Incidental Mutation 'R5330:Ptprk'
| ID |
482198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprk
|
| Ensembl Gene |
ENSMUSG00000019889 |
| Gene Name |
protein tyrosine phosphatase receptor type K |
| Synonyms |
RPTPkappa, PTPk |
| MMRRC Submission |
042912-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5330 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
27950816-28473393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28463076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 189
(D189V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166468]
[ENSMUST00000218276]
[ENSMUST00000218359]
[ENSMUST00000220357]
|
| AlphaFold |
P35822 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166468
AA Change: D1254V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126279
Gene: ENSMUSG00000019889
AA Change: D1254V
| 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: D1268V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218359
AA Change: D1242V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220357
AA Change: D189V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220404
|
| Meta Mutation Damage Score |
0.9642 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
99% (95/96) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A2m |
A |
G |
6: 121,615,375 (GRCm39) |
D83G |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,102,600 (GRCm39) |
I833N |
probably benign |
Het |
| Adam6b |
C |
A |
12: 113,454,200 (GRCm39) |
P339H |
possibly damaging |
Het |
| Adgrb2 |
A |
T |
4: 129,915,995 (GRCm39) |
H1505L |
possibly damaging |
Het |
| Aktip |
A |
T |
8: 91,853,352 (GRCm39) |
F122I |
probably damaging |
Het |
| Ankrd27 |
T |
A |
7: 35,315,351 (GRCm39) |
L500* |
probably null |
Het |
| Blm |
T |
C |
7: 80,108,684 (GRCm39) |
E55G |
possibly damaging |
Het |
| Carmil1 |
A |
T |
13: 24,209,929 (GRCm39) |
|
probably null |
Het |
| Cdca7 |
T |
C |
2: 72,315,042 (GRCm39) |
C311R |
probably damaging |
Het |
| Cds1 |
T |
C |
5: 101,946,361 (GRCm39) |
S187P |
probably damaging |
Het |
| Chuk |
A |
T |
19: 44,067,394 (GRCm39) |
V587E |
probably damaging |
Het |
| Commd10 |
T |
C |
18: 47,093,497 (GRCm39) |
V19A |
probably damaging |
Het |
| Ctnnd2 |
C |
T |
15: 30,332,261 (GRCm39) |
T48I |
probably damaging |
Het |
| Cyp2b10 |
T |
A |
7: 25,613,414 (GRCm39) |
Y203* |
probably null |
Het |
| Dchs1 |
A |
T |
7: 105,403,809 (GRCm39) |
V2911E |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,495,787 (GRCm39) |
E1472K |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,542,871 (GRCm39) |
T3514A |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,051,573 (GRCm39) |
I3074F |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Elp1 |
T |
C |
4: 56,800,001 (GRCm39) |
T42A |
probably benign |
Het |
| Fam131c |
A |
T |
4: 141,110,141 (GRCm39) |
T180S |
probably benign |
Het |
| Fbxo41 |
T |
C |
6: 85,456,888 (GRCm39) |
E427G |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,082,583 (GRCm39) |
K236E |
possibly damaging |
Het |
| Gm10152 |
A |
T |
7: 144,317,283 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10313 |
T |
A |
8: 46,708,490 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5414 |
C |
A |
15: 101,533,099 (GRCm39) |
V443F |
probably damaging |
Het |
| Gm7334 |
T |
C |
17: 51,006,160 (GRCm39) |
S149P |
possibly damaging |
Het |
| Grik2 |
G |
A |
10: 49,008,867 (GRCm39) |
T740M |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,088,180 (GRCm39) |
Y930C |
probably damaging |
Het |
| Hepacam2 |
T |
C |
6: 3,483,377 (GRCm39) |
T211A |
probably benign |
Het |
| Herc4 |
G |
T |
10: 63,143,578 (GRCm39) |
E703* |
probably null |
Het |
| Hivep2 |
A |
G |
10: 14,007,164 (GRCm39) |
K1254R |
probably damaging |
Het |
| Hras |
T |
C |
7: 140,772,853 (GRCm39) |
M1V |
probably null |
Het |
| Il23r |
T |
G |
6: 67,400,479 (GRCm39) |
Q617P |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,388,693 (GRCm39) |
T789A |
probably damaging |
Het |
| Kcnj12 |
A |
G |
11: 60,961,012 (GRCm39) |
K437E |
probably benign |
Het |
| Lct |
A |
T |
1: 128,226,266 (GRCm39) |
D1374E |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,494,707 (GRCm39) |
C104* |
probably null |
Het |
| Lurap1 |
G |
A |
4: 116,001,601 (GRCm39) |
L31F |
probably damaging |
Het |
| Mark4 |
G |
A |
7: 19,170,908 (GRCm39) |
P321S |
probably damaging |
Het |
| Med18 |
A |
G |
4: 132,190,377 (GRCm39) |
|
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,142,598 (GRCm39) |
S5G |
probably benign |
Het |
| Mrgprb3 |
T |
C |
7: 48,292,682 (GRCm39) |
T290A |
possibly damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,069,222 (GRCm39) |
|
probably benign |
Het |
| Negr1 |
A |
T |
3: 156,774,913 (GRCm39) |
K210* |
probably null |
Het |
| Nktr |
T |
C |
9: 121,581,834 (GRCm39) |
|
probably benign |
Het |
| Nob1 |
T |
G |
8: 108,142,881 (GRCm39) |
T267P |
probably damaging |
Het |
| Nos3 |
A |
G |
5: 24,574,902 (GRCm39) |
E307G |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,540,111 (GRCm39) |
T796A |
probably damaging |
Het |
| Nwd2 |
C |
A |
5: 63,963,859 (GRCm39) |
L1148I |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,770,486 (GRCm39) |
V988E |
probably damaging |
Het |
| Pcdha4 |
G |
A |
18: 37,087,755 (GRCm39) |
R646H |
probably benign |
Het |
| Per3 |
G |
T |
4: 151,125,759 (GRCm39) |
L187I |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,660,667 (GRCm39) |
D774G |
probably damaging |
Het |
| Pibf1 |
T |
C |
14: 99,378,082 (GRCm39) |
Y403H |
probably damaging |
Het |
| Plcl2 |
G |
A |
17: 50,816,876 (GRCm39) |
A81T |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,638,101 (GRCm39) |
N123D |
probably benign |
Het |
| Psma5 |
T |
G |
3: 108,175,386 (GRCm39) |
V146G |
possibly damaging |
Het |
| Relb |
C |
T |
7: 19,340,630 (GRCm39) |
G509S |
possibly damaging |
Het |
| Rgs11 |
A |
T |
17: 26,421,947 (GRCm39) |
M1L |
probably benign |
Het |
| Rhbg |
T |
A |
3: 88,152,775 (GRCm39) |
T313S |
probably benign |
Het |
| Ripply2 |
T |
A |
9: 86,897,691 (GRCm39) |
|
probably benign |
Het |
| Scap |
T |
C |
9: 110,210,701 (GRCm39) |
V1011A |
probably benign |
Het |
| Scarf1 |
G |
A |
11: 75,406,406 (GRCm39) |
G230D |
probably damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,343,351 (GRCm39) |
Y314N |
possibly damaging |
Het |
| Slc17a8 |
A |
G |
10: 89,425,356 (GRCm39) |
|
probably null |
Het |
| Slc22a14 |
A |
T |
9: 119,059,662 (GRCm39) |
L153Q |
probably damaging |
Het |
| Slc22a27 |
A |
G |
19: 7,856,820 (GRCm39) |
I406T |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,730,190 (GRCm39) |
D355G |
probably benign |
Het |
| Snta1 |
C |
A |
2: 154,219,940 (GRCm39) |
E403* |
probably null |
Het |
| Socs7 |
A |
G |
11: 97,268,852 (GRCm39) |
D382G |
possibly damaging |
Het |
| Spata31d1a |
A |
T |
13: 59,848,217 (GRCm39) |
C1304S |
possibly damaging |
Het |
| Srebf2 |
T |
A |
15: 82,080,409 (GRCm39) |
I834N |
possibly damaging |
Het |
| Steap1 |
G |
T |
5: 5,790,422 (GRCm39) |
H175Q |
probably damaging |
Het |
| Sult2a8 |
T |
C |
7: 14,147,679 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,335,258 (GRCm39) |
S524P |
probably damaging |
Het |
| Tbc1d9b |
C |
T |
11: 50,037,140 (GRCm39) |
A263V |
probably benign |
Het |
| Tecta |
A |
C |
9: 42,249,152 (GRCm39) |
D1903E |
probably damaging |
Het |
| Tmem222 |
A |
C |
4: 133,004,935 (GRCm39) |
M34R |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,596,167 (GRCm39) |
T187A |
probably damaging |
Het |
| Trpv4 |
A |
G |
5: 114,773,604 (GRCm39) |
Y253H |
probably damaging |
Het |
| Trpv5 |
G |
A |
6: 41,637,266 (GRCm39) |
R358C |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,910,257 (GRCm39) |
V800A |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,460,578 (GRCm39) |
G2613E |
probably benign |
Het |
| Vmn2r58 |
G |
A |
7: 41,513,384 (GRCm39) |
Q420* |
probably null |
Het |
| Zranb3 |
G |
A |
1: 127,887,457 (GRCm39) |
P990L |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,993,912 (GRCm39) |
D748V |
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 |
|
|
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 |
|
R7585:Ptprk
|
UTSW |
10 |
28,436,084 (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'- ATGGGTCACTATCTTCTAACCTCTG -3'
(R):5'- AGTTGCTAAGAATCCCTGGAG -3'
Sequencing Primer
(F):5'- TCCTCTTTAGACTCTGAATTCGG -3'
(R):5'- AAAGTAGCCAGTGTCCAG -3'
|
| Posted On |
2017-07-11 |
Incidental Mutation