Incidental Mutation 'R4022:Pecam1'
| ID |
475279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pecam1
|
| Ensembl Gene |
ENSMUSG00000020717 |
| Gene Name |
platelet/endothelial cell adhesion molecule 1 |
| Synonyms |
PECAM-1, Cd31 |
| MMRRC Submission |
040956-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R4022 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
106545039-106606107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106545986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 693
(N693D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080853]
[ENSMUST00000103069]
[ENSMUST00000106796]
[ENSMUST00000183610]
|
| AlphaFold |
Q08481 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080853
AA Change: N712D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000079664
Gene: ENSMUSG00000020717
AA Change: N712D
| 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
AA Change: N693D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000099358
Gene: ENSMUSG00000020717
AA Change: N693D
| 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 |
silent
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 |
silent
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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (58/59) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abo |
T |
A |
2: 26,733,812 (GRCm39) |
Y131F |
probably damaging |
Het |
| Adcy4 |
C |
T |
14: 56,012,635 (GRCm39) |
|
probably null |
Het |
| Ago3 |
T |
A |
4: 126,262,386 (GRCm39) |
N388I |
probably benign |
Het |
| Arfgef2 |
G |
T |
2: 166,715,865 (GRCm39) |
V1385L |
probably benign |
Het |
| Camk2a |
A |
T |
18: 61,097,000 (GRCm39) |
K28* |
probably null |
Het |
| Ccdc180 |
T |
A |
4: 45,904,560 (GRCm39) |
Y385* |
probably null |
Het |
| Cd209g |
A |
T |
8: 4,185,955 (GRCm39) |
Q46L |
possibly damaging |
Het |
| Cdh22 |
T |
C |
2: 164,999,173 (GRCm39) |
T220A |
probably benign |
Het |
| Cltc |
A |
T |
11: 86,611,174 (GRCm39) |
C562S |
probably damaging |
Het |
| Cyp2c55 |
T |
A |
19: 39,023,878 (GRCm39) |
|
probably null |
Het |
| Cyp2d34 |
A |
G |
15: 82,502,809 (GRCm39) |
V139A |
probably benign |
Het |
| Ddias |
G |
T |
7: 92,510,686 (GRCm39) |
D105E |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 109,913,465 (GRCm39) |
D1223G |
possibly damaging |
Het |
| Dnajb11 |
A |
G |
16: 22,688,196 (GRCm39) |
D238G |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
| Erbb2 |
T |
G |
11: 98,326,123 (GRCm39) |
C966W |
probably benign |
Het |
| Exoc1 |
C |
T |
5: 76,697,417 (GRCm39) |
T405I |
possibly damaging |
Het |
| Fbxo28 |
T |
C |
1: 182,157,475 (GRCm39) |
N108S |
possibly damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,352,409 (GRCm39) |
E157G |
probably benign |
Het |
| Gstcd |
C |
T |
3: 132,787,829 (GRCm39) |
V290M |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,089,425 (GRCm39) |
V2A |
possibly damaging |
Het |
| Ilrun |
T |
C |
17: 28,005,236 (GRCm39) |
E107G |
probably damaging |
Het |
| Itsn2 |
G |
A |
12: 4,674,927 (GRCm39) |
R23H |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lax1 |
C |
T |
1: 133,610,774 (GRCm39) |
G105S |
probably benign |
Het |
| Lin7c |
G |
T |
2: 109,726,790 (GRCm39) |
|
probably null |
Het |
| Lrrn2 |
T |
C |
1: 132,866,852 (GRCm39) |
V639A |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,269,504 (GRCm39) |
S576P |
probably benign |
Het |
| Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
| Mast4 |
G |
T |
13: 102,990,377 (GRCm39) |
A48E |
probably damaging |
Het |
| Mat2a |
G |
A |
6: 72,413,227 (GRCm39) |
R168C |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,037,200 (GRCm39) |
V700A |
probably damaging |
Het |
| Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
| Myh2 |
G |
T |
11: 67,070,230 (GRCm39) |
E421* |
probably null |
Het |
| Or12d2 |
T |
A |
17: 37,625,165 (GRCm39) |
I37L |
probably benign |
Het |
| Or5k17 |
T |
C |
16: 58,746,483 (GRCm39) |
I150M |
possibly damaging |
Het |
| Ppip5k1 |
C |
T |
2: 121,168,108 (GRCm39) |
R715H |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 16,977,384 (GRCm39) |
T40A |
probably damaging |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Reln |
T |
C |
5: 22,432,628 (GRCm39) |
Q124R |
probably benign |
Het |
| Rnf17 |
C |
T |
14: 56,697,458 (GRCm39) |
H451Y |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Sall3 |
T |
A |
18: 81,013,055 (GRCm39) |
E1127V |
probably benign |
Het |
| Sertad3 |
A |
G |
7: 27,176,120 (GRCm39) |
N185D |
probably damaging |
Het |
| Sox1 |
A |
G |
8: 12,446,719 (GRCm39) |
Y120C |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,956,546 (GRCm39) |
I881F |
probably benign |
Het |
| Spart |
G |
T |
3: 55,025,157 (GRCm39) |
V251L |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,534,636 (GRCm39) |
E3631G |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,721,480 (GRCm39) |
T848A |
probably benign |
Het |
| Tmem11 |
T |
C |
11: 60,756,154 (GRCm39) |
D12G |
possibly damaging |
Het |
| Trim28 |
T |
C |
7: 12,762,485 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
T |
A |
6: 115,524,948 (GRCm39) |
V49E |
probably damaging |
Het |
| Tspan1 |
C |
T |
4: 116,024,232 (GRCm39) |
M10I |
probably benign |
Het |
| Uncx |
A |
T |
5: 139,532,444 (GRCm39) |
T170S |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,236,421 (GRCm39) |
|
probably benign |
Het |
| Vmn1r84 |
T |
C |
7: 12,095,857 (GRCm39) |
I267V |
probably benign |
Het |
| Zfp488 |
T |
A |
14: 33,693,110 (GRCm39) |
M18L |
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 |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2017-04-14 |
Incidental Mutation