Incidental Mutation 'R4509:Ptpn18'
ID |
331100 |
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 |
041758-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R4509 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
34498843-34514814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34501823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 45
(V45A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027302
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027302]
[ENSMUST00000190122]
|
AlphaFold |
Q61152 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027302
AA Change: V45A
PolyPhen 2
Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000027302 Gene: ENSMUSG00000026126 AA Change: V45A
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 benign
Transcript: ENSMUST00000190122
AA Change: V21A
PolyPhen 2
Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139885 Gene: ENSMUSG00000026126 AA Change: V21A
Domain | Start | End | E-Value | Type |
PTPc
|
2 |
269 |
9.1e-113 |
SMART |
|
Meta Mutation Damage Score |
0.2687 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (48/49) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,857,581 (GRCm39) |
L657P |
probably damaging |
Het |
Adam4 |
A |
T |
12: 81,468,521 (GRCm39) |
C33* |
probably null |
Het |
Adam6b |
T |
C |
12: 113,453,972 (GRCm39) |
V263A |
probably benign |
Het |
Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
T |
C |
10: 50,718,339 (GRCm39) |
F2011L |
probably benign |
Het |
Atp5pf |
T |
C |
16: 84,624,862 (GRCm39) |
D104G |
probably benign |
Het |
Cacna1d |
T |
C |
14: 29,818,928 (GRCm39) |
Y1209C |
probably damaging |
Het |
Camta2 |
G |
A |
11: 70,571,844 (GRCm39) |
T484M |
probably benign |
Het |
Ccdc178 |
T |
C |
18: 22,200,449 (GRCm39) |
N452D |
possibly damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cttnbp2nl |
T |
C |
3: 104,940,063 (GRCm39) |
N2S |
probably damaging |
Het |
Gm15032 |
A |
T |
X: 141,405,622 (GRCm39) |
|
noncoding transcript |
Het |
Gzmg |
G |
A |
14: 56,394,210 (GRCm39) |
P228L |
probably damaging |
Het |
Hao1 |
T |
A |
2: 134,364,964 (GRCm39) |
D221V |
probably damaging |
Het |
Ints9 |
A |
G |
14: 65,266,381 (GRCm39) |
D411G |
possibly damaging |
Het |
Lnx1 |
C |
T |
5: 74,780,853 (GRCm39) |
D382N |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,715,883 (GRCm39) |
R2022C |
probably damaging |
Het |
Mipep |
T |
C |
14: 61,064,770 (GRCm39) |
Y375H |
probably damaging |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Pah |
T |
C |
10: 87,412,077 (GRCm39) |
|
probably null |
Het |
Perm1 |
T |
C |
4: 156,302,043 (GRCm39) |
S196P |
probably benign |
Het |
Pik3c2g |
A |
T |
6: 139,665,732 (GRCm39) |
T18S |
probably benign |
Het |
Polq |
G |
A |
16: 36,868,925 (GRCm39) |
R765H |
probably damaging |
Het |
Ppp3cb |
A |
T |
14: 20,565,569 (GRCm39) |
|
probably benign |
Het |
Psd4 |
T |
C |
2: 24,286,347 (GRCm39) |
S316P |
probably benign |
Het |
Rasgrp3 |
A |
G |
17: 75,807,668 (GRCm39) |
M242V |
probably damaging |
Het |
Repin1 |
T |
C |
6: 48,573,460 (GRCm39) |
C130R |
possibly damaging |
Het |
Rrp1 |
G |
T |
10: 78,248,656 (GRCm39) |
T44K |
possibly damaging |
Het |
Slc44a5 |
A |
G |
3: 153,939,710 (GRCm39) |
Y88C |
probably damaging |
Het |
Socs1 |
C |
T |
16: 10,602,218 (GRCm39) |
R173Q |
probably benign |
Het |
Speer3 |
T |
G |
5: 13,846,368 (GRCm39) |
N229K |
possibly damaging |
Het |
Sult2a7 |
T |
A |
7: 14,204,086 (GRCm39) |
I226F |
probably damaging |
Het |
Tdp1 |
G |
A |
12: 99,921,324 (GRCm39) |
|
probably benign |
Het |
Tnfrsf21 |
G |
A |
17: 43,396,279 (GRCm39) |
S521N |
probably benign |
Het |
Tnip1 |
T |
A |
11: 54,817,616 (GRCm39) |
S244C |
probably benign |
Het |
Ubqln3 |
G |
A |
7: 103,790,651 (GRCm39) |
L480F |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,789,172 (GRCm39) |
P3817L |
probably damaging |
Het |
Xpr1 |
A |
G |
1: 155,165,907 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,520,411 (GRCm39) |
E511G |
probably benign |
Het |
Zfp560 |
C |
T |
9: 20,260,019 (GRCm39) |
C281Y |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTGCACACATGTTCTGGG -3'
(R):5'- AATAGCATGCTTTGGGGAGTG -3'
Sequencing Primer
(F):5'- ACGTTCATCTGCACAATGGG -3'
(R):5'- CTTTGGGGAGTGGCGGG -3'
|
Posted On |
2015-07-21 |