Incidental Mutation 'R7976:Ptpn12'
ID |
650897 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptpn12
|
Ensembl Gene |
ENSMUSG00000028771 |
Gene Name |
protein tyrosine phosphatase, non-receptor type 12 |
Synonyms |
PTP-PEST, PTP-P19, P19-PTP |
MMRRC Submission |
046019-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7976 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
21191643-21260909 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 21207631 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 275
(S275*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030556]
[ENSMUST00000151813]
[ENSMUST00000199774]
|
AlphaFold |
P35831 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030556
AA Change: S275*
|
SMART Domains |
Protein: ENSMUSP00000030556 Gene: ENSMUSG00000028771 AA Change: S275*
Domain | Start | End | E-Value | Type |
PTPc
|
27 |
295 |
2.14e-126 |
SMART |
Blast:PTPc
|
338 |
399 |
7e-12 |
BLAST |
low complexity region
|
499 |
518 |
N/A |
INTRINSIC |
low complexity region
|
603 |
615 |
N/A |
INTRINSIC |
low complexity region
|
622 |
640 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151813
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199774
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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 signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] PHENOTYPE: Homozygous mutation of this gene results in early embryonic lethality, defective embryo turning, improper somitogenesis and vasculogenesis, impaired liver development, truncation of the caudal region and mesenchyme deficiency. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adss1 |
A |
C |
12: 112,602,831 (GRCm39) |
I341L |
probably benign |
Het |
Aldh1b1 |
T |
A |
4: 45,803,092 (GRCm39) |
M210K |
possibly damaging |
Het |
Ankrd17 |
G |
A |
5: 90,431,451 (GRCm39) |
Q778* |
probably null |
Het |
Bmper |
T |
C |
9: 23,318,106 (GRCm39) |
V575A |
probably damaging |
Het |
Brinp2 |
A |
G |
1: 158,073,913 (GRCm39) |
V736A |
probably benign |
Het |
Ccdc81 |
A |
T |
7: 89,515,723 (GRCm39) |
L652* |
probably null |
Het |
Cdt1 |
C |
T |
8: 123,298,585 (GRCm39) |
R437W |
probably damaging |
Het |
Ckb |
A |
C |
12: 111,637,466 (GRCm39) |
L165R |
possibly damaging |
Het |
Col25a1 |
G |
T |
3: 130,290,075 (GRCm39) |
G255V |
probably damaging |
Het |
Ddx17 |
A |
G |
15: 79,420,156 (GRCm39) |
|
probably null |
Het |
Dennd4a |
G |
T |
9: 64,759,794 (GRCm39) |
G300W |
possibly damaging |
Het |
Dlg4 |
T |
A |
11: 69,930,008 (GRCm39) |
I316N |
probably damaging |
Het |
Dlgap2 |
C |
T |
8: 14,793,410 (GRCm39) |
P467L |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,732,227 (GRCm39) |
I4226M |
possibly damaging |
Het |
Drc1 |
G |
A |
5: 30,521,829 (GRCm39) |
A734T |
probably benign |
Het |
Entpd1 |
A |
G |
19: 40,600,865 (GRCm39) |
M1V |
probably null |
Het |
Exph5 |
T |
G |
9: 53,287,935 (GRCm39) |
I1672S |
possibly damaging |
Het |
Fam149b |
T |
A |
14: 20,427,852 (GRCm39) |
D379E |
probably damaging |
Het |
Fgfr2 |
T |
C |
7: 129,787,074 (GRCm39) |
T461A |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,919,946 (GRCm39) |
V469A |
probably damaging |
Het |
Frem3 |
A |
T |
8: 81,338,231 (GRCm39) |
K175* |
probably null |
Het |
Fsd2 |
C |
T |
7: 81,209,629 (GRCm39) |
G71E |
probably benign |
Het |
Gcat |
T |
C |
15: 78,919,188 (GRCm39) |
I116T |
probably damaging |
Het |
Gigyf2 |
G |
A |
1: 87,331,458 (GRCm39) |
S202N |
unknown |
Het |
Glra3 |
T |
G |
8: 56,565,911 (GRCm39) |
|
probably null |
Het |
Golga4 |
C |
T |
9: 118,365,836 (GRCm39) |
T296I |
possibly damaging |
Het |
Herc1 |
C |
T |
9: 66,341,552 (GRCm39) |
T1816I |
possibly damaging |
Het |
Igfbpl1 |
C |
A |
4: 45,826,786 (GRCm39) |
R3L |
unknown |
Het |
Ighv15-2 |
A |
T |
12: 114,528,470 (GRCm39) |
S28T |
probably benign |
Het |
Kat2b |
T |
A |
17: 53,955,835 (GRCm39) |
M427K |
probably benign |
Het |
Kdm4c |
A |
G |
4: 74,295,906 (GRCm39) |
T882A |
probably damaging |
Het |
Kif1a |
G |
T |
1: 92,967,496 (GRCm39) |
F1138L |
probably damaging |
Het |
Klhl20 |
A |
T |
1: 160,934,307 (GRCm39) |
S237R |
probably benign |
Het |
Lamc1 |
A |
T |
1: 153,123,014 (GRCm39) |
N725K |
probably damaging |
Het |
Lmtk3 |
A |
G |
7: 45,444,890 (GRCm39) |
D1191G |
unknown |
Het |
Ltbp1 |
C |
A |
17: 75,670,358 (GRCm39) |
N1466K |
possibly damaging |
Het |
Ly75 |
T |
C |
2: 60,195,432 (GRCm39) |
E242G |
probably damaging |
Het |
Lyrm1 |
T |
C |
7: 119,515,449 (GRCm39) |
V113A |
probably benign |
Het |
Mfsd13a |
G |
T |
19: 46,360,446 (GRCm39) |
A333S |
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,167,214 (GRCm39) |
S380P |
possibly damaging |
Het |
Mrc2 |
A |
G |
11: 105,238,829 (GRCm39) |
K1295E |
possibly damaging |
Het |
Muc5ac |
A |
T |
7: 141,363,528 (GRCm39) |
I2280F |
unknown |
Het |
Neurod2 |
A |
C |
11: 98,218,023 (GRCm39) |
F380L |
probably damaging |
Het |
Ntrk3 |
G |
A |
7: 78,005,954 (GRCm39) |
A469V |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,175,888 (GRCm39) |
F584L |
probably damaging |
Het |
Oas1d |
A |
T |
5: 121,057,210 (GRCm39) |
Y272F |
probably damaging |
Het |
Olfm3 |
T |
C |
3: 114,874,794 (GRCm39) |
V30A |
probably benign |
Het |
Or4c110 |
T |
A |
2: 88,831,973 (GRCm39) |
I220F |
probably damaging |
Het |
Or5b117 |
A |
G |
19: 13,431,563 (GRCm39) |
I106T |
probably benign |
Het |
Or8k22 |
A |
G |
2: 86,163,064 (GRCm39) |
V212A |
probably benign |
Het |
Pcdhga12 |
A |
G |
18: 37,901,427 (GRCm39) |
Y753C |
probably damaging |
Het |
Phox2b |
A |
G |
5: 67,253,514 (GRCm39) |
V294A |
unknown |
Het |
Prdm2 |
A |
T |
4: 142,859,812 (GRCm39) |
C1159* |
probably null |
Het |
Rigi |
T |
C |
4: 40,209,894 (GRCm39) |
M725V |
probably damaging |
Het |
Rnf223 |
A |
T |
4: 156,216,776 (GRCm39) |
E50D |
probably damaging |
Het |
Rrp12 |
A |
T |
19: 41,879,548 (GRCm39) |
Y169N |
probably benign |
Het |
Sgip1 |
T |
C |
4: 102,757,736 (GRCm39) |
|
probably null |
Het |
Shank2 |
T |
C |
7: 143,964,798 (GRCm39) |
I802T |
probably damaging |
Het |
Skint2 |
A |
T |
4: 112,481,329 (GRCm39) |
N64I |
probably damaging |
Het |
Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
Tmem106c |
G |
C |
15: 97,865,985 (GRCm39) |
G192R |
probably damaging |
Het |
Tmem72 |
T |
C |
6: 116,673,800 (GRCm39) |
H106R |
probably damaging |
Het |
Upf2 |
G |
C |
2: 6,030,926 (GRCm39) |
V789L |
unknown |
Het |
Vash1 |
A |
G |
12: 86,726,758 (GRCm39) |
|
probably benign |
Het |
Vmn1r201 |
T |
A |
13: 22,658,875 (GRCm39) |
Y30N |
probably benign |
Het |
Xpr1 |
A |
G |
1: 155,166,035 (GRCm39) |
F571L |
possibly damaging |
Het |
Yif1a |
T |
C |
19: 5,139,815 (GRCm39) |
S87P |
probably damaging |
Het |
Zer1 |
T |
C |
2: 29,997,520 (GRCm39) |
Y462C |
probably damaging |
Het |
Zfp597 |
G |
A |
16: 3,684,375 (GRCm39) |
P127L |
possibly damaging |
Het |
Zxdc |
T |
C |
6: 90,375,749 (GRCm39) |
S742P |
probably benign |
Het |
|
Other mutations in Ptpn12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Ptpn12
|
APN |
5 |
21,234,848 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00226:Ptpn12
|
APN |
5 |
21,203,666 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01432:Ptpn12
|
APN |
5 |
21,203,553 (GRCm39) |
nonsense |
probably null |
|
IGL02285:Ptpn12
|
APN |
5 |
21,260,711 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02488:Ptpn12
|
APN |
5 |
21,227,060 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02550:Ptpn12
|
APN |
5 |
21,203,137 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02640:Ptpn12
|
APN |
5 |
21,224,244 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02652:Ptpn12
|
APN |
5 |
21,207,435 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03130:Ptpn12
|
APN |
5 |
21,207,610 (GRCm39) |
unclassified |
probably benign |
|
R0531:Ptpn12
|
UTSW |
5 |
21,203,481 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0948:Ptpn12
|
UTSW |
5 |
21,203,041 (GRCm39) |
missense |
probably benign |
|
R1018:Ptpn12
|
UTSW |
5 |
21,234,867 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1184:Ptpn12
|
UTSW |
5 |
21,203,354 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1699:Ptpn12
|
UTSW |
5 |
21,203,168 (GRCm39) |
missense |
probably benign |
0.01 |
R1938:Ptpn12
|
UTSW |
5 |
21,198,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R1952:Ptpn12
|
UTSW |
5 |
21,203,308 (GRCm39) |
missense |
probably benign |
0.34 |
R2152:Ptpn12
|
UTSW |
5 |
21,207,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R2153:Ptpn12
|
UTSW |
5 |
21,207,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R2154:Ptpn12
|
UTSW |
5 |
21,207,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R2267:Ptpn12
|
UTSW |
5 |
21,203,409 (GRCm39) |
missense |
probably damaging |
0.98 |
R2358:Ptpn12
|
UTSW |
5 |
21,203,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R3551:Ptpn12
|
UTSW |
5 |
21,194,047 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3931:Ptpn12
|
UTSW |
5 |
21,206,321 (GRCm39) |
missense |
probably benign |
0.00 |
R4013:Ptpn12
|
UTSW |
5 |
21,197,741 (GRCm39) |
missense |
probably benign |
0.05 |
R4039:Ptpn12
|
UTSW |
5 |
21,207,508 (GRCm39) |
nonsense |
probably null |
|
R4501:Ptpn12
|
UTSW |
5 |
21,224,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R4748:Ptpn12
|
UTSW |
5 |
21,210,383 (GRCm39) |
nonsense |
probably null |
|
R4754:Ptpn12
|
UTSW |
5 |
21,203,587 (GRCm39) |
missense |
probably benign |
0.34 |
R4963:Ptpn12
|
UTSW |
5 |
21,220,706 (GRCm39) |
splice site |
probably null |
|
R5160:Ptpn12
|
UTSW |
5 |
21,202,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R5581:Ptpn12
|
UTSW |
5 |
21,220,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R5789:Ptpn12
|
UTSW |
5 |
21,194,013 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5836:Ptpn12
|
UTSW |
5 |
21,214,544 (GRCm39) |
nonsense |
probably null |
|
R6383:Ptpn12
|
UTSW |
5 |
21,192,466 (GRCm39) |
nonsense |
probably null |
|
R6883:Ptpn12
|
UTSW |
5 |
21,260,711 (GRCm39) |
missense |
probably benign |
0.40 |
R7544:Ptpn12
|
UTSW |
5 |
21,214,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R7885:Ptpn12
|
UTSW |
5 |
21,203,523 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7915:Ptpn12
|
UTSW |
5 |
21,214,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R7960:Ptpn12
|
UTSW |
5 |
21,260,687 (GRCm39) |
missense |
probably benign |
0.01 |
R8032:Ptpn12
|
UTSW |
5 |
21,203,041 (GRCm39) |
missense |
probably benign |
|
R8224:Ptpn12
|
UTSW |
5 |
21,203,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R8473:Ptpn12
|
UTSW |
5 |
21,203,357 (GRCm39) |
missense |
probably benign |
0.00 |
R8823:Ptpn12
|
UTSW |
5 |
21,203,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R9375:Ptpn12
|
UTSW |
5 |
21,224,212 (GRCm39) |
missense |
probably benign |
0.21 |
R9613:Ptpn12
|
UTSW |
5 |
21,203,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R9707:Ptpn12
|
UTSW |
5 |
21,207,620 (GRCm39) |
missense |
probably damaging |
0.99 |
X0004:Ptpn12
|
UTSW |
5 |
21,224,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCGATCTTCTGTGCTCCATG -3'
(R):5'- ATCTGCAGCACTGTCTGTC -3'
Sequencing Primer
(F):5'- CTGTGCTCCATGAATTTCATACAG -3'
(R):5'- CAGCACTGTCTGTCTTTGTCTGATAG -3'
|
Posted On |
2020-09-15 |