Incidental Mutation 'R7855:Pecam1'
| ID |
607199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pecam1
|
| Ensembl Gene |
ENSMUSG00000020717 |
| Gene Name |
platelet/endothelial cell adhesion molecule 1 |
| Synonyms |
PECAM-1, Cd31 |
| MMRRC Submission |
045908-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R7855 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
106545039-106606107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106562576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 708
(V708A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068021]
[ENSMUST00000080853]
[ENSMUST00000103069]
[ENSMUST00000106796]
[ENSMUST00000183610]
|
| AlphaFold |
Q08481 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068021
AA Change: V708A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000067111
Gene: ENSMUSG00000020717
AA Change: V708A
| 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: V708A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000079664
Gene: ENSMUSG00000020717
AA Change: V708A
| 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 benign
Transcript: ENSMUST00000106796
AA Change: V708A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102408
Gene: ENSMUSG00000020717
AA Change: V708A
| 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: V607A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000138959
Gene: ENSMUSG00000020717
AA Change: V607A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,082,454 (GRCm39) |
V1173D |
probably benign |
Het |
| Ace |
A |
T |
11: 105,863,205 (GRCm39) |
M327L |
probably benign |
Het |
| Bcl2l2 |
C |
T |
14: 55,121,836 (GRCm39) |
|
probably benign |
Het |
| Bicdl2 |
C |
T |
17: 23,884,991 (GRCm39) |
Q231* |
probably null |
Het |
| Brms1l |
A |
T |
12: 55,912,838 (GRCm39) |
D277V |
possibly damaging |
Het |
| Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
| Col6a3 |
G |
T |
1: 90,738,343 (GRCm39) |
P1059T |
possibly damaging |
Het |
| Coro1c |
A |
T |
5: 113,986,658 (GRCm39) |
M262K |
probably benign |
Het |
| Cpxm2 |
G |
T |
7: 131,659,424 (GRCm39) |
P481Q |
possibly damaging |
Het |
| Dipk1c |
G |
A |
18: 84,748,171 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,551,286 (GRCm39) |
V2543F |
probably benign |
Het |
| Dock2 |
A |
C |
11: 34,223,698 (GRCm39) |
D1145E |
probably damaging |
Het |
| Elf3 |
G |
A |
1: 135,182,090 (GRCm39) |
R364W |
probably damaging |
Het |
| Eln |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
5: 134,739,935 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,593,923 (GRCm39) |
I55T |
probably damaging |
Het |
| Gfer |
C |
A |
17: 24,913,259 (GRCm39) |
D198Y |
probably damaging |
Het |
| Gm11568 |
A |
T |
11: 99,749,010 (GRCm39) |
T72S |
unknown |
Het |
| Igkv3-1 |
C |
T |
6: 70,681,053 (GRCm39) |
A84V |
probably benign |
Het |
| Il1rl2 |
A |
C |
1: 40,382,279 (GRCm39) |
Y197S |
probably damaging |
Het |
| Il2ra |
T |
C |
2: 11,685,147 (GRCm39) |
I161T |
possibly damaging |
Het |
| Itgb8 |
C |
T |
12: 119,130,507 (GRCm39) |
R667H |
probably benign |
Het |
| Kcnh7 |
G |
A |
2: 62,667,538 (GRCm39) |
Q334* |
probably null |
Het |
| Lctl |
A |
C |
9: 64,040,498 (GRCm39) |
R480S |
possibly damaging |
Het |
| Lrba |
T |
G |
3: 86,222,737 (GRCm39) |
I617S |
possibly damaging |
Het |
| Marf1 |
G |
T |
16: 13,932,065 (GRCm39) |
H1651N |
probably benign |
Het |
| Mitf |
T |
A |
6: 97,970,157 (GRCm39) |
Y142N |
probably damaging |
Het |
| Or51v14 |
T |
A |
7: 103,260,979 (GRCm39) |
I194F |
possibly damaging |
Het |
| Or52r1 |
A |
G |
7: 102,536,835 (GRCm39) |
V175A |
probably benign |
Het |
| Pinlyp |
C |
T |
7: 24,241,865 (GRCm39) |
|
probably null |
Het |
| Polh |
G |
A |
17: 46,486,174 (GRCm39) |
R382W |
probably damaging |
Het |
| Pramel51 |
A |
T |
12: 88,142,853 (GRCm39) |
I450N |
probably benign |
Het |
| Prdm10 |
A |
G |
9: 31,238,770 (GRCm39) |
I221V |
probably benign |
Het |
| Pskh1 |
G |
T |
8: 106,639,722 (GRCm39) |
R134L |
probably benign |
Het |
| Ptpre |
A |
G |
7: 135,253,724 (GRCm39) |
N6D |
probably benign |
Het |
| Rasgrp4 |
C |
T |
7: 28,850,035 (GRCm39) |
P58L |
unknown |
Het |
| Rhbdf2 |
G |
T |
11: 116,493,066 (GRCm39) |
C393* |
probably null |
Het |
| Rlf |
T |
C |
4: 121,039,888 (GRCm39) |
I174M |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,721,509 (GRCm39) |
R2641* |
probably null |
Het |
| Semp2l1 |
A |
C |
1: 32,585,114 (GRCm39) |
I265M |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,672,645 (GRCm39) |
H331R |
probably benign |
Het |
| Skp2 |
A |
G |
15: 9,122,328 (GRCm39) |
S256P |
probably benign |
Het |
| Smarcd2 |
T |
C |
11: 106,158,392 (GRCm39) |
R10G |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,687,981 (GRCm39) |
L480P |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,523,081 (GRCm39) |
H1541R |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,556,008 (GRCm39) |
L489Q |
probably damaging |
Het |
| Ttll13 |
C |
T |
7: 79,903,845 (GRCm39) |
H258Y |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,522,508 (GRCm39) |
R237G |
possibly damaging |
Het |
| Vmn1r55 |
A |
G |
7: 5,149,623 (GRCm39) |
F267L |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,130 (GRCm39) |
M761K |
possibly damaging |
Het |
| Vps33a |
G |
A |
5: 123,709,042 (GRCm39) |
H58Y |
possibly damaging |
Het |
| Zfp1002 |
C |
T |
2: 150,097,066 (GRCm39) |
R121Q |
probably benign |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp467 |
T |
C |
6: 48,416,115 (GRCm39) |
Q179R |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,768,067 (GRCm39) |
S721T |
possibly damaging |
Het |
| Zfta |
T |
A |
19: 7,399,621 (GRCm39) |
I456N |
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 |
|
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 |
|
|
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'- GGTGCTCAGAGATGTGCTTC -3'
(R):5'- GAACTTCTGAAGCTGGGGAATG -3'
Sequencing Primer
(F):5'- GGAAGTGATGTCCCACACCTTTAATC -3'
(R):5'- GCTGGGGAATGATGATATACTCG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation