Incidental Mutation 'R9707:Ptpn12'
| ID |
729840 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9707 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21191643-21260909 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21207620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 279
(T279S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030556]
[ENSMUST00000151813]
[ENSMUST00000199774]
|
| AlphaFold |
P35831 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030556
AA Change: T279S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030556
Gene: ENSMUSG00000028771
AA Change: T279S
| 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: 99.7%
- 20x: 99.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambra1 |
G |
A |
2: 91,640,476 (GRCm39) |
R635H |
probably damaging |
Het |
| Amz1 |
T |
C |
5: 140,733,949 (GRCm39) |
V175A |
possibly damaging |
Het |
| Arsj |
T |
C |
3: 126,232,160 (GRCm39) |
I302T |
possibly damaging |
Het |
| Asxl3 |
A |
G |
18: 22,656,304 (GRCm39) |
E1438G |
probably benign |
Het |
| BC016579 |
C |
T |
16: 45,460,760 (GRCm39) |
E103K |
probably damaging |
Het |
| Ccdc54 |
T |
A |
16: 50,411,163 (GRCm39) |
K34N |
possibly damaging |
Het |
| Chac2 |
T |
C |
11: 30,929,572 (GRCm39) |
D55G |
possibly damaging |
Het |
| Cts3 |
T |
A |
13: 61,714,649 (GRCm39) |
I219F |
possibly damaging |
Het |
| Des |
A |
G |
1: 75,337,533 (GRCm39) |
M158V |
possibly damaging |
Het |
| Dohh |
T |
C |
10: 81,223,565 (GRCm39) |
F206S |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,228,934 (GRCm39) |
S2176P |
probably benign |
Het |
| Ecpas |
C |
T |
4: 58,824,816 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
G |
A |
10: 25,378,235 (GRCm39) |
V836M |
probably damaging |
Het |
| Foxc1 |
A |
T |
13: 31,991,882 (GRCm39) |
E231V |
probably damaging |
Het |
| Ighd |
T |
A |
12: 113,378,108 (GRCm39) |
N164Y |
|
Het |
| Ighv1-53 |
A |
T |
12: 115,122,035 (GRCm39) |
Y113* |
probably null |
Het |
| Ildr1 |
A |
G |
16: 36,529,892 (GRCm39) |
D93G |
probably damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,408,414 (GRCm39) |
E1754G |
probably benign |
Het |
| Mbd4 |
T |
A |
6: 115,826,559 (GRCm39) |
H144L |
probably benign |
Het |
| Mcm7 |
C |
A |
5: 138,170,000 (GRCm39) |
A7S |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,794,605 (GRCm39) |
N532K |
possibly damaging |
Het |
| Msr1 |
T |
G |
8: 40,076,988 (GRCm39) |
E207D |
probably benign |
Het |
| Neurl4 |
A |
T |
11: 69,799,679 (GRCm39) |
D994V |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,090 (GRCm39) |
V76A |
possibly damaging |
Het |
| Or6c69b |
T |
C |
10: 129,627,444 (GRCm39) |
T5A |
probably damaging |
Het |
| Or8s5 |
C |
T |
15: 98,238,154 (GRCm39) |
V239I |
probably benign |
Het |
| Pcdhgb6 |
T |
C |
18: 37,876,768 (GRCm39) |
I492T |
possibly damaging |
Het |
| Pde4c |
A |
G |
8: 71,202,701 (GRCm39) |
D669G |
probably benign |
Het |
| Phf3 |
C |
A |
1: 30,868,923 (GRCm39) |
|
probably null |
Het |
| Rbbp6 |
A |
T |
7: 122,589,061 (GRCm39) |
T287S |
probably damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,851,186 (GRCm39) |
N192S |
probably benign |
Het |
| Slc46a3 |
G |
T |
5: 147,821,022 (GRCm39) |
H377N |
probably benign |
Het |
| Smg9 |
G |
T |
7: 24,102,869 (GRCm39) |
R16L |
probably damaging |
Het |
| Spmip2 |
A |
G |
3: 79,313,167 (GRCm39) |
I80M |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,758,300 (GRCm39) |
V848A |
possibly damaging |
Het |
| Taf7 |
A |
T |
18: 37,776,053 (GRCm39) |
S171R |
probably damaging |
Het |
| Trav7-3 |
A |
G |
14: 53,681,189 (GRCm39) |
E77G |
probably benign |
Het |
| Usp16 |
T |
C |
16: 87,263,235 (GRCm39) |
S146P |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,890 (GRCm39) |
I29K |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,664,328 (GRCm39) |
C486R |
probably damaging |
Het |
| Zfp329 |
T |
C |
7: 12,544,129 (GRCm39) |
Q465R |
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 |
|
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 |
|
X0004:Ptpn12
|
UTSW |
5 |
21,224,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATCAGCGATCTTCTGTGC -3'
(R):5'- TGCAGCACTGTCTGTCTTTG -3'
Sequencing Primer
(F):5'- CTGTGCTCCATGAATTTCATACAG -3'
(R):5'- CAGCACTGTCTGTCTTTGTCTGATAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation