Incidental Mutation 'R6217:Ptprn'
ID |
503758 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprn
|
Ensembl Gene |
ENSMUSG00000026204 |
Gene Name |
protein tyrosine phosphatase receptor type N |
Synonyms |
IA-2 |
MMRRC Submission |
044350-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.606)
|
Stock # |
R6217 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
75223671-75241146 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75224810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 912
(S912R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027404]
[ENSMUST00000055223]
[ENSMUST00000082158]
[ENSMUST00000185403]
[ENSMUST00000187058]
[ENSMUST00000188290]
[ENSMUST00000188346]
[ENSMUST00000188931]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027404
AA Change: S912R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027404 Gene: ENSMUSG00000026204 AA Change: S912R
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: ENSMUST00000055223
|
SMART Domains |
Protein: ENSMUSP00000052520 Gene: ENSMUSG00000026203
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
1.46e-29 |
SMART |
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
low complexity region
|
119 |
148 |
N/A |
INTRINSIC |
UIM
|
189 |
208 |
3.05e1 |
SMART |
UIM
|
232 |
251 |
5.19e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000082158
|
SMART Domains |
Protein: ENSMUSP00000080796 Gene: ENSMUSG00000026203
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
2.1e-30 |
SMART |
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
low complexity region
|
137 |
166 |
N/A |
INTRINSIC |
UIM
|
207 |
226 |
3.05e1 |
SMART |
UIM
|
250 |
269 |
5.19e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185403
|
SMART Domains |
Protein: ENSMUSP00000139982 Gene: ENSMUSG00000026203
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
2.8e-32 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187058
|
SMART Domains |
Protein: ENSMUSP00000140637 Gene: ENSMUSG00000026203
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
1.46e-29 |
SMART |
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
low complexity region
|
119 |
148 |
N/A |
INTRINSIC |
UIM
|
189 |
208 |
3.05e1 |
SMART |
UIM
|
232 |
251 |
5.19e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188290
|
SMART Domains |
Protein: ENSMUSP00000140634 Gene: ENSMUSG00000026203
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
2.1e-30 |
SMART |
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
low complexity region
|
137 |
166 |
N/A |
INTRINSIC |
UIM
|
207 |
226 |
3.05e1 |
SMART |
UIM
|
250 |
269 |
5.19e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188346
|
SMART Domains |
Protein: ENSMUSP00000140588 Gene: ENSMUSG00000026203
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
2.1e-30 |
SMART |
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
low complexity region
|
137 |
166 |
N/A |
INTRINSIC |
UIM
|
207 |
226 |
3.05e1 |
SMART |
UIM
|
250 |
269 |
5.19e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188931
|
SMART Domains |
Protein: ENSMUSP00000140566 Gene: ENSMUSG00000026203
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
2.1e-30 |
SMART |
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
low complexity region
|
137 |
166 |
N/A |
INTRINSIC |
UIM
|
207 |
226 |
3.05e1 |
SMART |
UIM
|
250 |
269 |
5.19e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190445
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191154
|
Meta Mutation Damage Score |
0.8910 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
97% (59/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
Adamts20 |
T |
C |
15: 94,236,596 (GRCm39) |
D808G |
probably benign |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Arsk |
T |
A |
13: 76,239,935 (GRCm39) |
Q46L |
unknown |
Het |
Asnsd1 |
A |
G |
1: 53,387,187 (GRCm39) |
F147L |
probably benign |
Het |
Atp5f1a |
T |
A |
18: 77,869,056 (GRCm39) |
S427T |
probably benign |
Het |
Atp6v1b2 |
A |
C |
8: 69,562,530 (GRCm39) |
|
probably null |
Het |
AU021092 |
T |
A |
16: 5,030,050 (GRCm39) |
T322S |
possibly damaging |
Het |
Bcl7c |
A |
T |
7: 127,307,698 (GRCm39) |
M1K |
probably null |
Het |
Cacna1i |
T |
C |
15: 80,273,333 (GRCm39) |
V1673A |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,522,900 (GRCm39) |
|
probably null |
Het |
Cdc7 |
A |
G |
5: 107,120,660 (GRCm39) |
D122G |
probably damaging |
Het |
Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
Chd3 |
T |
A |
11: 69,236,361 (GRCm39) |
Q1950L |
probably damaging |
Het |
Cutc |
T |
C |
19: 43,748,436 (GRCm39) |
L111S |
probably damaging |
Het |
Cyp2j6 |
A |
G |
4: 96,406,398 (GRCm39) |
F458L |
probably damaging |
Het |
Ddhd1 |
T |
C |
14: 45,856,971 (GRCm39) |
|
probably null |
Het |
Dstyk |
T |
C |
1: 132,387,677 (GRCm39) |
S804P |
probably damaging |
Het |
Ech1 |
A |
G |
7: 28,531,261 (GRCm39) |
D283G |
possibly damaging |
Het |
Exosc10 |
A |
G |
4: 148,666,768 (GRCm39) |
|
probably null |
Het |
Fancg |
A |
C |
4: 43,010,084 (GRCm39) |
V5G |
probably benign |
Het |
Fbxo11 |
A |
G |
17: 88,316,332 (GRCm39) |
V394A |
probably benign |
Het |
Fcmr |
C |
T |
1: 130,806,060 (GRCm39) |
R339W |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,829,198 (GRCm39) |
|
probably null |
Het |
Fsip2 |
T |
A |
2: 82,818,762 (GRCm39) |
L4832M |
possibly damaging |
Het |
Gab1 |
A |
G |
8: 81,518,237 (GRCm39) |
V125A |
possibly damaging |
Het |
Gabrr1 |
A |
T |
4: 33,149,026 (GRCm39) |
|
probably null |
Het |
Gon4l |
T |
C |
3: 88,799,968 (GRCm39) |
V871A |
possibly damaging |
Het |
Hspg2 |
A |
G |
4: 137,267,559 (GRCm39) |
T2056A |
probably damaging |
Het |
Lrrc3 |
T |
A |
10: 77,736,843 (GRCm39) |
T198S |
probably benign |
Het |
Lsamp |
A |
T |
16: 41,954,675 (GRCm39) |
E174V |
possibly damaging |
Het |
Ltbr |
C |
T |
6: 125,284,417 (GRCm39) |
V342M |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,566,742 (GRCm39) |
S1926T |
unknown |
Het |
Ntn1 |
C |
A |
11: 68,104,158 (GRCm39) |
V497F |
possibly damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,279 (GRCm39) |
L130Q |
probably damaging |
Het |
Or5k17 |
T |
C |
16: 58,746,877 (GRCm39) |
D19G |
probably benign |
Het |
Or8g22 |
A |
T |
9: 38,958,039 (GRCm39) |
*270R |
probably null |
Het |
Osmr |
T |
C |
15: 6,853,047 (GRCm39) |
Y615C |
probably damaging |
Het |
Pcdhgb2 |
T |
C |
18: 37,823,054 (GRCm39) |
V15A |
possibly damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,547,733 (GRCm39) |
N162S |
probably benign |
Het |
Ppp1r12a |
G |
A |
10: 108,076,045 (GRCm39) |
|
probably null |
Het |
Prss59 |
G |
A |
6: 40,903,019 (GRCm39) |
P118S |
possibly damaging |
Het |
Prtg |
C |
T |
9: 72,812,076 (GRCm39) |
P899S |
probably damaging |
Het |
Rex2 |
A |
G |
4: 147,141,931 (GRCm39) |
T140A |
possibly damaging |
Het |
Ryr2 |
T |
G |
13: 11,848,964 (GRCm39) |
D339A |
probably damaging |
Het |
Sf3b1 |
C |
T |
1: 55,046,677 (GRCm39) |
R289H |
probably damaging |
Het |
Slc17a9 |
A |
G |
2: 180,379,455 (GRCm39) |
D309G |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 62,134,295 (GRCm39) |
R1004G |
probably benign |
Het |
Sprr2f |
A |
T |
3: 92,273,366 (GRCm39) |
Q55L |
unknown |
Het |
Syne1 |
C |
T |
10: 5,243,761 (GRCm39) |
G2801D |
probably benign |
Het |
Tenm3 |
A |
T |
8: 48,746,700 (GRCm39) |
V1026D |
probably damaging |
Het |
Ticam1 |
A |
T |
17: 56,577,730 (GRCm39) |
I455N |
probably damaging |
Het |
Tmem161b |
A |
G |
13: 84,399,363 (GRCm39) |
I6M |
possibly damaging |
Het |
Ubn1 |
A |
G |
16: 4,895,096 (GRCm39) |
E714G |
probably damaging |
Het |
Ush2a |
T |
G |
1: 188,475,651 (GRCm39) |
|
probably null |
Het |
Usp19 |
G |
A |
9: 108,377,343 (GRCm39) |
V874M |
probably damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,488,501 (GRCm39) |
T633A |
probably benign |
Het |
Vmn2r75 |
A |
T |
7: 85,815,375 (GRCm39) |
|
probably benign |
Het |
Zfyve27 |
T |
C |
19: 42,178,016 (GRCm39) |
V386A |
probably damaging |
Het |
Zscan20 |
A |
T |
4: 128,498,327 (GRCm39) |
W24R |
probably damaging |
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 |
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 |
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'- TCCTTCACTCCTGGGGAATAGG -3'
(R):5'- GCCATGGCTGTCCTTTCTAG -3'
Sequencing Primer
(F):5'- TGCTTAAGGGGGCATCCAG -3'
(R):5'- AGTTGTCCCCCTGCCTGG -3'
|
Posted On |
2018-02-27 |