Incidental Mutation 'IGL02452:Ptprn'
| ID |
293698 |
| 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 # |
IGL02452
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
75223671-75241146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75234813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 258
(H258L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027404]
[ENSMUST00000185849]
[ENSMUST00000186178]
[ENSMUST00000189769]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027404
AA Change: H258L
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
AA Change: H258L
| 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: ENSMUST00000185849
|
| SMART Domains |
Protein: ENSMUSP00000140062
Gene: ENSMUSG00000026204
| Domain | Start | End | E-Value | Type |
|---|
|
RESP18
|
1 |
62 |
5e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186178
|
| SMART Domains |
Protein: ENSMUSP00000139925
Gene: ENSMUSG00000026204
| Domain | Start | End | E-Value | Type |
|---|
|
RESP18
|
27 |
128 |
1.5e-51 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187216
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188401
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189769
|
| SMART Domains |
Protein: ENSMUSP00000140168
Gene: ENSMUSG00000026204
| Domain | Start | End | E-Value | Type |
|---|
|
RESP18
|
56 |
157 |
1.5e-51 |
SMART |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
C |
A |
3: 153,647,607 (GRCm39) |
V11F |
probably damaging |
Het |
| Alk |
A |
T |
17: 72,209,620 (GRCm39) |
Y941* |
probably null |
Het |
| Blm |
A |
T |
7: 80,153,125 (GRCm39) |
|
probably null |
Het |
| Blvrb |
T |
C |
7: 27,158,765 (GRCm39) |
V55A |
possibly damaging |
Het |
| Cdh23 |
T |
A |
10: 60,153,721 (GRCm39) |
T2288S |
probably damaging |
Het |
| Csnk1g1 |
T |
A |
9: 65,915,067 (GRCm39) |
M242K |
probably damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
| Cyp2d26 |
T |
A |
15: 82,676,827 (GRCm39) |
H173L |
probably benign |
Het |
| Cyp2g1 |
T |
A |
7: 26,510,871 (GRCm39) |
S131T |
probably benign |
Het |
| Dusp29 |
G |
A |
14: 21,752,990 (GRCm39) |
T52I |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,758,900 (GRCm39) |
|
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,208,274 (GRCm39) |
S427P |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,699,006 (GRCm39) |
D2424E |
probably benign |
Het |
| Flrt2 |
G |
A |
12: 95,746,257 (GRCm39) |
M198I |
probably benign |
Het |
| Gen1 |
A |
T |
12: 11,292,576 (GRCm39) |
S404R |
probably benign |
Het |
| Gm11596 |
A |
T |
11: 99,683,806 (GRCm39) |
C105S |
unknown |
Het |
| Hdlbp |
A |
T |
1: 93,345,233 (GRCm39) |
V714D |
probably damaging |
Het |
| Igkv4-80 |
A |
G |
6: 68,993,816 (GRCm39) |
V25A |
probably benign |
Het |
| Igkv8-27 |
C |
T |
6: 70,148,925 (GRCm39) |
W76* |
probably null |
Het |
| Ikzf1 |
T |
C |
11: 11,698,545 (GRCm39) |
L132P |
probably damaging |
Het |
| Kcna6 |
C |
A |
6: 126,715,443 (GRCm39) |
C482F |
possibly damaging |
Het |
| Lhx9 |
A |
T |
1: 138,769,580 (GRCm39) |
L47Q |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,304,347 (GRCm39) |
D175E |
probably damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,815 (GRCm39) |
K451E |
probably damaging |
Het |
| Mcm9 |
C |
T |
10: 53,417,653 (GRCm39) |
V17M |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,222,492 (GRCm39) |
S475R |
probably benign |
Het |
| Mmp24 |
C |
T |
2: 155,657,708 (GRCm39) |
R533C |
probably damaging |
Het |
| Moxd1 |
C |
T |
10: 24,158,650 (GRCm39) |
P435S |
probably damaging |
Het |
| Mta2 |
T |
A |
19: 8,927,670 (GRCm39) |
I497N |
probably benign |
Het |
| Mtus2 |
T |
C |
5: 148,014,473 (GRCm39) |
V422A |
probably benign |
Het |
| Ndufaf1 |
A |
T |
2: 119,486,907 (GRCm39) |
F260Y |
probably damaging |
Het |
| Nfasc |
C |
T |
1: 132,548,662 (GRCm39) |
|
probably null |
Het |
| Nid1 |
A |
T |
13: 13,683,305 (GRCm39) |
T1128S |
probably benign |
Het |
| Odad2 |
C |
T |
18: 7,129,461 (GRCm39) |
E906K |
probably damaging |
Het |
| Or51f1d |
A |
G |
7: 102,701,138 (GRCm39) |
D211G |
probably benign |
Het |
| Pcdh12 |
G |
A |
18: 38,414,746 (GRCm39) |
P793L |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,726,980 (GRCm39) |
|
probably benign |
Het |
| Prpf31 |
T |
A |
7: 3,637,185 (GRCm39) |
N161K |
possibly damaging |
Het |
| Prpf6 |
T |
G |
2: 181,290,878 (GRCm39) |
N656K |
probably benign |
Het |
| Rab19 |
A |
G |
6: 39,366,732 (GRCm39) |
T216A |
probably benign |
Het |
| Ryr3 |
A |
C |
2: 112,664,335 (GRCm39) |
L1652W |
probably damaging |
Het |
| Six2 |
A |
C |
17: 85,992,806 (GRCm39) |
S232R |
possibly damaging |
Het |
| Spag17 |
T |
C |
3: 99,934,707 (GRCm39) |
V663A |
probably benign |
Het |
| Spag5 |
A |
G |
11: 78,195,449 (GRCm39) |
N252S |
probably benign |
Het |
| Spata31e4 |
A |
T |
13: 50,857,113 (GRCm39) |
H917L |
probably damaging |
Het |
| Sptb |
C |
T |
12: 76,655,810 (GRCm39) |
|
probably null |
Het |
| Synj1 |
A |
G |
16: 90,758,253 (GRCm39) |
|
probably benign |
Het |
| Tekt2 |
T |
C |
4: 126,218,645 (GRCm39) |
H36R |
possibly damaging |
Het |
| Tjp1 |
A |
T |
7: 64,962,403 (GRCm39) |
M1258K |
probably damaging |
Het |
| Txnrd3 |
T |
C |
6: 89,651,777 (GRCm39) |
*502Q |
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 |
|
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