Incidental Mutation 'R9014:Pear1'
ID |
685817 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pear1
|
Ensembl Gene |
ENSMUSG00000028073 |
Gene Name |
platelet endothelial aggregation receptor 1 |
Synonyms |
Jedi-1, 3110045G13Rik |
MMRRC Submission |
068844-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9014 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
87656404-87676262 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87658479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 964
(Q964R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023846]
[ENSMUST00000029714]
[ENSMUST00000079083]
[ENSMUST00000090981]
[ENSMUST00000172621]
[ENSMUST00000174219]
[ENSMUST00000174267]
[ENSMUST00000174713]
[ENSMUST00000174759]
|
AlphaFold |
Q8VIK5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023846
|
SMART Domains |
Protein: ENSMUSP00000023846 Gene: ENSMUSG00000023084
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
Blast:LRR
|
165 |
191 |
6e-7 |
BLAST |
LRR
|
219 |
246 |
4.24e-1 |
SMART |
LRR
|
251 |
278 |
1.33e-1 |
SMART |
LRR
|
279 |
306 |
1.98e-4 |
SMART |
low complexity region
|
312 |
323 |
N/A |
INTRINSIC |
low complexity region
|
329 |
337 |
N/A |
INTRINSIC |
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
low complexity region
|
407 |
414 |
N/A |
INTRINSIC |
LRR
|
472 |
499 |
1.83e2 |
SMART |
low complexity region
|
547 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000029714
AA Change: Q964R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000029714 Gene: ENSMUSG00000028073 AA Change: Q964R
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: Q964R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000078090 Gene: ENSMUSG00000028073 AA Change: Q964R
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: Q964R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000088503 Gene: ENSMUSG00000028073 AA Change: Q964R
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: ENSMUST00000172621
AA Change: Q964R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133474 Gene: ENSMUSG00000028073 AA Change: Q964R
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: 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: 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: 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: 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: ENSMUST00000174759
AA Change: Q964R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133323 Gene: ENSMUSG00000028073 AA Change: Q964R
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco2 |
A |
G |
15: 81,798,857 (GRCm39) |
N746S |
probably benign |
Het |
Ahnak2 |
T |
C |
12: 112,740,170 (GRCm39) |
T1301A |
possibly damaging |
Het |
Akap6 |
T |
A |
12: 53,186,403 (GRCm39) |
N1272K |
possibly damaging |
Het |
Apc |
G |
T |
18: 34,354,074 (GRCm39) |
|
probably benign |
Het |
Arap1 |
A |
G |
7: 101,053,540 (GRCm39) |
S1290G |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,019,607 (GRCm39) |
Y483C |
probably damaging |
Het |
Arpp21 |
G |
T |
9: 112,006,796 (GRCm39) |
Q138K |
probably damaging |
Het |
Bahcc1 |
C |
T |
11: 120,163,715 (GRCm39) |
A671V |
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,173,048 (GRCm39) |
S1557P |
probably benign |
Het |
Bltp2 |
T |
C |
11: 78,160,488 (GRCm39) |
L649P |
possibly damaging |
Het |
Brca2 |
C |
A |
5: 150,465,219 (GRCm39) |
T1661K |
probably benign |
Het |
Casq1 |
T |
A |
1: 172,038,064 (GRCm39) |
S356C |
probably damaging |
Het |
Catsperg1 |
T |
C |
7: 28,906,066 (GRCm39) |
Y171C |
probably damaging |
Het |
Ccdc88c |
G |
C |
12: 100,879,323 (GRCm39) |
Q1926E |
probably benign |
Het |
Cdc42bpg |
T |
A |
19: 6,372,289 (GRCm39) |
M1425K |
possibly damaging |
Het |
Chac2 |
C |
T |
11: 30,936,158 (GRCm39) |
R30Q |
probably damaging |
Het |
Clca3a1 |
T |
C |
3: 144,442,731 (GRCm39) |
D771G |
probably benign |
Het |
Cyp26c1 |
T |
C |
19: 37,675,844 (GRCm39) |
|
probably null |
Het |
Dcaf8 |
T |
C |
1: 172,007,530 (GRCm39) |
V333A |
possibly damaging |
Het |
Dennd4c |
G |
A |
4: 86,739,702 (GRCm39) |
S997N |
probably benign |
Het |
Dennd4c |
A |
C |
4: 86,754,666 (GRCm39) |
I1559L |
probably benign |
Het |
Dgcr8 |
T |
G |
16: 18,077,514 (GRCm39) |
H632P |
possibly damaging |
Het |
Dhx16 |
C |
A |
17: 36,193,490 (GRCm39) |
R278S |
probably benign |
Het |
Dsel |
A |
T |
1: 111,788,509 (GRCm39) |
Y675* |
probably null |
Het |
Dsp |
T |
C |
13: 38,376,700 (GRCm39) |
I1495T |
possibly damaging |
Het |
Fam227a |
T |
A |
15: 79,504,958 (GRCm39) |
N495I |
possibly damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,854,876 (GRCm39) |
E1834G |
probably damaging |
Het |
Focad |
T |
A |
4: 88,275,763 (GRCm39) |
M1124K |
unknown |
Het |
Foxi3 |
A |
G |
6: 70,937,815 (GRCm39) |
H349R |
probably damaging |
Het |
Foxp1 |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,866 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
C |
A |
2: 82,806,898 (GRCm39) |
D1072E |
probably benign |
Het |
Fsip2 |
T |
G |
2: 82,817,075 (GRCm39) |
H4269Q |
possibly damaging |
Het |
Fzd10 |
C |
G |
5: 128,679,369 (GRCm39) |
P363R |
probably damaging |
Het |
Gm49383 |
A |
C |
12: 69,243,425 (GRCm39) |
Y151* |
probably null |
Het |
Ighv1-26 |
T |
A |
12: 114,752,033 (GRCm39) |
S104C |
probably damaging |
Het |
Kat6a |
A |
G |
8: 23,430,087 (GRCm39) |
N1814S |
unknown |
Het |
Kif18a |
T |
A |
2: 109,123,414 (GRCm39) |
H229Q |
probably damaging |
Het |
Klk1b4 |
C |
T |
7: 43,859,098 (GRCm39) |
R39C |
probably benign |
Het |
Lgr6 |
T |
C |
1: 134,931,248 (GRCm39) |
I269V |
probably damaging |
Het |
Lrtm2 |
A |
G |
6: 119,294,219 (GRCm39) |
V304A |
probably damaging |
Het |
Lsm8 |
A |
G |
6: 18,853,632 (GRCm39) |
D78G |
possibly damaging |
Het |
Mroh2b |
T |
C |
15: 4,928,670 (GRCm39) |
M1T |
probably null |
Het |
Ms4a14 |
T |
C |
19: 11,278,871 (GRCm39) |
E1229G |
possibly damaging |
Het |
Nbeal1 |
G |
A |
1: 60,329,118 (GRCm39) |
D2179N |
probably damaging |
Het |
Nfix |
G |
A |
8: 85,448,405 (GRCm39) |
T366M |
possibly damaging |
Het |
Or12j4 |
A |
T |
7: 140,045,883 (GRCm39) |
|
probably benign |
Het |
Or56b1b |
A |
G |
7: 108,164,882 (GRCm39) |
L40P |
possibly damaging |
Het |
Or8b49 |
T |
C |
9: 38,506,123 (GRCm39) |
V202A |
probably damaging |
Het |
Or8h9 |
T |
A |
2: 86,789,035 (GRCm39) |
I256F |
probably benign |
Het |
Pgk2 |
T |
G |
17: 40,518,687 (GRCm39) |
E247A |
probably benign |
Het |
Ppfia2 |
C |
T |
10: 106,763,666 (GRCm39) |
P1220S |
probably benign |
Het |
Ppp1r1b |
T |
C |
11: 98,241,449 (GRCm39) |
S46P |
probably damaging |
Het |
Ppp2ca |
C |
A |
11: 52,009,510 (GRCm39) |
H167Q |
probably damaging |
Het |
Scel |
A |
T |
14: 103,822,575 (GRCm39) |
R396S |
probably benign |
Het |
Siae |
T |
C |
9: 37,557,639 (GRCm39) |
V482A |
possibly damaging |
Het |
Skint2 |
A |
G |
4: 112,483,026 (GRCm39) |
M144V |
probably benign |
Het |
Slc23a3 |
A |
G |
1: 75,109,274 (GRCm39) |
F219L |
probably benign |
Het |
Slc4a4 |
G |
T |
5: 89,280,245 (GRCm39) |
A348S |
probably damaging |
Het |
Spin1 |
G |
T |
13: 51,282,010 (GRCm39) |
|
probably null |
Het |
Tab2 |
G |
A |
10: 7,794,920 (GRCm39) |
R521W |
probably damaging |
Het |
Tas2r118 |
G |
A |
6: 23,970,049 (GRCm39) |
T4M |
probably benign |
Het |
Tet2 |
T |
A |
3: 133,172,949 (GRCm39) |
D1771V |
probably damaging |
Het |
Tmprss15 |
T |
C |
16: 78,872,691 (GRCm39) |
T172A |
probably benign |
Het |
Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
Txnrd3 |
A |
G |
6: 89,631,091 (GRCm39) |
Y129C |
probably damaging |
Het |
Ulk4 |
A |
G |
9: 121,017,294 (GRCm39) |
I728T |
probably benign |
Het |
Vmn1r44 |
G |
A |
6: 89,870,997 (GRCm39) |
V248M |
possibly damaging |
Het |
Wdr64 |
A |
G |
1: 175,526,395 (GRCm39) |
I15V |
probably benign |
Het |
Zdhhc17 |
T |
C |
10: 110,785,544 (GRCm39) |
T423A |
probably benign |
Het |
Zfp619 |
T |
C |
7: 39,187,246 (GRCm39) |
I1092T |
probably benign |
Het |
Zfp729b |
A |
T |
13: 67,740,274 (GRCm39) |
Y664N |
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 |
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 |
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'- AGGGCAGTTCTCCCAATATCAC -3'
(R):5'- AGGTCCCATCTCTGAAGAGG -3'
Sequencing Primer
(F):5'- ATATCACACCTGCTTTGAGACC -3'
(R):5'- CATCTCTGAAGAGGGACTAGGG -3'
|
Posted On |
2021-10-11 |