Incidental Mutation 'R0547:Pear1'
ID |
261931 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pear1
|
Ensembl Gene |
ENSMUSG00000028073 |
Gene Name |
platelet endothelial aggregation receptor 1 |
Synonyms |
Jedi-1, 3110045G13Rik |
MMRRC Submission |
038739-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0547 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
87656404-87676262 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 87696107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029712]
[ENSMUST00000029714]
[ENSMUST00000090981]
|
AlphaFold |
Q8VIK5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000029712
|
SMART Domains |
Protein: ENSMUSP00000029712 Gene: ENSMUSG00000028072
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
Pfam:LRR_8
|
91 |
150 |
8.9e-14 |
PFAM |
Pfam:TPKR_C2
|
151 |
194 |
4.9e-15 |
PFAM |
IG
|
202 |
285 |
3.2e-2 |
SMART |
low complexity region
|
419 |
442 |
N/A |
INTRINSIC |
TyrKc
|
513 |
784 |
2.31e-142 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000029714
|
SMART Domains |
Protein: ENSMUSP00000029714 Gene: ENSMUSG00000028073
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 null
Transcript: ENSMUST00000090981
|
SMART Domains |
Protein: ENSMUSP00000088503 Gene: ENSMUSG00000028073
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
98% (57/58) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057N15Rik |
A |
G |
16: 88,570,498 (GRCm39) |
Y181H |
probably benign |
Het |
A530084C06Rik |
A |
G |
13: 31,742,813 (GRCm39) |
|
probably benign |
Het |
Adamtsl1 |
A |
G |
4: 86,274,592 (GRCm39) |
D1208G |
probably benign |
Het |
Ankrd55 |
T |
C |
13: 112,504,757 (GRCm39) |
F501S |
probably benign |
Het |
Aox1 |
G |
A |
1: 58,349,201 (GRCm39) |
D656N |
probably damaging |
Het |
Atr |
A |
T |
9: 95,781,218 (GRCm39) |
|
probably benign |
Het |
Bicra |
G |
A |
7: 15,706,173 (GRCm39) |
R1423W |
probably damaging |
Het |
Cabyr |
T |
A |
18: 12,884,073 (GRCm39) |
S187T |
probably benign |
Het |
Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
Cdon |
A |
T |
9: 35,368,794 (GRCm39) |
T343S |
possibly damaging |
Het |
Cep350 |
C |
T |
1: 155,777,181 (GRCm39) |
|
probably null |
Het |
Cimap1a |
A |
G |
7: 140,428,728 (GRCm39) |
|
probably null |
Het |
Copa |
T |
C |
1: 171,949,254 (GRCm39) |
|
probably benign |
Het |
Cyp4f18 |
T |
C |
8: 72,749,854 (GRCm39) |
D265G |
probably benign |
Het |
Dgkb |
T |
A |
12: 38,654,157 (GRCm39) |
C759S |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,021,757 (GRCm39) |
M3470V |
probably benign |
Het |
Eif4g2 |
T |
C |
7: 110,677,500 (GRCm39) |
N177S |
probably damaging |
Het |
Etfb |
C |
T |
7: 43,104,002 (GRCm39) |
Q145* |
probably null |
Het |
Flnb |
T |
A |
14: 7,912,943 (GRCm38) |
|
probably null |
Het |
G430095P16Rik |
G |
A |
8: 85,453,271 (GRCm39) |
|
probably benign |
Het |
Gfral |
A |
T |
9: 76,115,924 (GRCm39) |
S17T |
probably benign |
Het |
Gpr26 |
T |
C |
7: 131,586,026 (GRCm39) |
I332T |
probably benign |
Het |
Greb1 |
T |
A |
12: 16,773,412 (GRCm39) |
T221S |
probably benign |
Het |
Haus5 |
A |
T |
7: 30,358,508 (GRCm39) |
S289T |
probably damaging |
Het |
Ighv6-4 |
T |
C |
12: 114,370,221 (GRCm39) |
Y77C |
probably damaging |
Het |
Il23r |
A |
T |
6: 67,400,685 (GRCm39) |
D548E |
probably benign |
Het |
Il23r |
A |
T |
6: 67,463,235 (GRCm39) |
F86Y |
possibly damaging |
Het |
Inppl1 |
A |
T |
7: 101,480,210 (GRCm39) |
M424K |
probably benign |
Het |
Jam3 |
A |
G |
9: 27,010,184 (GRCm39) |
Y267H |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,510,990 (GRCm39) |
N326S |
unknown |
Het |
Mms19 |
A |
T |
19: 41,951,857 (GRCm39) |
M160K |
probably damaging |
Het |
Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
Mup5 |
A |
G |
4: 61,751,237 (GRCm39) |
L137P |
probably damaging |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Ntrk2 |
G |
A |
13: 59,022,184 (GRCm39) |
S413N |
probably damaging |
Het |
Nuak2 |
C |
A |
1: 132,259,941 (GRCm39) |
T573N |
probably benign |
Het |
Or4m1 |
A |
T |
14: 50,557,575 (GRCm39) |
I239K |
probably benign |
Het |
Or52h9 |
G |
A |
7: 104,202,563 (GRCm39) |
V146M |
probably benign |
Het |
Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
Pclo |
T |
A |
5: 14,842,086 (GRCm39) |
I4787N |
unknown |
Het |
Pde8a |
G |
T |
7: 80,973,878 (GRCm39) |
V612L |
probably benign |
Het |
Pgbd1 |
A |
G |
13: 21,607,688 (GRCm39) |
Y169H |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,786,448 (GRCm39) |
|
probably benign |
Het |
Prkag3 |
C |
T |
1: 74,783,879 (GRCm39) |
|
probably null |
Het |
Rsph9 |
A |
T |
17: 46,455,050 (GRCm39) |
S9T |
possibly damaging |
Het |
Rxfp1 |
A |
T |
3: 79,612,876 (GRCm39) |
|
probably null |
Het |
Senp7 |
A |
G |
16: 55,996,189 (GRCm39) |
E756G |
probably damaging |
Het |
Serpina1e |
G |
T |
12: 103,915,450 (GRCm39) |
T252K |
probably benign |
Het |
Sipa1l1 |
T |
A |
12: 82,484,510 (GRCm39) |
S1555T |
probably benign |
Het |
Slain1 |
T |
C |
14: 103,932,711 (GRCm39) |
S432P |
probably damaging |
Het |
Slc37a2 |
A |
T |
9: 37,144,418 (GRCm39) |
|
probably null |
Het |
Thg1l |
C |
T |
11: 45,845,018 (GRCm39) |
R18Q |
probably damaging |
Het |
Tnn |
A |
G |
1: 159,943,907 (GRCm39) |
|
probably benign |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Tshz3 |
A |
G |
7: 36,470,842 (GRCm39) |
T944A |
probably damaging |
Het |
Ttn |
C |
G |
2: 76,684,774 (GRCm39) |
|
probably benign |
Het |
Ythdc2 |
T |
C |
18: 44,973,331 (GRCm39) |
S323P |
possibly damaging |
Het |
Zfp827 |
A |
G |
8: 79,786,939 (GRCm39) |
N35S |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2015-02-04 |