Incidental Mutation 'R2307:Pcolce'
| ID |
244628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcolce
|
| Ensembl Gene |
ENSMUSG00000029718 |
| Gene Name |
procollagen C-endopeptidase enhancer protein |
| Synonyms |
Astt-2, Astt2 |
| MMRRC Submission |
040306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R2307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137603369-137609666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137607356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 45
(H45R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142608
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031731]
[ENSMUST00000031732]
[ENSMUST00000054564]
[ENSMUST00000111002]
[ENSMUST00000124693]
[ENSMUST00000142675]
[ENSMUST00000197912]
[ENSMUST00000155251]
[ENSMUST00000136028]
|
| AlphaFold |
Q61398 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031731
AA Change: H86R
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000031731
Gene: ENSMUSG00000029718
AA Change: H86R
| 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: ENSMUST00000031732
|
| SMART Domains |
Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
29 |
69 |
1.48e-7 |
SMART |
|
Pfam:RCC1
|
386 |
432 |
2.2e-10 |
PFAM |
|
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054564
AA Change: H86R
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000057002
Gene: ENSMUSG00000029718
AA Change: H86R
| 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: ENSMUST00000111002
|
| SMART Domains |
Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
247 |
293 |
4.2e-11 |
PFAM |
|
low complexity region
|
303 |
316 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124693
AA Change: H4R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120749
Gene: ENSMUSG00000029718
AA Change: H4R
| 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 |
possibly damaging
Transcript: ENSMUST00000142675
AA Change: H68R
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115654
Gene: ENSMUSG00000029718
AA Change: H68R
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
18 |
130 |
3.79e-43 |
SMART |
|
CUB
|
140 |
214 |
2.16e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197912
AA Change: H45R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142608
Gene: ENSMUSG00000029718
AA Change: H45R
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
1 |
107 |
2.2e-36 |
SMART |
|
C345C
|
130 |
236 |
1.3e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155251
AA Change: H4R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121575
Gene: ENSMUSG00000029718
AA Change: H4R
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
8 |
111 |
1.92e-21 |
SMART |
|
Pfam:CUB
|
121 |
169 |
1.6e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148662
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136649
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136028
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.9%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
C |
12: 84,122,375 (GRCm39) |
F320L |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,087 (GRCm39) |
K170R |
probably damaging |
Het |
| Ano2 |
T |
C |
6: 125,969,849 (GRCm39) |
S722P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,946,970 (GRCm39) |
Y215C |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,695,044 (GRCm39) |
N555S |
probably benign |
Het |
| Cfap58 |
C |
T |
19: 47,950,925 (GRCm39) |
Q429* |
probably null |
Het |
| Clcnkb |
A |
G |
4: 141,139,640 (GRCm39) |
S121P |
probably damaging |
Het |
| Cltb |
T |
A |
13: 54,746,564 (GRCm39) |
E67D |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,846,447 (GRCm39) |
L581Q |
probably damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,190,633 (GRCm39) |
|
probably null |
Het |
| Fgf14 |
T |
A |
14: 124,221,234 (GRCm39) |
N190I |
probably damaging |
Het |
| Galnt17 |
T |
G |
5: 130,929,460 (GRCm39) |
Y449S |
probably damaging |
Het |
| Grin3a |
C |
T |
4: 49,793,033 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
A |
G |
6: 100,764,173 (GRCm39) |
N286S |
probably damaging |
Het |
| H2-K2 |
A |
G |
17: 34,216,113 (GRCm39) |
V120A |
probably benign |
Het |
| Inpp5f |
T |
C |
7: 128,296,034 (GRCm39) |
V168A |
probably damaging |
Het |
| Kif1a |
G |
T |
1: 93,006,491 (GRCm39) |
H59N |
probably damaging |
Het |
| Krt24 |
T |
C |
11: 99,175,456 (GRCm39) |
Q193R |
possibly damaging |
Het |
| Krtap5-4 |
C |
A |
7: 141,857,351 (GRCm39) |
S7* |
probably null |
Het |
| Ltn1 |
A |
G |
16: 87,229,312 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mep1b |
A |
T |
18: 21,221,632 (GRCm39) |
D194V |
probably damaging |
Het |
| Mettl25b |
A |
T |
3: 87,834,162 (GRCm39) |
M171K |
possibly damaging |
Het |
| Orc3 |
C |
T |
4: 34,586,503 (GRCm39) |
V382M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,728,665 (GRCm39) |
|
probably benign |
Het |
| Prf1 |
T |
C |
10: 61,138,942 (GRCm39) |
V300A |
possibly damaging |
Het |
| Prorp |
T |
C |
12: 55,351,101 (GRCm39) |
F137L |
probably damaging |
Het |
| Prss53 |
T |
C |
7: 127,490,037 (GRCm39) |
I18V |
probably benign |
Het |
| Rnase2b |
A |
G |
14: 51,400,188 (GRCm39) |
T90A |
probably benign |
Het |
| Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec16b |
G |
A |
1: 157,363,062 (GRCm39) |
V298I |
probably damaging |
Het |
| Smarcd3 |
C |
T |
5: 24,800,746 (GRCm39) |
R156Q |
probably damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,572,731 (GRCm39) |
A242T |
probably damaging |
Het |
| Syce1l |
T |
C |
8: 114,369,937 (GRCm39) |
|
probably null |
Het |
| Tcam1 |
T |
C |
11: 106,174,940 (GRCm39) |
C132R |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,982,605 (GRCm39) |
I84V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,717,342 (GRCm39) |
R455* |
probably null |
Het |
| Ubl5 |
T |
A |
9: 20,557,876 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
T |
A |
17: 47,277,141 (GRCm39) |
K779* |
probably null |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,669 (GRCm39) |
I156V |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,239,854 (GRCm39) |
T3513A |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,121 (GRCm39) |
T149I |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,087,201 (GRCm39) |
D343E |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGGCGAAGATACTCACC -3'
(R):5'- CAGGGGTCCTTTCCAGTTATG -3'
Sequencing Primer
(F):5'- GGCGAAGATACTCACCAGTGC -3'
(R):5'- GGCTATTTCTCTGCCTAGGAAGTAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation