Incidental Mutation 'R8823:Ptpn12'
| ID |
673265 |
| 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 |
068656-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8823 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21191643-21260909 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21203621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 386
(Y386H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030556]
[ENSMUST00000151813]
|
| AlphaFold |
P35831 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030556
AA Change: Y386H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030556
Gene: ENSMUSG00000028771
AA Change: Y386H
| 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
|
| Meta Mutation Damage Score |
0.2884 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (46/46) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
T |
A |
8: 41,133,228 (GRCm39) |
I232K |
probably benign |
Het |
| Ap5z1 |
T |
C |
5: 142,460,191 (GRCm39) |
L506P |
probably benign |
Het |
| Atg5lrt |
A |
T |
10: 95,972,633 (GRCm39) |
I57F |
possibly damaging |
Het |
| Ceacam20 |
A |
T |
7: 19,705,429 (GRCm39) |
Y140F |
probably damaging |
Het |
| Chfr |
G |
A |
5: 110,300,258 (GRCm39) |
R334H |
probably damaging |
Het |
| Emx2 |
A |
G |
19: 59,447,880 (GRCm39) |
H78R |
probably damaging |
Het |
| Etnppl |
G |
A |
3: 130,420,195 (GRCm39) |
G204R |
probably damaging |
Het |
| Fah |
A |
G |
7: 84,254,925 (GRCm39) |
F3L |
possibly damaging |
Het |
| Galnt12 |
G |
T |
4: 47,091,928 (GRCm39) |
|
probably benign |
Het |
| Gbx1 |
A |
G |
5: 24,710,051 (GRCm39) |
S265P |
probably damaging |
Het |
| Gm17087 |
A |
G |
17: 8,785,233 (GRCm39) |
*157R |
probably null |
Het |
| Grin2a |
T |
A |
16: 9,487,758 (GRCm39) |
N380I |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,811,856 (GRCm39) |
T269I |
|
Het |
| Hace1 |
T |
C |
10: 45,524,956 (GRCm39) |
Y241H |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,722 (GRCm39) |
D291G |
possibly damaging |
Het |
| Ifi208 |
A |
G |
1: 173,511,102 (GRCm39) |
Y419C |
probably damaging |
Het |
| Ighv8-5 |
A |
G |
12: 115,031,267 (GRCm39) |
S91P |
probably damaging |
Het |
| Igkv15-103 |
T |
C |
6: 68,414,855 (GRCm39) |
L98P |
probably damaging |
Het |
| Igsf5 |
C |
T |
16: 96,222,939 (GRCm39) |
S61L |
possibly damaging |
Het |
| Ipo9 |
A |
G |
1: 135,347,077 (GRCm39) |
W138R |
probably damaging |
Het |
| Kank4 |
A |
T |
4: 98,668,240 (GRCm39) |
L69Q |
probably damaging |
Het |
| Kcnd3 |
T |
C |
3: 105,574,330 (GRCm39) |
I505T |
probably benign |
Het |
| Lrtm2 |
T |
A |
6: 119,294,193 (GRCm39) |
I313F |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,040,648 (GRCm39) |
I733F |
possibly damaging |
Het |
| Myh2 |
A |
T |
11: 67,076,300 (GRCm39) |
R800S |
probably damaging |
Het |
| Myo1d |
A |
T |
11: 80,492,571 (GRCm39) |
I728N |
possibly damaging |
Het |
| Or10a3n |
A |
G |
7: 108,493,155 (GRCm39) |
I158T |
probably benign |
Het |
| Pdcd1 |
T |
C |
1: 93,969,220 (GRCm39) |
R33G |
probably benign |
Het |
| Polr1b |
T |
C |
2: 128,967,457 (GRCm39) |
F950S |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,384,282 (GRCm39) |
M697K |
probably benign |
Het |
| Psmc2 |
T |
A |
5: 22,005,574 (GRCm39) |
D218E |
probably damaging |
Het |
| Rilpl2 |
C |
T |
5: 124,606,716 (GRCm39) |
R166K |
possibly damaging |
Het |
| Rtn4 |
T |
A |
11: 29,656,609 (GRCm39) |
N254K |
probably benign |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sesn3 |
T |
A |
9: 14,221,536 (GRCm39) |
|
probably benign |
Het |
| Slc35b2 |
T |
A |
17: 45,877,894 (GRCm39) |
H291Q |
probably damaging |
Het |
| Slc38a3 |
A |
C |
9: 107,533,150 (GRCm39) |
Y308D |
probably damaging |
Het |
| Snrpd2 |
T |
C |
7: 18,886,535 (GRCm39) |
V106A |
probably benign |
Het |
| Sybu |
C |
A |
15: 44,540,998 (GRCm39) |
A355S |
possibly damaging |
Het |
| Tes3-ps |
A |
T |
13: 49,647,692 (GRCm39) |
R189S |
probably benign |
Het |
| Trmo |
T |
C |
4: 46,382,604 (GRCm39) |
D164G |
probably damaging |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,823 (GRCm39) |
Q88R |
probably benign |
Het |
| Xkr9 |
T |
C |
1: 13,742,832 (GRCm39) |
V39A |
probably benign |
Het |
| Xpo1 |
A |
T |
11: 23,217,752 (GRCm39) |
M73L |
probably benign |
Het |
| Zbtb21 |
G |
A |
16: 97,752,516 (GRCm39) |
T589I |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,350,892 (GRCm39) |
K2E |
probably damaging |
Het |
| Zfp105 |
A |
G |
9: 122,759,568 (GRCm39) |
K413R |
possibly damaging |
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 |
|
R7976:Ptpn12
|
UTSW |
5 |
21,207,631 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- CCCTTCTTGGAGAGGGACTTTC -3'
(R):5'- CTGCTTCATAGACTAGAGGTGG -3'
Sequencing Primer
(F):5'- CTTGGAGAGGGACTTTCTTAATCTC -3'
(R):5'- CATAGACTAGAGGTGGAGACTATTGC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation