Incidental Mutation 'R7526:Pear1'
| ID |
582969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pear1
|
| Ensembl Gene |
ENSMUSG00000028073 |
| Gene Name |
platelet endothelial aggregation receptor 1 |
| Synonyms |
Jedi-1, 3110045G13Rik |
| MMRRC Submission |
045598-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7526 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87747890-87824306 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87752568 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 704
(S704P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023846]
[ENSMUST00000029714]
[ENSMUST00000079083]
[ENSMUST00000090981]
[ENSMUST00000172621]
[ENSMUST00000173468]
[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 damaging
Transcript: ENSMUST00000029714
AA Change: S704P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073
AA Change: S704P
| 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: S704P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078090
Gene: ENSMUSG00000028073
AA Change: S704P
| 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: S704P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073
AA Change: S704P
| 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: ENSMUST00000172621
AA Change: S704P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133474
Gene: ENSMUSG00000028073
AA Change: S704P
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000134451
Gene: ENSMUSG00000028073
AA Change: S77P
| 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: 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: 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 damaging
Transcript: ENSMUST00000174759
AA Change: S704P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133323
Gene: ENSMUSG00000028073
AA Change: S704P
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (74/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
A |
T |
11: 65,152,981 (GRCm38) |
F85I |
unknown |
Het |
| Ankrd22 |
A |
T |
19: 34,149,365 (GRCm38) |
W22R |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 114,108,109 (GRCm38) |
H1287Q |
probably damaging |
Het |
| Armh1 |
C |
A |
4: 117,213,741 (GRCm38) |
A396S |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,366,609 (GRCm38) |
E791G |
probably damaging |
Het |
| Bicd1 |
T |
G |
6: 149,513,726 (GRCm38) |
S646A |
possibly damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,856,599 (GRCm38) |
Y276N |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,496,851 (GRCm38) |
H465R |
probably damaging |
Het |
| Card11 |
A |
T |
5: 140,913,429 (GRCm38) |
|
probably null |
Het |
| Ccdc9 |
A |
G |
7: 16,282,400 (GRCm38) |
L139P |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,909,945 (GRCm38) |
M355K |
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,507,080 (GRCm38) |
V116E |
probably benign |
Het |
| Defb48 |
A |
G |
14: 62,977,831 (GRCm38) |
V32A |
possibly damaging |
Het |
| Dmkn |
A |
G |
7: 30,777,651 (GRCm38) |
D460G |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,400,957 (GRCm38) |
V2170A |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,287,876 (GRCm38) |
F1912I |
possibly damaging |
Het |
| Dok3 |
C |
T |
13: 55,527,493 (GRCm38) |
V71I |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,975,474 (GRCm38) |
F178Y |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,674,410 (GRCm38) |
|
probably null |
Het |
| Eogt |
A |
G |
6: 97,113,952 (GRCm38) |
F409L |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,630,689 (GRCm38) |
L218H |
probably damaging |
Het |
| Fam186a |
G |
C |
15: 99,941,915 (GRCm38) |
I2149M |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,023,427 (GRCm38) |
V1837I |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,660,206 (GRCm38) |
T501S |
probably damaging |
Het |
| Fmn1 |
A |
C |
2: 113,688,134 (GRCm38) |
E1365D |
probably damaging |
Het |
| Fzd5 |
G |
T |
1: 64,736,092 (GRCm38) |
P170Q |
probably benign |
Het |
| Gm14326 |
G |
A |
2: 177,946,505 (GRCm38) |
H233Y |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 35,790,612 (GRCm38) |
V735M |
probably damaging |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,089,825 (GRCm38) |
|
probably benign |
Het |
| Gm2832 |
A |
T |
14: 41,280,962 (GRCm38) |
I143L |
|
Het |
| Greb1 |
G |
A |
12: 16,716,765 (GRCm38) |
T344I |
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,523,822 (GRCm38) |
Y271N |
possibly damaging |
Het |
| Grin3b |
A |
G |
10: 79,973,051 (GRCm38) |
N212D |
probably benign |
Het |
| Hgsnat |
A |
G |
8: 25,971,049 (GRCm38) |
L187P |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,656,573 (GRCm38) |
I3152T |
probably damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,695,294 (GRCm38) |
I96N |
unknown |
Het |
| Il18r1 |
T |
A |
1: 40,471,772 (GRCm38) |
L6I |
probably damaging |
Het |
| Ing3 |
G |
A |
6: 21,953,799 (GRCm38) |
V80I |
probably damaging |
Het |
| Kif18b |
T |
C |
11: 102,914,667 (GRCm38) |
I255V |
probably damaging |
Het |
| Kif2c |
A |
T |
4: 117,182,432 (GRCm38) |
N20K |
possibly damaging |
Het |
| Mfsd6l |
T |
C |
11: 68,558,038 (GRCm38) |
W572R |
probably damaging |
Het |
| Mybphl |
A |
G |
3: 108,374,180 (GRCm38) |
T71A |
probably benign |
Het |
| Myo7a |
G |
T |
7: 98,085,448 (GRCm38) |
T613K |
possibly damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,079,083 (GRCm38) |
S195P |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 31,818,323 (GRCm38) |
N603S |
probably benign |
Het |
| Or52ae9 |
T |
C |
7: 103,740,400 (GRCm38) |
Y280C |
probably damaging |
Het |
| Or8k22 |
A |
T |
2: 86,333,353 (GRCm38) |
M1K |
probably null |
Het |
| Or8k37 |
A |
G |
2: 86,639,669 (GRCm38) |
I13T |
possibly damaging |
Het |
| Parp8 |
T |
C |
13: 116,894,805 (GRCm38) |
E457G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,521,062 (GRCm38) |
F154L |
probably benign |
Het |
| Pkib |
A |
G |
10: 57,736,298 (GRCm38) |
T92A |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,998,666 (GRCm38) |
R376G |
possibly damaging |
Het |
| Pramel28 |
A |
T |
4: 143,965,817 (GRCm38) |
C205S |
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,066,327 (GRCm38) |
E527D |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,747,026 (GRCm38) |
V469A |
probably damaging |
Het |
| Rnf148 |
G |
A |
6: 23,654,284 (GRCm38) |
Q238* |
probably null |
Het |
| Scn9a |
A |
C |
2: 66,483,646 (GRCm38) |
N1909K |
probably benign |
Het |
| Sema3c |
A |
T |
5: 17,727,596 (GRCm38) |
H699L |
possibly damaging |
Het |
| Sema3f |
A |
T |
9: 107,689,728 (GRCm38) |
C201S |
probably damaging |
Het |
| Serinc2 |
T |
A |
4: 130,258,790 (GRCm38) |
D206V |
probably benign |
Het |
| Serping1 |
A |
T |
2: 84,767,293 (GRCm38) |
S415T |
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,548,872 (GRCm38) |
L50Q |
probably damaging |
Het |
| Slc25a22 |
T |
C |
7: 141,431,383 (GRCm38) |
E262G |
probably benign |
Het |
| Slc5a8 |
A |
G |
10: 88,902,491 (GRCm38) |
I205M |
probably damaging |
Het |
| Sod2 |
G |
T |
17: 13,008,031 (GRCm38) |
|
probably benign |
Het |
| Tec |
T |
C |
5: 72,786,019 (GRCm38) |
I118V |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,287,812 (GRCm38) |
V1212E |
probably damaging |
Het |
| Tex44 |
G |
A |
1: 86,426,515 (GRCm38) |
V49I |
probably benign |
Het |
| Tmem132d |
A |
T |
5: 127,784,141 (GRCm38) |
L972* |
probably null |
Het |
| Tpte |
G |
A |
8: 22,325,547 (GRCm38) |
|
probably null |
Het |
| Trim6 |
T |
A |
7: 104,232,832 (GRCm38) |
I456N |
probably damaging |
Het |
| Ubr4 |
G |
C |
4: 139,422,417 (GRCm38) |
V520L |
probably benign |
Het |
| Ubxn8 |
A |
T |
8: 33,633,607 (GRCm38) |
N101K |
probably benign |
Het |
| Vmn2r60 |
AG |
A |
7: 42,195,734 (GRCm38) |
|
probably null |
Het |
| Vmn2r83 |
A |
G |
10: 79,491,558 (GRCm38) |
T667A |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 134,200,073 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Pear1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Pear1
|
APN |
3 |
87,752,116 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL01810:Pear1
|
APN |
3 |
87,752,301 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02269:Pear1
|
APN |
3 |
87,756,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02635:Pear1
|
APN |
3 |
87,750,146 (GRCm38) |
makesense |
probably null |
|
|
R0040:Pear1
|
UTSW |
3 |
87,754,358 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0040:Pear1
|
UTSW |
3 |
87,754,358 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0050:Pear1
|
UTSW |
3 |
87,755,987 (GRCm38) |
nonsense |
probably null |
|
|
R0050:Pear1
|
UTSW |
3 |
87,755,987 (GRCm38) |
nonsense |
probably null |
|
|
R0090:Pear1
|
UTSW |
3 |
87,754,342 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0547:Pear1
|
UTSW |
3 |
87,788,800 (GRCm38) |
splice site |
probably null |
|
|
R1024:Pear1
|
UTSW |
3 |
87,760,299 (GRCm38) |
unclassified |
probably benign |
|
|
R1612:Pear1
|
UTSW |
3 |
87,751,853 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1637:Pear1
|
UTSW |
3 |
87,756,753 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1772:Pear1
|
UTSW |
3 |
87,754,492 (GRCm38) |
unclassified |
probably benign |
|
|
R1888:Pear1
|
UTSW |
3 |
87,810,575 (GRCm38) |
splice site |
probably benign |
|
|
R2129:Pear1
|
UTSW |
3 |
87,758,359 (GRCm38) |
nonsense |
probably null |
|
|
R2255:Pear1
|
UTSW |
3 |
87,752,186 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3551:Pear1
|
UTSW |
3 |
87,758,132 (GRCm38) |
missense |
probably benign |
|
|
R3855:Pear1
|
UTSW |
3 |
87,751,921 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4021:Pear1
|
UTSW |
3 |
87,756,222 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4546:Pear1
|
UTSW |
3 |
87,754,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5364:Pear1
|
UTSW |
3 |
87,758,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5447:Pear1
|
UTSW |
3 |
87,759,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5504:Pear1
|
UTSW |
3 |
87,752,695 (GRCm38) |
splice site |
probably benign |
|
|
R6026:Pear1
|
UTSW |
3 |
87,756,913 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6061:Pear1
|
UTSW |
3 |
87,755,931 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6155:Pear1
|
UTSW |
3 |
87,759,568 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6175:Pear1
|
UTSW |
3 |
87,752,133 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6339:Pear1
|
UTSW |
3 |
87,752,520 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6385:Pear1
|
UTSW |
3 |
87,754,199 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6715:Pear1
|
UTSW |
3 |
87,759,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6929:Pear1
|
UTSW |
3 |
87,759,565 (GRCm38) |
nonsense |
probably null |
|
|
R7088:Pear1
|
UTSW |
3 |
87,754,638 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7097:Pear1
|
UTSW |
3 |
87,751,445 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7229:Pear1
|
UTSW |
3 |
87,750,289 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7334:Pear1
|
UTSW |
3 |
87,750,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7872:Pear1
|
UTSW |
3 |
87,752,215 (GRCm38) |
missense |
probably benign |
|
|
R8925:Pear1
|
UTSW |
3 |
87,754,583 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8927:Pear1
|
UTSW |
3 |
87,754,583 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9014:Pear1
|
UTSW |
3 |
87,751,172 (GRCm38) |
missense |
probably benign |
|
|
R9405:Pear1
|
UTSW |
3 |
87,752,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9455:Pear1
|
UTSW |
3 |
87,759,181 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9593:Pear1
|
UTSW |
3 |
87,751,173 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9637:Pear1
|
UTSW |
3 |
87,759,105 (GRCm38) |
missense |
probably benign |
0.23 |
|
X0063:Pear1
|
UTSW |
3 |
87,754,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Pear1
|
UTSW |
3 |
87,751,340 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTGCCAGTGAACTTGAGTG -3'
(R):5'- AGGATGGGAGCTGTATCTGC -3'
Sequencing Primer
(F):5'- CCAGTGAACTTGAGTGCATTGTAAG -3'
(R):5'- AGCTGTATCTGCACGCCAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation