Incidental Mutation 'R8941:Ptprn'
| ID |
680959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprn
|
| Ensembl Gene |
ENSMUSG00000026204 |
| Gene Name |
protein tyrosine phosphatase receptor type N |
| Synonyms |
IA-2 |
| MMRRC Submission |
068781-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.606)
|
| Stock # |
R8941 (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 75228407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 890
(L890Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027404]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027404
AA Change: L890Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
AA Change: L890Q
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,056,679 (GRCm39) |
T103S |
probably benign |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,784,400 (GRCm39) |
Y291C |
probably damaging |
Het |
| Aass |
A |
T |
6: 23,075,261 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,133,235 (GRCm39) |
C1284S |
probably damaging |
Het |
| Adora2a |
G |
A |
10: 75,169,559 (GRCm39) |
W341* |
probably null |
Het |
| Afg2a |
T |
A |
3: 37,486,142 (GRCm39) |
L288H |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,057,324 (GRCm39) |
R1355Q |
possibly damaging |
Het |
| Asic5 |
A |
T |
3: 81,913,915 (GRCm39) |
|
probably benign |
Het |
| Canx |
T |
C |
11: 50,195,270 (GRCm39) |
D266G |
possibly damaging |
Het |
| Cfap57 |
A |
T |
4: 118,426,799 (GRCm39) |
Y1080N |
probably damaging |
Het |
| Chat |
C |
T |
14: 32,130,963 (GRCm39) |
M559I |
probably benign |
Het |
| Chd5 |
G |
A |
4: 152,463,305 (GRCm39) |
S1425N |
possibly damaging |
Het |
| Cog8 |
T |
C |
8: 107,783,202 (GRCm39) |
D29G |
probably damaging |
Het |
| Cox15 |
A |
G |
19: 43,732,172 (GRCm39) |
S215P |
probably benign |
Het |
| Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,339,698 (GRCm39) |
V362A |
probably damaging |
Het |
| Dio1 |
C |
A |
4: 107,164,147 (GRCm39) |
A57S |
probably benign |
Het |
| F5 |
C |
A |
1: 164,026,440 (GRCm39) |
H1671N |
probably benign |
Het |
| Gm6309 |
A |
G |
5: 146,107,155 (GRCm39) |
Y64H |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,660,743 (GRCm39) |
C731R |
probably damaging |
Het |
| Hmgcl |
G |
A |
4: 135,683,015 (GRCm39) |
A156T |
probably damaging |
Het |
| Il15ra |
A |
T |
2: 11,737,995 (GRCm39) |
T210S |
possibly damaging |
Het |
| Kat8 |
T |
C |
7: 127,524,400 (GRCm39) |
L426P |
probably damaging |
Het |
| Lrrc39 |
G |
T |
3: 116,359,496 (GRCm39) |
V14L |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,869,593 (GRCm39) |
M709V |
probably benign |
Het |
| Mdm4 |
T |
C |
1: 132,919,671 (GRCm39) |
H398R |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,991,606 (GRCm39) |
Q1568L |
possibly damaging |
Het |
| Myo18b |
G |
A |
5: 113,022,795 (GRCm39) |
|
probably benign |
Het |
| Nr4a3 |
C |
A |
4: 48,051,756 (GRCm39) |
P170Q |
possibly damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,208,109 (GRCm39) |
M652V |
probably damaging |
Het |
| Or10n7-ps1 |
A |
T |
9: 39,597,812 (GRCm39) |
*143K |
probably null |
Het |
| Or5b95 |
G |
A |
19: 12,657,471 (GRCm39) |
|
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,832,815 (GRCm39) |
I325V |
possibly damaging |
Het |
| Pcare |
T |
C |
17: 72,059,137 (GRCm39) |
H180R |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,114,807 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,380 (GRCm39) |
S421P |
probably damaging |
Het |
| Pou6f1 |
T |
A |
15: 100,489,742 (GRCm39) |
D74V |
probably damaging |
Het |
| Prpsap2 |
C |
A |
11: 61,627,870 (GRCm39) |
R202L |
probably damaging |
Het |
| Ramp1 |
C |
G |
1: 91,134,137 (GRCm39) |
P97A |
probably benign |
Het |
| Rapgefl1 |
A |
G |
11: 98,731,101 (GRCm39) |
D179G |
probably damaging |
Het |
| Rbp3 |
T |
A |
14: 33,678,486 (GRCm39) |
F811L |
possibly damaging |
Het |
| Rnf213 |
C |
A |
11: 119,305,250 (GRCm39) |
L494M |
probably damaging |
Het |
| Rpl4 |
A |
G |
9: 64,082,245 (GRCm39) |
N48S |
probably benign |
Het |
| Rsbn1l |
A |
G |
5: 21,110,841 (GRCm39) |
V499A |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,430,022 (GRCm39) |
T691A |
probably benign |
Het |
| Sass6 |
T |
C |
3: 116,407,709 (GRCm39) |
V275A |
probably benign |
Het |
| Sdcbp |
T |
C |
4: 6,393,661 (GRCm39) |
S259P |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,206 (GRCm39) |
F296L |
probably benign |
Het |
| Slc12a4 |
C |
T |
8: 106,673,322 (GRCm39) |
|
probably null |
Het |
| Snrk |
G |
A |
9: 121,989,597 (GRCm39) |
V314I |
probably benign |
Het |
| Tas1r3 |
C |
T |
4: 155,947,600 (GRCm39) |
|
probably null |
Het |
| Tle3 |
T |
A |
9: 61,320,195 (GRCm39) |
V560E |
probably damaging |
Het |
| Trdmt1 |
A |
G |
2: 13,526,918 (GRCm39) |
Y144H |
probably benign |
Het |
| Trim42 |
T |
C |
9: 97,245,100 (GRCm39) |
T567A |
probably benign |
Het |
| Tsbp1 |
A |
C |
17: 34,678,973 (GRCm39) |
R228S |
possibly damaging |
Het |
| Tuba4a |
T |
C |
1: 75,193,945 (GRCm39) |
D74G |
probably benign |
Het |
| Ube3c |
G |
A |
5: 29,842,769 (GRCm39) |
|
probably null |
Het |
| Vwa3a |
A |
G |
7: 120,375,311 (GRCm39) |
D375G |
probably benign |
Het |
| Zfp729b |
A |
G |
13: 67,741,218 (GRCm39) |
M349T |
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 |
|
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 |
|
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'- TCCAGGCCAGCTAAGGAG -3'
(R):5'- CAGACCGTGCCCGATATCTG -3'
Sequencing Primer
(F):5'- GCCAGATGGTGAAATGGCG -3'
(R):5'- TGCCCGATATCTGACAGGTGAAC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation