Incidental Mutation 'IGL02124:Pecam1'
| ID |
280763 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pecam1
|
| Ensembl Gene |
ENSMUSG00000020717 |
| Gene Name |
platelet/endothelial cell adhesion molecule 1 |
| Synonyms |
PECAM-1, Cd31 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL02124
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
106545039-106606107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106581807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 380
(G380S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068021]
[ENSMUST00000080853]
[ENSMUST00000103069]
[ENSMUST00000106796]
[ENSMUST00000124958]
[ENSMUST00000183610]
|
| AlphaFold |
Q08481 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068021
AA Change: G380S
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000067111
Gene: ENSMUSG00000020717
AA Change: G380S
| 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 damaging
Transcript: ENSMUST00000080853
AA Change: G380S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079664
Gene: ENSMUSG00000020717
AA Change: G380S
| 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 damaging
Transcript: ENSMUST00000103069
AA Change: G380S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099358
Gene: ENSMUSG00000020717
AA Change: G380S
| 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 damaging
Transcript: ENSMUST00000106796
AA Change: G380S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102408
Gene: ENSMUSG00000020717
AA Change: G380S
| 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 benign
Transcript: ENSMUST00000124958
|
| SMART Domains |
Protein: ENSMUSP00000122414
Gene: ENSMUSG00000020717
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
4 |
90 |
1.5e-6 |
SMART |
|
Pfam:Ig_2
|
94 |
191 |
2.9e-1 |
PFAM |
|
IG_like
|
202 |
283 |
5.7e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135481
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183610
AA Change: G279S
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000138959
Gene: ENSMUSG00000020717
AA Change: G279S
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
T |
C |
2: 127,028,654 (GRCm39) |
R182G |
possibly damaging |
Het |
| Casd1 |
A |
T |
6: 4,624,142 (GRCm39) |
I312F |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,413,557 (GRCm39) |
T395A |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,405,381 (GRCm39) |
I1717T |
probably benign |
Het |
| Ces1f |
A |
T |
8: 93,992,488 (GRCm39) |
V321E |
possibly damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,886,832 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,327,099 (GRCm39) |
F1416L |
unknown |
Het |
| Cplx4 |
T |
C |
18: 66,103,123 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
T |
2: 13,386,648 (GRCm39) |
I1539N |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,878,696 (GRCm39) |
T562A |
probably benign |
Het |
| Dnmt1 |
C |
A |
9: 20,819,845 (GRCm39) |
V1433F |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,680,251 (GRCm39) |
L436P |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,117,841 (GRCm39) |
I783V |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,942,553 (GRCm39) |
V482E |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,734,927 (GRCm39) |
E400V |
probably benign |
Het |
| Folh1 |
T |
C |
7: 86,374,626 (GRCm39) |
D656G |
probably damaging |
Het |
| Frem3 |
A |
C |
8: 81,339,723 (GRCm39) |
D672A |
probably damaging |
Het |
| G3bp2 |
A |
G |
5: 92,221,106 (GRCm39) |
M3T |
possibly damaging |
Het |
| Gm973 |
C |
T |
1: 59,621,632 (GRCm39) |
Q26* |
probably null |
Het |
| Hsp90b1 |
T |
C |
10: 86,541,222 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,246,125 (GRCm39) |
|
probably null |
Het |
| Lpin3 |
T |
C |
2: 160,737,753 (GRCm39) |
|
probably null |
Het |
| Mtss2 |
G |
A |
8: 111,464,256 (GRCm39) |
R295Q |
probably damaging |
Het |
| Muc5b |
G |
T |
7: 141,409,369 (GRCm39) |
W1151L |
unknown |
Het |
| Myo3a |
A |
G |
2: 22,467,538 (GRCm39) |
Y264C |
probably benign |
Het |
| Or4c123 |
A |
G |
2: 89,127,407 (GRCm39) |
V69A |
probably benign |
Het |
| Or55b3 |
T |
C |
7: 102,126,742 (GRCm39) |
T112A |
possibly damaging |
Het |
| Or5p60 |
T |
A |
7: 107,724,249 (GRCm39) |
I74L |
probably benign |
Het |
| Phf21a |
C |
T |
2: 92,179,767 (GRCm39) |
T345I |
probably damaging |
Het |
| Polg |
G |
A |
7: 79,109,485 (GRCm39) |
S444L |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,401,027 (GRCm39) |
Y486H |
probably damaging |
Het |
| Scg5 |
G |
A |
2: 113,622,382 (GRCm39) |
|
probably benign |
Het |
| Septin5 |
G |
T |
16: 18,443,579 (GRCm39) |
D123E |
probably damaging |
Het |
| Skint6 |
G |
A |
4: 112,944,993 (GRCm39) |
T483I |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,091,581 (GRCm39) |
|
probably benign |
Het |
| Tepsin |
T |
C |
11: 119,982,547 (GRCm39) |
R440G |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,959,947 (GRCm39) |
V649E |
probably damaging |
Het |
| Usf3 |
C |
A |
16: 44,040,019 (GRCm39) |
Q1500K |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,568 (GRCm39) |
S116G |
probably damaging |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,035 (GRCm39) |
I312L |
probably benign |
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 |
|
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 |
|
R1628:Pecam1
|
UTSW |
11 |
106,573,786 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation