Incidental Mutation 'R7463:Ptpn18'
| ID |
578538 |
| 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 |
045537-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R7463 (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: 97.7%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,634,698 (GRCm39) |
V435E |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,878,399 (GRCm39) |
D413G |
probably damaging |
Het |
| Adgrg6 |
T |
A |
10: 14,310,140 (GRCm39) |
D727V |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,583,452 (GRCm39) |
Q309* |
probably null |
Het |
| Amy1 |
A |
T |
3: 113,363,533 (GRCm39) |
C43* |
probably null |
Het |
| Bpifc |
T |
C |
10: 85,815,198 (GRCm39) |
E256G |
probably benign |
Het |
| Bysl |
A |
T |
17: 47,913,396 (GRCm39) |
S296T |
probably benign |
Het |
| Carmil3 |
C |
T |
14: 55,739,853 (GRCm39) |
P980L |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,640,408 (GRCm39) |
M1K |
probably null |
Het |
| Cpt2 |
A |
T |
4: 107,765,354 (GRCm39) |
F137I |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,295,094 (GRCm39) |
I112V |
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,831,402 (GRCm39) |
|
probably null |
Het |
| Cyp3a41a |
T |
A |
5: 145,650,374 (GRCm39) |
I90F |
probably damaging |
Het |
| Cyp4f16 |
C |
T |
17: 32,769,761 (GRCm39) |
A457V |
possibly damaging |
Het |
| Ddx6 |
A |
G |
9: 44,540,026 (GRCm39) |
E318G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,052,038 (GRCm39) |
E213G |
probably benign |
Het |
| Dlx5 |
T |
C |
6: 6,878,316 (GRCm39) |
H238R |
probably damaging |
Het |
| Dnai2 |
A |
C |
11: 114,645,232 (GRCm39) |
I556L |
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,823,521 (GRCm39) |
V1147M |
possibly damaging |
Het |
| Egf |
G |
T |
3: 129,533,664 (GRCm39) |
Q59K |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,623,662 (GRCm39) |
Y109* |
probably null |
Het |
| Fer1l6 |
T |
A |
15: 58,445,450 (GRCm39) |
Y573* |
probably null |
Het |
| Fmnl1 |
T |
C |
11: 103,083,954 (GRCm39) |
L503P |
probably damaging |
Het |
| Gnptab |
T |
G |
10: 88,267,251 (GRCm39) |
I447M |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,783,448 (GRCm39) |
D253N |
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,929,532 (GRCm39) |
T958A |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,216,497 (GRCm39) |
L67Q |
probably damaging |
Het |
| Kif5a |
A |
G |
10: 127,079,593 (GRCm39) |
V248A |
probably damaging |
Het |
| Krt33b |
A |
G |
11: 99,920,389 (GRCm39) |
I88T |
probably damaging |
Het |
| Lhx2 |
G |
A |
2: 38,241,858 (GRCm39) |
E25K |
possibly damaging |
Het |
| Mex3d |
C |
T |
10: 80,217,532 (GRCm39) |
G562R |
|
Het |
| Myom2 |
A |
T |
8: 15,167,679 (GRCm39) |
Y1088F |
probably null |
Het |
| Ncapg |
T |
A |
5: 45,851,434 (GRCm39) |
|
probably null |
Het |
| Nudc |
A |
C |
4: 133,261,714 (GRCm39) |
V190G |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 59,013,686 (GRCm39) |
R1054S |
probably benign |
Het |
| Or10g1 |
A |
G |
14: 52,648,168 (GRCm39) |
W54R |
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,860 (GRCm39) |
V221A |
probably benign |
Het |
| Or2d4 |
A |
T |
7: 106,543,380 (GRCm39) |
V276E |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,689 (GRCm39) |
S188P |
possibly damaging |
Het |
| Or56a5 |
T |
A |
7: 104,793,144 (GRCm39) |
M119L |
probably benign |
Het |
| Or8j3 |
T |
C |
2: 86,028,182 (GRCm39) |
M305V |
probably benign |
Het |
| Pcdh10 |
A |
T |
3: 45,338,007 (GRCm39) |
R891S |
possibly damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,467,602 (GRCm39) |
S1873L |
possibly damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,878,340 (GRCm39) |
K632E |
probably benign |
Het |
| Pcdhgb8 |
G |
A |
18: 37,896,480 (GRCm39) |
A517T |
probably damaging |
Het |
| Ptgr2 |
A |
T |
12: 84,339,072 (GRCm39) |
|
probably benign |
Het |
| Racgap1 |
T |
A |
15: 99,540,839 (GRCm39) |
T4S |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,404 (GRCm39) |
H941R |
probably benign |
Het |
| Reln |
T |
C |
5: 22,308,433 (GRCm39) |
H312R |
probably damaging |
Het |
| Rnf166 |
T |
A |
8: 123,194,726 (GRCm39) |
H208L |
probably damaging |
Het |
| Spmap2 |
T |
C |
10: 79,412,549 (GRCm39) |
E314G |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,086,295 (GRCm39) |
S999P |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Tor1aip1 |
A |
T |
1: 155,883,355 (GRCm39) |
H349Q |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,750,804 (GRCm39) |
E3415V |
probably benign |
Het |
| Vmn2r102 |
A |
T |
17: 19,896,886 (GRCm39) |
N78Y |
probably damaging |
Het |
| Wdr11 |
A |
T |
7: 129,208,810 (GRCm39) |
D427V |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 30,003,449 (GRCm39) |
|
probably benign |
Het |
| Zfp516 |
T |
A |
18: 82,975,233 (GRCm39) |
M477K |
probably benign |
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 |
|
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'- ACTGGGCTGTCTAACCCAAG -3'
(R):5'- TCCATGCAGAAGCTAAGGAGTG -3'
Sequencing Primer
(F):5'- GCTGTCTAACCCAAGGCCCC -3'
(R):5'- GCTAAGGAGTGACAGGGTAAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation