Incidental Mutation 'IGL02487:Pecam1'
| ID |
295462 |
| 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 # |
IGL02487
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
106545039-106606107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106562606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 698
(T698I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068021]
[ENSMUST00000080853]
[ENSMUST00000103069]
[ENSMUST00000106796]
[ENSMUST00000183610]
|
| AlphaFold |
Q08481 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068021
AA Change: T698I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067111
Gene: ENSMUSG00000020717
AA Change: T698I
| 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: T698I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079664
Gene: ENSMUSG00000020717
AA Change: T698I
| 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 benign
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 damaging
Transcript: ENSMUST00000106796
AA Change: T698I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102408
Gene: ENSMUSG00000020717
AA Change: T698I
| 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 damaging
Transcript: ENSMUST00000183610
AA Change: T597I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138959
Gene: ENSMUSG00000020717
AA Change: T597I
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
T |
A |
11: 54,227,769 (GRCm39) |
I308N |
possibly damaging |
Het |
| Adal |
C |
T |
2: 120,985,877 (GRCm39) |
T204I |
probably benign |
Het |
| Akirin1 |
A |
G |
4: 123,637,357 (GRCm39) |
F76S |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,260,916 (GRCm39) |
N1447I |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| B230217C12Rik |
A |
G |
11: 97,733,054 (GRCm39) |
N125S |
probably benign |
Het |
| Dcaf11 |
G |
T |
14: 55,806,571 (GRCm39) |
K457N |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,870,916 (GRCm39) |
V2348M |
possibly damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,930,689 (GRCm39) |
V1665A |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,394 (GRCm39) |
I96F |
probably damaging |
Het |
| Gm29253 |
T |
C |
1: 75,149,321 (GRCm39) |
|
probably null |
Het |
| Gvin-ps6 |
A |
G |
7: 106,022,471 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnpm |
C |
A |
17: 33,867,787 (GRCm39) |
G676C |
probably damaging |
Het |
| Iah1 |
T |
C |
12: 21,371,440 (GRCm39) |
M185T |
probably damaging |
Het |
| Klc1 |
A |
T |
12: 111,738,886 (GRCm39) |
I45F |
probably damaging |
Het |
| Lce1h |
G |
A |
3: 92,671,048 (GRCm39) |
P35S |
unknown |
Het |
| Lrrc37a |
T |
C |
11: 103,386,863 (GRCm39) |
E2419G |
unknown |
Het |
| Lrrc8c |
T |
A |
5: 105,754,457 (GRCm39) |
S77R |
probably benign |
Het |
| Mcm3ap |
T |
A |
10: 76,343,389 (GRCm39) |
|
probably benign |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Ntng1 |
A |
T |
3: 109,842,363 (GRCm39) |
S137T |
probably damaging |
Het |
| Odf2 |
C |
A |
2: 29,810,851 (GRCm39) |
A578E |
possibly damaging |
Het |
| Pex10 |
A |
T |
4: 155,155,190 (GRCm39) |
H288L |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,322,822 (GRCm39) |
V36A |
possibly damaging |
Het |
| Podxl |
T |
C |
6: 31,499,957 (GRCm39) |
*504W |
probably null |
Het |
| Rab42 |
A |
G |
4: 132,029,614 (GRCm39) |
S203P |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,288,698 (GRCm39) |
S192P |
probably damaging |
Het |
| Scap |
C |
T |
9: 110,207,758 (GRCm39) |
T489I |
probably benign |
Het |
| Sost |
C |
A |
11: 101,857,633 (GRCm39) |
R56L |
possibly damaging |
Het |
| Speer4a3 |
T |
A |
5: 26,156,605 (GRCm39) |
I125F |
probably benign |
Het |
| Spmip10 |
T |
A |
18: 56,727,571 (GRCm39) |
W90R |
possibly damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,118,522 (GRCm39) |
V264A |
probably damaging |
Het |
| Stx3 |
A |
G |
19: 11,760,469 (GRCm39) |
V236A |
probably damaging |
Het |
| Syt2 |
T |
C |
1: 134,668,603 (GRCm39) |
F5S |
probably damaging |
Het |
| Thrap3 |
T |
C |
4: 126,060,794 (GRCm39) |
D855G |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,332,769 (GRCm39) |
V874A |
possibly damaging |
Het |
| Tmem26 |
A |
G |
10: 68,614,563 (GRCm39) |
E326G |
probably benign |
Het |
| Tsga13 |
A |
T |
6: 30,884,362 (GRCm39) |
Y119N |
probably damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,653,342 (GRCm39) |
T136I |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,065,500 (GRCm39) |
T425A |
probably benign |
Het |
| Ttc27 |
A |
G |
17: 75,163,549 (GRCm39) |
Y719C |
probably damaging |
Het |
| Usp10 |
C |
A |
8: 120,675,514 (GRCm39) |
S511Y |
probably damaging |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,792 (GRCm39) |
M238V |
probably damaging |
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 |
|
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