Incidental Mutation 'R5364:Pear1'
| ID |
422978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pear1
|
| Ensembl Gene |
ENSMUSG00000028073 |
| Gene Name |
platelet endothelial aggregation receptor 1 |
| Synonyms |
Jedi-1, 3110045G13Rik |
| MMRRC Submission |
042942-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5364 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87656404-87676262 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87665668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 120
(C120S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029714]
[ENSMUST00000079083]
[ENSMUST00000090981]
[ENSMUST00000172590]
[ENSMUST00000172621]
[ENSMUST00000174776]
[ENSMUST00000173468]
[ENSMUST00000174759]
[ENSMUST00000174219]
[ENSMUST00000173184]
[ENSMUST00000174267]
[ENSMUST00000174713]
[ENSMUST00000173225]
|
| AlphaFold |
Q8VIK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029714
AA Change: C120S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073
AA Change: C120S
| 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: C120S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078090
Gene: ENSMUSG00000028073
AA Change: C120S
| 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: C120S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073
AA Change: C120S
| 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: ENSMUST00000172590
AA Change: C41S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133480
Gene: ENSMUSG00000028073
AA Change: C41S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EGF
|
23 |
50 |
8e-13 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172621
AA Change: C120S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133474
Gene: ENSMUSG00000028073
AA Change: C120S
| 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: ENSMUST00000174776
AA Change: C120S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133749
Gene: ENSMUSG00000028073
AA Change: C120S
| 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 damaging
Transcript: ENSMUST00000173468
AA Change: C120S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133988
Gene: ENSMUSG00000028073
AA Change: C120S
| 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: ENSMUST00000173747
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174759
AA Change: C120S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133323
Gene: ENSMUSG00000028073
AA Change: C120S
| 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 |
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: 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: 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: ENSMUST00000173225
|
| SMART Domains |
Protein: ENSMUSP00000134387
Gene: ENSMUSG00000028073
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9663 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.3%
|
| Validation Efficiency |
100% (102/102) |
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
G |
7: 27,278,192 (GRCm39) |
T242R |
probably damaging |
Het |
| Abcc10 |
G |
A |
17: 46,616,577 (GRCm39) |
R1205C |
probably benign |
Het |
| Acer1 |
A |
G |
17: 57,289,000 (GRCm39) |
F37L |
probably damaging |
Het |
| Acp7 |
C |
A |
7: 28,310,448 (GRCm39) |
G463V |
probably benign |
Het |
| Actr2 |
A |
T |
11: 20,050,797 (GRCm39) |
|
probably benign |
Het |
| Adam15 |
A |
T |
3: 89,252,902 (GRCm39) |
I272K |
probably damaging |
Het |
| Adam1b |
T |
A |
5: 121,638,946 (GRCm39) |
I700F |
possibly damaging |
Het |
| Adam33 |
A |
G |
2: 130,896,392 (GRCm39) |
|
probably null |
Het |
| Ano1 |
T |
C |
7: 144,190,941 (GRCm39) |
Y380C |
probably damaging |
Het |
| Arfgap3 |
A |
C |
15: 83,198,562 (GRCm39) |
M307R |
probably damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,854,533 (GRCm39) |
R1610W |
probably damaging |
Het |
| Bbs2 |
A |
G |
8: 94,801,023 (GRCm39) |
Y603H |
probably benign |
Het |
| Bbs9 |
G |
T |
9: 22,486,492 (GRCm39) |
|
probably null |
Het |
| Bcar3 |
A |
C |
3: 122,323,281 (GRCm39) |
M779L |
probably benign |
Het |
| Bub3 |
A |
T |
7: 131,162,467 (GRCm39) |
N10I |
possibly damaging |
Het |
| Cacna1c |
T |
G |
6: 118,633,504 (GRCm39) |
E1098D |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,307,684 (GRCm39) |
M1738L |
probably benign |
Het |
| Camk2d |
G |
T |
3: 126,574,069 (GRCm39) |
G159C |
probably damaging |
Het |
| Ccdc51 |
A |
T |
9: 108,921,188 (GRCm39) |
E358D |
possibly damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,894,747 (GRCm39) |
D309G |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,101,007 (GRCm39) |
F468I |
possibly damaging |
Het |
| Chrd |
A |
G |
16: 20,551,898 (GRCm39) |
M1V |
probably null |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Dcdc2b |
T |
C |
4: 129,502,963 (GRCm39) |
Y253C |
probably damaging |
Het |
| Dclk1 |
A |
C |
3: 55,163,366 (GRCm39) |
N153H |
possibly damaging |
Het |
| Dgkg |
G |
T |
16: 22,419,211 (GRCm39) |
S96R |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,772,522 (GRCm39) |
Y3737H |
possibly damaging |
Het |
| Elovl4 |
A |
T |
9: 83,672,076 (GRCm39) |
I81N |
probably benign |
Het |
| Epha7 |
T |
A |
4: 28,950,557 (GRCm39) |
Y791N |
probably damaging |
Het |
| Fam193a |
C |
A |
5: 34,623,597 (GRCm39) |
T1395N |
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,737,623 (GRCm39) |
V141E |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,610,954 (GRCm39) |
T492A |
probably benign |
Het |
| Fnip2 |
A |
G |
3: 79,388,475 (GRCm39) |
I752T |
probably benign |
Het |
| Fpr3 |
T |
C |
17: 18,190,806 (GRCm39) |
W26R |
probably benign |
Het |
| Gabrb1 |
A |
T |
5: 72,294,105 (GRCm39) |
T460S |
probably benign |
Het |
| Gde1 |
T |
C |
7: 118,297,874 (GRCm39) |
N4S |
probably benign |
Het |
| Ghitm |
G |
T |
14: 36,847,156 (GRCm39) |
T306K |
probably benign |
Het |
| Ghitm |
A |
T |
14: 36,847,174 (GRCm39) |
I300N |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Iqcd |
T |
C |
5: 120,738,332 (GRCm39) |
I50T |
probably damaging |
Het |
| Itpripl1 |
G |
A |
2: 126,983,739 (GRCm39) |
P128S |
possibly damaging |
Het |
| Jag2 |
C |
A |
12: 112,874,154 (GRCm39) |
L1000F |
probably damaging |
Het |
| Klhdc4 |
A |
T |
8: 122,533,375 (GRCm39) |
|
probably benign |
Het |
| Klra5 |
A |
G |
6: 129,876,316 (GRCm39) |
F164L |
probably benign |
Het |
| Larp1b |
A |
G |
3: 40,931,658 (GRCm39) |
Y288C |
probably damaging |
Het |
| Lrfn3 |
T |
A |
7: 30,055,078 (GRCm39) |
E622D |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,831,439 (GRCm39) |
D1621G |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,023,665 (GRCm39) |
T353A |
probably benign |
Het |
| Mkln1 |
T |
C |
6: 31,473,647 (GRCm39) |
Y130H |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,496,882 (GRCm39) |
|
probably benign |
Het |
| Mroh7 |
T |
A |
4: 106,548,840 (GRCm39) |
M1008L |
probably benign |
Het |
| Nipal1 |
T |
C |
5: 72,825,243 (GRCm39) |
V312A |
probably damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,117,753 (GRCm39) |
Y492* |
probably null |
Het |
| Odad1 |
T |
A |
7: 45,585,756 (GRCm39) |
I105N |
probably damaging |
Het |
| Or1n1 |
T |
C |
2: 36,750,006 (GRCm39) |
Y118C |
probably damaging |
Het |
| Otulinl |
G |
A |
15: 27,660,031 (GRCm39) |
Q24* |
probably null |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,232 (GRCm39) |
D187E |
probably benign |
Het |
| Pcdhb13 |
A |
G |
18: 37,576,561 (GRCm39) |
Y313C |
probably damaging |
Het |
| Pdpn |
G |
A |
4: 143,000,526 (GRCm39) |
T102I |
possibly damaging |
Het |
| Peg10 |
T |
C |
6: 4,756,128 (GRCm39) |
|
probably benign |
Het |
| Ppm1e |
A |
G |
11: 87,128,007 (GRCm39) |
W384R |
probably benign |
Het |
| Ppp1r10 |
C |
T |
17: 36,241,324 (GRCm39) |
P700S |
unknown |
Het |
| Prl2c5 |
G |
A |
13: 13,357,627 (GRCm39) |
R13K |
probably benign |
Het |
| Prmt3 |
C |
A |
7: 49,498,554 (GRCm39) |
P487T |
probably damaging |
Het |
| Proser3 |
C |
A |
7: 30,245,573 (GRCm39) |
A144S |
possibly damaging |
Het |
| Ptcd1 |
G |
A |
5: 145,088,241 (GRCm39) |
T590I |
probably damaging |
Het |
| Rbsn |
A |
G |
6: 92,170,958 (GRCm39) |
V321A |
probably damaging |
Het |
| Slc40a1 |
C |
A |
1: 45,964,383 (GRCm39) |
C14F |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,229,369 (GRCm39) |
I136T |
probably damaging |
Het |
| Slc7a4 |
A |
G |
16: 17,391,227 (GRCm39) |
I449T |
probably benign |
Het |
| Snrnp48 |
T |
A |
13: 38,394,165 (GRCm39) |
|
probably null |
Het |
| Tada2a |
A |
G |
11: 84,011,973 (GRCm39) |
Y23H |
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,259,508 (GRCm39) |
S460C |
possibly damaging |
Het |
| Tbx21 |
C |
T |
11: 96,992,304 (GRCm39) |
|
probably null |
Het |
| Tmcc2 |
T |
G |
1: 132,285,534 (GRCm39) |
T376P |
probably damaging |
Het |
| Tmco4 |
G |
A |
4: 138,779,815 (GRCm39) |
C420Y |
probably damaging |
Het |
| Tmem235 |
C |
A |
11: 117,755,020 (GRCm39) |
Y157* |
probably null |
Het |
| Tmem63b |
T |
C |
17: 45,975,653 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf1a |
T |
C |
6: 125,334,356 (GRCm39) |
S92P |
possibly damaging |
Het |
| Top3b |
A |
T |
16: 16,704,834 (GRCm39) |
T397S |
probably benign |
Het |
| Trabd |
C |
A |
15: 88,967,007 (GRCm39) |
|
probably benign |
Het |
| Trbv21 |
A |
T |
6: 41,179,764 (GRCm39) |
I27L |
possibly damaging |
Het |
| Trim3 |
C |
T |
7: 105,268,276 (GRCm39) |
V169M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,807,458 (GRCm39) |
T92A |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,738,860 (GRCm39) |
S3893N |
probably benign |
Het |
| Uchl4 |
A |
T |
9: 64,142,821 (GRCm39) |
I101F |
possibly damaging |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,583 (GRCm39) |
M86K |
probably damaging |
Het |
| Vmn2r55 |
T |
A |
7: 12,404,830 (GRCm39) |
Q191L |
possibly damaging |
Het |
| Zfp458 |
A |
T |
13: 67,406,012 (GRCm39) |
C139* |
probably null |
Het |
| Zfp788 |
T |
C |
7: 41,299,551 (GRCm39) |
L729P |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,158,102 (GRCm39) |
M547K |
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 |
|
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 |
|
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'- AACTTGTCACACTGTGGTCCC -3'
(R):5'- AGAGCTGATGTTGGGGAGCTAC -3'
Sequencing Primer
(F):5'- GAGAAAATGGACTTAGCCCCTC -3'
(R):5'- AGCTACAGGACCCGGTATG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation