Incidental Mutation 'R4223:Pcolce'
| ID |
319449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcolce
|
| Ensembl Gene |
ENSMUSG00000029718 |
| Gene Name |
procollagen C-endopeptidase enhancer protein |
| Synonyms |
Astt-2, Astt2 |
| MMRRC Submission |
041043-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R4223 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137603369-137609666 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to A
at 137603389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142608
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031731]
[ENSMUST00000037620]
[ENSMUST00000054564]
[ENSMUST00000111007]
[ENSMUST00000124693]
[ENSMUST00000133705]
[ENSMUST00000154708]
[ENSMUST00000155251]
[ENSMUST00000142675]
[ENSMUST00000197912]
|
| AlphaFold |
Q61398 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031731
|
| SMART Domains |
Protein: ENSMUSP00000031731
Gene: ENSMUSG00000029718
| 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 |
probably benign
Transcript: ENSMUST00000037620
|
| SMART Domains |
Protein: ENSMUSP00000040828
Gene: ENSMUSG00000037221
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Motile_Sperm
|
33 |
133 |
1.2e-17 |
PFAM |
|
transmembrane domain
|
176 |
198 |
N/A |
INTRINSIC |
|
transmembrane domain
|
213 |
232 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054564
|
| SMART Domains |
Protein: ENSMUSP00000057002
Gene: ENSMUSG00000029718
| 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: ENSMUST00000111007
|
| SMART Domains |
Protein: ENSMUSP00000106636
Gene: ENSMUSG00000037221
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Motile_Sperm
|
33 |
132 |
3.5e-17 |
PFAM |
|
transmembrane domain
|
176 |
198 |
N/A |
INTRINSIC |
|
transmembrane domain
|
213 |
232 |
N/A |
INTRINSIC |
|
| 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: ENSMUST00000126904
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196366
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148662
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133705
|
| SMART Domains |
Protein: ENSMUSP00000122462
Gene: ENSMUSG00000037221
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1grwa_
|
34 |
74 |
7e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154708
|
| SMART Domains |
Protein: ENSMUSP00000116851
Gene: ENSMUSG00000037221
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Motile_Sperm
|
33 |
132 |
2.3e-17 |
PFAM |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142675
|
| SMART Domains |
Protein: ENSMUSP00000115654
Gene: ENSMUSG00000029718
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
18 |
130 |
3.79e-43 |
SMART |
|
CUB
|
140 |
214 |
2.16e-6 |
SMART |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
98% (65/66) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
G |
10: 78,930,286 (GRCm39) |
Y43H |
probably damaging |
Het |
| Aamp |
A |
T |
1: 74,320,285 (GRCm39) |
L348Q |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,863,722 (GRCm39) |
L226M |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,774,511 (GRCm39) |
S396P |
probably damaging |
Het |
| Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,700,355 (GRCm39) |
D48G |
probably benign |
Het |
| Bhmt-ps1 |
T |
A |
4: 26,369,352 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc116 |
A |
G |
16: 16,964,809 (GRCm39) |
|
probably benign |
Het |
| Cmtm5 |
T |
A |
14: 55,175,376 (GRCm39) |
C51S |
probably damaging |
Het |
| Cyb5rl |
T |
C |
4: 106,938,185 (GRCm39) |
V214A |
probably damaging |
Het |
| Cyp4x1 |
A |
T |
4: 114,970,077 (GRCm39) |
I350N |
probably damaging |
Het |
| Efcab6 |
C |
A |
15: 83,751,309 (GRCm39) |
D1498Y |
probably damaging |
Het |
| Eif3c |
C |
G |
7: 126,165,471 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
G |
A |
16: 63,403,902 (GRCm39) |
S733L |
probably damaging |
Het |
| Esyt1 |
T |
C |
10: 128,356,517 (GRCm39) |
Y376C |
probably damaging |
Het |
| Galnt1 |
T |
C |
18: 24,371,413 (GRCm39) |
F4L |
probably benign |
Het |
| Glis1 |
T |
C |
4: 107,425,042 (GRCm39) |
S218P |
probably benign |
Het |
| Gm15854 |
A |
T |
6: 129,949,426 (GRCm39) |
|
noncoding transcript |
Het |
| Gm29125 |
T |
C |
1: 80,361,236 (GRCm39) |
|
noncoding transcript |
Het |
| Inpp5a |
T |
C |
7: 139,138,821 (GRCm39) |
V263A |
possibly damaging |
Het |
| Itgb1 |
T |
G |
8: 129,440,624 (GRCm39) |
I255S |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,482,257 (GRCm39) |
L1547P |
possibly damaging |
Het |
| Kifc3 |
C |
A |
8: 95,836,610 (GRCm39) |
L72F |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Lrrc55 |
G |
A |
2: 85,026,460 (GRCm39) |
A188V |
possibly damaging |
Het |
| Ly6i |
A |
T |
15: 74,854,884 (GRCm39) |
S9T |
probably benign |
Het |
| Mfsd14b |
C |
T |
13: 65,214,422 (GRCm39) |
|
probably benign |
Het |
| Nipsnap3a |
T |
A |
4: 52,997,251 (GRCm39) |
D172E |
probably benign |
Het |
| Or4g7 |
A |
T |
2: 111,309,489 (GRCm39) |
Y120F |
probably benign |
Het |
| Oxgr1 |
T |
C |
14: 120,260,025 (GRCm39) |
K61E |
probably damaging |
Het |
| Pak2 |
G |
T |
16: 31,871,028 (GRCm39) |
N51K |
probably benign |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,968 (GRCm39) |
S383R |
probably damaging |
Het |
| Phf1 |
C |
T |
17: 27,156,474 (GRCm39) |
R539* |
probably null |
Het |
| Plch1 |
G |
A |
3: 63,609,321 (GRCm39) |
T48I |
probably damaging |
Het |
| Plekha2 |
A |
G |
8: 25,533,036 (GRCm39) |
S312P |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,872,126 (GRCm39) |
F69L |
possibly damaging |
Het |
| Ppcdc |
T |
A |
9: 57,321,998 (GRCm39) |
M181L |
possibly damaging |
Het |
| Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
| Rfc3 |
C |
A |
5: 151,574,637 (GRCm39) |
|
probably benign |
Het |
| Rpa2 |
T |
G |
4: 132,504,055 (GRCm39) |
I69S |
probably damaging |
Het |
| Rtn4 |
G |
A |
11: 29,656,856 (GRCm39) |
V337I |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,113,708 (GRCm39) |
L1709P |
probably damaging |
Het |
| Sh2b2 |
G |
A |
5: 136,247,907 (GRCm39) |
P548L |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,043,328 (GRCm39) |
S591T |
probably damaging |
Het |
| Slc25a45 |
A |
T |
19: 5,930,146 (GRCm39) |
I39F |
probably damaging |
Het |
| Slc38a9 |
G |
A |
13: 112,850,782 (GRCm39) |
|
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,658,286 (GRCm39) |
V603A |
probably damaging |
Het |
| Snx19 |
T |
G |
9: 30,339,744 (GRCm39) |
V294G |
possibly damaging |
Het |
| Sp140l2 |
T |
C |
1: 85,090,278 (GRCm39) |
D83G |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
| Strn3 |
C |
T |
12: 51,674,638 (GRCm39) |
R382Q |
probably damaging |
Het |
| Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
| Trps1 |
A |
G |
15: 50,710,044 (GRCm39) |
V98A |
probably benign |
Het |
| Vmn1r220 |
T |
A |
13: 23,368,148 (GRCm39) |
M183L |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,338,828 (GRCm39) |
T1444A |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,346,837 (GRCm39) |
E3026V |
possibly damaging |
Het |
|
| Other mutations in Pcolce |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01444:Pcolce
|
APN |
5 |
137,605,738 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGCCCCTATCATATATTCTTAAGAG -3'
(R):5'- GCCAGTTATCTGCTGATGGG -3'
Sequencing Primer
(F):5'- TTTGAACTCAGGAGCCTAGC -3'
(R):5'- CTGATGGGTCAGGTGGAAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation