Incidental Mutation 'R0040:Pear1'
| ID |
64658 |
| 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 |
151 |
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.6%
|
| Validation Efficiency |
100% (88/88) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
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 |
| Atad5 |
A |
G |
11: 79,988,840 (GRCm39) |
T666A |
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 |
| Ceacam10 |
A |
G |
7: 24,477,689 (GRCm39) |
Y68C |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,812,901 (GRCm39) |
Q1344L |
probably benign |
Het |
| Cyb5r4 |
A |
G |
9: 86,948,795 (GRCm39) |
|
probably null |
Het |
| Cyp2b9 |
G |
T |
7: 25,872,899 (GRCm39) |
S14I |
possibly damaging |
Het |
| Dusp12 |
A |
G |
1: 170,708,226 (GRCm39) |
Y164H |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,930,539 (GRCm39) |
V373A |
possibly 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 |
| Fbxo28 |
G |
T |
1: 182,153,805 (GRCm39) |
|
probably benign |
Het |
| Fbxo44 |
A |
G |
4: 148,243,152 (GRCm39) |
L89P |
probably damaging |
Het |
| Fndc3b |
T |
A |
3: 27,610,266 (GRCm39) |
|
probably null |
Het |
| Gm9955 |
G |
T |
18: 24,842,209 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
T |
A |
10: 51,491,080 (GRCm39) |
K819* |
probably null |
Het |
| Gxylt1 |
A |
T |
15: 93,152,436 (GRCm39) |
|
probably benign |
Het |
| Hspa12a |
T |
C |
19: 58,788,056 (GRCm39) |
T589A |
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 |
| Kpna1 |
T |
A |
16: 35,843,611 (GRCm39) |
D328E |
probably damaging |
Het |
| Krt71 |
T |
A |
15: 101,646,868 (GRCm39) |
H280L |
possibly damaging |
Het |
| Lrrc37 |
G |
A |
11: 103,433,816 (GRCm39) |
P942S |
probably damaging |
Het |
| Mapt |
A |
G |
11: 104,196,224 (GRCm39) |
M446V |
probably damaging |
Het |
| Med1 |
C |
T |
11: 98,057,081 (GRCm39) |
|
probably null |
Het |
| Mif |
T |
A |
10: 75,695,614 (GRCm39) |
H63L |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,461,708 (GRCm39) |
V1447A |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,821,148 (GRCm39) |
I451N |
probably damaging |
Het |
| Nme2 |
A |
T |
11: 93,842,756 (GRCm39) |
|
probably null |
Het |
| Nubp1 |
A |
G |
16: 10,238,981 (GRCm39) |
T199A |
probably damaging |
Het |
| Nup210l |
T |
A |
3: 90,089,212 (GRCm39) |
V1165D |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,841,241 (GRCm39) |
T122S |
probably damaging |
Het |
| Or14a258 |
A |
T |
7: 86,035,715 (GRCm39) |
L51Q |
probably benign |
Het |
| Or1n2 |
T |
C |
2: 36,797,470 (GRCm39) |
F171L |
probably damaging |
Het |
| Or5j1 |
C |
T |
2: 86,879,548 (GRCm39) |
E11K |
probably damaging |
Het |
| Or6c202 |
T |
A |
10: 128,996,608 (GRCm39) |
I82L |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,676,979 (GRCm39) |
Y1170F |
probably damaging |
Het |
| Phrf1 |
G |
T |
7: 140,823,770 (GRCm39) |
R196L |
probably damaging |
Het |
| Plxna2 |
G |
T |
1: 194,326,204 (GRCm39) |
R46L |
probably benign |
Het |
| Rbm39 |
G |
A |
2: 155,990,099 (GRCm39) |
T496I |
possibly damaging |
Het |
| Rpl14 |
C |
G |
9: 120,401,167 (GRCm39) |
F3L |
possibly damaging |
Het |
| Rtf2 |
G |
A |
2: 172,286,616 (GRCm39) |
S40N |
probably damaging |
Het |
| Runx2 |
G |
A |
17: 44,919,141 (GRCm39) |
S481L |
possibly damaging |
Het |
| Sh3rf1 |
T |
A |
8: 61,782,286 (GRCm39) |
Y143N |
possibly damaging |
Het |
| Siglec15 |
G |
A |
18: 78,092,092 (GRCm39) |
|
probably benign |
Het |
| Slc4a8 |
T |
A |
15: 100,687,727 (GRCm39) |
I288N |
probably damaging |
Het |
| Ttc38 |
C |
A |
15: 85,725,690 (GRCm39) |
F184L |
probably damaging |
Het |
| Vmn1r28 |
T |
C |
6: 58,242,879 (GRCm39) |
Y241H |
probably damaging |
Het |
| Vmn2r110 |
A |
T |
17: 20,816,346 (GRCm39) |
V59D |
probably benign |
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 |
| Zfp334 |
A |
G |
2: 165,223,492 (GRCm39) |
Y184H |
probably benign |
Het |
| Zfp68 |
G |
A |
5: 138,606,041 (GRCm39) |
T94I |
probably benign |
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGCCTGTAGAGGACAACCAAG -3'
(R):5'- GCTCACAGAGTGTACCTGCTTACC -3'
Sequencing Primer
(F):5'- AACCAAGGGTCATCTCCTGTG -3'
(R):5'- AAACTGGAGCCTGTACTTGC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation