Incidental Mutation 'R1740:Ptprn'
| ID |
200248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprn
|
| Ensembl Gene |
ENSMUSG00000026204 |
| Gene Name |
protein tyrosine phosphatase receptor type N |
| Synonyms |
IA-2 |
| MMRRC Submission |
039772-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.606)
|
| Stock # |
R1740 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75223671-75241146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75238694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 82
(V82A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027404]
[ENSMUST00000185849]
[ENSMUST00000186178]
[ENSMUST00000189769]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027404
AA Change: V89A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
AA Change: V89A
| 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 damaging
Transcript: ENSMUST00000186178
AA Change: V53A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139925
Gene: ENSMUSG00000026204
AA Change: V53A
| 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 damaging
Transcript: ENSMUST00000189769
AA Change: V82A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140168
Gene: ENSMUSG00000026204
AA Change: V82A
| Domain | Start | End | E-Value | Type |
|---|
|
RESP18
|
56 |
157 |
1.5e-51 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191154
|
| Meta Mutation Damage Score |
0.0737 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 93.0%
|
| Validation Efficiency |
99% (69/70) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,549 (GRCm39) |
C417* |
probably null |
Het |
| 4930548G14Rik |
G |
A |
15: 46,488,885 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc12 |
T |
A |
8: 87,232,126 (GRCm39) |
K1311* |
probably null |
Het |
| Abcc12 |
T |
C |
8: 87,236,400 (GRCm39) |
D1138G |
possibly damaging |
Het |
| Adam32 |
A |
G |
8: 25,411,314 (GRCm39) |
S116P |
probably damaging |
Het |
| Arhgef26 |
C |
T |
3: 62,331,004 (GRCm39) |
L39F |
probably damaging |
Het |
| Babam1 |
T |
C |
8: 71,855,663 (GRCm39) |
I252T |
probably damaging |
Het |
| Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
| Ccdc61 |
G |
T |
7: 18,637,862 (GRCm39) |
|
probably benign |
Het |
| Ccdc89 |
C |
T |
7: 90,075,946 (GRCm39) |
S52F |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,144,133 (GRCm39) |
I320N |
possibly damaging |
Het |
| Cebpe |
T |
C |
14: 54,949,399 (GRCm39) |
Y6C |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,815,276 (GRCm39) |
I598N |
probably damaging |
Het |
| Cep350 |
T |
A |
1: 155,804,579 (GRCm39) |
I835F |
probably damaging |
Het |
| Ces3a |
T |
C |
8: 105,775,317 (GRCm39) |
L22P |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,873,558 (GRCm39) |
S490G |
probably benign |
Het |
| Cyp2j11 |
A |
G |
4: 96,207,613 (GRCm39) |
V234A |
probably benign |
Het |
| Dgat1 |
T |
C |
15: 76,386,929 (GRCm39) |
H399R |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,850,254 (GRCm39) |
|
probably null |
Het |
| Ebpl |
T |
G |
14: 61,578,656 (GRCm39) |
K193T |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,443,545 (GRCm39) |
N66S |
probably benign |
Het |
| Fcgbp |
G |
T |
7: 27,800,674 (GRCm39) |
G1240V |
possibly damaging |
Het |
| Gabra5 |
A |
G |
7: 57,071,590 (GRCm39) |
S209P |
probably benign |
Het |
| Glce |
A |
T |
9: 61,977,815 (GRCm39) |
V23D |
probably damaging |
Het |
| Gm14226 |
GACTGTTAC |
GAC |
2: 154,866,851 (GRCm39) |
|
probably benign |
Het |
| Gtf2h1 |
A |
G |
7: 46,461,890 (GRCm39) |
N296S |
probably null |
Het |
| Herc6 |
T |
C |
6: 57,629,050 (GRCm39) |
S654P |
probably benign |
Het |
| Kcnk3 |
A |
T |
5: 30,779,321 (GRCm39) |
M124L |
possibly damaging |
Het |
| Lamb2 |
T |
G |
9: 108,359,127 (GRCm39) |
V281G |
probably damaging |
Het |
| Lctl |
A |
T |
9: 64,040,389 (GRCm39) |
D444V |
probably damaging |
Het |
| Mcm2 |
A |
G |
6: 88,861,026 (GRCm39) |
F891L |
probably damaging |
Het |
| Mcub |
A |
T |
3: 129,712,376 (GRCm39) |
H166Q |
probably benign |
Het |
| Mical2 |
G |
T |
7: 111,933,043 (GRCm39) |
R739L |
probably benign |
Het |
| Mideas |
T |
C |
12: 84,219,676 (GRCm39) |
E426G |
probably damaging |
Het |
| Mkrn2 |
G |
T |
6: 115,590,330 (GRCm39) |
A229S |
probably damaging |
Het |
| Mmp7 |
A |
G |
9: 7,695,278 (GRCm39) |
Y80C |
possibly damaging |
Het |
| Mpp2 |
T |
C |
11: 101,953,222 (GRCm39) |
|
probably null |
Het |
| Msh6 |
C |
A |
17: 88,293,150 (GRCm39) |
T635K |
possibly damaging |
Het |
| Mvd |
T |
A |
8: 123,163,286 (GRCm39) |
T315S |
probably benign |
Het |
| Myocd |
C |
T |
11: 65,109,347 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
C |
T |
1: 135,386,127 (GRCm39) |
|
probably null |
Het |
| Or4k48 |
T |
A |
2: 111,476,214 (GRCm39) |
I43F |
probably damaging |
Het |
| Pde4b |
A |
T |
4: 102,344,548 (GRCm39) |
D141V |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,214,905 (GRCm39) |
D978V |
possibly damaging |
Het |
| Prss55 |
T |
C |
14: 64,313,129 (GRCm39) |
T252A |
probably damaging |
Het |
| Psd3 |
A |
T |
8: 68,573,491 (GRCm39) |
V230E |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
| Ptpru |
G |
T |
4: 131,520,989 (GRCm39) |
|
probably null |
Het |
| Raph1 |
T |
A |
1: 60,558,183 (GRCm39) |
K258* |
probably null |
Het |
| Rnf25 |
A |
G |
1: 74,637,886 (GRCm39) |
V28A |
probably damaging |
Het |
| Slc25a4 |
C |
T |
8: 46,661,540 (GRCm39) |
V212M |
probably benign |
Het |
| Slc39a3 |
T |
C |
10: 80,867,342 (GRCm39) |
S135G |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,356,097 (GRCm39) |
I220M |
probably damaging |
Het |
| Smim19 |
G |
T |
8: 22,963,544 (GRCm39) |
Y21* |
probably null |
Het |
| Speer4f1 |
A |
C |
5: 17,683,759 (GRCm39) |
Y141S |
probably damaging |
Het |
| Srgap2 |
G |
A |
1: 131,217,126 (GRCm39) |
P1062L |
probably benign |
Het |
| Stra8 |
A |
T |
6: 34,904,654 (GRCm39) |
|
probably benign |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tmem40 |
A |
G |
6: 115,715,960 (GRCm39) |
S76P |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,240,285 (GRCm39) |
R3569W |
probably damaging |
Het |
| Vmn1r128 |
A |
T |
7: 21,083,869 (GRCm39) |
Q191L |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,208,593 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTGTGCAACTCCAGAGAACCC -3'
(R):5'- GCCCTGGCATAGGATTCCAAAGAC -3'
Sequencing Primer
(F):5'- GATCCTATCATTGTGTTTATTTGCCC -3'
(R):5'- AGCACAACTCTAAAGCTAGAGG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation