Incidental Mutation 'IGL00488:Ptpn18'
ID |
13214 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ptpn18
|
Ensembl Gene |
ENSMUSG00000026126 |
Gene Name |
protein tyrosine phosphatase, non-receptor type 18 |
Synonyms |
Ptpk1, PTP-HSCF, FLP1, HSCF, PTP-K1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
IGL00488
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
34498843-34514814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 34502200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Lysine
at position 72
(R72K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027302
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027302]
[ENSMUST00000190122]
|
AlphaFold |
Q61152 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027302
AA Change: R72K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000027302 Gene: ENSMUSG00000026126 AA Change: R72K
Domain | Start | End | E-Value | Type |
PTPc
|
25 |
293 |
7.77e-115 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185610
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186252
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188884
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190122
AA Change: R48K
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139885 Gene: ENSMUSG00000026126 AA Change: R48K
Domain | Start | End | E-Value | Type |
PTPc
|
2 |
269 |
9.1e-113 |
SMART |
|
Coding Region Coverage |
|
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, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
A |
3: 151,248,478 (GRCm39) |
S717T |
probably damaging |
Het |
Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
Cchcr1 |
A |
G |
17: 35,839,469 (GRCm39) |
D585G |
possibly damaging |
Het |
Dnah6 |
A |
T |
6: 73,063,190 (GRCm39) |
N2637K |
possibly damaging |
Het |
Erg |
C |
A |
16: 95,170,848 (GRCm39) |
|
probably benign |
Het |
Mak |
C |
T |
13: 41,209,165 (GRCm39) |
|
probably benign |
Het |
Max |
T |
C |
12: 76,985,404 (GRCm39) |
S132G |
probably damaging |
Het |
Nfam1 |
T |
C |
15: 82,907,185 (GRCm39) |
Y4C |
probably benign |
Het |
Orc5 |
G |
T |
5: 22,721,771 (GRCm39) |
D360E |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,593,711 (GRCm39) |
|
probably null |
Het |
R3hcc1l |
A |
G |
19: 42,552,391 (GRCm39) |
I463V |
probably benign |
Het |
Rapgef2 |
T |
C |
3: 78,999,332 (GRCm39) |
E480G |
possibly damaging |
Het |
Rictor |
T |
A |
15: 6,816,071 (GRCm39) |
D1114E |
probably damaging |
Het |
Sestd1 |
A |
G |
2: 77,042,796 (GRCm39) |
S253P |
possibly damaging |
Het |
Slk |
C |
T |
19: 47,608,148 (GRCm39) |
T367I |
probably benign |
Het |
Tasl |
T |
A |
X: 84,931,985 (GRCm39) |
Y184N |
possibly damaging |
Het |
Tcirg1 |
T |
G |
19: 3,949,108 (GRCm39) |
I394L |
possibly damaging |
Het |
Ubn1 |
T |
C |
16: 4,899,778 (GRCm39) |
S1097P |
probably benign |
Het |
Ugt2b34 |
T |
A |
5: 87,040,818 (GRCm39) |
H368L |
probably damaging |
Het |
Wdr20rt |
T |
C |
12: 65,272,744 (GRCm39) |
V69A |
possibly damaging |
Het |
Wnt16 |
T |
C |
6: 22,291,012 (GRCm39) |
S147P |
probably damaging |
Het |
|
Other mutations in Ptpn18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01611:Ptpn18
|
APN |
1 |
34,498,898 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL01633:Ptpn18
|
APN |
1 |
34,510,989 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03379:Ptpn18
|
APN |
1 |
34,509,338 (GRCm39) |
splice site |
probably null |
|
R0848:Ptpn18
|
UTSW |
1 |
34,501,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R1400:Ptpn18
|
UTSW |
1 |
34,502,587 (GRCm39) |
critical splice donor site |
probably null |
|
R1973:Ptpn18
|
UTSW |
1 |
34,502,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R2040:Ptpn18
|
UTSW |
1 |
34,509,300 (GRCm39) |
missense |
probably damaging |
0.99 |
R2113:Ptpn18
|
UTSW |
1 |
34,510,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R2963:Ptpn18
|
UTSW |
1 |
34,510,773 (GRCm39) |
nonsense |
probably null |
|
R4061:Ptpn18
|
UTSW |
1 |
34,512,011 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4062:Ptpn18
|
UTSW |
1 |
34,512,011 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4509:Ptpn18
|
UTSW |
1 |
34,501,823 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4522:Ptpn18
|
UTSW |
1 |
34,512,041 (GRCm39) |
missense |
probably benign |
|
R4626:Ptpn18
|
UTSW |
1 |
34,510,873 (GRCm39) |
splice site |
probably null |
|
R4978:Ptpn18
|
UTSW |
1 |
34,508,894 (GRCm39) |
intron |
probably benign |
|
R5260:Ptpn18
|
UTSW |
1 |
34,502,591 (GRCm39) |
splice site |
probably benign |
|
R5335:Ptpn18
|
UTSW |
1 |
34,502,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R5481:Ptpn18
|
UTSW |
1 |
34,510,744 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5865:Ptpn18
|
UTSW |
1 |
34,510,644 (GRCm39) |
splice site |
probably benign |
|
R7038:Ptpn18
|
UTSW |
1 |
34,498,906 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R7225:Ptpn18
|
UTSW |
1 |
34,511,927 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7290:Ptpn18
|
UTSW |
1 |
34,501,892 (GRCm39) |
critical splice donor site |
probably null |
|
R7411:Ptpn18
|
UTSW |
1 |
34,511,273 (GRCm39) |
critical splice donor site |
probably null |
|
R7434:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7441:Ptpn18
|
UTSW |
1 |
34,512,416 (GRCm39) |
missense |
probably benign |
0.00 |
R7442:Ptpn18
|
UTSW |
1 |
34,501,831 (GRCm39) |
missense |
probably benign |
0.02 |
R7462:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7463:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7464:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7465:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7535:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7537:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7678:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7689:Ptpn18
|
UTSW |
1 |
34,512,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7899:Ptpn18
|
UTSW |
1 |
34,508,986 (GRCm39) |
splice site |
probably null |
|
R8543:Ptpn18
|
UTSW |
1 |
34,511,229 (GRCm39) |
missense |
probably benign |
0.00 |
R8821:Ptpn18
|
UTSW |
1 |
34,511,271 (GRCm39) |
missense |
probably null |
1.00 |
R8831:Ptpn18
|
UTSW |
1 |
34,511,271 (GRCm39) |
missense |
probably null |
1.00 |
R8858:Ptpn18
|
UTSW |
1 |
34,502,196 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8879:Ptpn18
|
UTSW |
1 |
34,502,211 (GRCm39) |
missense |
probably benign |
0.23 |
R8924:Ptpn18
|
UTSW |
1 |
34,498,966 (GRCm39) |
missense |
probably benign |
0.02 |
R9657:Ptpn18
|
UTSW |
1 |
34,512,473 (GRCm39) |
missense |
possibly damaging |
0.87 |
X0065:Ptpn18
|
UTSW |
1 |
34,508,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |