Incidental Mutation 'R6223:Pcolce'
ID |
504136 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcolce
|
Ensembl Gene |
ENSMUSG00000029718 |
Gene Name |
procollagen C-endopeptidase enhancer protein |
Synonyms |
Astt-2, Astt2 |
MMRRC Submission |
044354-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R6223 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
137603369-137609666 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 137603561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 424
(M424T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031731]
[ENSMUST00000037620]
[ENSMUST00000054564]
[ENSMUST00000111007]
[ENSMUST00000124693]
[ENSMUST00000197912]
[ENSMUST00000142675]
[ENSMUST00000155251]
[ENSMUST00000133705]
[ENSMUST00000154708]
|
AlphaFold |
Q61398 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031731
AA Change: M424T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031731 Gene: ENSMUSG00000029718 AA Change: M424T
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 damaging
Transcript: ENSMUST00000054564
AA Change: M449T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000057002 Gene: ENSMUSG00000029718 AA Change: M449T
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 |
unknown
Transcript: ENSMUST00000197912
AA Change: M202T
|
SMART Domains |
Protein: ENSMUSP00000142608 Gene: ENSMUSG00000029718 AA Change: M202T
Domain | Start | End | E-Value | Type |
CUB
|
1 |
107 |
2.2e-36 |
SMART |
C345C
|
130 |
236 |
1.3e-22 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198801
|
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 |
noncoding transcript
Transcript: ENSMUST00000146589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131703
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196366
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137210
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148662
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136649
|
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: 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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
C |
2: 152,269,873 (GRCm39) |
R8S |
probably benign |
Het |
Abca8b |
A |
G |
11: 109,868,672 (GRCm39) |
V164A |
probably benign |
Het |
Acadm |
C |
A |
3: 153,644,186 (GRCm39) |
|
probably null |
Het |
Ap3b2 |
G |
A |
7: 81,123,210 (GRCm39) |
R435* |
probably null |
Het |
Art2b |
A |
G |
7: 101,229,158 (GRCm39) |
F247S |
possibly damaging |
Het |
C1rb |
T |
A |
6: 124,551,539 (GRCm39) |
D216E |
probably benign |
Het |
Casz1 |
C |
A |
4: 149,017,840 (GRCm39) |
D90E |
probably damaging |
Het |
Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
Cdc25a |
C |
A |
9: 109,718,842 (GRCm39) |
P409T |
possibly damaging |
Het |
Cidea |
A |
C |
18: 67,491,809 (GRCm39) |
K23T |
possibly damaging |
Het |
Clspn |
T |
A |
4: 126,479,961 (GRCm39) |
D1101E |
probably damaging |
Het |
Col10a1 |
A |
T |
10: 34,271,183 (GRCm39) |
D385V |
probably damaging |
Het |
Crat |
C |
T |
2: 30,297,042 (GRCm39) |
V304I |
probably benign |
Het |
Cyp2d26 |
A |
T |
15: 82,675,918 (GRCm39) |
W265R |
probably benign |
Het |
Dock8 |
A |
T |
19: 25,138,416 (GRCm39) |
Y1247F |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,221,078 (GRCm39) |
D11G |
possibly damaging |
Het |
Eed |
A |
G |
7: 89,605,495 (GRCm39) |
Y365H |
probably damaging |
Het |
Fabp5 |
T |
A |
3: 10,080,170 (GRCm39) |
F73L |
probably benign |
Het |
Fbn1 |
C |
T |
2: 125,254,591 (GRCm39) |
C224Y |
possibly damaging |
Het |
Ggcx |
T |
C |
6: 72,406,588 (GRCm39) |
F684L |
probably damaging |
Het |
Glrp1 |
G |
A |
1: 88,431,164 (GRCm39) |
Q69* |
probably null |
Het |
Gm29797 |
T |
C |
2: 181,300,850 (GRCm39) |
V115A |
possibly damaging |
Het |
Gtf3c1 |
C |
T |
7: 125,275,797 (GRCm39) |
R543K |
probably benign |
Het |
Ifih1 |
T |
C |
2: 62,428,603 (GRCm39) |
I891V |
probably benign |
Het |
Ifnar2 |
C |
T |
16: 91,184,876 (GRCm39) |
T89M |
probably damaging |
Het |
Kat6a |
C |
A |
8: 23,430,442 (GRCm39) |
N1932K |
unknown |
Het |
Mgat5 |
A |
T |
1: 127,310,716 (GRCm39) |
D210V |
possibly damaging |
Het |
Mmel1 |
A |
G |
4: 154,956,159 (GRCm39) |
|
probably null |
Het |
Myh3 |
G |
T |
11: 66,988,843 (GRCm39) |
V1499L |
probably benign |
Het |
Ncan |
A |
C |
8: 70,562,604 (GRCm39) |
D551E |
probably benign |
Het |
Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
Olfml3 |
G |
A |
3: 103,643,776 (GRCm39) |
R202W |
probably damaging |
Het |
Or2w4 |
G |
A |
13: 21,795,536 (GRCm39) |
T201I |
probably benign |
Het |
Or4e2 |
A |
G |
14: 52,688,136 (GRCm39) |
R89G |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 93,253,169 (GRCm39) |
K1131E |
probably benign |
Het |
Pi16 |
C |
A |
17: 29,546,413 (GRCm39) |
S397* |
probably null |
Het |
Pi4ka |
A |
T |
16: 17,175,435 (GRCm39) |
Y464* |
probably null |
Het |
Pik3c2b |
T |
A |
1: 132,998,095 (GRCm39) |
L324M |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,868,777 (GRCm39) |
N179S |
probably benign |
Het |
Prss56 |
C |
T |
1: 87,113,134 (GRCm39) |
P183S |
probably benign |
Het |
Prx |
T |
G |
7: 27,216,261 (GRCm39) |
M393R |
probably damaging |
Het |
Qpctl |
T |
C |
7: 18,877,134 (GRCm39) |
D328G |
probably damaging |
Het |
Qser1 |
A |
G |
2: 104,617,993 (GRCm39) |
S940P |
probably benign |
Het |
Rchy1 |
G |
A |
5: 92,105,826 (GRCm39) |
R41W |
probably damaging |
Het |
Scp2d1 |
T |
C |
2: 144,665,868 (GRCm39) |
I69T |
possibly damaging |
Het |
Sirpb1a |
A |
G |
3: 15,444,086 (GRCm39) |
V388A |
probably benign |
Het |
Ssu2 |
G |
T |
6: 112,353,409 (GRCm39) |
C238* |
probably null |
Het |
Stub1 |
C |
T |
17: 26,051,787 (GRCm39) |
G14D |
probably damaging |
Het |
Tab1 |
T |
A |
15: 80,032,464 (GRCm39) |
C24S |
probably damaging |
Het |
Tdrd1 |
T |
C |
19: 56,854,282 (GRCm39) |
V1076A |
probably damaging |
Het |
Tex10 |
T |
C |
4: 48,468,525 (GRCm39) |
R134G |
probably damaging |
Het |
Tg |
T |
A |
15: 66,579,771 (GRCm39) |
N1525K |
probably benign |
Het |
Tll2 |
G |
A |
19: 41,124,391 (GRCm39) |
T208I |
possibly damaging |
Het |
Tmem232 |
T |
C |
17: 65,807,191 (GRCm39) |
M1V |
probably null |
Het |
Ttc7b |
A |
G |
12: 100,353,368 (GRCm39) |
|
probably null |
Het |
Ubb |
A |
G |
11: 62,443,351 (GRCm39) |
E127G |
possibly damaging |
Het |
Ulk2 |
A |
T |
11: 61,678,330 (GRCm39) |
Y796* |
probably null |
Het |
Vdac2 |
G |
A |
14: 21,895,246 (GRCm39) |
G265R |
possibly damaging |
Het |
Vmn2r45 |
A |
T |
7: 8,486,301 (GRCm39) |
V329E |
probably benign |
Het |
Zbtb47 |
G |
A |
9: 121,592,853 (GRCm39) |
R391Q |
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 |
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 |
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'- ACGATCCCTTCCTGAGTCAAG -3'
(R):5'- AGTTGTATGTGCCCTGCAG -3'
Sequencing Primer
(F):5'- GAAACATTTATTTGGATGAGCTCTG -3'
(R):5'- GTTGAGCACACTGAAGGT -3'
|
Posted On |
2018-02-28 |