Incidental Mutation 'R6625:Pcolce2'
| ID |
524736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcolce2
|
| Ensembl Gene |
ENSMUSG00000015354 |
| Gene Name |
procollagen C-endopeptidase enhancer 2 |
| Synonyms |
2400001O18Rik, Pcpe2 |
| MMRRC Submission |
044747-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6625 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
95519681-95577604 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 95560492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 180
(C180*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015498]
|
| AlphaFold |
Q8R4W6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015498
AA Change: C180*
|
| SMART Domains |
Protein: ENSMUSP00000015498
Gene: ENSMUSG00000015354
AA Change: C180*
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
32 |
143 |
1.49e-41 |
SMART |
|
CUB
|
153 |
267 |
2e-42 |
SMART |
|
low complexity region
|
268 |
293 |
N/A |
INTRINSIC |
|
C345C
|
307 |
412 |
4.1e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188629
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
91% (30/33) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no detectable abnormalities in thymus or T cell development. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(8) : Targeted(4) Gene trapped(4)
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Apcdd1 |
C |
A |
18: 63,084,929 (GRCm39) |
D375E |
probably damaging |
Het |
| Cacna2d1 |
A |
T |
5: 16,567,391 (GRCm39) |
R984W |
probably null |
Het |
| Csmd3 |
T |
G |
15: 47,470,471 (GRCm39) |
I3402L |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,604,916 (GRCm39) |
T1281S |
probably benign |
Het |
| Dnmt3b |
T |
C |
2: 153,507,233 (GRCm39) |
I139T |
probably benign |
Het |
| Dtnbp1 |
T |
C |
13: 45,145,507 (GRCm39) |
E40G |
possibly damaging |
Het |
| Fam162b |
C |
T |
10: 51,466,391 (GRCm39) |
G43R |
probably damaging |
Het |
| G2e3 |
T |
G |
12: 51,400,572 (GRCm39) |
|
probably null |
Het |
| Kiss1r |
G |
A |
10: 79,755,368 (GRCm39) |
V118I |
possibly damaging |
Het |
| Mre11a |
T |
C |
9: 14,716,687 (GRCm39) |
M294T |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,571,574 (GRCm39) |
V315D |
unknown |
Het |
| Nelfe |
C |
T |
17: 35,073,334 (GRCm39) |
P290S |
probably benign |
Het |
| Or2v2 |
T |
A |
11: 49,003,896 (GRCm39) |
Y219F |
probably damaging |
Het |
| Or5a3 |
T |
G |
19: 12,400,205 (GRCm39) |
H177Q |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,154,333 (GRCm39) |
V2482D |
probably damaging |
Het |
| Plagl1 |
T |
C |
10: 13,003,806 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,090,369 (GRCm39) |
Y470N |
probably damaging |
Het |
| Pramel57 |
C |
T |
5: 95,669,342 (GRCm39) |
H124Y |
possibly damaging |
Het |
| Prss48 |
G |
T |
3: 85,905,373 (GRCm39) |
Q167K |
probably benign |
Het |
| Saxo4 |
G |
A |
19: 10,459,100 (GRCm39) |
P65L |
probably damaging |
Het |
| Scyl1 |
C |
A |
19: 5,810,854 (GRCm39) |
V488F |
probably damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,372,594 (GRCm39) |
L587Q |
possibly damaging |
Het |
| Sim1 |
A |
G |
10: 50,860,082 (GRCm39) |
D648G |
probably benign |
Het |
| Snupn |
G |
A |
9: 56,890,054 (GRCm39) |
V292I |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,656,717 (GRCm39) |
H474R |
probably damaging |
Het |
| Thap12 |
G |
A |
7: 98,365,277 (GRCm39) |
V482I |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,949,025 (GRCm39) |
V454D |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,894,935 (GRCm39) |
I862V |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,693,177 (GRCm39) |
F474L |
probably benign |
Het |
| Zbtb38 |
T |
C |
9: 96,569,366 (GRCm39) |
R573G |
probably damaging |
Het |
| Zfp493 |
C |
T |
13: 67,934,514 (GRCm39) |
Q156* |
probably null |
Het |
| Zfp873 |
C |
A |
10: 81,896,138 (GRCm39) |
P290T |
probably damaging |
Het |
|
| Other mutations in Pcolce2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01152:Pcolce2
|
APN |
9 |
95,574,976 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03339:Pcolce2
|
APN |
9 |
95,560,393 (GRCm39) |
splice site |
probably benign |
|
|
R0019:Pcolce2
|
UTSW |
9 |
95,577,017 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0019:Pcolce2
|
UTSW |
9 |
95,577,017 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0570:Pcolce2
|
UTSW |
9 |
95,520,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0962:Pcolce2
|
UTSW |
9 |
95,552,087 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0989:Pcolce2
|
UTSW |
9 |
95,520,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1171:Pcolce2
|
UTSW |
9 |
95,576,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1840:Pcolce2
|
UTSW |
9 |
95,552,256 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1840:Pcolce2
|
UTSW |
9 |
95,552,170 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1997:Pcolce2
|
UTSW |
9 |
95,576,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2061:Pcolce2
|
UTSW |
9 |
95,552,229 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2196:Pcolce2
|
UTSW |
9 |
95,576,742 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2287:Pcolce2
|
UTSW |
9 |
95,560,458 (GRCm39) |
nonsense |
probably null |
|
|
R2922:Pcolce2
|
UTSW |
9 |
95,576,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4049:Pcolce2
|
UTSW |
9 |
95,520,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4432:Pcolce2
|
UTSW |
9 |
95,563,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4639:Pcolce2
|
UTSW |
9 |
95,519,930 (GRCm39) |
splice site |
probably null |
|
|
R6288:Pcolce2
|
UTSW |
9 |
95,563,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6883:Pcolce2
|
UTSW |
9 |
95,560,396 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7023:Pcolce2
|
UTSW |
9 |
95,560,521 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7066:Pcolce2
|
UTSW |
9 |
95,563,674 (GRCm39) |
missense |
probably benign |
|
|
R7949:Pcolce2
|
UTSW |
9 |
95,576,688 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8325:Pcolce2
|
UTSW |
9 |
95,574,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8369:Pcolce2
|
UTSW |
9 |
95,519,847 (GRCm39) |
start codon destroyed |
probably benign |
|
|
R8510:Pcolce2
|
UTSW |
9 |
95,563,700 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8844:Pcolce2
|
UTSW |
9 |
95,563,625 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9234:Pcolce2
|
UTSW |
9 |
95,560,439 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9485:Pcolce2
|
UTSW |
9 |
95,520,720 (GRCm39) |
nonsense |
probably null |
|
|
R9775:Pcolce2
|
UTSW |
9 |
95,520,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pcolce2
|
UTSW |
9 |
95,519,889 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1177:Pcolce2
|
UTSW |
9 |
95,560,478 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCCAGGCGATTGTGCTAC -3'
(R):5'- CACCTTGAGCAATTCACAGC -3'
Sequencing Primer
(F):5'- CAGGCGATTGTGCTACTGTGATC -3'
(R):5'- CCTTGAGCAATTCACAGCAGAGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation