Incidental Mutation 'R8012:Pcolce'
ID |
616946 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcolce
|
Ensembl Gene |
ENSMUSG00000029718 |
Gene Name |
procollagen C-endopeptidase enhancer protein |
Synonyms |
Astt-2, Astt2 |
MMRRC Submission |
046052-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R8012 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137603369-137609666 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 137603457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 459
(K459E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031731]
[ENSMUST00000037620]
[ENSMUST00000054564]
[ENSMUST00000111007]
[ENSMUST00000124693]
[ENSMUST00000133705]
[ENSMUST00000142675]
[ENSMUST00000154708]
[ENSMUST00000155251]
[ENSMUST00000197912]
|
AlphaFold |
Q61398 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031731
AA Change: K459E
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000031731 Gene: ENSMUSG00000029718 AA Change: K459E
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
AA Change: K484E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000057002 Gene: ENSMUSG00000029718 AA Change: K484E
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 |
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: 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: 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 |
unknown
Transcript: ENSMUST00000197912
AA Change: K237E
|
SMART Domains |
Protein: ENSMUSP00000142608 Gene: ENSMUSG00000029718 AA Change: K237E
Domain | Start | End | E-Value | Type |
CUB
|
1 |
107 |
2.2e-36 |
SMART |
C345C
|
130 |
236 |
1.3e-22 |
SMART |
|
Meta Mutation Damage Score |
0.0736 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (44/44) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
T |
A |
4: 144,429,972 (GRCm39) |
D339V |
possibly damaging |
Het |
Adam19 |
A |
G |
11: 45,955,873 (GRCm39) |
E73G |
possibly damaging |
Het |
Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
Alas1 |
A |
T |
9: 106,123,962 (GRCm39) |
N65K |
probably benign |
Het |
Amigo1 |
T |
A |
3: 108,095,958 (GRCm39) |
S486T |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,420,174 (GRCm39) |
L591S |
unknown |
Het |
Asic1 |
T |
C |
15: 99,594,532 (GRCm39) |
V326A |
possibly damaging |
Het |
Aspm |
A |
G |
1: 139,385,202 (GRCm39) |
N282S |
probably benign |
Het |
Atad5 |
A |
G |
11: 79,985,066 (GRCm39) |
D51G |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,695,534 (GRCm39) |
S1320P |
possibly damaging |
Het |
Cabp5 |
A |
T |
7: 13,141,706 (GRCm39) |
|
probably null |
Het |
Cdca2 |
A |
G |
14: 67,914,821 (GRCm39) |
C813R |
probably benign |
Het |
Chpf2 |
A |
T |
5: 24,795,343 (GRCm39) |
R289W |
probably damaging |
Het |
Csf1r |
A |
T |
18: 61,250,136 (GRCm39) |
N367I |
possibly damaging |
Het |
Cyp2c66 |
T |
C |
19: 39,172,369 (GRCm39) |
F428S |
probably damaging |
Het |
Dgkb |
A |
T |
12: 38,189,485 (GRCm39) |
N296I |
probably benign |
Het |
Dhcr24 |
T |
C |
4: 106,443,853 (GRCm39) |
F481S |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,274,958 (GRCm39) |
Y166C |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,282,525 (GRCm39) |
Q2886L |
probably damaging |
Het |
Dock6 |
A |
T |
9: 21,757,807 (GRCm39) |
V99E |
probably benign |
Het |
F830045P16Rik |
T |
C |
2: 129,316,352 (GRCm39) |
D119G |
possibly damaging |
Het |
Fasn |
A |
T |
11: 120,702,428 (GRCm39) |
L1773Q |
probably damaging |
Het |
Filip1 |
A |
T |
9: 79,725,241 (GRCm39) |
V1126E |
probably damaging |
Het |
Fnta |
T |
C |
8: 26,489,535 (GRCm39) |
I359V |
probably benign |
Het |
Hoxc10 |
T |
C |
15: 102,875,902 (GRCm39) |
S204P |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,743,815 (GRCm39) |
C1304R |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,097,358 (GRCm39) |
E1562G |
probably benign |
Het |
Lrguk |
A |
G |
6: 34,033,038 (GRCm39) |
N235D |
probably benign |
Het |
Ly6g6f |
T |
C |
17: 35,300,060 (GRCm39) |
R263G |
possibly damaging |
Het |
Mcrs1 |
C |
A |
15: 99,147,766 (GRCm39) |
S47I |
probably damaging |
Het |
Mx1 |
T |
A |
16: 97,258,572 (GRCm39) |
I42F |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Nup188 |
T |
A |
2: 30,227,277 (GRCm39) |
C1235S |
possibly damaging |
Het |
Obsl1 |
T |
A |
1: 75,469,317 (GRCm39) |
H1208L |
probably benign |
Het |
Pcmt1 |
T |
C |
10: 7,516,527 (GRCm39) |
D175G |
probably benign |
Het |
Pudp |
T |
G |
18: 50,701,310 (GRCm39) |
H141P |
possibly damaging |
Het |
Rock2 |
T |
C |
12: 16,992,743 (GRCm39) |
Y171H |
probably damaging |
Het |
Rwdd1 |
A |
C |
10: 33,885,198 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
G |
5: 124,522,565 (GRCm39) |
V1085A |
probably benign |
Het |
Tie1 |
A |
G |
4: 118,343,678 (GRCm39) |
L88P |
possibly damaging |
Het |
Tmem131 |
T |
C |
1: 36,847,045 (GRCm39) |
D1351G |
probably damaging |
Het |
Tph1 |
A |
T |
7: 46,306,303 (GRCm39) |
D219E |
probably damaging |
Het |
Wdr86 |
A |
G |
5: 24,935,177 (GRCm39) |
|
probably null |
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 |
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 |
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'- GGCCCCTATCATATATTCTTAAGAGT -3'
(R):5'- GACAAGGTCTTGATAACTTGAGCT -3'
Sequencing Primer
(F):5'- TTTGAACTCAGGAGCCTAGC -3'
(R):5'- AAGGTCTTGATAACTTGAGCTCTCCC -3'
|
Posted On |
2020-01-23 |