Incidental Mutation 'IGL02926:Ptprn'
ID |
363875 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ptprn
|
Ensembl Gene |
ENSMUSG00000026204 |
Gene Name |
protein tyrosine phosphatase receptor type N |
Synonyms |
IA-2 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.606)
|
Stock # |
IGL02926
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
75223671-75241146 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75224517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 946
(H946Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027404]
[ENSMUST00000055223]
[ENSMUST00000082158]
[ENSMUST00000185403]
[ENSMUST00000187058]
[ENSMUST00000188290]
[ENSMUST00000188931]
[ENSMUST00000188346]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027404
AA Change: H946Q
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027404 Gene: ENSMUSG00000026204 AA Change: H946Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
RESP18
|
63 |
164 |
1.5e-51 |
SMART |
low complexity region
|
174 |
201 |
N/A |
INTRINSIC |
low complexity region
|
217 |
235 |
N/A |
INTRINSIC |
low complexity region
|
360 |
368 |
N/A |
INTRINSIC |
Pfam:Receptor_IA-2
|
471 |
559 |
7e-33 |
PFAM |
transmembrane domain
|
579 |
601 |
N/A |
INTRINSIC |
low complexity region
|
650 |
679 |
N/A |
INTRINSIC |
PTPc
|
710 |
973 |
1.2e-112 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000055223
|
SMART Domains |
Protein: ENSMUSP00000052520 Gene: ENSMUSG00000026203
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
1.46e-29 |
SMART |
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
low complexity region
|
119 |
148 |
N/A |
INTRINSIC |
UIM
|
189 |
208 |
3.05e1 |
SMART |
UIM
|
232 |
251 |
5.19e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000082158
|
SMART Domains |
Protein: ENSMUSP00000080796 Gene: ENSMUSG00000026203
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
2.1e-30 |
SMART |
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
low complexity region
|
137 |
166 |
N/A |
INTRINSIC |
UIM
|
207 |
226 |
3.05e1 |
SMART |
UIM
|
250 |
269 |
5.19e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185403
|
SMART Domains |
Protein: ENSMUSP00000139982 Gene: ENSMUSG00000026203
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
2.8e-32 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187058
|
SMART Domains |
Protein: ENSMUSP00000140637 Gene: ENSMUSG00000026203
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
1.46e-29 |
SMART |
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
low complexity region
|
119 |
148 |
N/A |
INTRINSIC |
UIM
|
189 |
208 |
3.05e1 |
SMART |
UIM
|
232 |
251 |
5.19e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188290
|
SMART Domains |
Protein: ENSMUSP00000140634 Gene: ENSMUSG00000026203
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
2.1e-30 |
SMART |
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
low complexity region
|
137 |
166 |
N/A |
INTRINSIC |
UIM
|
207 |
226 |
3.05e1 |
SMART |
UIM
|
250 |
269 |
5.19e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191154
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190445
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188931
|
SMART Domains |
Protein: ENSMUSP00000140566 Gene: ENSMUSG00000026203
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
2.1e-30 |
SMART |
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
low complexity region
|
137 |
166 |
N/A |
INTRINSIC |
UIM
|
207 |
226 |
3.05e1 |
SMART |
UIM
|
250 |
269 |
5.19e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188346
|
SMART Domains |
Protein: ENSMUSP00000140588 Gene: ENSMUSG00000026203
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
2.1e-30 |
SMART |
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
low complexity region
|
137 |
166 |
N/A |
INTRINSIC |
UIM
|
207 |
226 |
3.05e1 |
SMART |
UIM
|
250 |
269 |
5.19e-2 |
SMART |
|
Coding Region Coverage |
|
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 a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010] PHENOTYPE: Mice homozygous for a disruption in this gene on a NOD background display insulitis and increased susceptibility to autoimmune diabetes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
A |
T |
6: 85,618,432 (GRCm39) |
D2826V |
probably damaging |
Het |
Alpl |
C |
T |
4: 137,469,945 (GRCm39) |
A460T |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 142,976,963 (GRCm39) |
|
probably benign |
Het |
C4b |
C |
T |
17: 34,949,686 (GRCm39) |
R1468Q |
possibly damaging |
Het |
Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
Cgn |
T |
C |
3: 94,685,326 (GRCm39) |
K399R |
probably benign |
Het |
Ciao3 |
A |
G |
17: 26,001,128 (GRCm39) |
H460R |
probably benign |
Het |
Cyp2t4 |
G |
A |
7: 26,857,228 (GRCm39) |
V356M |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,044,604 (GRCm39) |
D683G |
probably damaging |
Het |
Dhcr24 |
T |
A |
4: 106,443,552 (GRCm39) |
I410N |
probably damaging |
Het |
Dmap1 |
T |
A |
4: 117,539,085 (GRCm39) |
E17V |
probably benign |
Het |
Dnaaf9 |
C |
T |
2: 130,554,286 (GRCm39) |
R921K |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,535,109 (GRCm39) |
I2717T |
possibly damaging |
Het |
Epb41l3 |
G |
T |
17: 69,554,741 (GRCm39) |
K280N |
probably damaging |
Het |
Espl1 |
T |
A |
15: 102,208,290 (GRCm39) |
M432K |
probably damaging |
Het |
Fgf5 |
C |
A |
5: 98,409,874 (GRCm39) |
A141E |
probably damaging |
Het |
Fto |
T |
A |
8: 92,211,795 (GRCm39) |
F373L |
probably damaging |
Het |
Gpatch1 |
T |
C |
7: 35,007,694 (GRCm39) |
D122G |
probably damaging |
Het |
Ints11 |
T |
C |
4: 155,972,568 (GRCm39) |
|
probably null |
Het |
Jarid2 |
A |
G |
13: 45,056,405 (GRCm39) |
Q398R |
probably benign |
Het |
Kcnh1 |
A |
G |
1: 191,959,208 (GRCm39) |
D254G |
probably damaging |
Het |
Lamc3 |
C |
T |
2: 31,825,738 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
C |
T |
2: 31,825,737 (GRCm39) |
|
probably benign |
Het |
Ltbp4 |
T |
C |
7: 27,028,297 (GRCm39) |
|
probably null |
Het |
Mcm6 |
A |
G |
1: 128,267,119 (GRCm39) |
Y575H |
probably damaging |
Het |
Myh9 |
A |
C |
15: 77,671,826 (GRCm39) |
Y422D |
probably damaging |
Het |
Or4c35 |
T |
C |
2: 89,808,506 (GRCm39) |
L128P |
probably damaging |
Het |
Or5b105 |
A |
C |
19: 13,080,187 (GRCm39) |
N160K |
possibly damaging |
Het |
Or8b47 |
T |
C |
9: 38,435,021 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
T |
C |
2: 135,206,682 (GRCm39) |
|
probably benign |
Het |
Pmfbp1 |
A |
G |
8: 110,246,881 (GRCm39) |
E251G |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,291,054 (GRCm39) |
V383E |
probably damaging |
Het |
Rbl1 |
A |
G |
2: 157,009,333 (GRCm39) |
V734A |
probably benign |
Het |
Rspry1 |
T |
A |
8: 95,376,439 (GRCm39) |
N320K |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,760,965 (GRCm39) |
V3219D |
probably damaging |
Het |
Ryr2 |
C |
A |
13: 11,774,721 (GRCm39) |
W1145L |
probably damaging |
Het |
Scel |
A |
T |
14: 103,813,683 (GRCm39) |
R319* |
probably null |
Het |
Stxbp2 |
C |
T |
8: 3,685,629 (GRCm39) |
T226I |
probably benign |
Het |
Tac1 |
A |
T |
6: 7,562,410 (GRCm39) |
N106I |
possibly damaging |
Het |
Trim13 |
G |
T |
14: 61,842,693 (GRCm39) |
|
probably null |
Het |
Tspan31 |
T |
G |
10: 126,904,778 (GRCm39) |
|
probably null |
Het |
Usp36 |
C |
T |
11: 118,155,609 (GRCm39) |
V723M |
probably benign |
Het |
Utrn |
A |
T |
10: 12,566,504 (GRCm39) |
N1219K |
probably damaging |
Het |
Vcan |
G |
T |
13: 89,836,742 (GRCm39) |
T2934K |
probably damaging |
Het |
|
Other mutations in Ptprn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01772:Ptprn
|
APN |
1 |
75,228,914 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01900:Ptprn
|
APN |
1 |
75,228,892 (GRCm39) |
splice site |
probably benign |
|
IGL02189:Ptprn
|
APN |
1 |
75,235,139 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02282:Ptprn
|
APN |
1 |
75,229,800 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02452:Ptprn
|
APN |
1 |
75,234,813 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02865:Ptprn
|
APN |
1 |
75,239,007 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03062:Ptprn
|
APN |
1 |
75,224,517 (GRCm39) |
missense |
possibly damaging |
0.95 |
ascorbic
|
UTSW |
1 |
75,224,537 (GRCm39) |
missense |
probably benign |
0.16 |
Delusion
|
UTSW |
1 |
75,224,810 (GRCm39) |
missense |
probably damaging |
1.00 |
H8562:Ptprn
|
UTSW |
1 |
75,231,264 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0051:Ptprn
|
UTSW |
1 |
75,228,898 (GRCm39) |
critical splice donor site |
probably null |
|
R0107:Ptprn
|
UTSW |
1 |
75,232,356 (GRCm39) |
missense |
probably damaging |
0.99 |
R0801:Ptprn
|
UTSW |
1 |
75,228,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R0865:Ptprn
|
UTSW |
1 |
75,224,782 (GRCm39) |
splice site |
probably null |
|
R1120:Ptprn
|
UTSW |
1 |
75,234,825 (GRCm39) |
missense |
probably benign |
0.00 |
R1534:Ptprn
|
UTSW |
1 |
75,234,587 (GRCm39) |
critical splice donor site |
probably null |
|
R1740:Ptprn
|
UTSW |
1 |
75,238,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R1857:Ptprn
|
UTSW |
1 |
75,224,549 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1927:Ptprn
|
UTSW |
1 |
75,230,766 (GRCm39) |
missense |
probably benign |
0.00 |
R1974:Ptprn
|
UTSW |
1 |
75,231,464 (GRCm39) |
splice site |
probably null |
|
R2071:Ptprn
|
UTSW |
1 |
75,231,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R2223:Ptprn
|
UTSW |
1 |
75,234,581 (GRCm39) |
unclassified |
probably benign |
|
R3714:Ptprn
|
UTSW |
1 |
75,229,411 (GRCm39) |
splice site |
probably null |
|
R4617:Ptprn
|
UTSW |
1 |
75,228,931 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4832:Ptprn
|
UTSW |
1 |
75,234,909 (GRCm39) |
missense |
probably benign |
0.37 |
R5503:Ptprn
|
UTSW |
1 |
75,228,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R5926:Ptprn
|
UTSW |
1 |
75,231,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R6217:Ptprn
|
UTSW |
1 |
75,224,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R6419:Ptprn
|
UTSW |
1 |
75,240,681 (GRCm39) |
missense |
probably benign |
0.10 |
R6793:Ptprn
|
UTSW |
1 |
75,234,786 (GRCm39) |
missense |
probably benign |
0.38 |
R6964:Ptprn
|
UTSW |
1 |
75,237,293 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7071:Ptprn
|
UTSW |
1 |
75,237,263 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7680:Ptprn
|
UTSW |
1 |
75,224,537 (GRCm39) |
missense |
probably benign |
0.16 |
R7777:Ptprn
|
UTSW |
1 |
75,228,946 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7883:Ptprn
|
UTSW |
1 |
75,239,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R8233:Ptprn
|
UTSW |
1 |
75,229,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R8243:Ptprn
|
UTSW |
1 |
75,229,179 (GRCm39) |
missense |
probably damaging |
0.99 |
R8941:Ptprn
|
UTSW |
1 |
75,228,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R9076:Ptprn
|
UTSW |
1 |
75,229,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R9382:Ptprn
|
UTSW |
1 |
75,229,135 (GRCm39) |
missense |
probably benign |
0.05 |
X0017:Ptprn
|
UTSW |
1 |
75,229,909 (GRCm39) |
missense |
probably benign |
0.15 |
Z1088:Ptprn
|
UTSW |
1 |
75,237,264 (GRCm39) |
missense |
possibly damaging |
0.70 |
Z1176:Ptprn
|
UTSW |
1 |
75,228,462 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Ptprn
|
UTSW |
1 |
75,234,681 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2015-12-18 |