Incidental Mutation 'R1614:Pecam1'
ID |
177011 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pecam1
|
Ensembl Gene |
ENSMUSG00000020717 |
Gene Name |
platelet/endothelial cell adhesion molecule 1 |
Synonyms |
PECAM-1, Cd31 |
MMRRC Submission |
039651-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R1614 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
106545039-106606107 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106571905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 554
(D554G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138959
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068021]
[ENSMUST00000080853]
[ENSMUST00000103069]
[ENSMUST00000106796]
[ENSMUST00000183610]
|
AlphaFold |
Q08481 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068021
AA Change: D655G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000067111 Gene: ENSMUSG00000020717 AA Change: D655G
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 benign
Transcript: ENSMUST00000080853
AA Change: D655G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000079664 Gene: ENSMUSG00000020717 AA Change: D655G
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: D655G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000099358 Gene: ENSMUSG00000020717 AA Change: D655G
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 benign
Transcript: ENSMUST00000106796
AA Change: D655G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102408 Gene: ENSMUSG00000020717 AA Change: D655G
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: ENSMUST00000183610
AA Change: D554G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138959 Gene: ENSMUSG00000020717 AA Change: D554G
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.4%
|
Validation Efficiency |
100% (53/53) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl9 |
A |
G |
5: 77,158,412 (GRCm39) |
T165A |
probably benign |
Het |
Atpaf1 |
A |
T |
4: 115,653,954 (GRCm39) |
K201N |
possibly damaging |
Het |
Cacna1b |
G |
T |
2: 24,580,819 (GRCm39) |
Q676K |
possibly damaging |
Het |
Ccdc88c |
A |
T |
12: 100,879,243 (GRCm39) |
H1959Q |
probably benign |
Het |
Cep162 |
T |
C |
9: 87,094,985 (GRCm39) |
D808G |
probably damaging |
Het |
Chct1 |
T |
G |
11: 85,063,690 (GRCm39) |
S28A |
possibly damaging |
Het |
Chtf18 |
A |
G |
17: 25,946,064 (GRCm39) |
L42P |
probably benign |
Het |
Cox7c |
A |
G |
13: 86,193,904 (GRCm39) |
F40L |
probably benign |
Het |
Dock7 |
C |
T |
4: 98,949,517 (GRCm39) |
V442I |
probably benign |
Het |
Dst |
T |
C |
1: 34,314,344 (GRCm39) |
F4198S |
probably damaging |
Het |
Fam13a |
T |
A |
6: 58,917,169 (GRCm39) |
D569V |
probably damaging |
Het |
Gm6741 |
T |
A |
17: 91,544,424 (GRCm39) |
H62Q |
probably benign |
Het |
Gnptab |
A |
G |
10: 88,250,451 (GRCm39) |
T172A |
probably benign |
Het |
Greb1 |
A |
G |
12: 16,751,172 (GRCm39) |
S1013P |
probably damaging |
Het |
Insl5 |
A |
T |
4: 102,883,846 (GRCm39) |
L25* |
probably null |
Het |
Ipo13 |
A |
G |
4: 117,761,815 (GRCm39) |
S462P |
probably benign |
Het |
Itgb1 |
G |
A |
8: 129,446,546 (GRCm39) |
C401Y |
probably damaging |
Het |
Kcnh7 |
G |
T |
2: 62,680,948 (GRCm39) |
A213E |
probably benign |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Mesp2 |
T |
C |
7: 79,461,367 (GRCm39) |
S231P |
probably benign |
Het |
Nabp1 |
T |
C |
1: 51,510,511 (GRCm39) |
N164D |
possibly damaging |
Het |
Nop53 |
A |
G |
7: 15,679,890 (GRCm39) |
V30A |
probably benign |
Het |
Or1j17 |
T |
G |
2: 36,578,321 (GRCm39) |
Y102* |
probably null |
Het |
Or4a73 |
T |
A |
2: 89,421,040 (GRCm39) |
I140L |
possibly damaging |
Het |
Or4f54 |
T |
A |
2: 111,123,411 (GRCm39) |
V266E |
probably damaging |
Het |
Or4f62 |
T |
A |
2: 111,986,862 (GRCm39) |
C189S |
probably damaging |
Het |
Pcsk5 |
G |
A |
19: 17,492,620 (GRCm39) |
R918C |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,634,199 (GRCm39) |
I744V |
possibly damaging |
Het |
Pop1 |
C |
A |
15: 34,530,356 (GRCm39) |
A918D |
possibly damaging |
Het |
Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
Prmt3 |
A |
T |
7: 49,476,467 (GRCm39) |
I359F |
possibly damaging |
Het |
Proz |
G |
A |
8: 13,116,904 (GRCm39) |
C152Y |
probably damaging |
Het |
Ptgfr |
A |
C |
3: 151,507,416 (GRCm39) |
Y316D |
probably benign |
Het |
Ralgapa2 |
G |
T |
2: 146,230,532 (GRCm39) |
S1011Y |
probably damaging |
Het |
Rnf43 |
C |
T |
11: 87,622,485 (GRCm39) |
R529* |
probably null |
Het |
Slc17a6 |
G |
A |
7: 51,296,025 (GRCm39) |
|
probably benign |
Het |
Slc25a19 |
A |
T |
11: 115,507,449 (GRCm39) |
C224* |
probably null |
Het |
Smarcd3 |
A |
G |
5: 24,799,874 (GRCm39) |
S299P |
possibly damaging |
Het |
Stard9 |
T |
C |
2: 120,528,156 (GRCm39) |
F1471S |
possibly damaging |
Het |
Strada |
A |
C |
11: 106,059,145 (GRCm39) |
V211G |
probably damaging |
Het |
Tom1l1 |
T |
C |
11: 90,574,080 (GRCm39) |
E68G |
probably damaging |
Het |
Vmn2r27 |
T |
G |
6: 124,200,893 (GRCm39) |
I355L |
probably benign |
Het |
Vmn2r68 |
A |
T |
7: 84,870,946 (GRCm39) |
M779K |
possibly damaging |
Het |
Zbtb18 |
T |
C |
1: 177,274,736 (GRCm39) |
L23P |
probably damaging |
Het |
Zfp112 |
G |
T |
7: 23,826,024 (GRCm39) |
C664F |
probably damaging |
Het |
Zfp955a |
A |
T |
17: 33,461,306 (GRCm39) |
N275K |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCATCACCATTCAGAACACTGGC -3'
(R):5'- TCACATCAATGGGTAAGGGCACAC -3'
Sequencing Primer
(F):5'- ctagaactctctatgtccgcc -3'
(R):5'- CACACATACATGAGTGAGAACGAac -3'
|
Posted On |
2014-04-24 |