Incidental Mutation 'R0051:Ptprn'
| ID |
16216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprn
|
| Ensembl Gene |
ENSMUSG00000026204 |
| Gene Name |
protein tyrosine phosphatase receptor type N |
| Synonyms |
IA-2 |
| MMRRC Submission |
038345-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.606)
|
| Stock # |
R0051 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75223671-75241146 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 75228898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027404]
[ENSMUST00000027404]
[ENSMUST00000027404]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027404
|
| SMART Domains |
Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
| 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 null
Transcript: ENSMUST00000027404
|
| SMART Domains |
Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
| 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 null
Transcript: ENSMUST00000027404
|
| SMART Domains |
Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
| 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 |
- 1x: 88.8%
- 3x: 85.7%
- 10x: 76.8%
- 20x: 60.8%
|
| Validation Efficiency |
84% (69/82) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6330444E15Rik |
A |
G |
7: 29,278,526 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd11 |
C |
A |
8: 123,616,481 (GRCm39) |
C2457F |
probably damaging |
Het |
| Anks3 |
G |
C |
16: 4,765,613 (GRCm39) |
T163S |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,833,052 (GRCm39) |
P908S |
probably damaging |
Het |
| Ccdc146 |
C |
A |
5: 21,521,902 (GRCm39) |
R374L |
possibly damaging |
Het |
| Cdc45 |
G |
T |
16: 18,613,524 (GRCm39) |
A348E |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,255,951 (GRCm39) |
C300R |
probably damaging |
Het |
| Coq2 |
T |
C |
5: 100,811,551 (GRCm39) |
N146S |
probably benign |
Het |
| Dalrd3 |
T |
C |
9: 108,449,414 (GRCm39) |
V120A |
possibly damaging |
Het |
| Ddx39a |
A |
G |
8: 84,447,251 (GRCm39) |
K137R |
possibly damaging |
Het |
| Diaph3 |
A |
G |
14: 87,274,890 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
G |
T |
7: 130,721,225 (GRCm39) |
R1668L |
possibly damaging |
Het |
| Dpp7 |
A |
G |
2: 25,246,107 (GRCm39) |
Y49H |
possibly damaging |
Het |
| Drd5 |
A |
G |
5: 38,477,957 (GRCm39) |
S317G |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,832,729 (GRCm39) |
L877S |
probably damaging |
Het |
| Ecsit |
C |
T |
9: 21,987,584 (GRCm39) |
V152I |
probably benign |
Het |
| Eeig1 |
G |
A |
2: 32,448,065 (GRCm39) |
R58Q |
possibly damaging |
Het |
| Fcrl6 |
A |
T |
1: 172,426,320 (GRCm39) |
L159Q |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,678,946 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
C |
A |
17: 73,814,854 (GRCm39) |
R403L |
probably benign |
Het |
| Hspd1 |
A |
G |
1: 55,121,205 (GRCm39) |
|
probably benign |
Het |
| Klf17 |
T |
C |
4: 117,617,589 (GRCm39) |
Y256C |
probably damaging |
Het |
| Mafg |
G |
T |
11: 120,520,430 (GRCm39) |
R57S |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,880,720 (GRCm39) |
W1271R |
probably damaging |
Het |
| Mrpl4 |
C |
A |
9: 20,918,964 (GRCm39) |
T203K |
probably damaging |
Het |
| Mtrf1l |
T |
C |
10: 5,763,382 (GRCm39) |
K316E |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,349,422 (GRCm39) |
N2361K |
probably benign |
Het |
| Ncaph2 |
T |
C |
15: 89,253,867 (GRCm39) |
S320P |
probably damaging |
Het |
| Nek11 |
A |
G |
9: 105,095,738 (GRCm39) |
|
probably benign |
Het |
| Rab37 |
T |
C |
11: 115,049,491 (GRCm39) |
L100P |
probably damaging |
Het |
| Rbm26 |
A |
C |
14: 105,389,976 (GRCm39) |
V216G |
possibly damaging |
Het |
| Rnf115 |
A |
G |
3: 96,692,338 (GRCm39) |
D178G |
probably damaging |
Het |
| Rtel1 |
C |
T |
2: 180,992,449 (GRCm39) |
Q424* |
probably null |
Het |
| Rwdd4a |
A |
G |
8: 47,990,400 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,699,420 (GRCm39) |
D890G |
probably damaging |
Het |
| Serpina10 |
A |
G |
12: 103,593,156 (GRCm39) |
|
probably benign |
Het |
| Slc43a2 |
T |
C |
11: 75,453,676 (GRCm39) |
C225R |
probably damaging |
Het |
| Slc6a9 |
T |
C |
4: 117,722,056 (GRCm39) |
F440L |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
| Syna |
A |
G |
5: 134,588,397 (GRCm39) |
L184P |
probably damaging |
Het |
| Tbx10 |
T |
C |
19: 4,046,798 (GRCm39) |
|
probably null |
Het |
| Tmprss7 |
T |
C |
16: 45,494,302 (GRCm39) |
N401S |
probably damaging |
Het |
| Tut4 |
T |
G |
4: 108,384,201 (GRCm39) |
S1089R |
probably damaging |
Het |
| Ugt2a3 |
A |
G |
5: 87,484,865 (GRCm39) |
V53A |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 20,012,474 (GRCm39) |
Y557* |
probably null |
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 |
|
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 |
|
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 |
2013-01-08 |
Incidental Mutation