Incidental Mutation 'R0040:Pear1'
ID |
15694 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pear1
|
Ensembl Gene |
ENSMUSG00000028073 |
Gene Name |
platelet endothelial aggregation receptor 1 |
Synonyms |
Jedi-1, 3110045G13Rik |
MMRRC Submission |
038334-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0040 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
87656404-87676262 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87661665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 536
(D536G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029714]
[ENSMUST00000079083]
[ENSMUST00000090981]
[ENSMUST00000172590]
[ENSMUST00000172621]
[ENSMUST00000174759]
[ENSMUST00000174219]
[ENSMUST00000174713]
[ENSMUST00000174267]
[ENSMUST00000174776]
[ENSMUST00000173184]
[ENSMUST00000173225]
[ENSMUST00000173468]
|
AlphaFold |
Q8VIK5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029714
AA Change: D536G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000029714 Gene: ENSMUSG00000028073 AA Change: D536G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
EGF
|
102 |
130 |
3.82e-2 |
SMART |
EGF_like
|
132 |
173 |
2.92e1 |
SMART |
EGF_like
|
146 |
185 |
1.92e0 |
SMART |
EGF_like
|
189 |
246 |
1.99e0 |
SMART |
EGF
|
217 |
258 |
1.04e1 |
SMART |
EGF_Lam
|
274 |
313 |
1.21e-4 |
SMART |
EGF
|
312 |
344 |
4.03e-1 |
SMART |
EGF_Lam
|
361 |
402 |
1.33e-1 |
SMART |
EGF
|
401 |
433 |
1.18e-2 |
SMART |
EGF_like
|
449 |
488 |
1.72e0 |
SMART |
EGF
|
487 |
519 |
6.92e0 |
SMART |
EGF_Lam
|
535 |
574 |
2.08e-3 |
SMART |
EGF
|
573 |
605 |
5.49e-3 |
SMART |
EGF_Lam
|
620 |
660 |
1.58e-3 |
SMART |
EGF
|
659 |
691 |
3.1e-2 |
SMART |
EGF
|
702 |
734 |
2.53e1 |
SMART |
transmembrane domain
|
754 |
776 |
N/A |
INTRINSIC |
low complexity region
|
809 |
822 |
N/A |
INTRINSIC |
low complexity region
|
829 |
835 |
N/A |
INTRINSIC |
low complexity region
|
954 |
971 |
N/A |
INTRINSIC |
low complexity region
|
993 |
1002 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1031 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079083
AA Change: D536G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000078090 Gene: ENSMUSG00000028073 AA Change: D536G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
EGF
|
102 |
130 |
3.82e-2 |
SMART |
EGF_like
|
132 |
173 |
2.92e1 |
SMART |
EGF_like
|
146 |
185 |
1.92e0 |
SMART |
EGF_like
|
189 |
246 |
1.99e0 |
SMART |
EGF
|
217 |
258 |
1.04e1 |
SMART |
EGF_Lam
|
274 |
313 |
1.21e-4 |
SMART |
EGF
|
312 |
344 |
4.03e-1 |
SMART |
EGF_Lam
|
361 |
402 |
1.33e-1 |
SMART |
EGF
|
401 |
433 |
1.18e-2 |
SMART |
EGF_like
|
449 |
488 |
1.72e0 |
SMART |
EGF
|
487 |
519 |
6.92e0 |
SMART |
EGF_Lam
|
535 |
574 |
2.08e-3 |
SMART |
EGF
|
573 |
605 |
5.49e-3 |
SMART |
EGF_Lam
|
620 |
660 |
1.58e-3 |
SMART |
EGF
|
659 |
691 |
3.1e-2 |
SMART |
EGF
|
702 |
734 |
2.53e1 |
SMART |
transmembrane domain
|
754 |
776 |
N/A |
INTRINSIC |
low complexity region
|
809 |
822 |
N/A |
INTRINSIC |
low complexity region
|
829 |
835 |
N/A |
INTRINSIC |
low complexity region
|
954 |
971 |
N/A |
INTRINSIC |
low complexity region
|
993 |
1002 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1031 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090981
AA Change: D536G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000088503 Gene: ENSMUSG00000028073 AA Change: D536G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
EGF
|
102 |
130 |
3.82e-2 |
SMART |
EGF_like
|
132 |
173 |
2.92e1 |
SMART |
EGF_like
|
146 |
185 |
1.92e0 |
SMART |
EGF_like
|
189 |
246 |
1.99e0 |
SMART |
EGF
|
217 |
258 |
1.04e1 |
SMART |
EGF_Lam
|
274 |
313 |
1.21e-4 |
SMART |
EGF
|
312 |
344 |
4.03e-1 |
SMART |
EGF_Lam
|
361 |
402 |
1.33e-1 |
SMART |
EGF
|
401 |
433 |
1.18e-2 |
SMART |
EGF_like
|
449 |
488 |
1.72e0 |
SMART |
EGF
|
487 |
519 |
6.92e0 |
SMART |
EGF_Lam
|
535 |
574 |
2.08e-3 |
SMART |
EGF
|
573 |
605 |
5.49e-3 |
SMART |
EGF_Lam
|
620 |
660 |
1.58e-3 |
SMART |
EGF
|
659 |
691 |
3.1e-2 |
SMART |
EGF
|
702 |
734 |
2.53e1 |
SMART |
transmembrane domain
|
754 |
776 |
N/A |
INTRINSIC |
low complexity region
|
809 |
822 |
N/A |
INTRINSIC |
low complexity region
|
829 |
835 |
N/A |
INTRINSIC |
low complexity region
|
954 |
971 |
N/A |
INTRINSIC |
low complexity region
|
993 |
1002 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1031 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172590
|
SMART Domains |
Protein: ENSMUSP00000133480 Gene: ENSMUSG00000028073
Domain | Start | End | E-Value | Type |
Blast:EGF
|
23 |
50 |
8e-13 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172621
AA Change: D536G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000133474 Gene: ENSMUSG00000028073 AA Change: D536G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
EGF
|
102 |
130 |
3.82e-2 |
SMART |
EGF_like
|
132 |
173 |
2.92e1 |
SMART |
EGF_like
|
146 |
185 |
1.92e0 |
SMART |
EGF_like
|
189 |
246 |
1.99e0 |
SMART |
EGF
|
217 |
258 |
1.04e1 |
SMART |
EGF_Lam
|
274 |
313 |
1.21e-4 |
SMART |
EGF
|
312 |
344 |
4.03e-1 |
SMART |
EGF_Lam
|
361 |
402 |
1.33e-1 |
SMART |
EGF
|
401 |
433 |
1.18e-2 |
SMART |
EGF_like
|
449 |
488 |
1.72e0 |
SMART |
EGF
|
487 |
519 |
6.92e0 |
SMART |
EGF_Lam
|
535 |
574 |
2.08e-3 |
SMART |
EGF
|
573 |
605 |
5.49e-3 |
SMART |
EGF_Lam
|
620 |
660 |
1.58e-3 |
SMART |
EGF
|
659 |
691 |
3.1e-2 |
SMART |
EGF
|
702 |
734 |
2.53e1 |
SMART |
transmembrane domain
|
754 |
776 |
N/A |
INTRINSIC |
low complexity region
|
809 |
822 |
N/A |
INTRINSIC |
low complexity region
|
829 |
835 |
N/A |
INTRINSIC |
low complexity region
|
954 |
971 |
N/A |
INTRINSIC |
low complexity region
|
993 |
1002 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1031 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172631
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172669
|
SMART Domains |
Protein: ENSMUSP00000134451 Gene: ENSMUSG00000028073
Domain | Start | End | E-Value | Type |
EGF_like
|
1 |
34 |
1.85e0 |
SMART |
EGF
|
33 |
65 |
3.1e-2 |
SMART |
EGF
|
76 |
108 |
2.53e1 |
SMART |
transmembrane domain
|
128 |
150 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174759
AA Change: D536G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000133323 Gene: ENSMUSG00000028073 AA Change: D536G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
EGF
|
102 |
130 |
3.82e-2 |
SMART |
EGF_like
|
132 |
173 |
2.92e1 |
SMART |
EGF_like
|
146 |
185 |
1.92e0 |
SMART |
EGF_like
|
189 |
246 |
1.99e0 |
SMART |
EGF
|
217 |
258 |
1.04e1 |
SMART |
EGF_Lam
|
274 |
313 |
1.21e-4 |
SMART |
EGF
|
312 |
344 |
4.03e-1 |
SMART |
EGF_Lam
|
361 |
402 |
1.33e-1 |
SMART |
EGF
|
401 |
433 |
1.18e-2 |
SMART |
EGF_like
|
449 |
488 |
1.72e0 |
SMART |
EGF
|
487 |
519 |
6.92e0 |
SMART |
EGF_Lam
|
535 |
574 |
2.08e-3 |
SMART |
EGF
|
573 |
605 |
5.49e-3 |
SMART |
EGF_Lam
|
620 |
660 |
1.58e-3 |
SMART |
EGF
|
659 |
691 |
3.1e-2 |
SMART |
EGF
|
702 |
734 |
2.53e1 |
SMART |
transmembrane domain
|
754 |
776 |
N/A |
INTRINSIC |
low complexity region
|
809 |
822 |
N/A |
INTRINSIC |
low complexity region
|
829 |
835 |
N/A |
INTRINSIC |
low complexity region
|
954 |
971 |
N/A |
INTRINSIC |
low complexity region
|
993 |
1002 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1031 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173747
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173490
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174219
|
SMART Domains |
Protein: ENSMUSP00000133565 Gene: ENSMUSG00000028073
Domain | Start | End | E-Value | Type |
EGF
|
15 |
47 |
4.03e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174713
|
SMART Domains |
Protein: ENSMUSP00000134215 Gene: ENSMUSG00000028073
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174267
|
SMART Domains |
Protein: ENSMUSP00000133626 Gene: ENSMUSG00000028073
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174776
|
SMART Domains |
Protein: ENSMUSP00000133749 Gene: ENSMUSG00000028073
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:EMI
|
23 |
96 |
6.3e-17 |
PFAM |
Blast:FU
|
97 |
120 |
1e-5 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173184
|
SMART Domains |
Protein: ENSMUSP00000134100 Gene: ENSMUSG00000028073
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:EMI
|
23 |
95 |
3.5e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173225
|
SMART Domains |
Protein: ENSMUSP00000134387 Gene: ENSMUSG00000028073
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173468
|
SMART Domains |
Protein: ENSMUSP00000133988 Gene: ENSMUSG00000028073
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:EMI
|
23 |
96 |
2.1e-16 |
PFAM |
EGF
|
102 |
130 |
3.82e-2 |
SMART |
EGF_like
|
132 |
173 |
2.92e1 |
SMART |
EGF
|
184 |
215 |
1.84e1 |
SMART |
|
Meta Mutation Damage Score |
0.1910 |
Coding Region Coverage |
- 1x: 84.2%
- 3x: 77.3%
- 10x: 61.4%
- 20x: 43.8%
|
Validation Efficiency |
96% (74/77) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008] PHENOTYPE: Mice homozygous for a knock-out allele show no apparent defects in hemostasis or thrombus formation. Although in vitro dextran sulfate-induced platelet aggregation is impaired, platelet aggregation initiated with physiological agonists is normal. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
G |
6: 121,622,165 (GRCm39) |
L356R |
possibly damaging |
Het |
Antxr2 |
G |
A |
5: 98,086,284 (GRCm39) |
T441I |
possibly damaging |
Het |
Apcs |
A |
G |
1: 172,722,023 (GRCm39) |
Y108H |
probably benign |
Het |
Arpp21 |
T |
C |
9: 111,976,477 (GRCm39) |
|
probably benign |
Het |
Atcay |
C |
T |
10: 81,046,353 (GRCm39) |
|
probably null |
Het |
Bahcc1 |
A |
G |
11: 120,159,196 (GRCm39) |
D141G |
probably damaging |
Het |
Cacng5 |
A |
T |
11: 107,775,336 (GRCm39) |
L11Q |
probably damaging |
Het |
Ccdc73 |
T |
C |
2: 104,822,429 (GRCm39) |
S793P |
probably damaging |
Het |
Ceacam10 |
A |
G |
7: 24,477,689 (GRCm39) |
Y68C |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,497,212 (GRCm39) |
P3062S |
probably damaging |
Het |
Dctn4 |
A |
G |
18: 60,677,114 (GRCm39) |
N145D |
possibly damaging |
Het |
Dusp12 |
A |
G |
1: 170,708,226 (GRCm39) |
Y164H |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,479,441 (GRCm39) |
D2829G |
probably damaging |
Het |
Fbxl13 |
T |
C |
5: 21,691,371 (GRCm39) |
T671A |
probably damaging |
Het |
Fndc3b |
T |
A |
3: 27,610,266 (GRCm39) |
|
probably null |
Het |
Gprc6a |
T |
A |
10: 51,491,080 (GRCm39) |
K819* |
probably null |
Het |
Gucy2g |
T |
A |
19: 55,205,734 (GRCm39) |
T709S |
possibly damaging |
Het |
Gxylt1 |
A |
T |
15: 93,152,436 (GRCm39) |
|
probably benign |
Het |
Idh2 |
A |
G |
7: 79,747,570 (GRCm39) |
S317P |
probably damaging |
Het |
Ifi30 |
T |
C |
8: 71,216,421 (GRCm39) |
|
probably null |
Het |
Ifna16 |
G |
A |
4: 88,594,867 (GRCm39) |
A76V |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,246,638 (GRCm39) |
E1127K |
probably damaging |
Het |
Kank4 |
A |
G |
4: 98,667,457 (GRCm39) |
V330A |
probably benign |
Het |
Kri1 |
T |
C |
9: 21,192,401 (GRCm39) |
Y131C |
probably damaging |
Het |
Krt71 |
T |
A |
15: 101,646,868 (GRCm39) |
H280L |
possibly damaging |
Het |
Lox |
A |
T |
18: 52,653,898 (GRCm39) |
H399Q |
possibly damaging |
Het |
Mapt |
A |
G |
11: 104,196,224 (GRCm39) |
M446V |
probably damaging |
Het |
Mpp7 |
A |
T |
18: 7,403,180 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,461,708 (GRCm39) |
V1447A |
probably benign |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Myo1b |
A |
T |
1: 51,821,148 (GRCm39) |
I451N |
probably damaging |
Het |
Nubp1 |
A |
G |
16: 10,238,981 (GRCm39) |
T199A |
probably damaging |
Het |
Olfml2b |
A |
G |
1: 170,496,320 (GRCm39) |
H317R |
probably benign |
Het |
Pard3b |
A |
T |
1: 62,676,979 (GRCm39) |
Y1170F |
probably damaging |
Het |
Pira6 |
A |
G |
7: 4,284,482 (GRCm39) |
|
noncoding transcript |
Het |
Pkhd1l1 |
T |
A |
15: 44,437,021 (GRCm39) |
Y3460N |
probably damaging |
Het |
Plxna2 |
G |
T |
1: 194,326,204 (GRCm39) |
R46L |
probably benign |
Het |
Rnf168 |
T |
A |
16: 32,096,991 (GRCm39) |
|
probably null |
Het |
Rpl14 |
C |
G |
9: 120,401,167 (GRCm39) |
F3L |
possibly damaging |
Het |
Scara5 |
C |
T |
14: 66,000,166 (GRCm39) |
|
probably benign |
Het |
Sh3rf1 |
T |
A |
8: 61,782,286 (GRCm39) |
Y143N |
possibly damaging |
Het |
Slc4a8 |
T |
A |
15: 100,687,727 (GRCm39) |
I288N |
probably damaging |
Het |
Synpr |
G |
A |
14: 13,563,024 (GRCm38) |
A86T |
probably damaging |
Het |
Ttc38 |
C |
A |
15: 85,725,690 (GRCm39) |
F184L |
probably damaging |
Het |
Wdpcp |
A |
G |
11: 21,661,638 (GRCm39) |
I303M |
probably damaging |
Het |
Zc3h12d |
G |
A |
10: 7,743,678 (GRCm39) |
A483T |
probably benign |
Het |
Zfp106 |
C |
A |
2: 120,362,094 (GRCm39) |
K1008N |
probably damaging |
Het |
Zfp68 |
G |
A |
5: 138,606,041 (GRCm39) |
T94I |
probably benign |
Het |
Zfp867 |
C |
T |
11: 59,354,691 (GRCm39) |
A213T |
possibly damaging |
Het |
Zkscan3 |
A |
T |
13: 21,579,090 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Pear1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00326:Pear1
|
APN |
3 |
87,659,423 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01810:Pear1
|
APN |
3 |
87,659,608 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02269:Pear1
|
APN |
3 |
87,663,571 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02635:Pear1
|
APN |
3 |
87,657,453 (GRCm39) |
makesense |
probably null |
|
R0040:Pear1
|
UTSW |
3 |
87,661,665 (GRCm39) |
missense |
probably damaging |
0.99 |
R0050:Pear1
|
UTSW |
3 |
87,663,294 (GRCm39) |
nonsense |
probably null |
|
R0050:Pear1
|
UTSW |
3 |
87,663,294 (GRCm39) |
nonsense |
probably null |
|
R0090:Pear1
|
UTSW |
3 |
87,661,649 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0547:Pear1
|
UTSW |
3 |
87,696,107 (GRCm39) |
splice site |
probably null |
|
R1024:Pear1
|
UTSW |
3 |
87,667,606 (GRCm39) |
unclassified |
probably benign |
|
R1612:Pear1
|
UTSW |
3 |
87,659,160 (GRCm39) |
critical splice donor site |
probably null |
|
R1637:Pear1
|
UTSW |
3 |
87,664,060 (GRCm39) |
missense |
probably damaging |
0.97 |
R1772:Pear1
|
UTSW |
3 |
87,661,799 (GRCm39) |
unclassified |
probably benign |
|
R1888:Pear1
|
UTSW |
3 |
87,717,882 (GRCm39) |
splice site |
probably benign |
|
R2129:Pear1
|
UTSW |
3 |
87,665,666 (GRCm39) |
nonsense |
probably null |
|
R2255:Pear1
|
UTSW |
3 |
87,659,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R3551:Pear1
|
UTSW |
3 |
87,665,439 (GRCm39) |
missense |
probably benign |
|
R3855:Pear1
|
UTSW |
3 |
87,659,228 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4021:Pear1
|
UTSW |
3 |
87,663,529 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4546:Pear1
|
UTSW |
3 |
87,661,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R5364:Pear1
|
UTSW |
3 |
87,665,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R5447:Pear1
|
UTSW |
3 |
87,666,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R5504:Pear1
|
UTSW |
3 |
87,660,002 (GRCm39) |
splice site |
probably benign |
|
R6026:Pear1
|
UTSW |
3 |
87,664,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R6061:Pear1
|
UTSW |
3 |
87,663,238 (GRCm39) |
missense |
probably benign |
0.02 |
R6155:Pear1
|
UTSW |
3 |
87,666,875 (GRCm39) |
missense |
probably damaging |
0.97 |
R6175:Pear1
|
UTSW |
3 |
87,659,440 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6339:Pear1
|
UTSW |
3 |
87,659,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R6385:Pear1
|
UTSW |
3 |
87,661,506 (GRCm39) |
missense |
probably benign |
0.00 |
R6715:Pear1
|
UTSW |
3 |
87,666,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R6929:Pear1
|
UTSW |
3 |
87,666,872 (GRCm39) |
nonsense |
probably null |
|
R7088:Pear1
|
UTSW |
3 |
87,661,945 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7097:Pear1
|
UTSW |
3 |
87,658,752 (GRCm39) |
missense |
probably benign |
0.00 |
R7229:Pear1
|
UTSW |
3 |
87,657,596 (GRCm39) |
missense |
probably benign |
0.00 |
R7334:Pear1
|
UTSW |
3 |
87,657,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R7526:Pear1
|
UTSW |
3 |
87,659,875 (GRCm39) |
missense |
probably damaging |
0.99 |
R7872:Pear1
|
UTSW |
3 |
87,659,522 (GRCm39) |
missense |
probably benign |
|
R8925:Pear1
|
UTSW |
3 |
87,661,890 (GRCm39) |
missense |
probably damaging |
0.99 |
R8927:Pear1
|
UTSW |
3 |
87,661,890 (GRCm39) |
missense |
probably damaging |
0.99 |
R9014:Pear1
|
UTSW |
3 |
87,658,479 (GRCm39) |
missense |
probably benign |
|
R9405:Pear1
|
UTSW |
3 |
87,659,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R9455:Pear1
|
UTSW |
3 |
87,666,488 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9593:Pear1
|
UTSW |
3 |
87,658,480 (GRCm39) |
missense |
probably benign |
0.04 |
R9637:Pear1
|
UTSW |
3 |
87,666,412 (GRCm39) |
missense |
probably benign |
0.23 |
X0063:Pear1
|
UTSW |
3 |
87,661,379 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pear1
|
UTSW |
3 |
87,658,647 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Protein Function and Prediction |
Platelet endothelial aggregation receptor 1 (Pear1) is a type 1 membrane protein of the multiple epidermal growth factor (EGF)-like domain family that signals upon the formation of platelet-platelet contact (1-3). During platelet aggregation, PEAR1 is phosphorylated and recruits p85 PI3K, subsequently leading to the persistant activation of PI3K and Akt and the amplification of αIIbβ3 activation (3). Amplification of αIIbβ3 activation results in the stabilization of platelet aggregates (3). Pear1 also function in apoptotic neuron clearance in the embryonic dorsal root ganglia via an engulfment-dependent activity (4). SNPs in PEAR1 are linked to increased or decreased platelet responses to various agonists (2;5-7).
|
Expression/Localization |
Pear1 is most highly expressed in platelets and endothelial cells followed by megakaryocytes, osteoblasts, coronary smooth muscle cells, and erythroid cells (1). Pear1 is also expressed in satellite glial cell precursors (4). In human tissues, PEAR1 expression was detected in heart, kidney, skeletal muscle, pancreas, ovary, breast, lung, brain cortex, hypothalamus, spinal cord, and dorsal root ganglion; expression was not detected in liver, small intestine, and colon (1).
|
References |
1. Nanda, N., Bao, M., Lin, H., Clauser, K., Komuves, L., Quertermous, T., Conley, P. B., Phillips, D. R., and Hart, M. J. (2005) Platelet Endothelial Aggregation Receptor 1 (PEAR1), a Novel Epidermal Growth Factor Repeat-Containing Transmembrane Receptor, Participates in Platelet Contact-Induced Activation. J Biol Chem. 280, 24680-24689.
2. Faraday, N., Yanek, L. R., Yang, X. P., Mathias, R., Herrera-Galeano, J. E., Suktitipat, B., Qayyum, R., Johnson, A. D., Chen, M. H., Tofler, G. H., Ruczinski, I., Friedman, A. D., Gylfason, A., Thorsteinsdottir, U., Bray, P. F., O'Donnell, C. J., Becker, D. M., and Becker, L. C. (2011) Identification of a Specific Intronic PEAR1 Gene Variant Associated with Greater Platelet Aggregability and Protein Expression. Blood. 118, 3367-3375.
3. Kauskot, A., Di Michele, M., Loyen, S., Freson, K., Verhamme, P., and Hoylaerts, M. F. (2012) A Novel Mechanism of Sustained Platelet alphaIIbbeta3 Activation Via PEAR1. Blood. 119, 4056-4065.
4. Wu, H. H., Bellmunt, E., Scheib, J. L., Venegas, V., Burkert, C., Reichardt, L. F., Zhou, Z., Farinas, I., and Carter, B. D. (2009) Glial Precursors Clear Sensory Neuron Corpses during Development Via Jedi-1, an Engulfment Receptor. Nat Neurosci. 12, 1534-1541.
5. Jones, C. I., Bray, S., Garner, S. F., Stephens, J., de Bono, B., Angenent, W. G., Bentley, D., Burns, P., Coffey, A., Deloukas, P., Earthrowl, M., Farndale, R. W., Hoylaerts, M. F., Koch, K., Rankin, A., Rice, C. M., Rogers, J., Samani, N. J., Steward, M., Walker, A., Watkins, N. A., Akkerman, J. W., Dudbridge, F., Goodall, A. H., Ouwehand, W. H., and Bloodomics Consortium. (2009) A Functional Genomics Approach Reveals Novel Quantitative Trait Loci Associated with Platelet Signaling Pathways. Blood. 114, 1405-1416.
6. Johnson, A. D., Yanek, L. R., Chen, M. H., Faraday, N., Larson, M. G., Tofler, G., Lin, S. J., Kraja, A. T., Province, M. A., Yang, Q., Becker, D. M., O'Donnell, C. J., and Becker, L. C. (2010) Genome-Wide Meta-Analyses Identifies Seven Loci Associated with Platelet Aggregation in Response to Agonists. Nat Genet. 42, 608-613.
7. Herrera-Galeano, J. E., Becker, D. M., Wilson, A. F., Yanek, L. R., Bray, P., Vaidya, D., Faraday, N., and Becker, L. C. (2008) A Novel Variant in the Platelet Endothelial Aggregation Receptor-1 Gene is Associated with Increased Platelet Aggregability. Arterioscler Thromb Vasc Biol. 28, 1484-1490.
|
Posted On |
2012-12-21 |
Science Writer |
Anne Murray |