Incidental Mutation 'R5865:Ptpn18'
| ID |
454102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn18
|
| Ensembl Gene |
ENSMUSG00000026126 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 18 |
| Synonyms |
Ptpk1, PTP-HSCF, FLP1, HSCF, PTP-K1 |
| MMRRC Submission |
044074-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R5865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
34498843-34514814 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 34510644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027302]
[ENSMUST00000188972]
[ENSMUST00000190122]
|
| AlphaFold |
Q61152 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027302
|
| SMART Domains |
Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
25 |
293 |
7.77e-115 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186252
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188884
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190122
|
| SMART Domains |
Protein: ENSMUSP00000139885
Gene: ENSMUSG00000026126
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
2 |
269 |
9.1e-113 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191357
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.7%
- 20x: 88.7%
|
| Validation Efficiency |
91% (59/65) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
G |
A |
3: 32,766,277 (GRCm39) |
V48M |
possibly damaging |
Het |
| Adamts2 |
T |
G |
11: 50,694,781 (GRCm39) |
Y1189* |
probably null |
Het |
| Bpifb9a |
T |
C |
2: 154,108,756 (GRCm39) |
I419T |
probably benign |
Het |
| Ccbe1 |
A |
T |
18: 66,216,222 (GRCm39) |
I167N |
possibly damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,183,380 (GRCm39) |
T207A |
probably benign |
Het |
| Cd300lf |
G |
A |
11: 115,017,126 (GRCm39) |
L66F |
probably damaging |
Het |
| Cenpk |
A |
G |
13: 104,372,702 (GRCm39) |
*92W |
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,511,760 (GRCm39) |
S2950R |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,574,331 (GRCm39) |
T2154A |
probably benign |
Het |
| Ebna1bp2 |
A |
T |
4: 118,478,332 (GRCm39) |
|
probably benign |
Het |
| Elac2 |
G |
T |
11: 64,888,783 (GRCm39) |
C532F |
probably benign |
Het |
| Fam171a1 |
T |
A |
2: 3,226,374 (GRCm39) |
D377E |
probably benign |
Het |
| Haus6 |
A |
G |
4: 86,504,594 (GRCm39) |
C466R |
possibly damaging |
Het |
| Il4ra |
T |
C |
7: 125,174,348 (GRCm39) |
S297P |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,881,748 (GRCm39) |
R766W |
probably damaging |
Het |
| Kank4 |
T |
C |
4: 98,659,630 (GRCm39) |
Y816C |
possibly damaging |
Het |
| Kcnc4 |
A |
T |
3: 107,365,515 (GRCm39) |
|
probably null |
Het |
| Kif21b |
C |
T |
1: 136,078,875 (GRCm39) |
R408* |
probably null |
Het |
| Lrrc31 |
A |
G |
3: 30,733,289 (GRCm39) |
V475A |
probably benign |
Het |
| Map2k1 |
C |
T |
9: 64,098,548 (GRCm39) |
|
probably null |
Het |
| Mc3r |
T |
A |
2: 172,091,592 (GRCm39) |
N271K |
possibly damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,281,581 (GRCm39) |
S326P |
possibly damaging |
Het |
| Muc6 |
T |
A |
7: 141,236,769 (GRCm39) |
I358F |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,204,770 (GRCm39) |
D1541G |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,899,382 (GRCm39) |
S1793G |
probably damaging |
Het |
| Nfkb1 |
T |
A |
3: 135,309,541 (GRCm39) |
T518S |
probably damaging |
Het |
| Nphs1 |
T |
A |
7: 30,173,810 (GRCm39) |
I989N |
probably damaging |
Het |
| Or5m12 |
T |
C |
2: 85,734,865 (GRCm39) |
T178A |
probably benign |
Het |
| Pcdha5 |
T |
C |
18: 37,094,474 (GRCm39) |
F328L |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,764,492 (GRCm39) |
S4322T |
probably benign |
Het |
| Peg10 |
A |
G |
6: 4,754,375 (GRCm39) |
N52S |
probably damaging |
Het |
| Phf10 |
A |
C |
17: 15,175,272 (GRCm39) |
|
probably benign |
Het |
| Pip4p1 |
A |
G |
14: 51,166,332 (GRCm39) |
|
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,741,993 (GRCm39) |
I152T |
possibly damaging |
Het |
| Rufy4 |
A |
T |
1: 74,185,914 (GRCm39) |
Y527F |
probably damaging |
Het |
| Snx32 |
T |
C |
19: 5,546,382 (GRCm39) |
M293V |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,894,330 (GRCm39) |
L1827M |
possibly damaging |
Het |
| Sstr5 |
T |
A |
17: 25,710,218 (GRCm39) |
D337V |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,573,631 (GRCm39) |
F194L |
probably benign |
Het |
| Tcerg1 |
T |
A |
18: 42,669,413 (GRCm39) |
W459R |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,192,860 (GRCm39) |
I525L |
probably benign |
Het |
| Trim43b |
C |
T |
9: 88,967,659 (GRCm39) |
V325I |
probably benign |
Het |
| Txndc11 |
A |
T |
16: 10,940,552 (GRCm39) |
I180K |
probably damaging |
Het |
| Vmn1r193 |
A |
G |
13: 22,403,395 (GRCm39) |
L199P |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,804,557 (GRCm39) |
M121T |
probably benign |
Het |
| Zfhx4 |
G |
C |
3: 5,467,719 (GRCm39) |
A2626P |
probably damaging |
Het |
| Zfp445 |
C |
T |
9: 122,682,552 (GRCm39) |
S463N |
probably benign |
Het |
| Zwilch |
T |
A |
9: 64,080,190 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ptpn18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Ptpn18
|
APN |
1 |
34,502,200 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCCAGCACTTAGGAAGCTG -3'
(R):5'- CGTCCTTAGGAACAGGAAGACG -3'
Sequencing Primer
(F):5'- CCAGCACTTAGGAAGCTGAAGTC -3'
(R):5'- GGGGCAAGCACATACCTCTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation