Incidental Mutation 'R7537:Ptpn18'
ID |
583625 |
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 |
045609-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
R7537 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
34498843-34514814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 34512445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 417
(D417N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027302
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027302]
[ENSMUST00000188972]
[ENSMUST00000190122]
|
AlphaFold |
Q61152 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027302
AA Change: D417N
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000027302 Gene: ENSMUSG00000026126 AA Change: D417N
Domain | Start | End | E-Value | Type |
PTPc
|
25 |
293 |
7.77e-115 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188972
AA Change: D68N
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (63/63) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,967,637 (GRCm39) |
L2229P |
possibly damaging |
Het |
Acaca |
T |
A |
11: 84,151,460 (GRCm39) |
M786K |
probably damaging |
Het |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Adap1 |
T |
G |
5: 139,278,928 (GRCm39) |
E117D |
possibly damaging |
Het |
Ap5z1 |
T |
C |
5: 142,463,053 (GRCm39) |
S746P |
probably benign |
Het |
Appl2 |
A |
G |
10: 83,453,292 (GRCm39) |
I208T |
possibly damaging |
Het |
Astn1 |
A |
G |
1: 158,332,956 (GRCm39) |
E346G |
possibly damaging |
Het |
Astn1 |
G |
A |
1: 158,495,208 (GRCm39) |
|
probably null |
Het |
Atp23 |
T |
A |
10: 126,704,594 (GRCm39) |
I180L |
unknown |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Cdh23 |
A |
T |
10: 60,220,724 (GRCm39) |
I1340N |
probably benign |
Het |
Cdh8 |
G |
A |
8: 99,825,517 (GRCm39) |
Q493* |
probably null |
Het |
Ces1g |
T |
C |
8: 94,046,455 (GRCm39) |
I357V |
probably benign |
Het |
Ddx46 |
A |
G |
13: 55,798,291 (GRCm39) |
D226G |
probably damaging |
Het |
Eea1 |
C |
T |
10: 95,830,767 (GRCm39) |
Q143* |
probably null |
Het |
Erlin2 |
G |
T |
8: 27,521,800 (GRCm39) |
|
probably null |
Het |
Fat3 |
T |
A |
9: 15,849,615 (GRCm39) |
D3929V |
probably damaging |
Het |
Flt3 |
T |
C |
5: 147,271,247 (GRCm39) |
D898G |
probably damaging |
Het |
Gm16519 |
A |
G |
17: 71,236,351 (GRCm39) |
N100S |
probably benign |
Het |
Gnl1 |
A |
G |
17: 36,299,428 (GRCm39) |
H533R |
probably damaging |
Het |
Gphn |
A |
G |
12: 78,551,454 (GRCm39) |
T301A |
possibly damaging |
Het |
Herc2 |
C |
T |
7: 55,869,527 (GRCm39) |
R4295* |
probably null |
Het |
Insm2 |
T |
C |
12: 55,646,303 (GRCm39) |
S16P |
possibly damaging |
Het |
Jak2 |
C |
T |
19: 29,276,037 (GRCm39) |
T778I |
probably benign |
Het |
Lrriq3 |
A |
G |
3: 154,806,734 (GRCm39) |
T128A |
probably damaging |
Het |
Lst1 |
A |
G |
17: 35,405,920 (GRCm39) |
|
probably null |
Het |
Magi1 |
G |
T |
6: 93,685,091 (GRCm39) |
Y762* |
probably null |
Het |
Man2b1 |
T |
A |
8: 85,817,594 (GRCm39) |
C358* |
probably null |
Het |
Mga |
T |
C |
2: 119,766,032 (GRCm39) |
V1432A |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Morc2a |
C |
T |
11: 3,633,566 (GRCm39) |
Q587* |
probably null |
Het |
Mrc2 |
T |
C |
11: 105,183,623 (GRCm39) |
I4T |
probably benign |
Het |
Muc16 |
C |
A |
9: 18,549,431 (GRCm39) |
V5621F |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,047,513 (GRCm39) |
R340G |
probably benign |
Het |
Nipal3 |
T |
C |
4: 135,218,248 (GRCm39) |
Y34C |
probably damaging |
Het |
Nktr |
T |
A |
9: 121,578,345 (GRCm39) |
D804E |
unknown |
Het |
Nlrp4b |
A |
G |
7: 10,448,816 (GRCm39) |
M340V |
probably benign |
Het |
Or1e26 |
T |
A |
11: 73,480,094 (GRCm39) |
T157S |
probably benign |
Het |
Or2ag2b |
G |
A |
7: 106,417,581 (GRCm39) |
C97Y |
probably damaging |
Het |
Or56a41 |
A |
T |
7: 104,741,978 (GRCm39) |
M16K |
probably benign |
Het |
Or5al5 |
A |
G |
2: 85,961,608 (GRCm39) |
V133A |
probably benign |
Het |
Pard3 |
T |
A |
8: 128,337,063 (GRCm39) |
N1271K |
probably damaging |
Het |
Pcdhb11 |
A |
T |
18: 37,554,672 (GRCm39) |
M1L |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,732,118 (GRCm39) |
V3540A |
unknown |
Het |
Pemt |
A |
G |
11: 59,867,670 (GRCm39) |
F154S |
probably damaging |
Het |
Rnpc3 |
G |
T |
3: 113,407,481 (GRCm39) |
T376K |
probably benign |
Het |
Rpe65 |
A |
G |
3: 159,310,246 (GRCm39) |
Y143C |
probably damaging |
Het |
Sbk2 |
T |
C |
7: 4,966,148 (GRCm39) |
E12G |
probably benign |
Het |
Slc2a5 |
T |
C |
4: 150,213,526 (GRCm39) |
I106T |
possibly damaging |
Het |
Snx13 |
A |
G |
12: 35,135,981 (GRCm39) |
D92G |
probably damaging |
Het |
Sorl1 |
C |
T |
9: 41,891,984 (GRCm39) |
V1889I |
probably benign |
Het |
Spag17 |
A |
T |
3: 99,846,563 (GRCm39) |
N29I |
possibly damaging |
Het |
Speg |
T |
C |
1: 75,378,108 (GRCm39) |
V878A |
probably damaging |
Het |
Timp4 |
A |
G |
6: 115,227,421 (GRCm39) |
S53P |
probably damaging |
Het |
Tssk1 |
G |
T |
16: 17,712,948 (GRCm39) |
E244D |
probably benign |
Het |
Usp29 |
A |
C |
7: 6,964,219 (GRCm39) |
T21P |
possibly damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,258,735 (GRCm39) |
V440E |
probably benign |
Het |
Wdr59 |
T |
C |
8: 112,217,001 (GRCm39) |
D270G |
|
Het |
Zbbx |
G |
A |
3: 74,992,826 (GRCm39) |
P223S |
probably damaging |
Het |
Zfp936 |
T |
A |
7: 42,839,239 (GRCm39) |
C235* |
probably null |
Het |
Zranb3 |
A |
T |
1: 127,960,584 (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 |
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 |
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'- AGACCTCCGAACTTGGACAC -3'
(R):5'- TGCGCAAGTTGAAGCCTAAGG -3'
Sequencing Primer
(F):5'- AACTTGGACACGCCCATGG -3'
(R):5'- GGCTCCATGCAGAAGCTAAG -3'
|
Posted On |
2019-10-17 |