Incidental Mutation 'R4522:Ptpn18'
| ID |
334247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn18
|
| Ensembl Gene |
ENSMUSG00000026126 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 18 |
| Synonyms |
PTP-K1, FLP1, PTP-HSCF, HSCF, Ptpk1 |
| MMRRC Submission |
041765-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R4522 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
34459762-34475733 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34472960 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 55
(L55P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027302]
[ENSMUST00000188972]
[ENSMUST00000190122]
|
| AlphaFold |
Q61152 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027302
AA Change: L404P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
AA Change: L404P
| 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: ENSMUST00000188019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188292
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188884
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188972
AA Change: L55P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
A |
G |
10: 50,660,670 |
N700D |
probably benign |
Het |
| Babam2 |
G |
A |
5: 32,007,242 |
V287M |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,189,801 |
I146M |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,654,430 |
R1248H |
probably damaging |
Het |
| Ccdc88c |
G |
T |
12: 100,913,332 |
S1843R |
possibly damaging |
Het |
| Chaf1b |
G |
A |
16: 93,901,295 |
A485T |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,962,224 |
R1594G |
probably damaging |
Het |
| Fam122c |
G |
A |
X: 53,293,499 |
R94H |
possibly damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,484,042 |
I228T |
probably damaging |
Het |
| Gm3739 |
T |
A |
14: 7,299,398 |
K86* |
probably null |
Het |
| Gm7173 |
A |
T |
X: 79,509,995 |
N291K |
possibly damaging |
Het |
| Mark2 |
A |
T |
19: 7,285,948 |
D151E |
probably damaging |
Het |
| Nop2 |
G |
T |
6: 125,133,552 |
R47L |
probably damaging |
Het |
| Nwd1 |
A |
T |
8: 72,670,951 |
D606V |
probably damaging |
Het |
| Olfr1132 |
T |
A |
2: 87,635,151 |
I199L |
probably benign |
Het |
| Pcbp1 |
T |
C |
6: 86,525,050 |
N289S |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,524,319 |
S21P |
possibly damaging |
Het |
| Rpl10l |
T |
C |
12: 66,283,738 |
D207G |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 |
C537R |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,578,366 |
I450N |
possibly damaging |
Het |
| Speg |
A |
G |
1: 75,428,330 |
E2922G |
probably damaging |
Het |
| Spem1 |
C |
A |
11: 69,821,805 |
|
probably null |
Het |
| Stxbp3-ps |
A |
T |
19: 9,559,110 |
|
noncoding transcript |
Het |
| Tmem38a |
C |
T |
8: 72,572,161 |
P20S |
possibly damaging |
Het |
| Tmod2 |
T |
C |
9: 75,592,584 |
T129A |
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,280,172 |
T1845A |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 104,149,718 |
V191M |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,864,625 |
T3854M |
probably damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,751,926 |
H95L |
probably benign |
Het |
| Xdh |
C |
A |
17: 73,898,344 |
G1042V |
probably damaging |
Het |
| Zfp105 |
T |
A |
9: 122,930,056 |
V264E |
possibly damaging |
Het |
|
| Other mutations in Ptpn18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Ptpn18
|
APN |
1 |
34463119 |
missense |
probably damaging |
0.98 |
|
IGL01611:Ptpn18
|
APN |
1 |
34459817 |
utr 5 prime |
probably benign |
|
|
IGL01633:Ptpn18
|
APN |
1 |
34471908 |
missense |
probably benign |
0.03 |
|
IGL03379:Ptpn18
|
APN |
1 |
34470257 |
splice site |
probably null |
|
|
R0848:Ptpn18
|
UTSW |
1 |
34462702 |
missense |
probably damaging |
1.00 |
|
R1400:Ptpn18
|
UTSW |
1 |
34463506 |
critical splice donor site |
probably null |
|
|
R1973:Ptpn18
|
UTSW |
1 |
34463109 |
missense |
probably damaging |
1.00 |
|
R2040:Ptpn18
|
UTSW |
1 |
34470219 |
missense |
probably damaging |
0.99 |
|
R2113:Ptpn18
|
UTSW |
1 |
34471661 |
missense |
probably damaging |
1.00 |
|
R2963:Ptpn18
|
UTSW |
1 |
34471692 |
nonsense |
probably null |
|
|
R4061:Ptpn18
|
UTSW |
1 |
34472930 |
missense |
possibly damaging |
0.66 |
|
R4062:Ptpn18
|
UTSW |
1 |
34472930 |
missense |
possibly damaging |
0.66 |
|
R4509:Ptpn18
|
UTSW |
1 |
34462742 |
missense |
possibly damaging |
0.49 |
|
R4626:Ptpn18
|
UTSW |
1 |
34471792 |
splice site |
probably null |
|
|
R4978:Ptpn18
|
UTSW |
1 |
34469813 |
intron |
probably benign |
|
|
R5260:Ptpn18
|
UTSW |
1 |
34463510 |
splice site |
probably benign |
|
|
R5335:Ptpn18
|
UTSW |
1 |
34463178 |
missense |
probably damaging |
1.00 |
|
R5481:Ptpn18
|
UTSW |
1 |
34471663 |
missense |
possibly damaging |
0.67 |
|
R5865:Ptpn18
|
UTSW |
1 |
34471563 |
splice site |
probably benign |
|
|
R7038:Ptpn18
|
UTSW |
1 |
34459825 |
start codon destroyed |
probably null |
1.00 |
|
R7225:Ptpn18
|
UTSW |
1 |
34472846 |
missense |
possibly damaging |
0.58 |
|
R7290:Ptpn18
|
UTSW |
1 |
34462811 |
critical splice donor site |
probably null |
|
|
R7411:Ptpn18
|
UTSW |
1 |
34472192 |
critical splice donor site |
probably null |
|
|
R7434:Ptpn18
|
UTSW |
1 |
34473364 |
missense |
possibly damaging |
0.75 |
|
R7441:Ptpn18
|
UTSW |
1 |
34473335 |
missense |
probably benign |
0.00 |
|
R7442:Ptpn18
|
UTSW |
1 |
34462750 |
missense |
probably benign |
0.02 |
|
R7462:Ptpn18
|
UTSW |
1 |
34473364 |
missense |
possibly damaging |
0.75 |
|
R7463:Ptpn18
|
UTSW |
1 |
34473364 |
missense |
possibly damaging |
0.75 |
|
R7464:Ptpn18
|
UTSW |
1 |
34473364 |
missense |
possibly damaging |
0.75 |
|
R7465:Ptpn18
|
UTSW |
1 |
34473364 |
missense |
possibly damaging |
0.75 |
|
R7535:Ptpn18
|
UTSW |
1 |
34473364 |
missense |
possibly damaging |
0.75 |
|
R7537:Ptpn18
|
UTSW |
1 |
34473364 |
missense |
possibly damaging |
0.75 |
|
R7678:Ptpn18
|
UTSW |
1 |
34473364 |
missense |
possibly damaging |
0.75 |
|
R7689:Ptpn18
|
UTSW |
1 |
34473364 |
missense |
possibly damaging |
0.75 |
|
R7899:Ptpn18
|
UTSW |
1 |
34469905 |
splice site |
probably null |
|
|
R8543:Ptpn18
|
UTSW |
1 |
34472148 |
missense |
probably benign |
0.00 |
|
R8821:Ptpn18
|
UTSW |
1 |
34472190 |
missense |
probably null |
1.00 |
|
R8831:Ptpn18
|
UTSW |
1 |
34472190 |
missense |
probably null |
1.00 |
|
R8858:Ptpn18
|
UTSW |
1 |
34463115 |
missense |
possibly damaging |
0.88 |
|
R8879:Ptpn18
|
UTSW |
1 |
34463130 |
missense |
probably benign |
0.23 |
|
R8924:Ptpn18
|
UTSW |
1 |
34459885 |
missense |
probably benign |
0.02 |
|
R9657:Ptpn18
|
UTSW |
1 |
34473392 |
missense |
possibly damaging |
0.87 |
|
X0065:Ptpn18
|
UTSW |
1 |
34469891 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCATGGCTGACACTTAC -3'
(R):5'- TCCAAGTTCGGAGGTCTGTC -3'
Sequencing Primer
(F):5'- CATGGCTGACACTTACGCTGTG -3'
(R):5'- TCCCAATTGAGACCTGACCTGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation