Incidental Mutation 'R6026:Pear1'
| ID |
480018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pear1
|
| Ensembl Gene |
ENSMUSG00000028073 |
| Gene Name |
platelet endothelial aggregation receptor 1 |
| Synonyms |
Jedi-1, 3110045G13Rik |
| MMRRC Submission |
044198-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6026 (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 A
at 87664220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 278
(N278Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029714]
[ENSMUST00000079083]
[ENSMUST00000090981]
[ENSMUST00000172590]
[ENSMUST00000172621]
[ENSMUST00000174759]
[ENSMUST00000174267]
[ENSMUST00000173225]
[ENSMUST00000174219]
[ENSMUST00000173468]
[ENSMUST00000174776]
[ENSMUST00000174713]
[ENSMUST00000173184]
|
| AlphaFold |
Q8VIK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029714
AA Change: N278Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073
AA Change: N278Y
| 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: N278Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078090
Gene: ENSMUSG00000028073
AA Change: N278Y
| 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: N278Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073
AA Change: N278Y
| 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: N278Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133474
Gene: ENSMUSG00000028073
AA Change: N278Y
| 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: N278Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133323
Gene: ENSMUSG00000028073
AA Change: N278Y
| 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: ENSMUST00000173490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173747
|
| 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: 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: 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: 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: 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.6970 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
97% (73/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
A |
G |
11: 58,316,581 (GRCm39) |
D187G |
probably benign |
Het |
| 4933421I07Rik |
A |
T |
7: 42,095,708 (GRCm39) |
M180K |
probably benign |
Het |
| Aatk |
T |
C |
11: 119,903,190 (GRCm39) |
H345R |
possibly damaging |
Het |
| Abcc8 |
T |
C |
7: 45,816,424 (GRCm39) |
T239A |
probably benign |
Het |
| Abcf3 |
A |
G |
16: 20,369,320 (GRCm39) |
E234G |
probably damaging |
Het |
| Actrt2 |
T |
C |
4: 154,751,047 (GRCm39) |
D363G |
possibly damaging |
Het |
| Adam1a |
A |
T |
5: 121,657,425 (GRCm39) |
C623S |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
| Barhl2 |
T |
A |
5: 106,603,474 (GRCm39) |
K228N |
probably benign |
Het |
| Blvrb |
A |
G |
7: 27,162,115 (GRCm39) |
H153R |
probably damaging |
Het |
| Capn9 |
A |
G |
8: 125,332,601 (GRCm39) |
D480G |
probably damaging |
Het |
| Cct3 |
T |
C |
3: 88,219,029 (GRCm39) |
I182T |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,740,646 (GRCm39) |
N1208D |
probably benign |
Het |
| Col26a1 |
A |
G |
5: 136,876,354 (GRCm39) |
C89R |
probably damaging |
Het |
| Cops4 |
T |
A |
5: 100,690,194 (GRCm39) |
|
probably benign |
Het |
| Cpox |
T |
A |
16: 58,491,298 (GRCm39) |
W170R |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,875,560 (GRCm39) |
K656E |
probably benign |
Het |
| Eif4e |
T |
C |
3: 138,256,661 (GRCm39) |
I66T |
probably damaging |
Het |
| Ercc3 |
T |
C |
18: 32,378,974 (GRCm39) |
|
probably null |
Het |
| Esp38 |
G |
A |
17: 40,266,032 (GRCm39) |
C47Y |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,528,731 (GRCm39) |
V380A |
possibly damaging |
Het |
| Fbxw7 |
T |
A |
3: 84,859,948 (GRCm39) |
|
probably null |
Het |
| Fryl |
T |
G |
5: 73,257,340 (GRCm39) |
R736S |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,513,748 (GRCm39) |
V62M |
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,368,454 (GRCm39) |
T1045A |
probably damaging |
Het |
| Gm13090 |
T |
A |
4: 151,175,157 (GRCm39) |
L78* |
probably null |
Het |
| Gm19410 |
G |
A |
8: 36,279,580 (GRCm39) |
S1815N |
probably benign |
Het |
| Gm28051 |
A |
T |
12: 102,686,444 (GRCm39) |
L72Q |
unknown |
Het |
| Gm44511 |
T |
C |
6: 128,797,240 (GRCm39) |
T83A |
possibly damaging |
Het |
| Grk2 |
C |
T |
19: 4,340,811 (GRCm39) |
V246I |
probably damaging |
Het |
| Grm7 |
C |
T |
6: 111,478,500 (GRCm39) |
Q62* |
probably null |
Het |
| Gsdmc3 |
T |
A |
15: 63,738,600 (GRCm39) |
E154V |
probably damaging |
Het |
| Gstz1 |
A |
C |
12: 87,206,948 (GRCm39) |
Q114P |
probably damaging |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hhip |
A |
T |
8: 80,699,069 (GRCm39) |
C666S |
probably damaging |
Het |
| Hif1a |
A |
C |
12: 73,979,055 (GRCm39) |
H193P |
probably damaging |
Het |
| Hyal2 |
A |
G |
9: 107,449,398 (GRCm39) |
T385A |
probably benign |
Het |
| Ihh |
T |
C |
1: 74,985,886 (GRCm39) |
T200A |
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,997,478 (GRCm39) |
V218E |
probably damaging |
Het |
| Lct |
A |
G |
1: 128,227,755 (GRCm39) |
I1246T |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,118,426 (GRCm39) |
V217A |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,409,272 (GRCm39) |
D1616N |
probably damaging |
Het |
| Lrrfip2 |
A |
T |
9: 111,043,239 (GRCm39) |
T165S |
probably damaging |
Het |
| Morc2b |
A |
G |
17: 33,356,957 (GRCm39) |
Y272H |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,571,154 (GRCm39) |
M455T |
unknown |
Het |
| Ncapg2 |
A |
T |
12: 116,406,641 (GRCm39) |
D939V |
possibly damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,958,548 (GRCm39) |
V236A |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,957,916 (GRCm39) |
T3595S |
probably damaging |
Het |
| Odf2l |
T |
C |
3: 144,854,797 (GRCm39) |
S545P |
possibly damaging |
Het |
| Or3a1 |
T |
A |
11: 74,225,914 (GRCm39) |
I48F |
probably damaging |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Pdzrn3 |
A |
C |
6: 101,339,105 (GRCm39) |
C269G |
probably benign |
Het |
| Phb1 |
C |
T |
11: 95,562,245 (GRCm39) |
R41* |
probably null |
Het |
| Pikfyve |
T |
C |
1: 65,311,856 (GRCm39) |
V2031A |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,482,122 (GRCm39) |
I1465V |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,167,113 (GRCm39) |
N776S |
probably benign |
Het |
| Prkce |
A |
T |
17: 86,800,658 (GRCm39) |
E358V |
probably benign |
Het |
| Prl5a1 |
A |
T |
13: 28,335,247 (GRCm39) |
I219F |
probably benign |
Het |
| Prss3 |
T |
C |
6: 41,354,488 (GRCm39) |
|
probably null |
Het |
| Ptprc |
A |
T |
1: 137,998,987 (GRCm39) |
M858K |
probably damaging |
Het |
| Retreg3 |
T |
C |
11: 100,997,226 (GRCm39) |
T85A |
probably damaging |
Het |
| Rfc2 |
T |
A |
5: 134,624,185 (GRCm39) |
C265S |
probably damaging |
Het |
| Smarcd1 |
G |
T |
15: 99,603,619 (GRCm39) |
V256L |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,142 (GRCm39) |
F574L |
probably damaging |
Het |
| Tcirg1 |
T |
C |
19: 3,947,487 (GRCm39) |
H624R |
probably benign |
Het |
| Tcstv1a |
C |
A |
13: 120,355,987 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
C |
T |
11: 35,963,556 (GRCm39) |
|
probably null |
Het |
| Tomm40 |
A |
G |
7: 19,444,889 (GRCm39) |
V164A |
probably benign |
Het |
| Txnl4a |
T |
C |
18: 80,250,482 (GRCm39) |
V26A |
probably damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,484,336 (GRCm39) |
F229L |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,604,541 (GRCm39) |
T1785A |
probably benign |
Het |
| Vmn1r22 |
T |
A |
6: 57,877,390 (GRCm39) |
I196L |
probably benign |
Het |
| Zfp652 |
T |
G |
11: 95,640,788 (GRCm39) |
C238G |
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 |
|
|
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'- ACAGTCACAGGTCTCAGCAC -3'
(R):5'- TCCCAGGAGAATTCTGAGGGTG -3'
Sequencing Primer
(F):5'- ACAGGTCTCAGCACAGTCTTG -3'
(R):5'- TGGTTCTCCACAGGAATGATGGAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation