Incidental Mutation 'R7777:Ptprn'
| ID |
598931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprn
|
| Ensembl Gene |
ENSMUSG00000026204 |
| Gene Name |
protein tyrosine phosphatase receptor type N |
| Synonyms |
IA-2 |
| MMRRC Submission |
045833-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.606)
|
| Stock # |
R7777 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75223671-75241146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75228946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 823
(D823G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027404]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027404
AA Change: D823G
PolyPhen 2
Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
AA Change: D823G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (47/47) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
C |
T |
12: 113,453,758 (GRCm39) |
P192S |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,995,373 (GRCm39) |
T353A |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,877,828 (GRCm39) |
D55G |
probably damaging |
Het |
| Dcaf4 |
T |
C |
12: 83,584,733 (GRCm39) |
V322A |
probably damaging |
Het |
| Ephb2 |
T |
A |
4: 136,498,947 (GRCm39) |
E44V |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,328,573 (GRCm39) |
I105V |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,900,763 (GRCm39) |
D2994G |
probably damaging |
Het |
| Fryl |
C |
T |
5: 73,228,641 (GRCm39) |
D1697N |
probably damaging |
Het |
| Gapdh |
A |
T |
6: 125,139,911 (GRCm39) |
Y164* |
probably null |
Het |
| Gm4353 |
T |
G |
7: 115,682,998 (GRCm39) |
Q194H |
possibly damaging |
Het |
| Ilvbl |
T |
A |
10: 78,413,085 (GRCm39) |
|
probably null |
Het |
| Ism2 |
T |
A |
12: 87,333,658 (GRCm39) |
|
probably null |
Het |
| Jak2 |
C |
T |
19: 29,254,268 (GRCm39) |
T196I |
probably benign |
Het |
| Lcor |
T |
G |
19: 41,547,234 (GRCm39) |
Y273D |
probably benign |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Lysmd4 |
T |
A |
7: 66,873,446 (GRCm39) |
M27K |
possibly damaging |
Het |
| Muc17 |
G |
A |
5: 137,175,564 (GRCm39) |
|
silent |
Het |
| Or11h4b |
A |
T |
14: 50,918,261 (GRCm39) |
Y277N |
probably damaging |
Het |
| Or13a25 |
T |
A |
7: 140,247,854 (GRCm39) |
I211N |
probably benign |
Het |
| Or5m10 |
A |
G |
2: 85,717,951 (GRCm39) |
E269G |
possibly damaging |
Het |
| Oscp1 |
T |
C |
4: 125,958,774 (GRCm39) |
|
probably null |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Pkd2l2 |
C |
A |
18: 34,549,913 (GRCm39) |
P186Q |
probably damaging |
Het |
| Plcb1 |
G |
A |
2: 135,062,677 (GRCm39) |
G96R |
possibly damaging |
Het |
| Plcd3 |
G |
C |
11: 102,965,481 (GRCm39) |
R535G |
probably benign |
Het |
| Plcg1 |
A |
G |
2: 160,596,523 (GRCm39) |
M681V |
possibly damaging |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,575,022 (GRCm39) |
D836E |
probably benign |
Het |
| Pramel12 |
T |
C |
4: 143,144,331 (GRCm39) |
Y226H |
possibly damaging |
Het |
| Prkag1 |
A |
T |
15: 98,712,478 (GRCm39) |
I149N |
probably damaging |
Het |
| Prkci |
A |
T |
3: 31,104,362 (GRCm39) |
Q575L |
possibly damaging |
Het |
| Prss40 |
C |
T |
1: 34,591,846 (GRCm39) |
W276* |
probably null |
Het |
| Radil |
A |
C |
5: 142,529,303 (GRCm39) |
F131C |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 52,006,368 (GRCm39) |
I550V |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,361,713 (GRCm39) |
E320G |
probably damaging |
Het |
| Sec31b |
T |
A |
19: 44,512,212 (GRCm39) |
K561* |
probably null |
Het |
| Spata31g1 |
C |
T |
4: 42,970,171 (GRCm39) |
Q53* |
probably null |
Het |
| Spata31g1 |
T |
C |
4: 42,971,095 (GRCm39) |
S143P |
probably benign |
Het |
| Tbx5 |
A |
C |
5: 120,021,232 (GRCm39) |
T413P |
probably benign |
Het |
| Tmprss7 |
A |
G |
16: 45,480,963 (GRCm39) |
|
probably null |
Het |
| Tnfaip8l2 |
T |
C |
3: 95,047,307 (GRCm39) |
*185W |
probably null |
Het |
| Tpst2 |
A |
G |
5: 112,457,560 (GRCm39) |
E296G |
possibly damaging |
Het |
| Ubn2 |
T |
A |
6: 38,467,688 (GRCm39) |
S801T |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,332,638 (GRCm39) |
S1141G |
|
Het |
| Uts2r |
A |
G |
11: 121,052,279 (GRCm39) |
N381S |
probably benign |
Het |
| Vmn2r44 |
G |
T |
7: 8,381,314 (GRCm39) |
T193K |
possibly damaging |
Het |
| Wdr18 |
T |
A |
10: 79,801,884 (GRCm39) |
M223K |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,617,564 (GRCm39) |
C715R |
possibly damaging |
Het |
| Zfp672 |
A |
G |
11: 58,208,081 (GRCm39) |
F80S |
possibly 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 |
|
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 |
|
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'- GCTCAGAGTCCCTACAAATGC -3'
(R):5'- CCTTAGATCGAGCATGACCC -3'
Sequencing Primer
(F):5'- CAAATGCTTTTTGGTGCTAGACAG -3'
(R):5'- ACACCATCGCGGACTTCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation