Incidental Mutation 'R5447:Pear1'
| ID |
429116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pear1
|
| Ensembl Gene |
ENSMUSG00000028073 |
| Gene Name |
platelet endothelial aggregation receptor 1 |
| Synonyms |
Jedi-1, 3110045G13Rik |
| MMRRC Submission |
043012-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5447 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87656404-87676262 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87666449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 85
(R85C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029714]
[ENSMUST00000079083]
[ENSMUST00000090981]
[ENSMUST00000172590]
[ENSMUST00000172621]
[ENSMUST00000173184]
[ENSMUST00000173468]
[ENSMUST00000174759]
[ENSMUST00000174776]
[ENSMUST00000174713]
[ENSMUST00000174267]
[ENSMUST00000174219]
[ENSMUST00000173225]
|
| AlphaFold |
Q8VIK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029714
AA Change: R85C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073
AA Change: R85C
| 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: R85C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078090
Gene: ENSMUSG00000028073
AA Change: R85C
| 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: R85C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073
AA Change: R85C
| 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: ENSMUST00000172590
AA Change: R6C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133480
Gene: ENSMUSG00000028073
AA Change: R6C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EGF
|
23 |
50 |
8e-13 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172621
AA Change: R85C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133474
Gene: ENSMUSG00000028073
AA Change: R85C
| 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 damaging
Transcript: ENSMUST00000173184
AA Change: R85C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134100
Gene: ENSMUSG00000028073
AA Change: R85C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
23 |
95 |
3.5e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173468
AA Change: R85C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133988
Gene: ENSMUSG00000028073
AA Change: R85C
| 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 |
noncoding transcript
Transcript: ENSMUST00000173747
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174759
AA Change: R85C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133323
Gene: ENSMUSG00000028073
AA Change: R85C
| 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: ENSMUST00000174776
AA Change: R85C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133749
Gene: ENSMUSG00000028073
AA Change: R85C
| 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 |
noncoding transcript
Transcript: ENSMUST00000173490
|
| 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: 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: ENSMUST00000173225
|
| SMART Domains |
Protein: ENSMUSP00000134387
Gene: ENSMUSG00000028073
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2433 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (71/73) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,891,061 (GRCm39) |
I479V |
probably damaging |
Het |
| Adam30 |
A |
G |
3: 98,068,659 (GRCm39) |
D164G |
probably benign |
Het |
| Adgrl3 |
T |
A |
5: 81,613,188 (GRCm39) |
|
probably benign |
Het |
| Adrb1 |
T |
C |
19: 56,711,519 (GRCm39) |
I239T |
probably benign |
Het |
| Albfm1 |
C |
A |
5: 90,732,169 (GRCm39) |
A458E |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,192,018 (GRCm39) |
T572A |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,744,332 (GRCm39) |
E1391G |
probably damaging |
Het |
| BC016579 |
A |
G |
16: 45,469,252 (GRCm39) |
V72A |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,813,144 (GRCm39) |
I258F |
probably benign |
Het |
| Cdh5 |
A |
T |
8: 104,855,994 (GRCm39) |
D309V |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,881,063 (GRCm39) |
D1042G |
probably damaging |
Het |
| Clk2 |
G |
T |
3: 89,074,498 (GRCm39) |
V53F |
possibly damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,182,413 (GRCm39) |
D15G |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,721,240 (GRCm39) |
Y1836C |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,172,245 (GRCm39) |
F1905L |
probably damaging |
Het |
| E130114P18Rik |
A |
G |
4: 97,578,955 (GRCm39) |
S7P |
unknown |
Het |
| Fam110a |
T |
C |
2: 151,812,629 (GRCm39) |
E47G |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Helb |
T |
A |
10: 119,938,806 (GRCm39) |
D556V |
possibly damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,687 (GRCm39) |
E22G |
probably damaging |
Het |
| Hsd17b8 |
A |
T |
17: 34,245,886 (GRCm39) |
V202D |
probably damaging |
Het |
| Il1rl2 |
T |
G |
1: 40,368,316 (GRCm39) |
I162R |
probably damaging |
Het |
| Lhfpl5 |
A |
G |
17: 28,795,071 (GRCm39) |
T33A |
probably damaging |
Het |
| Mapk8ip3 |
G |
A |
17: 25,118,163 (GRCm39) |
A1283V |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,363,449 (GRCm39) |
V227A |
probably benign |
Het |
| Mmgt2 |
T |
A |
11: 62,555,824 (GRCm39) |
C57* |
probably null |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Mylk2 |
T |
C |
2: 152,754,430 (GRCm39) |
S175P |
probably damaging |
Het |
| Neu4 |
C |
T |
1: 93,950,140 (GRCm39) |
T33M |
probably damaging |
Het |
| Nfs1 |
C |
T |
2: 155,984,056 (GRCm39) |
R107H |
probably benign |
Het |
| Nfxl1 |
C |
T |
5: 72,686,512 (GRCm39) |
R563Q |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,612,495 (GRCm39) |
D70G |
probably benign |
Het |
| Nup160 |
C |
A |
2: 90,555,959 (GRCm39) |
Q1220K |
possibly damaging |
Het |
| Or1ad8 |
G |
A |
11: 50,898,170 (GRCm39) |
V124M |
possibly damaging |
Het |
| Or1e22 |
A |
G |
11: 73,377,002 (GRCm39) |
V216A |
probably benign |
Het |
| Or52s6 |
A |
C |
7: 103,092,147 (GRCm39) |
M61R |
probably damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,846 (GRCm39) |
C75* |
probably null |
Het |
| Pdgfrb |
T |
A |
18: 61,201,180 (GRCm39) |
V422E |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,309,609 (GRCm39) |
M2780L |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,550,410 (GRCm39) |
V62A |
possibly damaging |
Het |
| Prol1 |
C |
T |
5: 88,476,125 (GRCm39) |
P172S |
unknown |
Het |
| Proz |
A |
G |
8: 13,122,578 (GRCm39) |
I231V |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,675,059 (GRCm39) |
M718L |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,736,128 (GRCm39) |
C102R |
possibly damaging |
Het |
| Robo2 |
A |
T |
16: 73,770,654 (GRCm39) |
Y490* |
probably null |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Skint6 |
T |
A |
4: 112,963,106 (GRCm39) |
S442C |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,502,485 (GRCm39) |
E303G |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
C |
T |
11: 32,554,166 (GRCm39) |
Q618* |
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,271,569 (GRCm39) |
E907V |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,729,451 (GRCm39) |
|
probably benign |
Het |
| Vps39 |
T |
C |
2: 120,183,413 (GRCm39) |
D19G |
probably benign |
Het |
| Zan |
T |
C |
5: 137,470,453 (GRCm39) |
S229G |
probably damaging |
Het |
| Zfp141 |
A |
T |
7: 42,124,983 (GRCm39) |
C496* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,356,768 (GRCm39) |
S665P |
possibly 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 |
|
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 |
|
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'- TTACTGGCCAAAGGGGAACTG -3'
(R):5'- TTCACCTGTCTACAGTGGGTAC -3'
Sequencing Primer
(F):5'- CTGAAGGAGCAGACAGTAGCACC -3'
(R):5'- AGGTGTGTCTAGTTCATTGGACAC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation