Incidental Mutation 'R1534:Ptprn'
| ID |
166801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprn
|
| Ensembl Gene |
ENSMUSG00000026204 |
| Gene Name |
protein tyrosine phosphatase receptor type N |
| Synonyms |
IA-2 |
| MMRRC Submission |
039573-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.624)
|
| Stock # |
R1534 (G1)
|
| Quality Score |
225 |
|
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 C
at 75234587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027404]
[ENSMUST00000027404]
[ENSMUST00000185849]
[ENSMUST00000186178]
[ENSMUST00000189769]
|
| 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 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: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
98% (52/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,345,881 (GRCm39) |
I310T |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,073,629 (GRCm39) |
V469A |
possibly damaging |
Het |
| Agrn |
C |
T |
4: 156,261,141 (GRCm39) |
C652Y |
probably damaging |
Het |
| Ankfn1 |
C |
T |
11: 89,413,977 (GRCm39) |
V133M |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,706,757 (GRCm39) |
T448A |
probably benign |
Het |
| Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
| B4galt2 |
T |
C |
4: 117,734,669 (GRCm39) |
H233R |
probably damaging |
Het |
| Bpifb5 |
T |
G |
2: 154,071,419 (GRCm39) |
Y249D |
possibly damaging |
Het |
| Brd1 |
T |
C |
15: 88,573,866 (GRCm39) |
I1078V |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,726,083 (GRCm39) |
E3104G |
probably damaging |
Het |
| Cyp2c69 |
T |
A |
19: 39,839,593 (GRCm39) |
K343N |
probably benign |
Het |
| Cyp4f18 |
T |
A |
8: 72,746,799 (GRCm39) |
D331V |
probably damaging |
Het |
| D130040H23Rik |
T |
C |
8: 69,755,378 (GRCm39) |
V261A |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,421,247 (GRCm39) |
D391G |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 38,944,238 (GRCm39) |
F1044L |
probably damaging |
Het |
| Frrs1 |
A |
T |
3: 116,672,057 (GRCm39) |
T52S |
probably benign |
Het |
| Gan |
G |
A |
8: 117,914,168 (GRCm39) |
V189I |
probably benign |
Het |
| Hnf1b |
A |
G |
11: 83,784,409 (GRCm39) |
|
probably benign |
Het |
| Itgae |
T |
C |
11: 73,036,431 (GRCm39) |
I1123T |
possibly damaging |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Lrrc18 |
A |
G |
14: 32,730,478 (GRCm39) |
K6E |
possibly damaging |
Het |
| Map2 |
G |
A |
1: 66,452,339 (GRCm39) |
V492I |
probably benign |
Het |
| Mtr |
A |
T |
13: 12,250,430 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
G |
T |
11: 62,269,330 (GRCm39) |
A689E |
possibly damaging |
Het |
| Or52n2c |
G |
A |
7: 104,574,621 (GRCm39) |
L117F |
possibly damaging |
Het |
| Or5w22 |
T |
A |
2: 87,363,016 (GRCm39) |
V213D |
probably damaging |
Het |
| Palm |
T |
G |
10: 79,652,737 (GRCm39) |
V42G |
probably damaging |
Het |
| Pcm1 |
G |
A |
8: 41,740,738 (GRCm39) |
V995I |
probably benign |
Het |
| Pfkp |
A |
G |
13: 6,669,574 (GRCm39) |
V215A |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,142,420 (GRCm39) |
Y238C |
probably damaging |
Het |
| Prr14 |
C |
T |
7: 127,073,154 (GRCm39) |
A167V |
probably benign |
Het |
| Rexo2 |
A |
T |
9: 48,380,190 (GRCm39) |
I214N |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,830,233 (GRCm39) |
S645P |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Satb2 |
A |
T |
1: 56,987,392 (GRCm39) |
C64* |
probably null |
Het |
| Sez6 |
A |
G |
11: 77,853,871 (GRCm39) |
Y347C |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,663,729 (GRCm39) |
I585T |
probably damaging |
Het |
| Spg11 |
G |
A |
2: 121,922,806 (GRCm39) |
T881M |
probably damaging |
Het |
| Tiam1 |
A |
T |
16: 89,664,396 (GRCm39) |
|
probably null |
Het |
| Tlcd5 |
A |
G |
9: 43,022,923 (GRCm39) |
W126R |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,556,152 (GRCm39) |
I537T |
probably damaging |
Het |
| Trappc6a |
A |
G |
7: 19,248,138 (GRCm39) |
S33G |
probably benign |
Het |
| Tspan11 |
G |
C |
6: 127,926,768 (GRCm39) |
V239L |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,155,462 (GRCm39) |
V2190A |
possibly damaging |
Het |
| Usp28 |
A |
G |
9: 48,896,806 (GRCm39) |
D9G |
possibly damaging |
Het |
| Uty |
A |
G |
Y: 1,245,440 (GRCm39) |
V35A |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,427,954 (GRCm39) |
S771P |
probably benign |
Het |
| Wars2 |
C |
T |
3: 99,124,177 (GRCm39) |
A346V |
probably damaging |
Het |
| Wdr87-ps |
G |
T |
7: 29,229,854 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp142 |
G |
T |
1: 74,611,247 (GRCm39) |
N849K |
probably benign |
Het |
| Zfp180 |
A |
T |
7: 23,800,948 (GRCm39) |
N66I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACACGGATGCTCATTCCCAAAC -3'
(R):5'- CAACTTTTCCAAGATTCAGGGCTGC -3'
Sequencing Primer
(F):5'- gtcctgcctgagctaaaaatg -3'
(R):5'- AAGATTCAGGGCTGCTCTAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation