Incidental Mutation 'R4639:Pcolce2'
| ID |
350835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcolce2
|
| Ensembl Gene |
ENSMUSG00000015354 |
| Gene Name |
procollagen C-endopeptidase enhancer 2 |
| Synonyms |
2400001O18Rik, Pcpe2 |
| MMRRC Submission |
041901-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4639 (G1)
|
| Quality Score |
83 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
95519681-95577604 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 95519930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015498]
|
| AlphaFold |
Q8R4W6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015498
|
| SMART Domains |
Protein: ENSMUSP00000015498
Gene: ENSMUSG00000015354
| 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: ENSMUST00000126025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131619
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (37/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Atad2b |
A |
C |
12: 5,068,053 (GRCm39) |
H1017P |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,813,317 (GRCm39) |
V943D |
probably benign |
Het |
| Babam1 |
C |
T |
8: 71,856,951 (GRCm39) |
A304V |
probably damaging |
Het |
| Cdk5rap2 |
G |
T |
4: 70,220,413 (GRCm39) |
A584D |
probably damaging |
Het |
| Ddx21 |
A |
T |
10: 62,427,616 (GRCm39) |
L429* |
probably null |
Het |
| Dsp |
T |
C |
13: 38,380,760 (GRCm39) |
Y2502H |
probably damaging |
Het |
| Eaf1 |
G |
A |
14: 31,226,333 (GRCm39) |
D206N |
probably benign |
Het |
| Fam43b |
T |
A |
4: 138,123,278 (GRCm39) |
D14V |
possibly damaging |
Het |
| Fanca |
T |
A |
8: 124,044,889 (GRCm39) |
K34I |
probably damaging |
Het |
| Fzd4 |
T |
C |
7: 89,056,525 (GRCm39) |
Y191H |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm10479 |
A |
G |
12: 20,483,343 (GRCm39) |
T55A |
probably damaging |
Het |
| Gsr |
T |
G |
8: 34,187,284 (GRCm39) |
I488M |
probably damaging |
Het |
| Mrs2 |
A |
G |
13: 25,185,767 (GRCm39) |
I135T |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,232,377 (GRCm39) |
M517T |
possibly damaging |
Het |
| Naip1 |
C |
G |
13: 100,580,791 (GRCm39) |
G152A |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nat10 |
G |
A |
2: 103,565,234 (GRCm39) |
T449I |
probably benign |
Het |
| Nin |
A |
G |
12: 70,085,375 (GRCm39) |
S1619P |
probably damaging |
Het |
| Or14c45 |
G |
A |
7: 86,175,969 (GRCm39) |
M1I |
probably null |
Het |
| Or5m9b |
A |
G |
2: 85,905,923 (GRCm39) |
I280V |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,479,439 (GRCm39) |
T448A |
probably benign |
Het |
| Pnp |
C |
T |
14: 51,188,380 (GRCm39) |
R207* |
probably null |
Het |
| Ppl |
A |
G |
16: 4,907,310 (GRCm39) |
V995A |
probably damaging |
Het |
| Ppp2r2a |
G |
A |
14: 67,276,406 (GRCm39) |
T33I |
probably damaging |
Het |
| Pramel20 |
C |
T |
4: 143,298,467 (GRCm39) |
R137C |
probably benign |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Rgs16 |
G |
T |
1: 153,617,781 (GRCm39) |
C97F |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,444,717 (GRCm39) |
D2254E |
probably benign |
Het |
| Slc6a17 |
T |
C |
3: 107,381,597 (GRCm39) |
M495V |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,082,724 (GRCm39) |
I1967V |
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tcp11l2 |
A |
G |
10: 84,420,800 (GRCm39) |
D13G |
probably damaging |
Het |
| Vmn1r167 |
T |
C |
7: 23,205,011 (GRCm39) |
I2V |
probably benign |
Het |
| Vwa5a |
T |
C |
9: 38,638,410 (GRCm39) |
|
probably null |
Het |
| Wdr95 |
T |
C |
5: 149,505,279 (GRCm39) |
|
probably benign |
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 |
|
R6288:Pcolce2
|
UTSW |
9 |
95,563,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6625:Pcolce2
|
UTSW |
9 |
95,560,492 (GRCm39) |
nonsense |
probably null |
|
|
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'- ACAAACGGGACATTCAGCCG -3'
(R):5'- AGCATATTCAAGCGCTAAAGC -3'
Sequencing Primer
(F):5'- AATTAGGCGTGGAGTCCGC -3'
(R):5'- TAAAGCGCCGGCGCCCAAAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation