Incidental Mutation 'R0090:Pear1'
ID |
20118 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pear1
|
Ensembl Gene |
ENSMUSG00000028073 |
Gene Name |
platelet endothelial aggregation receptor 1 |
Synonyms |
Jedi-1, 3110045G13Rik |
MMRRC Submission |
038377-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0090 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
3 |
Chromosomal Location |
87656404-87676262 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87661649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 541
(D541E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029714]
[ENSMUST00000079083]
[ENSMUST00000090981]
[ENSMUST00000172590]
[ENSMUST00000172621]
[ENSMUST00000174759]
[ENSMUST00000174267]
[ENSMUST00000173184]
[ENSMUST00000173225]
[ENSMUST00000173468]
[ENSMUST00000174219]
[ENSMUST00000174776]
[ENSMUST00000174713]
|
AlphaFold |
Q8VIK5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029714
AA Change: D541E
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000029714 Gene: ENSMUSG00000028073 AA Change: D541E
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 |
possibly damaging
Transcript: ENSMUST00000079083
AA Change: D541E
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000078090 Gene: ENSMUSG00000028073 AA Change: D541E
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 |
possibly damaging
Transcript: ENSMUST00000090981
AA Change: D541E
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000088503 Gene: ENSMUSG00000028073 AA Change: D541E
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 |
possibly damaging
Transcript: ENSMUST00000172621
AA Change: D541E
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133474 Gene: ENSMUSG00000028073 AA Change: D541E
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 |
possibly damaging
Transcript: ENSMUST00000174759
AA Change: D541E
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133323 Gene: ENSMUSG00000028073 AA Change: D541E
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: ENSMUST00000173490
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173747
|
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: 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 |
|
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: 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: ENSMUST00000174713
|
SMART Domains |
Protein: ENSMUSP00000134215 Gene: ENSMUSG00000028073
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0621 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.7%
- 20x: 91.4%
|
Validation Efficiency |
99% (90/91) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
4933427I04Rik |
A |
G |
4: 123,754,775 (GRCm39) |
T230A |
possibly damaging |
Het |
Acsm1 |
T |
C |
7: 119,261,412 (GRCm39) |
|
probably benign |
Het |
Acta1 |
T |
C |
8: 124,620,396 (GRCm39) |
N14S |
probably damaging |
Het |
Aff4 |
A |
G |
11: 53,283,609 (GRCm39) |
T362A |
probably benign |
Het |
Aggf1 |
A |
G |
13: 95,501,467 (GRCm39) |
I305T |
probably benign |
Het |
Ap4b1 |
A |
G |
3: 103,727,745 (GRCm39) |
D325G |
possibly damaging |
Het |
Ap4e1 |
C |
T |
2: 126,906,905 (GRCm39) |
T1055I |
possibly damaging |
Het |
Arhgef2 |
A |
T |
3: 88,546,655 (GRCm39) |
Q496L |
probably damaging |
Het |
Arhgef28 |
A |
G |
13: 98,211,618 (GRCm39) |
F122L |
probably damaging |
Het |
Baiap3 |
G |
A |
17: 25,469,044 (GRCm39) |
|
probably benign |
Het |
Casp8ap2 |
T |
A |
4: 32,640,327 (GRCm39) |
H460Q |
probably damaging |
Het |
Casz1 |
A |
G |
4: 149,017,868 (GRCm39) |
T386A |
probably benign |
Het |
Cd53 |
A |
T |
3: 106,674,725 (GRCm39) |
V114E |
possibly damaging |
Het |
Celsr2 |
A |
G |
3: 108,300,643 (GRCm39) |
|
probably benign |
Het |
Cfap300 |
T |
A |
9: 8,027,184 (GRCm39) |
N118I |
probably benign |
Het |
Chaf1b |
G |
T |
16: 93,684,012 (GRCm39) |
A88S |
possibly damaging |
Het |
Cldn10 |
A |
T |
14: 119,111,612 (GRCm39) |
Y194F |
probably damaging |
Het |
Clec2e |
A |
C |
6: 129,072,181 (GRCm39) |
|
probably null |
Het |
Cmpk2 |
A |
T |
12: 26,528,021 (GRCm39) |
T413S |
probably benign |
Het |
Col9a1 |
T |
A |
1: 24,262,643 (GRCm39) |
|
probably null |
Het |
Dchs1 |
G |
T |
7: 105,405,139 (GRCm39) |
Q2468K |
probably benign |
Het |
Ddx60 |
A |
G |
8: 62,395,327 (GRCm39) |
D88G |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 31,003,064 (GRCm39) |
R3588G |
probably benign |
Het |
Ect2 |
T |
C |
3: 27,169,625 (GRCm39) |
T774A |
probably benign |
Het |
Ect2 |
C |
T |
3: 27,192,651 (GRCm39) |
E431K |
probably null |
Het |
Ern1 |
A |
G |
11: 106,296,649 (GRCm39) |
V767A |
probably damaging |
Het |
Fbln1 |
A |
C |
15: 85,108,489 (GRCm39) |
E75A |
possibly damaging |
Het |
Fgf5 |
C |
T |
5: 98,409,846 (GRCm39) |
R132* |
probably null |
Het |
Folh1 |
T |
C |
7: 86,375,076 (GRCm39) |
|
probably benign |
Het |
Gdf15 |
A |
T |
8: 71,082,334 (GRCm39) |
H257Q |
probably damaging |
Het |
Ghitm |
T |
C |
14: 36,844,176 (GRCm39) |
T322A |
probably benign |
Het |
Gm5709 |
A |
G |
3: 59,526,192 (GRCm39) |
|
noncoding transcript |
Het |
Hbb-y |
C |
T |
7: 103,501,950 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
A |
T |
2: 31,316,210 (GRCm39) |
D3771V |
probably damaging |
Het |
Hspa12a |
T |
C |
19: 58,787,941 (GRCm39) |
D627G |
probably benign |
Het |
Idh2 |
T |
C |
7: 79,747,662 (GRCm39) |
E286G |
probably damaging |
Het |
Idh3b |
C |
A |
2: 130,122,899 (GRCm39) |
A297S |
probably benign |
Het |
Igsf3 |
A |
G |
3: 101,342,968 (GRCm39) |
E535G |
probably damaging |
Het |
Ilf3 |
T |
A |
9: 21,306,710 (GRCm39) |
D314E |
probably damaging |
Het |
Itgb8 |
A |
G |
12: 119,166,298 (GRCm39) |
S78P |
probably benign |
Het |
Itih5 |
G |
A |
2: 10,169,495 (GRCm39) |
V31I |
probably benign |
Het |
Kcnj2 |
T |
C |
11: 110,963,853 (GRCm39) |
V415A |
probably benign |
Het |
Kin |
A |
G |
2: 10,090,584 (GRCm39) |
Q53R |
possibly damaging |
Het |
Krt78 |
A |
T |
15: 101,856,272 (GRCm39) |
M513K |
probably benign |
Het |
Krtap4-8 |
A |
T |
11: 99,671,312 (GRCm39) |
|
probably benign |
Het |
Ltbr |
T |
C |
6: 125,286,412 (GRCm39) |
|
probably benign |
Het |
Mgat4a |
G |
A |
1: 37,529,414 (GRCm39) |
T146I |
probably damaging |
Het |
Mrps2 |
G |
C |
2: 28,358,268 (GRCm39) |
W19C |
probably damaging |
Het |
Mthfs |
T |
C |
9: 89,093,344 (GRCm39) |
S33P |
probably damaging |
Het |
Myh6 |
T |
C |
14: 55,196,161 (GRCm39) |
D546G |
probably damaging |
Het |
Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
Ndst2 |
T |
C |
14: 20,777,335 (GRCm39) |
T553A |
probably damaging |
Het |
Nlrp12 |
T |
C |
7: 3,288,664 (GRCm39) |
E616G |
probably damaging |
Het |
Nrde2 |
T |
C |
12: 100,095,545 (GRCm39) |
|
probably benign |
Het |
Nup210l |
G |
A |
3: 90,119,086 (GRCm39) |
V1832I |
probably benign |
Het |
Or1e1c |
G |
A |
11: 73,266,402 (GRCm39) |
V276I |
probably benign |
Het |
Or4k77 |
A |
T |
2: 111,199,639 (GRCm39) |
I221F |
probably damaging |
Het |
Pcm1 |
A |
T |
8: 41,709,078 (GRCm39) |
E9D |
probably damaging |
Het |
Peg10 |
A |
G |
6: 4,756,063 (GRCm39) |
|
probably benign |
Het |
Prss1 |
G |
A |
6: 41,438,166 (GRCm39) |
R31Q |
probably benign |
Het |
Ptpn13 |
T |
C |
5: 103,717,369 (GRCm39) |
V1837A |
probably damaging |
Het |
Rasgrp3 |
A |
G |
17: 75,805,456 (GRCm39) |
D149G |
probably damaging |
Het |
Reg3d |
A |
T |
6: 78,355,466 (GRCm39) |
H8Q |
possibly damaging |
Het |
Rhox4f |
A |
C |
X: 36,789,122 (GRCm39) |
V15G |
probably benign |
Het |
Sacs |
T |
A |
14: 61,442,889 (GRCm39) |
L1645H |
probably damaging |
Het |
Slc16a5 |
A |
T |
11: 115,355,751 (GRCm39) |
S71C |
probably damaging |
Het |
Slc9a3 |
A |
G |
13: 74,306,847 (GRCm39) |
E324G |
probably damaging |
Het |
Smgc |
T |
C |
15: 91,743,960 (GRCm39) |
V574A |
possibly damaging |
Het |
Stac3 |
C |
T |
10: 127,339,799 (GRCm39) |
|
probably benign |
Het |
Supv3l1 |
A |
G |
10: 62,265,485 (GRCm39) |
L685P |
probably benign |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Tas2r125 |
G |
T |
6: 132,887,361 (GRCm39) |
A250S |
probably benign |
Het |
Tdrd6 |
C |
T |
17: 43,939,132 (GRCm39) |
V639I |
probably benign |
Het |
Thap12 |
T |
G |
7: 98,365,100 (GRCm39) |
W423G |
probably damaging |
Het |
Tmem245 |
T |
C |
4: 56,899,410 (GRCm39) |
I217V |
probably benign |
Het |
Trip12 |
T |
A |
1: 84,709,857 (GRCm39) |
|
probably benign |
Het |
Tshz3 |
T |
C |
7: 36,468,317 (GRCm39) |
V102A |
probably benign |
Het |
Ubap1 |
T |
C |
4: 41,379,826 (GRCm39) |
S347P |
probably damaging |
Het |
Usp10 |
C |
T |
8: 120,679,935 (GRCm39) |
Q612* |
probably null |
Het |
Vmn2r72 |
T |
C |
7: 85,404,084 (GRCm39) |
I36V |
probably benign |
Het |
Vps37a |
T |
C |
8: 40,980,030 (GRCm39) |
I63T |
possibly damaging |
Het |
Whrn |
C |
A |
4: 63,350,969 (GRCm39) |
R9L |
possibly damaging |
Het |
Xrcc1 |
T |
C |
7: 24,269,642 (GRCm39) |
Y401H |
probably damaging |
Het |
Ylpm1 |
GCCTAAGCAGCAACCTAAG |
GCCTAAG |
12: 85,075,814 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
G |
A |
8: 109,676,689 (GRCm39) |
D2580N |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,308,685 (GRCm39) |
N637S |
probably damaging |
Het |
Zfp268 |
A |
T |
4: 145,349,195 (GRCm39) |
K211* |
probably null |
Het |
Zyg11a |
A |
T |
4: 108,058,544 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAACCACCCTGGAGATGGGAGTC -3'
(R):5'- CCAAACTGGAGCCTGTACTTGCAC -3'
Sequencing Primer
(F):5'- GCAGTTGGCTCCCCAAAAG -3'
(R):5'- ATGGTGCTCACTGCCAG -3'
|
Posted On |
2013-04-11 |