T |
13: 37,102,551 (GRCm39) |
G391R |
probably null |
Het |
| Fat3 |
A |
T |
9: 15,910,144 (GRCm39) |
S1953T |
probably damaging |
Het |
| Gls2 |
C |
A |
10: 128,037,216 (GRCm39) |
N252K |
probably damaging |
Het |
| Haus2 |
G |
A |
2: 120,446,423 (GRCm39) |
R115K |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,861,340 (GRCm39) |
K262E |
probably benign |
Het |
| Islr2 |
C |
T |
9: 58,105,661 (GRCm39) |
C533Y |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,274,060 (GRCm39) |
F3997I |
possibly damaging |
Het |
| Nt5c1a |
C |
T |
4: 123,109,962 (GRCm39) |
R354W |
probably damaging |
Het |
| Or6c206 |
T |
A |
10: 129,097,204 (GRCm39) |
C125S |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,063,497 (GRCm39) |
V2213A |
possibly damaging |
Het |
| Prmt3 |
T |
A |
7: 49,430,120 (GRCm39) |
D74E |
probably benign |
Het |
| Ptk7 |
A |
G |
17: 46,876,313 (GRCm39) |
F1046S |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,311,122 (GRCm39) |
Y887H |
possibly damaging |
Het |
| Sanbr |
T |
G |
11: 23,570,225 (GRCm39) |
|
probably benign |
Het |
| Sez6l2 |
G |
A |
7: 126,561,055 (GRCm39) |
E447K |
possibly damaging |
Het |
| Shld2 |
C |
A |
14: 33,959,514 (GRCm39) |
V823F |
probably damaging |
Het |
| Snrnp70 |
C |
T |
7: 45,036,660 (GRCm39) |
|
probably null |
Het |
| Timm10 |
T |
A |
2: 84,660,208 (GRCm39) |
V49E |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,067,386 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,888,801 (GRCm39) |
M1K |
probably null |
Het |
| Usp32 |
A |
C |
11: 84,949,990 (GRCm39) |
L223V |
probably damaging |
Het |
| Zeb1 |
G |
T |
18: 5,767,906 (GRCm39) |
A806S |
probably damaging |
Het |
| Zeb1 |
T |
C |
18: 5,767,138 (GRCm39) |
S550P |
probably benign |
Het |
|
| Other mutations in Pcolce |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01566:Pcolce
|
APN |
5 |
137,603,422 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0157:Pcolce
|
UTSW |
5 |
137,608,741 (GRCm39) |
splice site |
probably null |
|
|
R1585:Pcolce
|
UTSW |
5 |
137,608,769 (GRCm39) |
nonsense |
probably null |
|
|
R2307:Pcolce
|
UTSW |
5 |
137,607,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2507:Pcolce
|
UTSW |
5 |
137,605,313 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3700:Pcolce
|
UTSW |
5 |
137,607,309 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4011:Pcolce
|
UTSW |
5 |
137,604,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4223:Pcolce
|
UTSW |
5 |
137,603,389 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4983:Pcolce
|
UTSW |
5 |
137,603,936 (GRCm39) |
intron |
probably benign |
|
|
R5141:Pcolce
|
UTSW |
5 |
137,604,012 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5626:Pcolce
|
UTSW |
5 |
137,608,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6223:Pcolce
|
UTSW |
5 |
137,603,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6241:Pcolce
|
UTSW |
5 |
137,603,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6643:Pcolce
|
UTSW |
5 |
137,607,165 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6938:Pcolce
|
UTSW |
5 |
137,603,878 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7583:Pcolce
|
UTSW |
5 |
137,605,707 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7596:Pcolce
|
UTSW |
5 |
137,605,087 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7703:Pcolce
|
UTSW |
5 |
137,603,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7991:Pcolce
|
UTSW |
5 |
137,607,390 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8012:Pcolce
|
UTSW |
5 |
137,603,457 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8734:Pcolce
|
UTSW |
5 |
137,609,550 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9131:Pcolce
|
UTSW |
5 |
137,603,770 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9272:Pcolce
|
UTSW |
5 |
137,606,333 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Posted On |
2013-11-11 |
Incidental Mutation