Incidental Mutation 'R1973:Ptpn18'
ID |
221162 |
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 |
039986-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R1973 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
34498843-34514814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 34502190 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 45
(D45Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027302]
[ENSMUST00000190122]
|
AlphaFold |
Q61152 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027302
AA Change: D69Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027302 Gene: ENSMUSG00000026126 AA Change: D69Y
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 damaging
Transcript: ENSMUST00000190122
AA Change: D45Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139885 Gene: ENSMUSG00000026126 AA Change: D45Y
Domain | Start | End | E-Value | Type |
PTPc
|
2 |
269 |
9.1e-113 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
C |
5: 8,862,746 (GRCm39) |
I143L |
probably benign |
Het |
Acp7 |
T |
A |
7: 28,307,414 (GRCm39) |
D481V |
probably damaging |
Het |
AI597479 |
T |
A |
1: 43,150,286 (GRCm39) |
I132K |
probably benign |
Het |
Anxa13 |
T |
C |
15: 58,228,030 (GRCm39) |
|
noncoding transcript |
Het |
Brca1 |
A |
T |
11: 101,417,229 (GRCm39) |
C302S |
probably benign |
Het |
Brd8 |
T |
A |
18: 34,741,066 (GRCm39) |
D420V |
probably damaging |
Het |
Cacna1g |
A |
T |
11: 94,350,603 (GRCm39) |
V414E |
possibly damaging |
Het |
Ccdc142 |
T |
A |
6: 83,079,544 (GRCm39) |
C294S |
probably benign |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Chat |
C |
T |
14: 32,146,148 (GRCm39) |
V342I |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,808,307 (GRCm39) |
S1636P |
probably damaging |
Het |
Clec4a1 |
A |
G |
6: 122,901,793 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
T |
1: 90,731,897 (GRCm39) |
I1452N |
probably damaging |
Het |
Dennd2c |
T |
C |
3: 103,039,014 (GRCm39) |
V54A |
probably benign |
Het |
Dnah1 |
C |
T |
14: 30,987,348 (GRCm39) |
W3550* |
probably null |
Het |
Efl1 |
T |
C |
7: 82,412,085 (GRCm39) |
S825P |
probably damaging |
Het |
Entrep2 |
A |
T |
7: 64,425,516 (GRCm39) |
I192N |
possibly damaging |
Het |
Faxc |
G |
A |
4: 21,993,405 (GRCm39) |
E350K |
probably benign |
Het |
Frem2 |
T |
A |
3: 53,559,653 (GRCm39) |
Y1618F |
probably benign |
Het |
Fubp3 |
A |
G |
2: 31,493,298 (GRCm39) |
T6A |
probably benign |
Het |
Gm5814 |
A |
T |
17: 47,721,474 (GRCm39) |
M63L |
probably benign |
Het |
Gpr149 |
T |
C |
3: 62,438,216 (GRCm39) |
K647R |
probably benign |
Het |
Iqgap3 |
T |
A |
3: 87,991,235 (GRCm39) |
|
probably null |
Het |
Kcnh3 |
T |
C |
15: 99,127,281 (GRCm39) |
V359A |
probably damaging |
Het |
Kit |
G |
A |
5: 75,776,102 (GRCm39) |
A295T |
probably damaging |
Het |
Krt77 |
G |
T |
15: 101,769,679 (GRCm39) |
A397E |
probably damaging |
Het |
Mis18bp1 |
G |
C |
12: 65,195,850 (GRCm39) |
S638* |
probably null |
Het |
Neurl4 |
C |
T |
11: 69,800,118 (GRCm39) |
P1091S |
probably benign |
Het |
Nod2 |
A |
T |
8: 89,379,501 (GRCm39) |
M8L |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,074,491 (GRCm39) |
T1046A |
possibly damaging |
Het |
Nsfl1c |
G |
T |
2: 151,347,334 (GRCm39) |
S202I |
probably damaging |
Het |
Nuak2 |
A |
T |
1: 132,258,340 (GRCm39) |
H257L |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,431,590 (GRCm39) |
V1195A |
possibly damaging |
Het |
Or10k2 |
T |
C |
8: 84,268,421 (GRCm39) |
V216A |
probably benign |
Het |
Or2ag12 |
T |
C |
7: 106,277,426 (GRCm39) |
D89G |
probably benign |
Het |
Or52a20 |
T |
A |
7: 103,365,804 (GRCm39) |
M1K |
probably null |
Het |
Or8b40 |
T |
A |
9: 38,027,863 (GRCm39) |
M257K |
possibly damaging |
Het |
Or8g51 |
A |
G |
9: 38,609,164 (GRCm39) |
V170A |
probably damaging |
Het |
Pclo |
G |
T |
5: 14,726,073 (GRCm39) |
|
probably null |
Het |
Pnpla7 |
A |
G |
2: 24,906,629 (GRCm39) |
D664G |
probably damaging |
Het |
Prl8a1 |
G |
A |
13: 27,760,917 (GRCm39) |
T105I |
probably benign |
Het |
Ptger1 |
C |
A |
8: 84,396,083 (GRCm39) |
T380K |
probably benign |
Het |
Ptk7 |
G |
A |
17: 46,897,733 (GRCm39) |
Q282* |
probably null |
Het |
Rab11fip3 |
T |
C |
17: 26,243,365 (GRCm39) |
D589G |
probably damaging |
Het |
Rara |
A |
G |
11: 98,862,496 (GRCm39) |
N299S |
possibly damaging |
Het |
Rpl13a |
T |
A |
7: 44,775,419 (GRCm39) |
K368* |
probably null |
Het |
Rslcan18 |
T |
C |
13: 67,256,087 (GRCm39) |
|
probably benign |
Het |
Rtel1 |
A |
G |
2: 180,993,419 (GRCm39) |
Y731C |
probably benign |
Het |
Sec16a |
A |
T |
2: 26,316,501 (GRCm39) |
S1666R |
probably damaging |
Het |
Sis |
A |
G |
3: 72,828,337 (GRCm39) |
F1217S |
probably damaging |
Het |
Slc10a7 |
T |
A |
8: 79,423,962 (GRCm39) |
|
probably null |
Het |
Slc22a7 |
A |
G |
17: 46,748,016 (GRCm39) |
V214A |
probably damaging |
Het |
Slc26a8 |
T |
C |
17: 28,882,579 (GRCm39) |
I249V |
probably benign |
Het |
Slc38a4 |
T |
C |
15: 96,897,478 (GRCm39) |
K446E |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,192,795 (GRCm39) |
G361S |
probably damaging |
Het |
Spef2 |
T |
G |
15: 9,663,152 (GRCm39) |
*876C |
probably null |
Het |
Spink11 |
A |
G |
18: 44,329,205 (GRCm39) |
C14R |
unknown |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Tnfaip3 |
T |
C |
10: 18,880,252 (GRCm39) |
N605S |
probably damaging |
Het |
Trpc1 |
A |
G |
9: 95,605,308 (GRCm39) |
M283T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,544,706 (GRCm39) |
S32799P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,550,443 (GRCm39) |
I31613T |
probably damaging |
Het |
Ugt1a10 |
A |
T |
1: 87,983,769 (GRCm39) |
Y189F |
probably damaging |
Het |
Usp32 |
G |
T |
11: 84,994,757 (GRCm39) |
L52I |
probably benign |
Het |
Usp33 |
A |
G |
3: 152,065,923 (GRCm39) |
T68A |
possibly damaging |
Het |
Vmn1r7 |
A |
G |
6: 57,002,011 (GRCm39) |
F83S |
probably benign |
Het |
Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
Vps26c |
T |
C |
16: 94,302,405 (GRCm39) |
N267S |
probably damaging |
Het |
Wdr43 |
A |
G |
17: 71,947,235 (GRCm39) |
N364D |
probably benign |
Het |
Zdbf2 |
C |
A |
1: 63,348,860 (GRCm39) |
P2413Q |
unknown |
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 |
|
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 |
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'- ACAAATGCTGGGTGGCAGTG -3'
(R):5'- TCCATCTATGCCCTAGGAAAGGC -3'
Sequencing Primer
(F):5'- CATTTGGCCGCACCCAC -3'
(R):5'- GGCCCATTCATTAACGAGATGCTG -3'
|
Posted On |
2014-08-25 |