Incidental Mutation 'R3551:Pear1'
| ID |
268324 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pear1
|
| Ensembl Gene |
ENSMUSG00000028073 |
| Gene Name |
platelet endothelial aggregation receptor 1 |
| Synonyms |
Jedi-1, 3110045G13Rik |
| MMRRC Submission |
040668-MU
|
| Accession Numbers |
Ncbi RefSeq: NM_001032413.1, NM_001032414.1, NM_028460.2, NM_152799.2; MGI:1920432
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3551 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
87747890-87824306 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87758132 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 145
(F145L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029714]
[ENSMUST00000079083]
[ENSMUST00000090981]
[ENSMUST00000172590]
[ENSMUST00000172621]
[ENSMUST00000173184]
[ENSMUST00000173225]
[ENSMUST00000173468]
[ENSMUST00000174759]
[ENSMUST00000174219]
[ENSMUST00000174713]
[ENSMUST00000174267]
[ENSMUST00000174776]
|
| AlphaFold |
Q8VIK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029714
AA Change: F145L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073
AA Change: F145L
| 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: F145L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078090
Gene: ENSMUSG00000028073
AA Change: F145L
| 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: F145L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073
AA Change: F145L
| 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: F145L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133474
Gene: ENSMUSG00000028073
AA Change: F145L
| 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: 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
AA Change: F145L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133988
Gene: ENSMUSG00000028073
AA Change: F145L
| 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: ENSMUST00000173490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174759
AA Change: F145L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133323
Gene: ENSMUSG00000028073
AA Change: F145L
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,261,624 |
Y866N |
probably damaging |
Het |
| Adam24 |
G |
C |
8: 40,679,593 |
W33C |
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,858,963 |
V327E |
probably damaging |
Het |
| Aqp7 |
T |
A |
4: 41,045,329 |
N17I |
probably benign |
Het |
| Bicra |
T |
A |
7: 15,979,733 |
Q848L |
probably benign |
Het |
| C4b |
T |
C |
17: 34,741,872 |
E240G |
possibly damaging |
Het |
| Ccni |
T |
C |
5: 93,187,761 |
S173G |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,803,081 |
N50I |
probably damaging |
Het |
| Dcaf7 |
A |
G |
11: 106,054,796 |
T324A |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,770,972 |
R1230H |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,451,756 |
V176M |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,163,393 |
I339T |
probably damaging |
Het |
| Edc4 |
A |
T |
8: 105,885,494 |
I138F |
probably damaging |
Het |
| Ercc6l2 |
T |
A |
13: 63,844,595 |
V401E |
probably damaging |
Het |
| Gm3269 |
T |
A |
14: 4,845,893 |
V260D |
possibly damaging |
Het |
| Gm4076 |
C |
T |
13: 85,127,150 |
|
noncoding transcript |
Het |
| Gm4922 |
A |
T |
10: 18,784,496 |
N159K |
probably benign |
Het |
| Gm5134 |
G |
T |
10: 76,000,447 |
A421S |
probably benign |
Het |
| Gm5724 |
T |
C |
6: 141,708,596 |
K647E |
probably benign |
Het |
| Hrc |
G |
C |
7: 45,336,333 |
E303Q |
possibly damaging |
Het |
| Ipo4 |
A |
G |
14: 55,633,103 |
V288A |
probably benign |
Het |
| Kng2 |
A |
G |
16: 23,011,995 |
|
probably null |
Het |
| Lrfn1 |
T |
C |
7: 28,460,054 |
L466P |
possibly damaging |
Het |
| Magi1 |
T |
A |
6: 93,699,629 |
K916N |
probably damaging |
Het |
| Mms19 |
T |
C |
19: 41,949,798 |
T720A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,861,335 |
T2673A |
possibly damaging |
Het |
| Myo15 |
C |
T |
11: 60,509,663 |
A1767V |
possibly damaging |
Het |
| Npas2 |
A |
T |
1: 39,287,562 |
M43L |
probably benign |
Het |
| Nup43 |
A |
G |
10: 7,675,014 |
D216G |
possibly damaging |
Het |
| Olfr378 |
T |
C |
11: 73,425,852 |
I44V |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,937,489 |
P31S |
probably benign |
Het |
| Pcdhga6 |
G |
T |
18: 37,708,217 |
R330L |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,530,143 |
S355P |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,828,619 |
|
probably null |
Het |
| Ptpn12 |
T |
C |
5: 20,989,049 |
K742E |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 29,056,997 |
Q3464L |
probably damaging |
Het |
| Sema4c |
G |
C |
1: 36,553,723 |
T138S |
probably benign |
Het |
| Slc4a2 |
C |
T |
5: 24,430,101 |
T168M |
probably benign |
Het |
| Spice1 |
G |
T |
16: 44,357,869 |
S85I |
probably damaging |
Het |
| Thrb |
T |
A |
14: 17,963,214 |
I59N |
probably damaging |
Het |
| Trav7-1 |
A |
G |
14: 52,655,299 |
D103G |
probably damaging |
Het |
| Ubap2l |
G |
T |
3: 90,015,451 |
T766N |
unknown |
Het |
| Zfp692 |
C |
T |
11: 58,309,428 |
T170I |
possibly damaging |
Het |
| Zfp704 |
A |
G |
3: 9,474,525 |
V255A |
probably damaging |
Het |
| Zfp759 |
T |
C |
13: 67,138,967 |
V194A |
probably benign |
Het |
|
| Other mutations in Pear1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Pear1
|
APN |
3 |
87752116 |
missense |
possibly damaging |
0.65 |
|
IGL01810:Pear1
|
APN |
3 |
87752301 |
missense |
probably damaging |
0.98 |
|
IGL02269:Pear1
|
APN |
3 |
87756264 |
missense |
probably damaging |
1.00 |
|
IGL02635:Pear1
|
APN |
3 |
87750146 |
makesense |
probably null |
|
|
R0040:Pear1
|
UTSW |
3 |
87754358 |
missense |
probably damaging |
0.99 |
|
R0040:Pear1
|
UTSW |
3 |
87754358 |
missense |
probably damaging |
0.99 |
|
R0050:Pear1
|
UTSW |
3 |
87755987 |
nonsense |
probably null |
|
|
R0050:Pear1
|
UTSW |
3 |
87755987 |
nonsense |
probably null |
|
|
R0090:Pear1
|
UTSW |
3 |
87754342 |
missense |
possibly damaging |
0.82 |
|
R0547:Pear1
|
UTSW |
3 |
87788800 |
splice site |
probably null |
|
|
R1024:Pear1
|
UTSW |
3 |
87760299 |
unclassified |
probably benign |
|
|
R1612:Pear1
|
UTSW |
3 |
87751853 |
critical splice donor site |
probably null |
|
|
R1637:Pear1
|
UTSW |
3 |
87756753 |
missense |
probably damaging |
0.97 |
|
R1772:Pear1
|
UTSW |
3 |
87754492 |
unclassified |
probably benign |
|
|
R1888:Pear1
|
UTSW |
3 |
87810575 |
splice site |
probably benign |
|
|
R2129:Pear1
|
UTSW |
3 |
87758359 |
nonsense |
probably null |
|
|
R2255:Pear1
|
UTSW |
3 |
87752186 |
missense |
probably damaging |
1.00 |
|
R3855:Pear1
|
UTSW |
3 |
87751921 |
missense |
possibly damaging |
0.94 |
|
R4021:Pear1
|
UTSW |
3 |
87756222 |
missense |
possibly damaging |
0.89 |
|
R4546:Pear1
|
UTSW |
3 |
87754661 |
missense |
probably damaging |
1.00 |
|
R5364:Pear1
|
UTSW |
3 |
87758361 |
missense |
probably damaging |
1.00 |
|
R5447:Pear1
|
UTSW |
3 |
87759142 |
missense |
probably damaging |
1.00 |
|
R5504:Pear1
|
UTSW |
3 |
87752695 |
splice site |
probably benign |
|
|
R6026:Pear1
|
UTSW |
3 |
87756913 |
missense |
probably damaging |
1.00 |
|
R6061:Pear1
|
UTSW |
3 |
87755931 |
missense |
probably benign |
0.02 |
|
R6155:Pear1
|
UTSW |
3 |
87759568 |
missense |
probably damaging |
0.97 |
|
R6175:Pear1
|
UTSW |
3 |
87752133 |
missense |
possibly damaging |
0.93 |
|
R6339:Pear1
|
UTSW |
3 |
87752520 |
missense |
probably damaging |
1.00 |
|
R6385:Pear1
|
UTSW |
3 |
87754199 |
missense |
probably benign |
0.00 |
|
R6715:Pear1
|
UTSW |
3 |
87759117 |
missense |
probably damaging |
1.00 |
|
R6929:Pear1
|
UTSW |
3 |
87759565 |
nonsense |
probably null |
|
|
R7088:Pear1
|
UTSW |
3 |
87754638 |
missense |
possibly damaging |
0.80 |
|
R7097:Pear1
|
UTSW |
3 |
87751445 |
missense |
probably benign |
0.00 |
|
R7229:Pear1
|
UTSW |
3 |
87750289 |
missense |
probably benign |
0.00 |
|
R7334:Pear1
|
UTSW |
3 |
87750225 |
missense |
probably damaging |
1.00 |
|
R7526:Pear1
|
UTSW |
3 |
87752568 |
missense |
probably damaging |
0.99 |
|
R7872:Pear1
|
UTSW |
3 |
87752215 |
missense |
probably benign |
|
|
R8925:Pear1
|
UTSW |
3 |
87754583 |
missense |
probably damaging |
0.99 |
|
R8927:Pear1
|
UTSW |
3 |
87754583 |
missense |
probably damaging |
0.99 |
|
R9014:Pear1
|
UTSW |
3 |
87751172 |
missense |
probably benign |
|
|
R9405:Pear1
|
UTSW |
3 |
87752583 |
missense |
probably damaging |
1.00 |
|
R9455:Pear1
|
UTSW |
3 |
87759181 |
missense |
possibly damaging |
0.96 |
|
R9593:Pear1
|
UTSW |
3 |
87751173 |
missense |
probably benign |
0.04 |
|
R9637:Pear1
|
UTSW |
3 |
87759105 |
missense |
probably benign |
0.23 |
|
X0063:Pear1
|
UTSW |
3 |
87754072 |
missense |
probably damaging |
1.00 |
|
Z1177:Pear1
|
UTSW |
3 |
87751340 |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCTCATAACACACCTGG -3'
(R):5'- ACTCCAGGGTGGTTTTACTG -3'
Sequencing Primer
(F):5'- TCATAACACACCTGGGTCCTG -3'
(R):5'- ACTGGTAGTCCACTGCTGCTAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation