Incidental Mutation 'R7097:Pear1'
| ID |
550543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pear1
|
| Ensembl Gene |
ENSMUSG00000028073 |
| Gene Name |
platelet endothelial aggregation receptor 1 |
| Synonyms |
Jedi-1, 3110045G13Rik |
| MMRRC Submission |
045189-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7097 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87656404-87676262 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 87658752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 901
(H901P)
|
| 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: H901P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073
AA Change: H901P
| 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: H901P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000078090
Gene: ENSMUSG00000028073
AA Change: H901P
| 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: H901P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073
AA Change: H901P
| 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: H901P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000133474
Gene: ENSMUSG00000028073
AA Change: H901P
| 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: H901P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000133323
Gene: ENSMUSG00000028073
AA Change: H901P
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (75/76) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
A |
G |
17: 9,224,052 (GRCm39) |
N435S |
probably damaging |
Het |
| Aip |
A |
T |
19: 4,165,381 (GRCm39) |
V195E |
probably benign |
Het |
| Amer3 |
A |
T |
1: 34,627,869 (GRCm39) |
I703F |
probably benign |
Het |
| Amfr |
T |
C |
8: 94,738,637 (GRCm39) |
E7G |
probably benign |
Het |
| Angel1 |
A |
G |
12: 86,773,158 (GRCm39) |
S4P |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,341,850 (GRCm39) |
I146T |
probably damaging |
Het |
| Atp6v0e |
A |
G |
17: 26,914,390 (GRCm39) |
T72A |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,163,472 (GRCm39) |
V590A |
possibly damaging |
Het |
| Bcl6 |
A |
G |
16: 23,791,364 (GRCm39) |
V330A |
possibly damaging |
Het |
| Bcl6 |
T |
C |
16: 23,791,652 (GRCm39) |
D234G |
probably damaging |
Het |
| Btaf1 |
C |
T |
19: 36,926,502 (GRCm39) |
T58I |
probably damaging |
Het |
| Ccdc175 |
A |
T |
12: 72,175,183 (GRCm39) |
|
probably null |
Het |
| Cdca4 |
C |
A |
12: 112,785,189 (GRCm39) |
V180L |
probably benign |
Het |
| Ces1g |
C |
A |
8: 94,043,665 (GRCm39) |
G425C |
possibly damaging |
Het |
| Chl1 |
T |
C |
6: 103,683,409 (GRCm39) |
L745P |
probably damaging |
Het |
| Clec4g |
T |
A |
8: 3,769,518 (GRCm39) |
T42S |
possibly damaging |
Het |
| Ctsg |
A |
C |
14: 56,337,489 (GRCm39) |
I238S |
probably damaging |
Het |
| Cyb5rl |
A |
T |
4: 106,944,513 (GRCm39) |
E41V |
unknown |
Het |
| Dcdc2a |
A |
G |
13: 25,291,681 (GRCm39) |
E222G |
probably benign |
Het |
| Dnaaf1 |
G |
T |
8: 120,323,538 (GRCm39) |
G509V |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,453,410 (GRCm39) |
I4394V |
probably benign |
Het |
| Dot1l |
T |
G |
10: 80,626,560 (GRCm39) |
S1260R |
probably damaging |
Het |
| Dst |
T |
G |
1: 34,208,341 (GRCm39) |
I1089S |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,899,787 (GRCm39) |
I4350F |
possibly damaging |
Het |
| Eps8l3 |
A |
G |
3: 107,791,801 (GRCm39) |
|
probably null |
Het |
| Fam135b |
A |
G |
15: 71,493,917 (GRCm39) |
V4A |
possibly damaging |
Het |
| Fnip2 |
T |
C |
3: 79,388,313 (GRCm39) |
E806G |
probably benign |
Het |
| Fryl |
T |
A |
5: 73,231,251 (GRCm39) |
I1609F |
probably benign |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Gsn |
A |
T |
2: 35,185,061 (GRCm39) |
K339* |
probably null |
Het |
| Hecw2 |
T |
A |
1: 53,904,283 (GRCm39) |
Y1155F |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,951,892 (GRCm39) |
N1723K |
probably damaging |
Het |
| Kif2b |
T |
C |
11: 91,467,650 (GRCm39) |
D211G |
probably benign |
Het |
| Lhfpl4 |
C |
T |
6: 113,153,632 (GRCm39) |
V140I |
probably benign |
Het |
| Med16 |
C |
T |
10: 79,739,177 (GRCm39) |
G203D |
probably damaging |
Het |
| Mrgpra3 |
T |
A |
7: 47,239,389 (GRCm39) |
Y179F |
probably benign |
Het |
| Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
G |
5: 113,022,271 (GRCm39) |
S374P |
unknown |
Het |
| Myoz1 |
A |
G |
14: 20,699,477 (GRCm39) |
I287T |
possibly damaging |
Het |
| Ncoa6 |
T |
C |
2: 155,279,983 (GRCm39) |
D11G |
probably benign |
Het |
| Nlrp9c |
A |
G |
7: 26,085,046 (GRCm39) |
Y178H |
probably damaging |
Het |
| Nmur1 |
T |
C |
1: 86,315,230 (GRCm39) |
T212A |
probably damaging |
Het |
| Oacyl |
A |
G |
18: 65,853,323 (GRCm39) |
D143G |
probably benign |
Het |
| Obox5 |
A |
G |
7: 15,492,732 (GRCm39) |
Y229C |
probably damaging |
Het |
| Or10d1c |
A |
T |
9: 38,893,914 (GRCm39) |
M142K |
probably benign |
Het |
| Or1j12 |
A |
G |
2: 36,342,702 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or1j18 |
G |
T |
2: 36,624,436 (GRCm39) |
M34I |
probably benign |
Het |
| Or1x2 |
C |
A |
11: 50,918,428 (GRCm39) |
L200I |
probably benign |
Het |
| Or8c13 |
A |
T |
9: 38,091,632 (GRCm39) |
C162* |
probably null |
Het |
| Pcdhb17 |
A |
C |
18: 37,619,566 (GRCm39) |
N452T |
probably benign |
Het |
| Peds1 |
C |
G |
2: 167,503,398 (GRCm39) |
A7P |
probably benign |
Het |
| Pi16 |
A |
G |
17: 29,545,313 (GRCm39) |
Y192C |
probably damaging |
Het |
| Pip5k1b |
T |
G |
19: 24,335,424 (GRCm39) |
E362D |
probably damaging |
Het |
| Pla2g5 |
T |
C |
4: 138,531,830 (GRCm39) |
D58G |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,472,968 (GRCm39) |
|
probably null |
Het |
| Prdm16 |
G |
T |
4: 154,429,925 (GRCm39) |
T348K |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,507,207 (GRCm39) |
F896I |
probably damaging |
Het |
| Prmt7 |
T |
C |
8: 106,961,732 (GRCm39) |
F215S |
unknown |
Het |
| Prss23 |
T |
A |
7: 89,159,392 (GRCm39) |
T226S |
probably damaging |
Het |
| Ptpn14 |
G |
A |
1: 189,595,595 (GRCm39) |
W739* |
probably null |
Het |
| Rfx5 |
G |
T |
3: 94,863,850 (GRCm39) |
G135C |
probably damaging |
Het |
| Scmh1 |
A |
G |
4: 120,382,252 (GRCm39) |
H573R |
probably benign |
Het |
| Serpina5 |
G |
T |
12: 104,068,554 (GRCm39) |
|
probably null |
Het |
| Sh3rf2 |
G |
A |
18: 42,237,227 (GRCm39) |
|
probably null |
Het |
| Slc38a2 |
T |
C |
15: 96,591,182 (GRCm39) |
M229V |
probably damaging |
Het |
| Slc6a17 |
C |
G |
3: 107,400,464 (GRCm39) |
G222R |
probably damaging |
Het |
| Sp110 |
C |
T |
1: 85,507,406 (GRCm39) |
G367D |
possibly damaging |
Het |
| Srcap |
C |
A |
7: 127,138,213 (GRCm39) |
L1128M |
probably damaging |
Het |
| Tpra1 |
T |
A |
6: 88,885,276 (GRCm39) |
I76N |
probably damaging |
Het |
| Trav6-4 |
A |
T |
14: 53,692,049 (GRCm39) |
Y52F |
probably benign |
Het |
| Trp63 |
C |
A |
16: 25,639,227 (GRCm39) |
H138Q |
probably damaging |
Het |
| Trub2 |
A |
G |
2: 29,669,838 (GRCm39) |
V177A |
possibly damaging |
Het |
| Ugt2a2 |
T |
C |
5: 87,608,255 (GRCm39) |
D528G |
possibly damaging |
Het |
| Wnk2 |
C |
A |
13: 49,256,314 (GRCm39) |
R269L |
possibly damaging |
Het |
| Zc3h12c |
T |
A |
9: 52,027,226 (GRCm39) |
Q731L |
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 |
|
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 |
|
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'- AGGTCTCGGATGGTAGCATAG -3'
(R):5'- GAGAACCATGTCACACTGCC -3'
Sequencing Primer
(F):5'- CATAGGGGTTCTCACTGCTCAG -3'
(R):5'- CCCATGAAAGAGGTAGGTGCTTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation