Incidental Mutation 'R6519:Pecam1'
ID |
521020 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pecam1
|
Ensembl Gene |
ENSMUSG00000020717 |
Gene Name |
platelet/endothelial cell adhesion molecule 1 |
Synonyms |
PECAM-1, Cd31 |
MMRRC Submission |
044646-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R6519 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
106545039-106606107 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106590468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 102
(M102K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138959
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068021]
[ENSMUST00000080853]
[ENSMUST00000103069]
[ENSMUST00000106796]
[ENSMUST00000124958]
[ENSMUST00000183610]
|
AlphaFold |
Q08481 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068021
AA Change: M102K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000067111 Gene: ENSMUSG00000020717 AA Change: M102K
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: M102K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000079664 Gene: ENSMUSG00000020717 AA Change: M102K
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: M102K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099358 Gene: ENSMUSG00000020717 AA Change: M102K
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: M102K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102408 Gene: ENSMUSG00000020717 AA Change: M102K
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: ENSMUST00000124958
AA Change: M74K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122414 Gene: ENSMUSG00000020717 AA Change: M74K
Domain | Start | End | E-Value | Type |
IG
|
4 |
90 |
1.5e-6 |
SMART |
Pfam:Ig_2
|
94 |
191 |
2.9e-1 |
PFAM |
IG_like
|
202 |
283 |
5.7e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183610
AA Change: M102K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000138959 Gene: ENSMUSG00000020717 AA Change: M102K
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: 97.5%
- 20x: 91.7%
|
Validation Efficiency |
97% (58/60) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
T |
C |
9: 99,495,723 (GRCm39) |
I53T |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,715,462 (GRCm39) |
D909N |
probably benign |
Het |
Ahdc1 |
T |
C |
4: 132,792,079 (GRCm39) |
Y1107H |
possibly damaging |
Het |
Aldob |
A |
T |
4: 49,543,835 (GRCm39) |
V49E |
probably damaging |
Het |
Apol6 |
T |
A |
15: 76,935,476 (GRCm39) |
Y248* |
probably null |
Het |
Apol7b |
T |
A |
15: 77,307,548 (GRCm39) |
T316S |
probably benign |
Het |
Atp13a2 |
G |
C |
4: 140,728,165 (GRCm39) |
R503P |
possibly damaging |
Het |
Brca2 |
A |
C |
5: 150,464,444 (GRCm39) |
T1403P |
probably damaging |
Het |
Cblc |
T |
C |
7: 19,526,788 (GRCm39) |
Y148C |
probably damaging |
Het |
Cct7 |
C |
A |
6: 85,439,132 (GRCm39) |
Q149K |
probably benign |
Het |
Cd53 |
T |
A |
3: 106,669,461 (GRCm39) |
H179L |
probably benign |
Het |
Cyp2b19 |
A |
G |
7: 26,458,536 (GRCm39) |
T84A |
probably benign |
Het |
Cyp3a41a |
A |
G |
5: 145,652,308 (GRCm39) |
C64R |
probably damaging |
Het |
Dclre1c |
T |
C |
2: 3,430,366 (GRCm39) |
Y75H |
probably damaging |
Het |
Dhx35 |
A |
T |
2: 158,673,630 (GRCm39) |
I354F |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,203,771 (GRCm39) |
N629S |
probably damaging |
Het |
Dnase1 |
A |
T |
16: 3,856,453 (GRCm39) |
S132C |
probably damaging |
Het |
Dnttip2 |
T |
C |
3: 122,069,120 (GRCm39) |
S112P |
probably benign |
Het |
Eif4g3 |
C |
A |
4: 137,721,319 (GRCm39) |
P48T |
probably benign |
Het |
Fat4 |
A |
T |
3: 39,057,020 (GRCm39) |
T4239S |
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,196,647 (GRCm39) |
V1419A |
possibly damaging |
Het |
Ghitm |
A |
C |
14: 36,847,204 (GRCm39) |
M290R |
probably damaging |
Het |
Glb1l |
T |
C |
1: 75,177,700 (GRCm39) |
D406G |
probably benign |
Het |
Glipr1l1 |
C |
A |
10: 111,898,153 (GRCm39) |
A86D |
probably benign |
Het |
Golm2 |
T |
C |
2: 121,737,218 (GRCm39) |
V141A |
probably benign |
Het |
Grm7 |
C |
T |
6: 111,184,713 (GRCm39) |
A348V |
probably benign |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Hdac2 |
T |
A |
10: 36,865,252 (GRCm39) |
N155K |
probably damaging |
Het |
Hus1b |
A |
G |
13: 31,130,930 (GRCm39) |
I243T |
probably benign |
Het |
Kcnab2 |
T |
C |
4: 152,496,450 (GRCm39) |
T65A |
probably damaging |
Het |
Lasp1 |
T |
A |
11: 97,706,383 (GRCm39) |
|
probably null |
Het |
Lrch3 |
G |
A |
16: 32,815,367 (GRCm39) |
|
probably benign |
Het |
Ltb4r2 |
C |
T |
14: 56,000,438 (GRCm39) |
T353M |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,366,118 (GRCm39) |
M1316T |
probably benign |
Het |
Msr1 |
G |
A |
8: 40,077,262 (GRCm39) |
T116I |
probably benign |
Het |
Nlrp5 |
A |
G |
7: 23,117,343 (GRCm39) |
I356V |
probably benign |
Het |
Npy |
C |
T |
6: 49,800,669 (GRCm39) |
S31F |
possibly damaging |
Het |
Nsd3 |
C |
T |
8: 26,152,955 (GRCm39) |
P432S |
probably damaging |
Het |
Nup160 |
A |
C |
2: 90,548,561 (GRCm39) |
R1037S |
probably damaging |
Het |
Or12j4 |
T |
A |
7: 140,046,458 (GRCm39) |
S115T |
probably benign |
Het |
Or4b1d |
A |
T |
2: 89,969,156 (GRCm39) |
I109N |
possibly damaging |
Het |
Or8s5 |
C |
T |
15: 98,237,929 (GRCm39) |
G314R |
probably benign |
Het |
Pcx |
A |
G |
19: 4,652,239 (GRCm39) |
E108G |
possibly damaging |
Het |
Pgd |
G |
T |
4: 149,235,343 (GRCm39) |
Y433* |
probably null |
Het |
Pkd1l3 |
A |
G |
8: 110,355,404 (GRCm39) |
E744G |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,535,503 (GRCm39) |
I118T |
probably benign |
Het |
Rdh11 |
T |
A |
12: 79,229,589 (GRCm39) |
H228L |
probably damaging |
Het |
Rnf44 |
C |
T |
13: 54,829,599 (GRCm39) |
R340Q |
probably damaging |
Het |
Rtraf |
A |
G |
14: 19,869,998 (GRCm39) |
V88A |
possibly damaging |
Het |
Sigmar1 |
T |
C |
4: 41,739,380 (GRCm39) |
T185A |
possibly damaging |
Het |
Thsd1 |
A |
G |
8: 22,749,081 (GRCm39) |
R590G |
probably damaging |
Het |
Trappc14 |
A |
G |
5: 138,260,110 (GRCm39) |
S344P |
probably damaging |
Het |
Trbv19 |
T |
C |
6: 41,155,573 (GRCm39) |
|
probably benign |
Het |
Txnrd3 |
T |
C |
6: 89,631,405 (GRCm39) |
|
probably null |
Het |
Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
Xpnpep1 |
T |
C |
19: 53,000,275 (GRCm39) |
N192D |
possibly damaging |
Het |
Zfp955b |
T |
A |
17: 33,521,051 (GRCm39) |
S173R |
possibly damaging |
Het |
Zranb1 |
T |
A |
7: 132,551,857 (GRCm39) |
C195* |
probably null |
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 |
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'- TTTCAGGTCAGGATGCCAGG -3'
(R):5'- TGAATGGGCAGCAACTGAC -3'
Sequencing Primer
(F):5'- TCAGGATGCCAGGTAGTGAAC -3'
(R):5'- AACTGACCCTGGAGTGCCTTG -3'
|
Posted On |
2018-06-06 |