Incidental Mutation 'R3895:Ptpn14'
| ID |
310479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn14
|
| Ensembl Gene |
ENSMUSG00000026604 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 14 |
| Synonyms |
C130080N23Rik, OTTMUSG00000022087, PTP36 |
| MMRRC Submission |
040806-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3895 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
189460465-189608892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 189582743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 530
(A530V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027898]
[ENSMUST00000097442]
|
| AlphaFold |
Q62130 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027898
|
| SMART Domains |
Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
17 |
220 |
3.7e-67 |
SMART |
|
FERM_C
|
224 |
310 |
3.43e-15 |
SMART |
|
low complexity region
|
565 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
710 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
834 |
N/A |
INTRINSIC |
|
PTPc
|
910 |
1184 |
2.14e-103 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097442
AA Change: A530V
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: A530V
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
17 |
220 |
3.7e-67 |
SMART |
|
FERM_C
|
224 |
310 |
3.43e-15 |
SMART |
|
low complexity region
|
565 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
710 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
834 |
N/A |
INTRINSIC |
|
PTPc
|
910 |
1184 |
2.14e-103 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195038
|
| Meta Mutation Damage Score |
0.0818 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
96% (45/47) |
| 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, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit some postnatal growth retardation, decreased body weight, periorbital and limb edema, and lymphatic vessel hyperplasia. [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 |
|---|
| Acoxl |
T |
C |
2: 127,814,445 (GRCm39) |
|
probably benign |
Het |
| C6 |
T |
C |
15: 4,837,952 (GRCm39) |
V854A |
probably benign |
Het |
| Ccnd1 |
T |
C |
7: 144,491,631 (GRCm39) |
E136G |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,840,441 (GRCm39) |
F422I |
probably benign |
Het |
| Csta1 |
T |
C |
16: 35,951,402 (GRCm39) |
T7A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,028,865 (GRCm39) |
E23G |
probably benign |
Het |
| Fbxo8 |
A |
T |
8: 57,044,556 (GRCm39) |
R286S |
probably damaging |
Het |
| Gm12258 |
T |
G |
11: 58,749,375 (GRCm39) |
Y183* |
probably null |
Het |
| Gvin-ps6 |
T |
A |
7: 106,022,621 (GRCm39) |
H127L |
probably damaging |
Het |
| Hectd3 |
A |
G |
4: 116,853,286 (GRCm39) |
D171G |
probably damaging |
Het |
| Hoxd11 |
C |
T |
2: 74,513,136 (GRCm39) |
R134W |
probably damaging |
Het |
| Ighg2c |
T |
C |
12: 113,251,278 (GRCm39) |
T246A |
unknown |
Het |
| Ints6 |
T |
C |
14: 62,934,060 (GRCm39) |
I816V |
probably damaging |
Het |
| Lrp4 |
G |
A |
2: 91,304,294 (GRCm39) |
G158S |
probably damaging |
Het |
| Mast1 |
G |
A |
8: 85,662,352 (GRCm39) |
P52L |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,899,388 (GRCm39) |
D2148G |
probably null |
Het |
| Med24 |
A |
G |
11: 98,597,214 (GRCm39) |
S889P |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,736,054 (GRCm39) |
M851K |
probably damaging |
Het |
| Mkln1 |
T |
A |
6: 31,484,602 (GRCm39) |
L710H |
probably damaging |
Het |
| Morf4l1 |
A |
T |
9: 89,976,501 (GRCm39) |
F276I |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,461,863 (GRCm39) |
S574R |
probably damaging |
Het |
| Nol11 |
C |
A |
11: 107,059,173 (GRCm39) |
V644F |
probably damaging |
Het |
| Nusap1 |
C |
A |
2: 119,458,172 (GRCm39) |
Q103K |
possibly damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
| Pcdh9 |
C |
T |
14: 94,124,974 (GRCm39) |
V399M |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,102,006 (GRCm39) |
S359P |
probably benign |
Het |
| Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
| Rho |
A |
G |
6: 115,910,863 (GRCm39) |
Y136C |
probably damaging |
Het |
| Rps3 |
C |
T |
7: 99,129,103 (GRCm39) |
R173H |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,551,504 (GRCm39) |
N564D |
probably damaging |
Het |
| Sart3 |
G |
A |
5: 113,890,488 (GRCm39) |
R452* |
probably null |
Het |
| Sbf2 |
T |
C |
7: 110,046,298 (GRCm39) |
I300V |
probably damaging |
Het |
| Sgo2b |
A |
T |
8: 64,381,767 (GRCm39) |
V355E |
possibly damaging |
Het |
| Slc22a5 |
T |
C |
11: 53,756,651 (GRCm39) |
K553R |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,355,456 (GRCm39) |
V375A |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,516,804 (GRCm39) |
E28G |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,818,786 (GRCm39) |
K1292R |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,995,890 (GRCm39) |
T108A |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,840,805 (GRCm39) |
H15Q |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,280,596 (GRCm39) |
S208P |
possibly damaging |
Het |
|
| Other mutations in Ptpn14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Ptpn14
|
APN |
1 |
189,554,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02501:Ptpn14
|
APN |
1 |
189,582,587 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03011:Ptpn14
|
APN |
1 |
189,571,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
jelly
|
UTSW |
1 |
189,554,872 (GRCm39) |
nonsense |
probably null |
|
|
Rubens
|
UTSW |
1 |
189,564,997 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0724:Ptpn14
|
UTSW |
1 |
189,583,144 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0791:Ptpn14
|
UTSW |
1 |
189,568,637 (GRCm39) |
splice site |
probably benign |
|
|
R1363:Ptpn14
|
UTSW |
1 |
189,530,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Ptpn14
|
UTSW |
1 |
189,597,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1840:Ptpn14
|
UTSW |
1 |
189,519,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1845:Ptpn14
|
UTSW |
1 |
189,571,699 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1891:Ptpn14
|
UTSW |
1 |
189,530,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2187:Ptpn14
|
UTSW |
1 |
189,595,425 (GRCm39) |
nonsense |
probably null |
|
|
R2288:Ptpn14
|
UTSW |
1 |
189,597,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3686:Ptpn14
|
UTSW |
1 |
189,583,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3898:Ptpn14
|
UTSW |
1 |
189,582,728 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4004:Ptpn14
|
UTSW |
1 |
189,582,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4816:Ptpn14
|
UTSW |
1 |
189,588,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Ptpn14
|
UTSW |
1 |
189,582,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4928:Ptpn14
|
UTSW |
1 |
189,554,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4931:Ptpn14
|
UTSW |
1 |
189,583,474 (GRCm39) |
missense |
probably benign |
|
|
R4957:Ptpn14
|
UTSW |
1 |
189,583,469 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5009:Ptpn14
|
UTSW |
1 |
189,582,731 (GRCm39) |
missense |
probably benign |
|
|
R5038:Ptpn14
|
UTSW |
1 |
189,519,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5264:Ptpn14
|
UTSW |
1 |
189,564,997 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5373:Ptpn14
|
UTSW |
1 |
189,583,160 (GRCm39) |
missense |
probably benign |
|
|
R5441:Ptpn14
|
UTSW |
1 |
189,530,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5540:Ptpn14
|
UTSW |
1 |
189,578,561 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5638:Ptpn14
|
UTSW |
1 |
189,519,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5746:Ptpn14
|
UTSW |
1 |
189,578,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5872:Ptpn14
|
UTSW |
1 |
189,583,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5988:Ptpn14
|
UTSW |
1 |
189,582,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Ptpn14
|
UTSW |
1 |
189,583,362 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6295:Ptpn14
|
UTSW |
1 |
189,582,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6770:Ptpn14
|
UTSW |
1 |
189,564,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7097:Ptpn14
|
UTSW |
1 |
189,595,595 (GRCm39) |
nonsense |
probably null |
|
|
R7320:Ptpn14
|
UTSW |
1 |
189,564,956 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7324:Ptpn14
|
UTSW |
1 |
189,595,621 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7599:Ptpn14
|
UTSW |
1 |
189,582,942 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7699:Ptpn14
|
UTSW |
1 |
189,597,608 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7700:Ptpn14
|
UTSW |
1 |
189,597,608 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8379:Ptpn14
|
UTSW |
1 |
189,565,598 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8889:Ptpn14
|
UTSW |
1 |
189,554,872 (GRCm39) |
nonsense |
probably null |
|
|
R9659:Ptpn14
|
UTSW |
1 |
189,587,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9719:Ptpn14
|
UTSW |
1 |
189,583,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Ptpn14
|
UTSW |
1 |
189,592,667 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCTCTGCGTAACCTCAATATC -3'
(R):5'- TTACCAGATCAGGGCTGCTG -3'
Sequencing Primer
(F):5'- TCTGCGTAACCTCAATATCATCAAC -3'
(R):5'- TGCCGCTGACGTACTTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation