Incidental Mutation 'R5864:Pecam1'
| ID |
454081 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5864 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
106545039-106606107 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 106575076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 510
(C510*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068021]
[ENSMUST00000080853]
[ENSMUST00000103069]
[ENSMUST00000106796]
[ENSMUST00000183610]
|
| AlphaFold |
Q08481 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068021
AA Change: C611*
|
| SMART Domains |
Protein: ENSMUSP00000067111
Gene: ENSMUSG00000020717
AA Change: C611*
| 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
AA Change: C611*
|
| SMART Domains |
Protein: ENSMUSP00000079664
Gene: ENSMUSG00000020717
AA Change: C611*
| 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
AA Change: C611*
|
| SMART Domains |
Protein: ENSMUSP00000099358
Gene: ENSMUSG00000020717
AA Change: C611*
| 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
AA Change: C611*
|
| SMART Domains |
Protein: ENSMUSP00000102408
Gene: ENSMUSG00000020717
AA Change: C611*
| 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 |
noncoding transcript
Transcript: ENSMUST00000135481
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183610
AA Change: C510*
|
| SMART Domains |
Protein: ENSMUSP00000138959
Gene: ENSMUSG00000020717
AA Change: C510*
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
A |
T |
12: 84,090,178 (GRCm39) |
I292F |
probably benign |
Het |
| Adamdec1 |
A |
G |
14: 68,807,551 (GRCm39) |
S370P |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,698,324 (GRCm39) |
K692R |
probably benign |
Het |
| Ano6 |
T |
C |
15: 95,818,261 (GRCm39) |
|
probably null |
Het |
| Asns |
G |
A |
6: 7,675,443 (GRCm39) |
Q520* |
probably null |
Het |
| Bbs12 |
C |
T |
3: 37,373,639 (GRCm39) |
T144I |
probably damaging |
Het |
| C8g |
C |
T |
2: 25,388,955 (GRCm39) |
G186D |
probably damaging |
Het |
| Clptm1l |
T |
C |
13: 73,754,403 (GRCm39) |
F109S |
probably damaging |
Het |
| Coa8 |
G |
A |
12: 111,717,652 (GRCm39) |
V171I |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,252,973 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
T |
C |
16: 30,078,501 (GRCm39) |
D400G |
probably damaging |
Het |
| Dgke |
G |
C |
11: 88,941,288 (GRCm39) |
Y298* |
probably null |
Het |
| Dnah5 |
G |
A |
15: 28,297,159 (GRCm39) |
R1451Q |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,038,584 (GRCm39) |
D90G |
probably damaging |
Het |
| Dok7 |
A |
C |
5: 35,223,890 (GRCm39) |
D143A |
probably damaging |
Het |
| Elk3 |
G |
A |
10: 93,120,653 (GRCm39) |
A62V |
probably damaging |
Het |
| Epha2 |
T |
A |
4: 141,035,738 (GRCm39) |
M58K |
probably damaging |
Het |
| Erp27 |
G |
T |
6: 136,885,098 (GRCm39) |
D233E |
probably benign |
Het |
| Gm5174 |
T |
A |
10: 86,493,045 (GRCm39) |
|
noncoding transcript |
Het |
| Gxylt2 |
A |
G |
6: 100,760,107 (GRCm39) |
D214G |
probably damaging |
Het |
| Hrob |
G |
A |
11: 102,145,972 (GRCm39) |
E83K |
probably benign |
Het |
| Ifi35 |
A |
T |
11: 101,349,069 (GRCm39) |
I238F |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,311,467 (GRCm39) |
T983A |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,881,748 (GRCm39) |
R766W |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,403,374 (GRCm39) |
K2066N |
possibly damaging |
Het |
| Mansc1 |
T |
G |
6: 134,587,816 (GRCm39) |
|
probably null |
Het |
| Mapre3 |
T |
C |
5: 31,020,582 (GRCm39) |
F101S |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,812,357 (GRCm39) |
T58A |
probably benign |
Het |
| Mical1 |
G |
T |
10: 41,362,064 (GRCm39) |
R857L |
possibly damaging |
Het |
| Nacad |
T |
C |
11: 6,550,581 (GRCm39) |
D870G |
probably benign |
Het |
| Nectin1 |
A |
G |
9: 43,702,607 (GRCm39) |
D118G |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,325,380 (GRCm39) |
L26Q |
probably damaging |
Het |
| Or10a3m |
A |
G |
7: 108,312,671 (GRCm39) |
D25G |
probably benign |
Het |
| Pamr1 |
T |
C |
2: 102,464,693 (GRCm39) |
S281P |
possibly damaging |
Het |
| Pcdhgc5 |
T |
A |
18: 37,954,814 (GRCm39) |
V696E |
probably damaging |
Het |
| Pde4d |
G |
T |
13: 110,074,582 (GRCm39) |
A396S |
probably benign |
Het |
| Pga5 |
C |
T |
19: 10,652,513 (GRCm39) |
G76S |
probably damaging |
Het |
| Phldb3 |
A |
T |
7: 24,323,571 (GRCm39) |
H435L |
possibly damaging |
Het |
| Piezo1 |
T |
C |
8: 123,213,112 (GRCm39) |
R1884G |
possibly damaging |
Het |
| Ripk4 |
T |
C |
16: 97,564,782 (GRCm39) |
H43R |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,412,476 (GRCm39) |
V785A |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,873,491 (GRCm39) |
|
probably benign |
Het |
| Sephs1 |
T |
C |
2: 4,910,393 (GRCm39) |
F288L |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,586,266 (GRCm39) |
|
probably null |
Het |
| Siglece |
A |
G |
7: 43,308,741 (GRCm39) |
L204P |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,857,151 (GRCm39) |
D380G |
probably damaging |
Het |
| Slamf9 |
G |
T |
1: 172,304,033 (GRCm39) |
R126L |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 42,003,669 (GRCm39) |
L209P |
probably damaging |
Het |
| Sptbn1 |
A |
C |
11: 30,095,925 (GRCm39) |
I310S |
probably damaging |
Het |
| Tex52 |
A |
G |
6: 128,356,645 (GRCm39) |
T113A |
probably benign |
Het |
| Trav6-3 |
T |
A |
14: 53,667,628 (GRCm39) |
Y33* |
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,943 (GRCm39) |
E836G |
possibly damaging |
Het |
| Wdsub1 |
C |
T |
2: 59,708,819 (GRCm39) |
C18Y |
probably damaging |
Het |
| Zfp341 |
C |
A |
2: 154,485,474 (GRCm39) |
H637N |
possibly damaging |
Het |
| Zfp445 |
C |
T |
9: 122,682,552 (GRCm39) |
S463N |
probably benign |
Het |
| Zfp612 |
G |
A |
8: 110,816,358 (GRCm39) |
D522N |
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 |
|
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 |
|
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'- GGTATAATGTCACCCACATCCC -3'
(R):5'- CAAAATGGGGTCTGAGTTGCTG -3'
Sequencing Primer
(F):5'- GGCTTGCCCAACTCCAC -3'
(R):5'- CTGAGTTGCTGCTTAAATCTGC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation