Incidental Mutation 'R1927:Ptprn'
| ID |
214919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprn
|
| Ensembl Gene |
ENSMUSG00000026204 |
| Gene Name |
protein tyrosine phosphatase receptor type N |
| Synonyms |
IA-2 |
| MMRRC Submission |
039945-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.606)
|
| Stock # |
R1927 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75223671-75241146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75230766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 565
(V565A)
|
| 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: V565A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
AA Change: V565A
| 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 |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,613,338 (GRCm39) |
S31P |
probably damaging |
Het |
| Abca12 |
G |
T |
1: 71,283,999 (GRCm39) |
H2524Q |
probably damaging |
Het |
| Acsl5 |
T |
C |
19: 55,266,586 (GRCm39) |
V135A |
probably benign |
Het |
| Actl11 |
T |
G |
9: 107,806,736 (GRCm39) |
L353R |
possibly damaging |
Het |
| Adcy6 |
G |
T |
15: 98,496,379 (GRCm39) |
|
probably null |
Het |
| B230104I21Rik |
A |
G |
4: 154,425,694 (GRCm39) |
I697T |
probably damaging |
Het |
| BC061237 |
G |
A |
14: 44,738,700 (GRCm39) |
R33K |
possibly damaging |
Het |
| Brf1 |
C |
A |
12: 112,963,964 (GRCm39) |
V5F |
possibly damaging |
Het |
| Chmp2a |
C |
T |
7: 12,767,863 (GRCm39) |
A21T |
possibly damaging |
Het |
| Cwh43 |
A |
G |
5: 73,610,417 (GRCm39) |
N607S |
probably benign |
Het |
| Ddhd2 |
G |
A |
8: 26,231,688 (GRCm39) |
L445F |
possibly damaging |
Het |
| Dicer1 |
C |
A |
12: 104,669,143 (GRCm39) |
D1180Y |
possibly damaging |
Het |
| Dnaaf4 |
A |
T |
9: 72,867,909 (GRCm39) |
I57L |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,083,511 (GRCm39) |
S133T |
possibly damaging |
Het |
| Efs |
A |
T |
14: 55,154,620 (GRCm39) |
C540S |
possibly damaging |
Het |
| Ehd4 |
C |
T |
2: 119,921,973 (GRCm39) |
G428S |
probably benign |
Het |
| Eml1 |
C |
T |
12: 108,504,476 (GRCm39) |
R812* |
probably null |
Het |
| Enpp1 |
C |
T |
10: 24,530,786 (GRCm39) |
D557N |
possibly damaging |
Het |
| Fn3krp |
A |
G |
11: 121,315,803 (GRCm39) |
T65A |
probably damaging |
Het |
| Galnt5 |
A |
G |
2: 57,888,615 (GRCm39) |
R72G |
probably benign |
Het |
| Gfod1 |
C |
T |
13: 43,354,336 (GRCm39) |
R213H |
possibly damaging |
Het |
| Gm10518 |
A |
G |
1: 179,631,210 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
A |
G |
11: 48,780,082 (GRCm39) |
F558S |
probably damaging |
Het |
| Got1 |
C |
T |
19: 43,504,119 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
C |
T |
19: 55,226,191 (GRCm39) |
V242I |
probably benign |
Het |
| Hdgfl2 |
T |
A |
17: 56,406,874 (GRCm39) |
V606E |
possibly damaging |
Het |
| Hoxa3 |
T |
C |
6: 52,146,979 (GRCm39) |
|
probably benign |
Het |
| Iqub |
T |
A |
6: 24,491,670 (GRCm39) |
I339L |
probably benign |
Het |
| Kdm4c |
C |
T |
4: 74,263,720 (GRCm39) |
T668I |
probably benign |
Het |
| Klhl32 |
T |
C |
4: 24,617,474 (GRCm39) |
I592V |
probably benign |
Het |
| Mfsd12 |
G |
T |
10: 81,197,921 (GRCm39) |
M296I |
probably benign |
Het |
| Mfsd4b4 |
C |
T |
10: 39,768,437 (GRCm39) |
A219T |
probably damaging |
Het |
| Mrpl52 |
T |
C |
14: 54,664,414 (GRCm39) |
S9P |
possibly damaging |
Het |
| Nbr1 |
A |
G |
11: 101,458,040 (GRCm39) |
Y273C |
possibly damaging |
Het |
| Ncf4 |
G |
T |
15: 78,144,846 (GRCm39) |
G217V |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,897,668 (GRCm39) |
E96G |
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,818,344 (GRCm39) |
N279K |
probably damaging |
Het |
| Nr5a2 |
A |
G |
1: 136,872,732 (GRCm39) |
Y56H |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,101,049 (GRCm39) |
T280A |
probably benign |
Het |
| Or1o2 |
A |
G |
17: 37,542,434 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or2b28 |
T |
A |
13: 21,531,116 (GRCm39) |
I6N |
probably benign |
Het |
| Or2w2 |
A |
G |
13: 21,758,426 (GRCm39) |
F67L |
probably benign |
Het |
| Or55b10 |
A |
G |
7: 102,143,266 (GRCm39) |
S239P |
possibly damaging |
Het |
| Or5b109 |
T |
C |
19: 13,212,393 (GRCm39) |
Y260H |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,895,707 (GRCm39) |
C107Y |
probably damaging |
Het |
| Rbm6 |
T |
G |
9: 107,730,102 (GRCm39) |
D182A |
probably damaging |
Het |
| Rhbg |
A |
G |
3: 88,151,859 (GRCm39) |
F400L |
probably benign |
Het |
| Rpl22l1 |
T |
A |
3: 28,860,738 (GRCm39) |
N33K |
possibly damaging |
Het |
| Rtp1 |
T |
A |
16: 23,249,959 (GRCm39) |
I108N |
probably damaging |
Het |
| Sema6b |
A |
T |
17: 56,439,797 (GRCm39) |
F15I |
probably benign |
Het |
| Sirpa |
C |
T |
2: 129,458,296 (GRCm39) |
T304I |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,184,430 (GRCm39) |
I257T |
probably benign |
Het |
| Slc41a1 |
T |
C |
1: 131,768,938 (GRCm39) |
I256T |
probably damaging |
Het |
| Smg6 |
A |
G |
11: 75,033,674 (GRCm39) |
K1208R |
probably damaging |
Het |
| Sorcs1 |
G |
T |
19: 50,210,633 (GRCm39) |
P744Q |
probably damaging |
Het |
| Sptbn5 |
T |
C |
2: 119,900,943 (GRCm39) |
T213A |
probably benign |
Het |
| St18 |
A |
G |
1: 6,872,936 (GRCm39) |
T224A |
probably benign |
Het |
| Stat3 |
T |
C |
11: 100,785,655 (GRCm39) |
N465S |
probably damaging |
Het |
| Stmn2 |
T |
A |
3: 8,610,636 (GRCm39) |
M40K |
probably benign |
Het |
| Tespa1 |
A |
G |
10: 130,184,108 (GRCm39) |
D63G |
probably benign |
Het |
| Thrb |
T |
A |
14: 18,008,674 (GRCm38) |
C133S |
probably damaging |
Het |
| Tmem25 |
C |
T |
9: 44,707,780 (GRCm39) |
V172M |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,636,754 (GRCm39) |
Y151F |
probably damaging |
Het |
| Trp53bp2 |
A |
G |
1: 182,280,229 (GRCm39) |
T912A |
probably damaging |
Het |
| Unc79 |
C |
A |
12: 103,135,951 (GRCm39) |
A2269E |
probably damaging |
Het |
| Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
probably damaging |
Het |
| Zfp758 |
T |
G |
17: 22,594,823 (GRCm39) |
S436R |
probably damaging |
Het |
| Zfp791 |
G |
T |
8: 85,837,312 (GRCm39) |
T184K |
probably benign |
Het |
| Znrf3 |
A |
G |
11: 5,231,062 (GRCm39) |
V817A |
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 |
|
|
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 |
|
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'- TAGGTCCTTCCCTCCATGAG -3'
(R):5'- CATTGTGGATTTGGAAGGAAGC -3'
Sequencing Primer
(F):5'- CTGGTACTCAAAAGTAGTGTCACC -3'
(R):5'- AAGGAAGCTGTATGCCCTTC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation