Incidental Mutation 'R7585:Ptprk'
| ID |
587069 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprk
|
| Ensembl Gene |
ENSMUSG00000019889 |
| Gene Name |
protein tyrosine phosphatase receptor type K |
| Synonyms |
RPTPkappa, PTPk |
| MMRRC Submission |
045635-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7585 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
27950816-28473393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28436084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 815
(Y815C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166468]
[ENSMUST00000218276]
[ENSMUST00000218359]
|
| AlphaFold |
P35822 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166468
AA Change: Y805C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889
AA Change: Y805C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
MAM
|
30 |
193 |
1.61e-73 |
SMART |
|
IG
|
200 |
288 |
2.16e-8 |
SMART |
|
FN3
|
290 |
373 |
1.48e-4 |
SMART |
|
FN3
|
389 |
475 |
4.24e1 |
SMART |
|
FN3
|
491 |
579 |
3.32e-7 |
SMART |
|
transmembrane domain
|
753 |
774 |
N/A |
INTRINSIC |
|
PTPc
|
898 |
1161 |
3.56e-132 |
SMART |
|
PTPc
|
1190 |
1455 |
2.68e-86 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218276
AA Change: Y815C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218359
AA Change: Y805C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219621
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,854,851 (GRCm39) |
T64A |
probably benign |
Het |
| A930009A15Rik |
T |
A |
10: 115,414,230 (GRCm39) |
V52D |
unknown |
Het |
| Aadacl2fm2 |
C |
A |
3: 59,651,143 (GRCm39) |
D88E |
possibly damaging |
Het |
| Acacb |
A |
G |
5: 114,384,073 (GRCm39) |
I2201V |
probably damaging |
Het |
| Aco2 |
A |
C |
15: 81,756,685 (GRCm39) |
|
probably benign |
Het |
| Acod1 |
C |
T |
14: 103,292,177 (GRCm39) |
Q234* |
probably null |
Het |
| Actr6 |
T |
C |
10: 89,561,658 (GRCm39) |
S163G |
probably benign |
Het |
| Agmat |
T |
C |
4: 141,477,056 (GRCm39) |
V154A |
probably benign |
Het |
| Agrn |
T |
C |
4: 156,255,131 (GRCm39) |
N1584S |
probably benign |
Het |
| Alg6 |
A |
T |
4: 99,626,371 (GRCm39) |
S60C |
probably damaging |
Het |
| Ap5s1 |
T |
C |
2: 131,054,482 (GRCm39) |
F98L |
probably damaging |
Het |
| Atp6v1f |
G |
A |
6: 29,467,927 (GRCm39) |
V38I |
possibly damaging |
Het |
| B3gnt3 |
T |
C |
8: 72,145,972 (GRCm39) |
T186A |
probably damaging |
Het |
| Brpf1 |
T |
C |
6: 113,292,007 (GRCm39) |
V351A |
possibly damaging |
Het |
| Cacna1g |
A |
G |
11: 94,364,368 (GRCm39) |
S26P |
probably benign |
Het |
| Camta1 |
G |
A |
4: 151,229,287 (GRCm39) |
S515L |
probably damaging |
Het |
| Ccdc122 |
C |
A |
14: 77,329,139 (GRCm39) |
A64E |
probably damaging |
Het |
| Ccdc89 |
C |
A |
7: 90,076,510 (GRCm39) |
T240K |
possibly damaging |
Het |
| Cercam |
T |
C |
2: 29,771,743 (GRCm39) |
L521P |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,076,737 (GRCm39) |
N561S |
probably benign |
Het |
| Clk3 |
T |
C |
9: 57,669,119 (GRCm39) |
E159G |
probably damaging |
Het |
| Cntf |
A |
T |
19: 12,741,587 (GRCm39) |
L91* |
probably null |
Het |
| Cntn4 |
T |
A |
6: 106,466,572 (GRCm39) |
I158N |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,810,888 (GRCm39) |
I194K |
probably damaging |
Het |
| Col22a1 |
T |
A |
15: 71,764,054 (GRCm39) |
D66V |
probably damaging |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,485,471 (GRCm39) |
T145A |
possibly damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,069,568 (GRCm39) |
I876V |
probably benign |
Het |
| Dlec1 |
T |
C |
9: 118,971,819 (GRCm39) |
S1335P |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,402,014 (GRCm39) |
T3392S |
probably benign |
Het |
| Dnal1 |
A |
G |
12: 84,171,267 (GRCm39) |
K21E |
probably benign |
Het |
| Dspp |
T |
C |
5: 104,323,391 (GRCm39) |
V178A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,153,096 (GRCm39) |
D119G |
possibly damaging |
Het |
| Dyrk4 |
T |
A |
6: 126,867,007 (GRCm39) |
I342F |
probably damaging |
Het |
| Eif3b |
A |
G |
5: 140,425,757 (GRCm39) |
D649G |
probably damaging |
Het |
| Exoc7 |
T |
C |
11: 116,191,124 (GRCm39) |
D259G |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,153,021 (GRCm39) |
V1159A |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,909,558 (GRCm39) |
D2148G |
probably benign |
Het |
| Fdps |
C |
A |
3: 89,001,113 (GRCm39) |
R300L |
probably benign |
Het |
| Gfm2 |
T |
C |
13: 97,315,540 (GRCm39) |
L736P |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,756,301 (GRCm39) |
T475S |
probably damaging |
Het |
| H2-M3 |
T |
G |
17: 37,581,599 (GRCm39) |
L87R |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,343,076 (GRCm39) |
I272F |
probably damaging |
Het |
| Hapln2 |
C |
T |
3: 87,929,980 (GRCm39) |
G299S |
probably damaging |
Het |
| Hdac3 |
A |
T |
18: 38,078,408 (GRCm39) |
I154N |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,352,829 (GRCm39) |
D2105G |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,658 (GRCm39) |
F413S |
probably damaging |
Het |
| Kctd13 |
A |
G |
7: 126,528,458 (GRCm39) |
T78A |
possibly damaging |
Het |
| Kif20a |
A |
G |
18: 34,758,591 (GRCm39) |
D20G |
probably benign |
Het |
| Kif26b |
A |
T |
1: 178,744,061 (GRCm39) |
I1386F |
probably benign |
Het |
| Klc4 |
T |
A |
17: 46,942,810 (GRCm39) |
M585L |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,322,933 (GRCm39) |
Y1139C |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,654,094 (GRCm39) |
I1111N |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,050,807 (GRCm39) |
D648E |
possibly damaging |
Het |
| Mmp2 |
G |
A |
8: 93,563,564 (GRCm39) |
G346D |
probably damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,631,377 (GRCm39) |
I75L |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,586,076 (GRCm39) |
V537D |
|
Het |
| Myh2 |
T |
A |
11: 67,070,237 (GRCm39) |
|
probably null |
Het |
| Myrf |
T |
C |
19: 10,194,091 (GRCm39) |
T487A |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,753,050 (GRCm39) |
L312H |
probably damaging |
Het |
| Nop14 |
G |
A |
5: 34,802,124 (GRCm39) |
P560L |
probably damaging |
Het |
| Nufip1 |
C |
G |
14: 76,348,427 (GRCm39) |
P19A |
probably benign |
Het |
| Oosp3 |
G |
T |
19: 11,678,322 (GRCm39) |
M99I |
probably benign |
Het |
| Or14c40 |
T |
C |
7: 86,313,880 (GRCm39) |
*337Q |
probably null |
Het |
| Or4c52 |
A |
T |
2: 89,845,393 (GRCm39) |
I40F |
probably damaging |
Het |
| Or4x13 |
T |
A |
2: 90,231,367 (GRCm39) |
Y121N |
probably damaging |
Het |
| Or51aa5 |
C |
A |
7: 103,167,166 (GRCm39) |
V142L |
possibly damaging |
Het |
| Or51k2 |
A |
G |
7: 103,596,607 (GRCm39) |
N278S |
probably benign |
Het |
| Or52n4b |
C |
A |
7: 108,144,598 (GRCm39) |
P289T |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,419,042 (GRCm39) |
V145A |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,040,307 (GRCm39) |
|
|
Het |
| Panx2 |
A |
G |
15: 88,952,169 (GRCm39) |
K212R |
probably damaging |
Het |
| Paxip1 |
A |
C |
5: 27,977,002 (GRCm39) |
H353Q |
unknown |
Het |
| Pbx4 |
C |
A |
8: 70,285,475 (GRCm39) |
D39E |
probably damaging |
Het |
| Phc2 |
G |
A |
4: 128,604,932 (GRCm39) |
A223T |
probably benign |
Het |
| Plcl1 |
A |
G |
1: 55,445,608 (GRCm39) |
D21G |
probably benign |
Het |
| Plec |
G |
A |
15: 76,057,632 (GRCm39) |
R4102W |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,884,608 (GRCm39) |
Y774C |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,630,828 (GRCm39) |
Y1197N |
probably damaging |
Het |
| Psmg4 |
A |
T |
13: 34,347,195 (GRCm39) |
H46L |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,346,547 (GRCm39) |
I1426V |
probably benign |
Het |
| Rbm43 |
T |
C |
2: 51,816,763 (GRCm39) |
D68G |
probably benign |
Het |
| Rgs6 |
T |
C |
12: 83,153,644 (GRCm39) |
S360P |
probably damaging |
Het |
| Rp1l1 |
T |
G |
14: 64,267,588 (GRCm39) |
L1058R |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,077,874 (GRCm39) |
S29G |
probably benign |
Het |
| Scube1 |
C |
A |
15: 83,522,988 (GRCm39) |
R284L |
possibly damaging |
Het |
| Serpinb9h |
G |
T |
13: 33,588,299 (GRCm39) |
D295Y |
probably benign |
Het |
| Slc13a3 |
T |
C |
2: 165,272,242 (GRCm39) |
Q267R |
probably benign |
Het |
| Slc49a3 |
T |
C |
5: 108,596,685 (GRCm39) |
T16A |
probably benign |
Het |
| Slc5a1 |
A |
T |
5: 33,318,288 (GRCm39) |
N647I |
probably damaging |
Het |
| Sphk2 |
A |
T |
7: 45,361,006 (GRCm39) |
S333T |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,890,068 (GRCm39) |
D1050G |
probably benign |
Het |
| Tdo2 |
G |
T |
3: 81,870,065 (GRCm39) |
A269E |
probably damaging |
Het |
| Tnc |
A |
T |
4: 63,938,648 (GRCm39) |
C64S |
probably damaging |
Het |
| Trim47 |
T |
A |
11: 115,998,383 (GRCm39) |
E360D |
probably damaging |
Het |
| Trp53i13 |
T |
A |
11: 77,399,129 (GRCm39) |
T374S |
possibly damaging |
Het |
| Try5 |
A |
G |
6: 41,288,748 (GRCm39) |
L157P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,578,176 (GRCm39) |
V24239D |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,773,667 (GRCm39) |
Y2318C |
unknown |
Het |
| Txn1 |
T |
C |
4: 57,945,199 (GRCm39) |
D68G |
possibly damaging |
Het |
| Upf3a |
A |
G |
8: 13,837,418 (GRCm39) |
D121G |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,510,239 (GRCm39) |
Y747C |
probably damaging |
Het |
| Vmn2r68 |
A |
G |
7: 84,881,587 (GRCm39) |
W498R |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Zp2 |
A |
T |
7: 119,733,167 (GRCm39) |
F591L |
probably damaging |
Het |
|
| Other mutations in Ptprk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00310:Ptprk
|
APN |
10 |
28,212,506 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00533:Ptprk
|
APN |
10 |
28,461,971 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01062:Ptprk
|
APN |
10 |
28,456,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01295:Ptprk
|
APN |
10 |
28,351,174 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01372:Ptprk
|
APN |
10 |
28,445,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01452:Ptprk
|
APN |
10 |
28,450,913 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01829:Ptprk
|
APN |
10 |
28,449,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01861:Ptprk
|
APN |
10 |
28,259,441 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01955:Ptprk
|
APN |
10 |
28,471,861 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02263:Ptprk
|
APN |
10 |
27,951,110 (GRCm39) |
missense |
unknown |
|
|
IGL02489:Ptprk
|
APN |
10 |
28,259,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02697:Ptprk
|
APN |
10 |
28,451,614 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02713:Ptprk
|
APN |
10 |
28,468,807 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02943:Ptprk
|
APN |
10 |
28,351,172 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03240:Ptprk
|
APN |
10 |
28,368,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03373:Ptprk
|
APN |
10 |
28,442,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
LCD18:Ptprk
|
UTSW |
10 |
28,450,983 (GRCm39) |
intron |
probably benign |
|
|
PIT4366001:Ptprk
|
UTSW |
10 |
28,462,015 (GRCm39) |
missense |
probably benign |
|
|
R0010:Ptprk
|
UTSW |
10 |
28,461,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Ptprk
|
UTSW |
10 |
28,468,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Ptprk
|
UTSW |
10 |
28,468,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0035:Ptprk
|
UTSW |
10 |
28,139,504 (GRCm39) |
nonsense |
probably null |
|
|
R0035:Ptprk
|
UTSW |
10 |
28,139,504 (GRCm39) |
nonsense |
probably null |
|
|
R0053:Ptprk
|
UTSW |
10 |
28,351,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0063:Ptprk
|
UTSW |
10 |
28,139,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Ptprk
|
UTSW |
10 |
28,139,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0244:Ptprk
|
UTSW |
10 |
28,082,221 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0281:Ptprk
|
UTSW |
10 |
28,449,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Ptprk
|
UTSW |
10 |
28,230,625 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0480:Ptprk
|
UTSW |
10 |
28,461,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Ptprk
|
UTSW |
10 |
28,461,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0585:Ptprk
|
UTSW |
10 |
28,451,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Ptprk
|
UTSW |
10 |
27,951,132 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0684:Ptprk
|
UTSW |
10 |
28,359,294 (GRCm39) |
splice site |
probably benign |
|
|
R1073:Ptprk
|
UTSW |
10 |
28,372,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1377:Ptprk
|
UTSW |
10 |
28,462,022 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1422:Ptprk
|
UTSW |
10 |
28,351,276 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1482:Ptprk
|
UTSW |
10 |
28,139,512 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1532:Ptprk
|
UTSW |
10 |
28,461,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1576:Ptprk
|
UTSW |
10 |
28,427,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1618:Ptprk
|
UTSW |
10 |
28,369,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1654:Ptprk
|
UTSW |
10 |
28,259,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1701:Ptprk
|
UTSW |
10 |
28,342,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1747:Ptprk
|
UTSW |
10 |
28,230,688 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2033:Ptprk
|
UTSW |
10 |
28,468,763 (GRCm39) |
unclassified |
probably benign |
|
|
R2059:Ptprk
|
UTSW |
10 |
28,442,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Ptprk
|
UTSW |
10 |
28,465,364 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2164:Ptprk
|
UTSW |
10 |
28,436,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2260:Ptprk
|
UTSW |
10 |
28,082,145 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2394:Ptprk
|
UTSW |
10 |
28,427,713 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2432:Ptprk
|
UTSW |
10 |
28,468,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Ptprk
|
UTSW |
10 |
28,230,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2495:Ptprk
|
UTSW |
10 |
28,351,074 (GRCm39) |
splice site |
probably benign |
|
|
R3037:Ptprk
|
UTSW |
10 |
28,456,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Ptprk
|
UTSW |
10 |
28,468,822 (GRCm39) |
missense |
probably benign |
|
|
R3162:Ptprk
|
UTSW |
10 |
28,468,822 (GRCm39) |
missense |
probably benign |
|
|
R3687:Ptprk
|
UTSW |
10 |
28,349,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3722:Ptprk
|
UTSW |
10 |
28,259,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3892:Ptprk
|
UTSW |
10 |
28,139,617 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3963:Ptprk
|
UTSW |
10 |
28,427,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4077:Ptprk
|
UTSW |
10 |
28,139,508 (GRCm39) |
missense |
probably benign |
|
|
R4079:Ptprk
|
UTSW |
10 |
28,139,508 (GRCm39) |
missense |
probably benign |
|
|
R4112:Ptprk
|
UTSW |
10 |
28,351,284 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4255:Ptprk
|
UTSW |
10 |
28,082,241 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4523:Ptprk
|
UTSW |
10 |
28,342,048 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4651:Ptprk
|
UTSW |
10 |
28,139,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4652:Ptprk
|
UTSW |
10 |
28,139,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4828:Ptprk
|
UTSW |
10 |
28,436,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Ptprk
|
UTSW |
10 |
28,456,480 (GRCm39) |
nonsense |
probably null |
|
|
R4883:Ptprk
|
UTSW |
10 |
28,464,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Ptprk
|
UTSW |
10 |
28,462,059 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5013:Ptprk
|
UTSW |
10 |
28,427,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5092:Ptprk
|
UTSW |
10 |
28,468,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5126:Ptprk
|
UTSW |
10 |
28,451,640 (GRCm39) |
splice site |
probably null |
|
|
R5183:Ptprk
|
UTSW |
10 |
28,351,232 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5264:Ptprk
|
UTSW |
10 |
28,461,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Ptprk
|
UTSW |
10 |
28,468,050 (GRCm39) |
splice site |
probably null |
|
|
R5330:Ptprk
|
UTSW |
10 |
28,463,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5474:Ptprk
|
UTSW |
10 |
28,372,926 (GRCm39) |
nonsense |
probably null |
|
|
R5516:Ptprk
|
UTSW |
10 |
28,372,926 (GRCm39) |
nonsense |
probably null |
|
|
R5796:Ptprk
|
UTSW |
10 |
28,259,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5843:Ptprk
|
UTSW |
10 |
28,369,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5952:Ptprk
|
UTSW |
10 |
28,461,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6065:Ptprk
|
UTSW |
10 |
28,351,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Ptprk
|
UTSW |
10 |
28,440,099 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6264:Ptprk
|
UTSW |
10 |
28,442,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6638:Ptprk
|
UTSW |
10 |
28,471,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Ptprk
|
UTSW |
10 |
28,467,978 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6860:Ptprk
|
UTSW |
10 |
28,210,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6869:Ptprk
|
UTSW |
10 |
28,349,055 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7214:Ptprk
|
UTSW |
10 |
28,450,905 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7307:Ptprk
|
UTSW |
10 |
28,465,004 (GRCm39) |
nonsense |
probably null |
|
|
R7349:Ptprk
|
UTSW |
10 |
28,468,834 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7442:Ptprk
|
UTSW |
10 |
28,450,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7661:Ptprk
|
UTSW |
10 |
28,342,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7694:Ptprk
|
UTSW |
10 |
28,465,366 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7740:Ptprk
|
UTSW |
10 |
28,372,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7810:Ptprk
|
UTSW |
10 |
28,468,853 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7831:Ptprk
|
UTSW |
10 |
28,444,404 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7836:Ptprk
|
UTSW |
10 |
28,449,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8049:Ptprk
|
UTSW |
10 |
28,259,565 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8235:Ptprk
|
UTSW |
10 |
28,465,037 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8274:Ptprk
|
UTSW |
10 |
28,456,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8286:Ptprk
|
UTSW |
10 |
28,444,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8372:Ptprk
|
UTSW |
10 |
28,230,688 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8727:Ptprk
|
UTSW |
10 |
28,442,541 (GRCm39) |
unclassified |
probably benign |
|
|
R8794:Ptprk
|
UTSW |
10 |
28,139,504 (GRCm39) |
nonsense |
probably null |
|
|
R8842:Ptprk
|
UTSW |
10 |
28,442,497 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8861:Ptprk
|
UTSW |
10 |
28,446,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Ptprk
|
UTSW |
10 |
28,467,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Ptprk
|
UTSW |
10 |
28,368,993 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8919:Ptprk
|
UTSW |
10 |
28,359,203 (GRCm39) |
nonsense |
probably null |
|
|
R8976:Ptprk
|
UTSW |
10 |
28,461,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8982:Ptprk
|
UTSW |
10 |
28,436,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Ptprk
|
UTSW |
10 |
28,461,928 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9135:Ptprk
|
UTSW |
10 |
28,456,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9308:Ptprk
|
UTSW |
10 |
28,450,850 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9317:Ptprk
|
UTSW |
10 |
28,230,731 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9475:Ptprk
|
UTSW |
10 |
28,210,476 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9585:Ptprk
|
UTSW |
10 |
28,369,147 (GRCm39) |
nonsense |
probably null |
|
|
R9625:Ptprk
|
UTSW |
10 |
28,462,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9700:Ptprk
|
UTSW |
10 |
28,456,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Ptprk
|
UTSW |
10 |
28,139,608 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Z1177:Ptprk
|
UTSW |
10 |
28,369,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGTGTTATCGTAACTCCTG -3'
(R):5'- ATAACGTCAGTTGTGTTTTACTCTC -3'
Sequencing Primer
(F):5'- CGTAACTCCTGAAATTAGGAACAG -3'
(R):5'- AGTTGTGTTTTACTCTCCCTAACTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation