Incidental Mutation 'R0989:Pcolce2'
| ID |
97512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcolce2
|
| Ensembl Gene |
ENSMUSG00000015354 |
| Gene Name |
procollagen C-endopeptidase enhancer 2 |
| Synonyms |
2400001O18Rik, Pcpe2 |
| MMRRC Submission |
039109-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0989 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
95519681-95577604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95520776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 51
(M51K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015498]
|
| AlphaFold |
Q8R4W6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015498
AA Change: M51K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000015498
Gene: ENSMUSG00000015354
AA Change: M51K
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
A |
G |
7: 131,030,273 (GRCm39) |
D140G |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,518,710 (GRCm39) |
S43P |
possibly damaging |
Het |
| C4bp |
G |
A |
1: 130,570,790 (GRCm39) |
T262I |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,370,289 (GRCm39) |
Y169H |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,915,480 (GRCm39) |
E831G |
probably benign |
Het |
| Celsr2 |
A |
C |
3: 108,310,588 (GRCm39) |
M1498R |
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,508,373 (GRCm39) |
V59A |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,875,002 (GRCm39) |
I2560V |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,739,155 (GRCm39) |
M376K |
possibly damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,685,149 (GRCm39) |
V328A |
probably benign |
Het |
| Gm4846 |
G |
A |
1: 166,314,689 (GRCm39) |
S318L |
possibly damaging |
Het |
| Golm1 |
A |
T |
13: 59,787,997 (GRCm39) |
Y301N |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,698,180 (GRCm39) |
T614A |
probably benign |
Het |
| Klhl33 |
T |
A |
14: 51,129,279 (GRCm39) |
Y390F |
probably damaging |
Het |
| Minar1 |
T |
A |
9: 89,484,088 (GRCm39) |
K436N |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,316,169 (GRCm39) |
S6P |
probably benign |
Het |
| Neurod2 |
A |
G |
11: 98,218,805 (GRCm39) |
S120P |
probably damaging |
Het |
| Nfkb1 |
A |
G |
3: 135,295,157 (GRCm39) |
S896P |
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,914,193 (GRCm39) |
Y687H |
probably damaging |
Het |
| Or13a24 |
A |
C |
7: 140,154,200 (GRCm39) |
I45L |
probably damaging |
Het |
| Or52k2 |
G |
A |
7: 102,253,690 (GRCm39) |
G43D |
probably damaging |
Het |
| Parp3 |
C |
T |
9: 106,350,281 (GRCm39) |
|
probably null |
Het |
| Pnoc |
T |
C |
14: 65,642,317 (GRCm39) |
K149E |
probably damaging |
Het |
| Polr1b |
T |
G |
2: 128,967,997 (GRCm39) |
V1130G |
probably damaging |
Het |
| Prcp |
A |
T |
7: 92,559,424 (GRCm39) |
I163F |
probably benign |
Het |
| Sez6l2 |
A |
G |
7: 126,559,016 (GRCm39) |
D361G |
probably damaging |
Het |
| Slc4a9 |
T |
A |
18: 36,669,920 (GRCm39) |
L785* |
probably null |
Het |
| Ssna1 |
T |
C |
2: 25,161,575 (GRCm39) |
T91A |
probably benign |
Het |
| St18 |
A |
G |
1: 6,898,105 (GRCm39) |
T636A |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,136,736 (GRCm39) |
A1250T |
probably damaging |
Het |
| Tnk2 |
A |
G |
16: 32,499,176 (GRCm39) |
M815V |
probably damaging |
Het |
| Tspan31 |
T |
A |
10: 126,904,196 (GRCm39) |
H167L |
probably damaging |
Het |
| Tspoap1 |
T |
A |
11: 87,656,649 (GRCm39) |
C287S |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,685,599 (GRCm39) |
F2241S |
possibly 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 |
|
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 |
|
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'- GTCTTTTAAACCATGCAGCTCTGCC -3'
(R):5'- CTAATCGCTATTGCAGGACATCCCC -3'
Sequencing Primer
(F):5'- TCTGCCAGAGTGACTCTCAATAC -3'
(R):5'- TCCCAGATAGGTGAAGTAAATCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation