Incidental Mutation 'R2287:Pcolce2'
| ID |
244159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcolce2
|
| Ensembl Gene |
ENSMUSG00000015354 |
| Gene Name |
procollagen C-endopeptidase enhancer 2 |
| Synonyms |
2400001O18Rik, Pcpe2 |
| MMRRC Submission |
040286-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2287 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
95519681-95577604 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 95560458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 169
(W169*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015498]
|
| AlphaFold |
Q8R4W6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015498
AA Change: W169*
|
| SMART Domains |
Protein: ENSMUSP00000015498
Gene: ENSMUSG00000015354
AA Change: W169*
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Clec4f |
CTT |
CT |
6: 83,630,247 (GRCm39) |
|
probably null |
Het |
| Dis3l |
T |
A |
9: 64,214,779 (GRCm39) |
Q930L |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,555,279 (GRCm39) |
K275E |
probably benign |
Het |
| Ehf |
T |
C |
2: 103,097,469 (GRCm39) |
I193V |
possibly damaging |
Het |
| Gsdma3 |
A |
G |
11: 98,528,830 (GRCm39) |
N428S |
possibly damaging |
Het |
| Gtf2h4 |
C |
A |
17: 35,982,117 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Naalad2 |
A |
T |
9: 18,246,317 (GRCm39) |
|
probably null |
Het |
| Ndufa8 |
C |
T |
2: 35,926,554 (GRCm39) |
A161T |
probably benign |
Het |
| Nlrp14 |
A |
T |
7: 106,781,869 (GRCm39) |
L355F |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,622,172 (GRCm39) |
I1047T |
probably benign |
Het |
| Plxdc2 |
A |
G |
2: 16,517,001 (GRCm39) |
D94G |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,416,182 (GRCm39) |
Y1643* |
probably null |
Het |
| Skint4 |
A |
G |
4: 111,975,402 (GRCm39) |
T121A |
possibly damaging |
Het |
| Speg |
A |
G |
1: 75,407,109 (GRCm39) |
I3133V |
possibly damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trim34a |
T |
A |
7: 103,910,262 (GRCm39) |
S355T |
probably damaging |
Het |
| Trpv6 |
T |
G |
6: 41,603,045 (GRCm39) |
N276H |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,387,163 (GRCm39) |
V1175A |
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 |
|
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'- TACAGAGCAGATTGTGTGGTC -3'
(R):5'- TGTGGTCAATTTATACCAGAGGTG -3'
Sequencing Primer
(F):5'- AGGAGAGCCTCTACCATTGC -3'
(R):5'- CAGAGGTGGAGGCTCATACCTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation