Incidental Mutation 'R6385:Pear1'
| ID |
515542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pear1
|
| Ensembl Gene |
ENSMUSG00000028073 |
| Gene Name |
platelet endothelial aggregation receptor 1 |
| Synonyms |
Jedi-1, 3110045G13Rik |
| MMRRC Submission |
044534-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6385 (G1)
|
| Quality Score |
212.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87656404-87676262 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87661506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 562
(H562N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029714]
[ENSMUST00000079083]
[ENSMUST00000090981]
[ENSMUST00000172590]
[ENSMUST00000172621]
[ENSMUST00000174759]
[ENSMUST00000173468]
[ENSMUST00000173225]
[ENSMUST00000174267]
[ENSMUST00000173184]
[ENSMUST00000174713]
[ENSMUST00000174219]
[ENSMUST00000174776]
|
| AlphaFold |
Q8VIK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029714
AA Change: H562N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073
AA Change: H562N
| 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: ENSMUST00000079083
AA Change: H562N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078090
Gene: ENSMUSG00000028073
AA Change: H562N
| 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: ENSMUST00000090981
AA Change: H562N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073
AA Change: H562N
| 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 benign
Transcript: ENSMUST00000172621
AA Change: H562N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133474
Gene: ENSMUSG00000028073
AA Change: H562N
| 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 benign
Transcript: ENSMUST00000174759
AA Change: H562N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133323
Gene: ENSMUSG00000028073
AA Change: H562N
| 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: 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: 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: ENSMUST00000174267
|
| SMART Domains |
Protein: ENSMUSP00000133626
Gene: ENSMUSG00000028073
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173747
|
| 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: ENSMUST00000174713
|
| SMART Domains |
Protein: ENSMUSP00000134215
Gene: ENSMUSG00000028073
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.1096 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
| Validation Efficiency |
98% (55/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,236 (GRCm39) |
M910L |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,025,080 (GRCm39) |
I988F |
probably damaging |
Het |
| Adgra2 |
A |
T |
8: 27,608,878 (GRCm39) |
S92C |
probably damaging |
Het |
| Apon |
A |
G |
10: 128,090,223 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,130,084 (GRCm39) |
R26* |
probably null |
Het |
| Btnl6 |
T |
G |
17: 34,727,343 (GRCm39) |
I396L |
probably benign |
Het |
| Catsper3 |
G |
T |
13: 55,934,239 (GRCm39) |
Q53H |
probably damaging |
Het |
| Cep164 |
T |
G |
9: 45,691,081 (GRCm39) |
E372A |
probably damaging |
Het |
| Cln3 |
A |
T |
7: 126,174,207 (GRCm39) |
C339S |
probably null |
Het |
| Cntnap2 |
G |
A |
6: 46,833,114 (GRCm39) |
D776N |
probably benign |
Het |
| Cttnbp2nl |
A |
G |
3: 104,912,952 (GRCm39) |
F311L |
probably benign |
Het |
| Daam2 |
C |
T |
17: 49,770,964 (GRCm39) |
A918T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,346,549 (GRCm39) |
V7353A |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,032,606 (GRCm39) |
|
probably null |
Het |
| Filip1 |
G |
T |
9: 79,727,813 (GRCm39) |
Q269K |
possibly damaging |
Het |
| Fut9 |
G |
A |
4: 25,620,328 (GRCm39) |
S162L |
probably damaging |
Het |
| Gtf2ird1 |
A |
T |
5: 134,433,544 (GRCm39) |
H294Q |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,313 (GRCm39) |
I225T |
probably benign |
Het |
| H2-DMb1 |
T |
A |
17: 34,374,576 (GRCm39) |
N75K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Hes1 |
A |
G |
16: 29,884,424 (GRCm39) |
M6V |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,038,856 (GRCm39) |
H198L |
possibly damaging |
Het |
| Iars1 |
T |
C |
13: 49,855,371 (GRCm39) |
L266P |
probably damaging |
Het |
| Ifna11 |
A |
G |
4: 88,738,386 (GRCm39) |
E64G |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,125,822 (GRCm39) |
S160P |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,838,326 (GRCm39) |
T850A |
probably damaging |
Het |
| Lgi3 |
A |
G |
14: 70,768,610 (GRCm39) |
T36A |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,326,128 (GRCm39) |
S1810G |
probably benign |
Het |
| Lypd10 |
A |
T |
7: 24,413,535 (GRCm39) |
I184F |
probably damaging |
Het |
| Msln |
T |
A |
17: 25,970,115 (GRCm39) |
D280V |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,146,663 (GRCm39) |
I1513F |
probably damaging |
Het |
| Ncf2 |
A |
T |
1: 152,706,173 (GRCm39) |
M262L |
probably benign |
Het |
| Neb |
G |
T |
2: 52,075,311 (GRCm39) |
A218D |
probably damaging |
Het |
| Notch4 |
C |
A |
17: 34,792,788 (GRCm39) |
Q640K |
probably null |
Het |
| Or4f7 |
T |
C |
2: 111,644,964 (GRCm39) |
I36V |
probably benign |
Het |
| Or52e19b |
A |
T |
7: 103,033,104 (GRCm39) |
V35D |
possibly damaging |
Het |
| Or6k6 |
A |
T |
1: 173,944,862 (GRCm39) |
F240Y |
probably damaging |
Het |
| Poli |
C |
A |
18: 70,663,072 (GRCm39) |
|
probably benign |
Het |
| Ppp3r2 |
A |
G |
4: 49,681,767 (GRCm39) |
I61T |
possibly damaging |
Het |
| Rfc5 |
T |
C |
5: 117,523,463 (GRCm39) |
T112A |
probably benign |
Het |
| Serhl |
A |
G |
15: 82,985,823 (GRCm39) |
T5A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,405,578 (GRCm39) |
|
probably null |
Het |
| Slc22a28 |
A |
G |
19: 8,078,844 (GRCm39) |
S282P |
probably damaging |
Het |
| Slc2a12 |
C |
T |
10: 22,569,929 (GRCm39) |
T540I |
possibly damaging |
Het |
| Slurp2 |
T |
C |
15: 74,618,524 (GRCm39) |
M1V |
probably null |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,185,411 (GRCm39) |
A700T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,748,192 (GRCm39) |
V4286I |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,389,341 (GRCm39) |
K214R |
possibly damaging |
Het |
| Vmn1r46 |
A |
G |
6: 89,953,427 (GRCm39) |
H92R |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,067,504 (GRCm39) |
I1486T |
probably damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,565,192 (GRCm39) |
S236T |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,721,932 (GRCm39) |
K1312E |
probably damaging |
Het |
| Zfp930 |
A |
G |
8: 69,681,283 (GRCm39) |
Y326C |
probably damaging |
Het |
| Zfp972 |
G |
T |
2: 177,563,588 (GRCm39) |
D8E |
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 |
|
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 |
|
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'- TGGAATAACCACCCTGGAGATG -3'
(R):5'- TGTCTGTGACTGTGACCACTC -3'
Sequencing Primer
(F):5'- GGGGCTCCCAAATCTGAAC -3'
(R):5'- TGACTGTGACCACTCTGATGGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation