Incidental Mutation 'R1363:Ptpn14'
ID |
156348 |
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 |
039428-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1363 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
189460465-189608892 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 189530825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 97
(F97L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027898]
[ENSMUST00000097442]
|
AlphaFold |
Q62130 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027898
AA Change: F97L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027898 Gene: ENSMUSG00000026604 AA Change: F97L
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: F97L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095051 Gene: ENSMUSG00000026604 AA Change: F97L
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: ENSMUST00000194127
|
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.9%
|
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc88b |
T |
A |
19: 6,827,739 (GRCm39) |
Y921F |
possibly damaging |
Het |
Cct7 |
G |
T |
6: 85,443,017 (GRCm39) |
D265Y |
probably damaging |
Het |
Cdc14a |
CGCTGCTGCTGCTGCTGCTG |
CGCTGCTGCTGCTGCTG |
3: 116,087,509 (GRCm39) |
|
probably benign |
Het |
Csf1r |
A |
G |
18: 61,257,917 (GRCm39) |
M629V |
possibly damaging |
Het |
Dlk1 |
G |
T |
12: 109,421,430 (GRCm39) |
G48V |
probably damaging |
Het |
Fancc |
T |
C |
13: 63,509,412 (GRCm39) |
Y60C |
probably damaging |
Het |
Ifi204 |
C |
T |
1: 173,576,862 (GRCm39) |
V580I |
probably benign |
Het |
Irs1 |
A |
G |
1: 82,265,009 (GRCm39) |
V1069A |
probably benign |
Het |
Plxna2 |
C |
T |
1: 194,487,247 (GRCm39) |
Q1601* |
probably null |
Het |
Psmg2 |
CTTCAGTT |
CTTCAGTTCAGTT |
18: 67,779,095 (GRCm39) |
|
probably null |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rnf6 |
A |
T |
5: 146,148,369 (GRCm39) |
F216L |
probably benign |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Scyl3 |
A |
G |
1: 163,778,259 (GRCm39) |
I466V |
probably benign |
Het |
Slc7a11 |
T |
C |
3: 50,378,500 (GRCm39) |
Y246C |
probably damaging |
Het |
Stk33 |
A |
T |
7: 108,879,028 (GRCm39) |
S440R |
probably benign |
Het |
Ttbk2 |
T |
C |
2: 120,637,389 (GRCm39) |
|
probably null |
Het |
Vmn2r105 |
T |
A |
17: 20,428,932 (GRCm39) |
T715S |
probably benign |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGTCCCACGCTGGGAAAGAGAAG -3'
(R):5'- ATGACTGTCGCATGGCAACAGG -3'
Sequencing Primer
(F):5'- TCAGGCTTCTGATGACACAG -3'
(R):5'- GCATGGCAACAGGCAGAC -3'
|
Posted On |
2014-02-11 |