Incidental Mutation 'R1628:Pecam1'
ID |
172631 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pecam1
|
Ensembl Gene |
ENSMUSG00000020717 |
Gene Name |
platelet/endothelial cell adhesion molecule 1 |
Synonyms |
PECAM-1, Cd31 |
MMRRC Submission |
039665-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R1628 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
106545039-106606107 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 106573786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138959
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068021]
[ENSMUST00000068021]
[ENSMUST00000068021]
[ENSMUST00000068021]
[ENSMUST00000068021]
[ENSMUST00000068021]
[ENSMUST00000080853]
[ENSMUST00000080853]
[ENSMUST00000080853]
[ENSMUST00000080853]
[ENSMUST00000080853]
[ENSMUST00000080853]
[ENSMUST00000103069]
[ENSMUST00000103069]
[ENSMUST00000103069]
[ENSMUST00000103069]
[ENSMUST00000103069]
[ENSMUST00000103069]
[ENSMUST00000106796]
[ENSMUST00000106796]
[ENSMUST00000106796]
[ENSMUST00000106796]
[ENSMUST00000106796]
[ENSMUST00000106796]
[ENSMUST00000183610]
[ENSMUST00000183610]
[ENSMUST00000183610]
[ENSMUST00000183610]
[ENSMUST00000183610]
[ENSMUST00000183610]
|
AlphaFold |
Q08481 |
Predicted Effect |
probably null
Transcript: ENSMUST00000068021
|
SMART Domains |
Protein: ENSMUSP00000067111 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
Pfam:Ig_3
|
122 |
198 |
4.2e-4 |
PFAM |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
718 |
1e-10 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000068021
|
SMART Domains |
Protein: ENSMUSP00000067111 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
Pfam:Ig_3
|
122 |
198 |
4.2e-4 |
PFAM |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
718 |
1e-10 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000068021
|
SMART Domains |
Protein: ENSMUSP00000067111 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
Pfam:Ig_3
|
122 |
198 |
4.2e-4 |
PFAM |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
718 |
1e-10 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000068021
|
SMART Domains |
Protein: ENSMUSP00000067111 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
Pfam:Ig_3
|
122 |
198 |
4.2e-4 |
PFAM |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
718 |
1e-10 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000068021
|
SMART Domains |
Protein: ENSMUSP00000067111 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
Pfam:Ig_3
|
122 |
198 |
4.2e-4 |
PFAM |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
718 |
1e-10 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000068021
|
SMART Domains |
Protein: ENSMUSP00000067111 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
Pfam:Ig_3
|
122 |
198 |
4.2e-4 |
PFAM |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
718 |
1e-10 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000080853
|
SMART Domains |
Protein: ENSMUSP00000079664 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
710 |
4e-7 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000080853
|
SMART Domains |
Protein: ENSMUSP00000079664 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
710 |
4e-7 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000080853
|
SMART Domains |
Protein: ENSMUSP00000079664 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
710 |
4e-7 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000080853
|
SMART Domains |
Protein: ENSMUSP00000079664 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
710 |
4e-7 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000080853
|
SMART Domains |
Protein: ENSMUSP00000079664 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
710 |
4e-7 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000080853
|
SMART Domains |
Protein: ENSMUSP00000079664 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
710 |
4e-7 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000103069
|
SMART Domains |
Protein: ENSMUSP00000099358 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000103069
|
SMART Domains |
Protein: ENSMUSP00000099358 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000103069
|
SMART Domains |
Protein: ENSMUSP00000099358 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000103069
|
SMART Domains |
Protein: ENSMUSP00000099358 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000103069
|
SMART Domains |
Protein: ENSMUSP00000099358 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000103069
|
SMART Domains |
Protein: ENSMUSP00000099358 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106796
|
SMART Domains |
Protein: ENSMUSP00000102408 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
727 |
1e-16 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106796
|
SMART Domains |
Protein: ENSMUSP00000102408 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
727 |
1e-16 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106796
|
SMART Domains |
Protein: ENSMUSP00000102408 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
727 |
1e-16 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106796
|
SMART Domains |
Protein: ENSMUSP00000102408 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
727 |
1e-16 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106796
|
SMART Domains |
Protein: ENSMUSP00000102408 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
727 |
1e-16 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000106796
|
SMART Domains |
Protein: ENSMUSP00000102408 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
230 |
311 |
1.38e2 |
SMART |
IG_like
|
327 |
382 |
2e-1 |
SMART |
Blast:IG_like
|
405 |
486 |
3e-31 |
BLAST |
IG
|
497 |
584 |
5.49e-1 |
SMART |
transmembrane domain
|
592 |
614 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
676 |
727 |
1e-16 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183610
|
SMART Domains |
Protein: ENSMUSP00000138959 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
129 |
210 |
1.38e2 |
SMART |
IG_like
|
226 |
281 |
2e-1 |
SMART |
Blast:IG_like
|
304 |
385 |
2e-31 |
BLAST |
IG
|
396 |
483 |
5.49e-1 |
SMART |
transmembrane domain
|
491 |
513 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
575 |
626 |
1e-16 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183610
|
SMART Domains |
Protein: ENSMUSP00000138959 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
129 |
210 |
1.38e2 |
SMART |
IG_like
|
226 |
281 |
2e-1 |
SMART |
Blast:IG_like
|
304 |
385 |
2e-31 |
BLAST |
IG
|
396 |
483 |
5.49e-1 |
SMART |
transmembrane domain
|
491 |
513 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
575 |
626 |
1e-16 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183610
|
SMART Domains |
Protein: ENSMUSP00000138959 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
129 |
210 |
1.38e2 |
SMART |
IG_like
|
226 |
281 |
2e-1 |
SMART |
Blast:IG_like
|
304 |
385 |
2e-31 |
BLAST |
IG
|
396 |
483 |
5.49e-1 |
SMART |
transmembrane domain
|
491 |
513 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
575 |
626 |
1e-16 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183610
|
SMART Domains |
Protein: ENSMUSP00000138959 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
129 |
210 |
1.38e2 |
SMART |
IG_like
|
226 |
281 |
2e-1 |
SMART |
Blast:IG_like
|
304 |
385 |
2e-31 |
BLAST |
IG
|
396 |
483 |
5.49e-1 |
SMART |
transmembrane domain
|
491 |
513 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
575 |
626 |
1e-16 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183610
|
SMART Domains |
Protein: ENSMUSP00000138959 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
129 |
210 |
1.38e2 |
SMART |
IG_like
|
226 |
281 |
2e-1 |
SMART |
Blast:IG_like
|
304 |
385 |
2e-31 |
BLAST |
IG
|
396 |
483 |
5.49e-1 |
SMART |
transmembrane domain
|
491 |
513 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
575 |
626 |
1e-16 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183610
|
SMART Domains |
Protein: ENSMUSP00000138959 Gene: ENSMUSG00000020717
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
IG
|
32 |
118 |
3.54e-4 |
SMART |
IG_like
|
129 |
210 |
1.38e2 |
SMART |
IG_like
|
226 |
281 |
2e-1 |
SMART |
Blast:IG_like
|
304 |
385 |
2e-31 |
BLAST |
IG
|
396 |
483 |
5.49e-1 |
SMART |
transmembrane domain
|
491 |
513 |
N/A |
INTRINSIC |
PDB:2KY5|A
|
575 |
626 |
1e-16 |
PDB |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.7%
|
Validation Efficiency |
99% (75/76) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010] PHENOTYPE: Mice homozygous for a knock-out allele show increased susceptibility to collagen-induced arthritis, impaired lung alveolarization, and enhanced susceptibility to endotoxic shock. Mice homozygous for a gene-trapped allele show altered vasodilation and nitric oxide homeostasis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
C |
T |
17: 84,999,419 (GRCm39) |
Q172* |
probably null |
Het |
AI467606 |
G |
A |
7: 126,691,755 (GRCm39) |
G110D |
probably benign |
Het |
Arhgef15 |
A |
C |
11: 68,835,640 (GRCm39) |
L805R |
possibly damaging |
Het |
B3galnt1 |
G |
A |
3: 69,482,961 (GRCm39) |
T100I |
probably damaging |
Het |
Bod1l |
T |
A |
5: 41,974,325 (GRCm39) |
M2330L |
probably benign |
Het |
Calcr |
A |
T |
6: 3,700,251 (GRCm39) |
H280Q |
possibly damaging |
Het |
Camk1d |
T |
C |
2: 5,315,848 (GRCm39) |
D263G |
probably damaging |
Het |
Cd48 |
T |
A |
1: 171,532,420 (GRCm39) |
I233N |
probably damaging |
Het |
Cyp3a25 |
A |
T |
5: 145,938,273 (GRCm39) |
Y68* |
probably null |
Het |
Dapk3 |
C |
A |
10: 81,027,643 (GRCm39) |
T227K |
possibly damaging |
Het |
Dnajc22 |
A |
G |
15: 98,998,817 (GRCm39) |
M1V |
probably null |
Het |
Etv5 |
C |
T |
16: 22,220,421 (GRCm39) |
|
probably null |
Het |
Gabrr1 |
A |
G |
4: 33,152,432 (GRCm39) |
Y124C |
probably damaging |
Het |
Gba2 |
C |
T |
4: 43,570,118 (GRCm39) |
R392Q |
probably benign |
Het |
Gli3 |
C |
G |
13: 15,900,897 (GRCm39) |
A1428G |
probably benign |
Het |
Gls |
G |
A |
1: 52,271,835 (GRCm39) |
A106V |
probably benign |
Het |
Gm21370 |
A |
G |
13: 120,488,414 (GRCm39) |
V45A |
possibly damaging |
Het |
Gpr4 |
A |
G |
7: 18,957,124 (GRCm39) |
T349A |
probably benign |
Het |
Gpr6 |
C |
T |
10: 40,947,544 (GRCm39) |
V13M |
possibly damaging |
Het |
Gvin3 |
A |
T |
7: 106,202,476 (GRCm39) |
L256* |
probably null |
Het |
Hectd3 |
A |
G |
4: 116,854,589 (GRCm39) |
H345R |
probably damaging |
Het |
Igfl3 |
A |
T |
7: 17,914,232 (GRCm39) |
K135N |
probably benign |
Het |
Il23r |
A |
G |
6: 67,400,593 (GRCm39) |
L579S |
probably damaging |
Het |
Itsn2 |
A |
C |
12: 4,679,652 (GRCm39) |
M154L |
probably benign |
Het |
Junb |
T |
A |
8: 85,705,039 (GRCm39) |
Q7L |
possibly damaging |
Het |
Kif21b |
T |
A |
1: 136,098,958 (GRCm39) |
H1415Q |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Klhdc10 |
T |
G |
6: 30,444,461 (GRCm39) |
F79L |
probably damaging |
Het |
Klk1b8 |
A |
G |
7: 43,603,565 (GRCm39) |
|
probably null |
Het |
Lmbrd2 |
T |
A |
15: 9,182,593 (GRCm39) |
N509K |
probably damaging |
Het |
Mctp2 |
A |
G |
7: 71,861,337 (GRCm39) |
|
probably null |
Het |
Myo3b |
A |
G |
2: 70,117,306 (GRCm39) |
N913S |
probably benign |
Het |
N4bp2 |
G |
A |
5: 65,960,915 (GRCm39) |
|
probably null |
Het |
Nt5c1a |
A |
G |
4: 123,102,284 (GRCm39) |
E70G |
possibly damaging |
Het |
Or12k5 |
A |
G |
2: 36,894,738 (GRCm39) |
V296A |
probably damaging |
Het |
Papln |
A |
G |
12: 83,831,180 (GRCm39) |
|
probably benign |
Het |
Pcnx3 |
G |
T |
19: 5,736,093 (GRCm39) |
S244R |
probably damaging |
Het |
Plppr4 |
A |
T |
3: 117,121,921 (GRCm39) |
L219Q |
probably damaging |
Het |
Ppp2r5b |
A |
G |
19: 6,280,935 (GRCm39) |
|
probably null |
Het |
Ralgapb |
A |
G |
2: 158,272,383 (GRCm39) |
R146G |
probably benign |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rfpl4b |
T |
G |
10: 38,697,530 (GRCm39) |
I24L |
probably benign |
Het |
Serpinb1b |
G |
A |
13: 33,277,637 (GRCm39) |
C290Y |
probably benign |
Het |
Skic3 |
A |
G |
13: 76,259,910 (GRCm39) |
E70G |
possibly damaging |
Het |
Slc25a17 |
A |
G |
15: 81,244,925 (GRCm39) |
S3P |
possibly damaging |
Het |
Slc4a11 |
A |
C |
2: 130,529,047 (GRCm39) |
|
probably null |
Het |
Spata31e4 |
T |
C |
13: 50,856,324 (GRCm39) |
L654P |
probably benign |
Het |
Sptb |
A |
G |
12: 76,630,622 (GRCm39) |
Y2231H |
probably damaging |
Het |
Srgap1 |
T |
G |
10: 121,706,244 (GRCm39) |
M221L |
probably benign |
Het |
Srgap3 |
A |
G |
6: 112,716,331 (GRCm39) |
L599P |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,107,561 (GRCm39) |
V1177M |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,157,599 (GRCm39) |
F1303L |
possibly damaging |
Het |
Tbxa2r |
T |
C |
10: 81,170,341 (GRCm39) |
S276P |
possibly damaging |
Het |
Try10 |
A |
T |
6: 41,334,390 (GRCm39) |
D194V |
probably damaging |
Het |
Ttc39c |
T |
C |
18: 12,867,936 (GRCm39) |
|
probably benign |
Het |
Ttc8 |
G |
A |
12: 98,948,780 (GRCm39) |
V489M |
probably benign |
Het |
Unc13b |
G |
T |
4: 43,263,371 (GRCm39) |
R1912L |
probably damaging |
Het |
Unc45b |
T |
A |
11: 82,820,206 (GRCm39) |
|
probably null |
Het |
Usp17lb |
T |
C |
7: 104,490,048 (GRCm39) |
Y292C |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,438,725 (GRCm39) |
D3429G |
probably damaging |
Het |
Usp42 |
A |
G |
5: 143,703,122 (GRCm39) |
S500P |
probably damaging |
Het |
Vmn2r14 |
T |
C |
5: 109,367,838 (GRCm39) |
M385V |
probably benign |
Het |
Vmn2r60 |
G |
A |
7: 41,785,830 (GRCm39) |
W211* |
probably null |
Het |
Vwf |
A |
T |
6: 125,624,701 (GRCm39) |
|
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,681,918 (GRCm39) |
F3018I |
probably damaging |
Het |
Wwox |
A |
G |
8: 115,174,973 (GRCm39) |
T102A |
probably benign |
Het |
Zfp142 |
A |
C |
1: 74,611,047 (GRCm39) |
L813R |
possibly damaging |
Het |
Zfp407 |
G |
A |
18: 84,372,658 (GRCm39) |
T1670M |
probably damaging |
Het |
Zfp93 |
A |
G |
7: 23,974,282 (GRCm39) |
E89G |
probably benign |
Het |
Zwint |
C |
T |
10: 72,492,127 (GRCm39) |
Q18* |
probably null |
Het |
|
Other mutations in Pecam1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00783:Pecam1
|
APN |
11 |
106,590,624 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01914:Pecam1
|
APN |
11 |
106,590,693 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02035:Pecam1
|
APN |
11 |
106,586,685 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02124:Pecam1
|
APN |
11 |
106,581,807 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02487:Pecam1
|
APN |
11 |
106,562,606 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02576:Pecam1
|
APN |
11 |
106,562,600 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03101:Pecam1
|
APN |
11 |
106,588,177 (GRCm39) |
missense |
probably damaging |
0.99 |
R1495:Pecam1
|
UTSW |
11 |
106,579,682 (GRCm39) |
missense |
probably damaging |
0.96 |
R1614:Pecam1
|
UTSW |
11 |
106,571,905 (GRCm39) |
missense |
probably benign |
0.00 |
R1950:Pecam1
|
UTSW |
11 |
106,576,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R1994:Pecam1
|
UTSW |
11 |
106,586,763 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3149:Pecam1
|
UTSW |
11 |
106,575,107 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4022:Pecam1
|
UTSW |
11 |
106,545,986 (GRCm39) |
missense |
probably benign |
0.00 |
R4418:Pecam1
|
UTSW |
11 |
106,586,748 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4747:Pecam1
|
UTSW |
11 |
106,575,072 (GRCm39) |
missense |
probably benign |
0.29 |
R4828:Pecam1
|
UTSW |
11 |
106,590,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R5798:Pecam1
|
UTSW |
11 |
106,586,658 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5864:Pecam1
|
UTSW |
11 |
106,575,076 (GRCm39) |
nonsense |
probably null |
|
R5942:Pecam1
|
UTSW |
11 |
106,552,809 (GRCm39) |
intron |
probably benign |
|
R5966:Pecam1
|
UTSW |
11 |
106,581,887 (GRCm39) |
missense |
probably benign |
0.44 |
R6285:Pecam1
|
UTSW |
11 |
106,576,065 (GRCm39) |
missense |
probably benign |
0.02 |
R6519:Pecam1
|
UTSW |
11 |
106,590,468 (GRCm39) |
missense |
probably benign |
0.01 |
R7078:Pecam1
|
UTSW |
11 |
106,579,773 (GRCm39) |
missense |
probably benign |
0.06 |
R7135:Pecam1
|
UTSW |
11 |
106,579,857 (GRCm39) |
missense |
probably damaging |
0.99 |
R7215:Pecam1
|
UTSW |
11 |
106,586,745 (GRCm39) |
missense |
probably benign |
0.15 |
R7574:Pecam1
|
UTSW |
11 |
106,590,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R7795:Pecam1
|
UTSW |
11 |
106,586,658 (GRCm39) |
nonsense |
probably null |
|
R7855:Pecam1
|
UTSW |
11 |
106,562,576 (GRCm39) |
missense |
probably benign |
0.00 |
R8296:Pecam1
|
UTSW |
11 |
106,579,745 (GRCm39) |
missense |
probably benign |
0.01 |
R9058:Pecam1
|
UTSW |
11 |
106,590,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R9109:Pecam1
|
UTSW |
11 |
106,586,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R9215:Pecam1
|
UTSW |
11 |
106,579,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R9371:Pecam1
|
UTSW |
11 |
106,581,947 (GRCm39) |
missense |
probably benign |
0.10 |
R9567:Pecam1
|
UTSW |
11 |
106,588,121 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAACAAGCAGTAGGGTCAGTCTC -3'
(R):5'- TCTGTCTCAGTGGAAGATTGCCAAC -3'
Sequencing Primer
(F):5'- AGAAAAGGTCCTGCCTTTCC -3'
(R):5'- cctcttgcctttacctccc -3'
|
Posted On |
2014-04-24 |