Incidental Mutation 'IGL02282:Ptprn'
| ID |
289869 |
| 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 # |
IGL02282
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
75223671-75241146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75229800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 700
(Y700H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027404]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027404
AA Change: Y700H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
AA Change: Y700H
| 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 |
noncoding transcript
Transcript: ENSMUST00000187216
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191154
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,983,351 (GRCm39) |
D1545G |
probably damaging |
Het |
| Baiap3 |
A |
C |
17: 25,468,351 (GRCm39) |
D234E |
probably benign |
Het |
| Bltp2 |
C |
T |
11: 78,175,054 (GRCm39) |
P1730S |
probably benign |
Het |
| Cand1 |
T |
A |
10: 119,046,614 (GRCm39) |
T959S |
probably benign |
Het |
| Ctdspl2 |
A |
G |
2: 121,807,959 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
C |
7: 26,008,472 (GRCm39) |
M205L |
probably benign |
Het |
| Dlx5 |
G |
A |
6: 6,881,762 (GRCm39) |
A42V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,682,669 (GRCm39) |
I267T |
possibly damaging |
Het |
| Dnajb6 |
A |
G |
5: 29,957,416 (GRCm39) |
D66G |
probably damaging |
Het |
| Fgf8 |
T |
C |
19: 45,725,529 (GRCm39) |
H201R |
possibly damaging |
Het |
| Gpc1 |
A |
G |
1: 92,785,689 (GRCm39) |
K460E |
probably damaging |
Het |
| Gzme |
A |
T |
14: 56,355,826 (GRCm39) |
L162Q |
probably damaging |
Het |
| Ik |
G |
A |
18: 36,878,697 (GRCm39) |
G17D |
probably damaging |
Het |
| Il4 |
G |
A |
11: 53,509,001 (GRCm39) |
T59M |
probably damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,125,924 (GRCm39) |
|
probably null |
Het |
| Mill1 |
G |
T |
7: 17,997,129 (GRCm39) |
|
probably null |
Het |
| Npbwr1 |
A |
T |
1: 5,987,184 (GRCm39) |
M110K |
possibly damaging |
Het |
| Opalin |
A |
T |
19: 41,054,943 (GRCm39) |
S84T |
probably benign |
Het |
| Or10w1 |
T |
A |
19: 13,632,622 (GRCm39) |
D276E |
probably damaging |
Het |
| Or7g30 |
A |
G |
9: 19,352,914 (GRCm39) |
Y235C |
probably benign |
Het |
| Or8b35 |
A |
T |
9: 37,904,318 (GRCm39) |
I177F |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,556,881 (GRCm39) |
L737P |
probably damaging |
Het |
| Phip |
G |
A |
9: 82,795,743 (GRCm39) |
S626L |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,919,322 (GRCm39) |
D435G |
probably damaging |
Het |
| Prss37 |
A |
G |
6: 40,492,317 (GRCm39) |
V178A |
possibly damaging |
Het |
| Ptpn7 |
A |
G |
1: 135,062,572 (GRCm39) |
I104V |
probably damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,314,534 (GRCm39) |
T555S |
probably damaging |
Het |
| Rfwd3 |
A |
T |
8: 112,020,614 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,539,026 (GRCm39) |
R41H |
probably damaging |
Het |
| Rps3 |
A |
G |
7: 99,128,479 (GRCm39) |
|
probably null |
Het |
| Ruvbl2 |
G |
A |
7: 45,074,589 (GRCm39) |
T183I |
probably benign |
Het |
| Sema4c |
A |
T |
1: 36,589,284 (GRCm39) |
|
probably null |
Het |
| Shoc1 |
A |
C |
4: 59,111,114 (GRCm39) |
Y53D |
unknown |
Het |
| Taar8b |
T |
A |
10: 23,967,453 (GRCm39) |
K247I |
possibly damaging |
Het |
| Tacr3 |
A |
T |
3: 134,566,834 (GRCm39) |
I236F |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,022,081 (GRCm39) |
I1168T |
probably damaging |
Het |
| Ttc9b |
A |
T |
7: 27,355,336 (GRCm39) |
D202V |
probably damaging |
Het |
| Vmn2r26 |
T |
G |
6: 124,038,584 (GRCm39) |
C720G |
probably damaging |
Het |
| Vmn2r37 |
A |
G |
7: 9,209,761 (GRCm39) |
S584P |
probably benign |
Het |
| Wnk2 |
T |
A |
13: 49,221,601 (GRCm39) |
D1208V |
probably damaging |
Het |
| Zfp988 |
T |
A |
4: 147,416,125 (GRCm39) |
C186* |
probably null |
Het |
| Zp3 |
A |
G |
5: 136,013,205 (GRCm39) |
N179S |
possibly 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 |
|
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 |
|
IGL02926:Ptprn
|
APN |
1 |
75,224,517 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
2015-04-16 |
Incidental Mutation