Incidental Mutation 'IGL01014:Ptpn14'
| ID |
53396 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptpn14
|
| Ensembl Gene |
ENSMUSG00000026604 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 14 |
| Synonyms |
C130080N23Rik, OTTMUSG00000022087, PTP36 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01014
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
189460465-189608892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 189554830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 130
(R130Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027898]
[ENSMUST00000097442]
|
| AlphaFold |
Q62130 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027898
AA Change: R130Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
AA Change: R130Q
| 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 damaging
Transcript: ENSMUST00000097442
AA Change: R130Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: R130Q
| 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: ENSMUST00000192214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194127
|
| Coding Region Coverage |
|
| 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 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra1 |
G |
A |
7: 139,455,576 (GRCm39) |
M401I |
probably benign |
Het |
| Adgra1 |
C |
T |
7: 139,455,577 (GRCm39) |
H402Y |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,400,381 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,018,683 (GRCm39) |
E1088G |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,361,960 (GRCm39) |
F722S |
possibly damaging |
Het |
| Arhgef39 |
G |
A |
4: 43,499,502 (GRCm39) |
R36C |
probably damaging |
Het |
| Art2a |
C |
A |
7: 101,204,115 (GRCm39) |
C141F |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,817,373 (GRCm39) |
F1380L |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,496,873 (GRCm39) |
N102K |
possibly damaging |
Het |
| Ccdc30 |
C |
A |
4: 119,250,776 (GRCm39) |
R22L |
possibly damaging |
Het |
| Ccdc74a |
A |
T |
16: 17,467,661 (GRCm39) |
T200S |
possibly damaging |
Het |
| Cd200 |
G |
A |
16: 45,215,063 (GRCm39) |
T196I |
probably benign |
Het |
| Cd244a |
A |
G |
1: 171,401,856 (GRCm39) |
Y194C |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,143,301 (GRCm39) |
T3009A |
probably damaging |
Het |
| Clec12b |
T |
A |
6: 129,362,393 (GRCm39) |
N21Y |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,145 (GRCm39) |
E788G |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,917,458 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,423,894 (GRCm39) |
N810I |
probably damaging |
Het |
| Dhx15 |
A |
T |
5: 52,309,266 (GRCm39) |
V719D |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,051,764 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,080,417 (GRCm39) |
I888T |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,708,055 (GRCm39) |
K666E |
probably damaging |
Het |
| Gnas |
C |
T |
2: 174,139,767 (GRCm39) |
|
probably benign |
Het |
| Lmntd2 |
T |
C |
7: 140,793,952 (GRCm39) |
Q7R |
probably damaging |
Het |
| Lmo7 |
G |
A |
14: 102,157,993 (GRCm39) |
|
probably benign |
Het |
| Lrrc55 |
A |
G |
2: 85,026,559 (GRCm39) |
I155T |
possibly damaging |
Het |
| Meis3 |
C |
T |
7: 15,912,872 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,742,187 (GRCm39) |
V334M |
probably damaging |
Het |
| Myo3a |
A |
G |
2: 22,337,284 (GRCm39) |
I386V |
probably benign |
Het |
| Neb |
C |
A |
2: 52,177,170 (GRCm39) |
M1390I |
probably benign |
Het |
| Nmd3 |
G |
A |
3: 69,633,719 (GRCm39) |
V69I |
probably benign |
Het |
| Nsmce3 |
G |
T |
7: 64,522,382 (GRCm39) |
D95E |
possibly damaging |
Het |
| Or4c12 |
T |
C |
2: 89,773,604 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or4f58 |
A |
G |
2: 111,851,477 (GRCm39) |
S241P |
probably damaging |
Het |
| Or5w16 |
T |
C |
2: 87,577,469 (GRCm39) |
F310L |
probably benign |
Het |
| Pde4d |
T |
C |
13: 110,086,036 (GRCm39) |
V538A |
probably damaging |
Het |
| Pgap6 |
T |
A |
17: 26,335,983 (GRCm39) |
|
probably benign |
Het |
| Plxnb1 |
A |
T |
9: 108,935,102 (GRCm39) |
H982L |
probably benign |
Het |
| Pold2 |
G |
T |
11: 5,822,293 (GRCm39) |
Q459K |
probably benign |
Het |
| Rnf10 |
A |
T |
5: 115,395,042 (GRCm39) |
L182Q |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 75,952,051 (GRCm39) |
D440N |
probably damaging |
Het |
| Tlcd1 |
G |
A |
11: 78,070,283 (GRCm39) |
|
probably null |
Het |
| Tpte |
A |
T |
8: 22,810,898 (GRCm39) |
Y185F |
probably benign |
Het |
|
| Other mutations in Ptpn14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R3895:Ptpn14
|
UTSW |
1 |
189,582,743 (GRCm39) |
missense |
probably benign |
0.31 |
|
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 |
|
|
| Posted On |
2013-06-28 |
Incidental Mutation