Incidental Mutation 'R4013:Ptpn12'
| ID |
311811 |
| 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 |
040950-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21191643-21260909 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21197741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 700
(P700L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030556]
|
| AlphaFold |
P35831 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030556
AA Change: P700L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000030556
Gene: ENSMUSG00000028771
AA Change: P700L
| 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 |
noncoding transcript
Transcript: ENSMUST00000151366
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
| Validation Efficiency |
98% (47/48) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,668,104 (GRCm39) |
Q168R |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,761,727 (GRCm39) |
|
probably benign |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Atp6v0a2 |
G |
A |
5: 124,789,860 (GRCm39) |
V429M |
probably damaging |
Het |
| Cbln4 |
A |
T |
2: 171,879,477 (GRCm39) |
M137K |
probably damaging |
Het |
| Cfap57 |
A |
G |
4: 118,450,340 (GRCm39) |
V594A |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,699,797 (GRCm39) |
E28G |
possibly damaging |
Het |
| Clip4 |
T |
A |
17: 72,163,541 (GRCm39) |
C704* |
probably null |
Het |
| Col8a2 |
T |
A |
4: 126,204,908 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,016,193 (GRCm39) |
T17A |
probably benign |
Het |
| Cyp4f14 |
G |
A |
17: 33,135,853 (GRCm39) |
Q3* |
probably null |
Het |
| Cysltr2 |
A |
G |
14: 73,267,005 (GRCm39) |
I235T |
probably damaging |
Het |
| Esp34 |
C |
A |
17: 38,870,446 (GRCm39) |
C45* |
probably null |
Het |
| Gabrg2 |
T |
C |
11: 41,862,707 (GRCm39) |
K126E |
possibly damaging |
Het |
| Gm4846 |
A |
C |
1: 166,322,249 (GRCm39) |
|
probably null |
Het |
| Igsf21 |
T |
C |
4: 139,764,780 (GRCm39) |
N165S |
possibly damaging |
Het |
| Kcnf1 |
A |
G |
12: 17,225,994 (GRCm39) |
F76L |
probably benign |
Het |
| Kcns1 |
A |
G |
2: 164,010,177 (GRCm39) |
V194A |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,067 (GRCm39) |
Y1325C |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 93,004,014 (GRCm39) |
D156G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,335,731 (GRCm39) |
Y460H |
probably damaging |
Het |
| Myo15b |
G |
T |
11: 115,762,282 (GRCm39) |
E1201* |
probably null |
Het |
| Ndor1 |
A |
T |
2: 25,140,162 (GRCm39) |
I84K |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,476,819 (GRCm39) |
Y15N |
probably damaging |
Het |
| Or51af1 |
T |
C |
7: 103,141,840 (GRCm39) |
T82A |
probably benign |
Het |
| Or5ar1 |
A |
G |
2: 85,671,725 (GRCm39) |
S137P |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,424,347 (GRCm39) |
D317E |
possibly damaging |
Het |
| Ppp2r1a |
G |
A |
17: 21,171,609 (GRCm39) |
R28H |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc39a13 |
T |
C |
2: 90,895,247 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
| Taok1 |
A |
T |
11: 77,450,659 (GRCm39) |
L371H |
possibly damaging |
Het |
| Tas2r116 |
A |
G |
6: 132,833,230 (GRCm39) |
H277R |
probably damaging |
Het |
| Treml4 |
G |
A |
17: 48,571,837 (GRCm39) |
R80Q |
probably benign |
Het |
| Trim9 |
G |
A |
12: 70,393,126 (GRCm39) |
H273Y |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
| Vmn1r214 |
G |
A |
13: 23,219,520 (GRCm39) |
C338Y |
probably benign |
Het |
| Vmn2r52 |
G |
A |
7: 9,904,603 (GRCm39) |
T412I |
probably benign |
Het |
| Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
| Wdr93 |
T |
A |
7: 79,418,159 (GRCm39) |
V294E |
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 |
|
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 |
|
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'- ACAGTTGGAAGAGATGGCCTTATG -3'
(R):5'- GACAACTTCTGCTGCTTCAC -3'
Sequencing Primer
(F):5'- ATACAGCCTGATGTAGTAGTGC -3'
(R):5'- ACAACTTCTGCTGCTTCACTTTCTAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation