Incidental Mutation 'R5373:Ptpn14'
ID |
428844 |
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 |
042949-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5373 (G1)
|
Quality Score |
174 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
189460465-189608892 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 189583160 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 669
(M669T)
|
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: M669T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095051 Gene: ENSMUSG00000026604 AA Change: M669T
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 |
0.0589 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
96% (74/77) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,773,396 (GRCm39) |
S862G |
probably benign |
Het |
Abcb5 |
G |
T |
12: 118,850,912 (GRCm39) |
T887K |
probably damaging |
Het |
Adgrf1 |
G |
A |
17: 43,601,896 (GRCm39) |
|
probably benign |
Het |
Adss2 |
T |
G |
1: 177,623,954 (GRCm39) |
I3L |
probably benign |
Het |
Anapc7 |
T |
A |
5: 122,576,280 (GRCm39) |
D302E |
probably benign |
Het |
Ank3 |
A |
G |
10: 69,789,306 (GRCm39) |
|
probably null |
Het |
Arpp21 |
T |
G |
9: 111,896,336 (GRCm39) |
M687L |
probably benign |
Het |
Camkv |
T |
C |
9: 107,824,088 (GRCm39) |
S221P |
probably benign |
Het |
Ccdc88a |
C |
T |
11: 29,413,409 (GRCm39) |
T649M |
possibly damaging |
Het |
Cdh12 |
A |
C |
15: 21,583,998 (GRCm39) |
S613R |
probably damaging |
Het |
Chsy1 |
C |
T |
7: 65,759,824 (GRCm39) |
Q56* |
probably null |
Het |
Cisd2 |
A |
G |
3: 135,114,596 (GRCm39) |
V125A |
probably benign |
Het |
Cntnap2 |
T |
A |
6: 47,084,903 (GRCm39) |
H1121Q |
probably benign |
Het |
Corin |
A |
T |
5: 72,462,296 (GRCm39) |
C876S |
probably damaging |
Het |
Cplane1 |
T |
C |
15: 8,300,287 (GRCm39) |
V3198A |
unknown |
Het |
Cspp1 |
T |
G |
1: 10,204,351 (GRCm39) |
L1038R |
probably damaging |
Het |
Cwc15 |
A |
G |
9: 14,416,234 (GRCm39) |
K147E |
possibly damaging |
Het |
Dlgap2 |
A |
G |
8: 14,873,614 (GRCm39) |
D739G |
probably benign |
Het |
Dmxl2 |
A |
G |
9: 54,276,473 (GRCm39) |
|
probably benign |
Het |
Dnajc6 |
T |
C |
4: 101,472,824 (GRCm39) |
I317T |
probably damaging |
Het |
Dpysl3 |
T |
C |
18: 43,494,101 (GRCm39) |
Y193C |
probably damaging |
Het |
Dtna |
T |
C |
18: 23,784,670 (GRCm39) |
Y730H |
probably damaging |
Het |
Dusp3 |
A |
G |
11: 101,875,451 (GRCm39) |
Y38H |
possibly damaging |
Het |
Eif3m |
A |
T |
2: 104,843,277 (GRCm39) |
I151N |
probably damaging |
Het |
Eml2 |
A |
T |
7: 18,913,188 (GRCm39) |
D62V |
possibly damaging |
Het |
Epb41l3 |
C |
A |
17: 69,593,795 (GRCm39) |
H810N |
probably damaging |
Het |
Evc2 |
C |
T |
5: 37,535,554 (GRCm39) |
R410W |
probably damaging |
Het |
Fam169b |
T |
C |
7: 67,950,586 (GRCm39) |
Y13H |
probably damaging |
Het |
Fcrl5 |
A |
G |
3: 87,353,698 (GRCm39) |
T348A |
probably benign |
Het |
Fezf2 |
A |
T |
14: 12,344,803 (GRCm38) |
V128E |
possibly damaging |
Het |
Ighv3-5 |
A |
G |
12: 114,226,573 (GRCm39) |
S18P |
probably damaging |
Het |
Kcnq5 |
T |
A |
1: 22,031,795 (GRCm39) |
H4L |
unknown |
Het |
Kdm5d |
C |
T |
Y: 927,995 (GRCm39) |
P756S |
probably benign |
Het |
Lig1 |
AG |
A |
7: 13,039,849 (GRCm39) |
|
probably null |
Het |
Ly75 |
A |
T |
2: 60,142,115 (GRCm39) |
L1332M |
possibly damaging |
Het |
Med1 |
T |
A |
11: 98,054,789 (GRCm39) |
K378N |
probably damaging |
Het |
Mn1 |
A |
G |
5: 111,569,752 (GRCm39) |
|
probably null |
Het |
Mpo |
T |
C |
11: 87,694,437 (GRCm39) |
|
probably null |
Het |
Mtfr2 |
G |
T |
10: 20,228,598 (GRCm39) |
C48F |
probably benign |
Het |
Nt5c |
G |
A |
11: 115,381,643 (GRCm39) |
|
probably null |
Het |
Pcdhga4 |
T |
C |
18: 37,818,649 (GRCm39) |
V66A |
probably damaging |
Het |
Pik3c3 |
T |
C |
18: 30,445,614 (GRCm39) |
S534P |
probably benign |
Het |
Pla2g4e |
A |
T |
2: 120,016,876 (GRCm39) |
C222S |
probably benign |
Het |
Plch1 |
A |
C |
3: 63,605,499 (GRCm39) |
H1468Q |
probably benign |
Het |
Psd2 |
T |
A |
18: 36,140,556 (GRCm39) |
W610R |
probably damaging |
Het |
Ptgs1 |
A |
T |
2: 36,141,198 (GRCm39) |
K548N |
probably damaging |
Het |
Ptprf |
G |
T |
4: 118,083,238 (GRCm39) |
T923K |
possibly damaging |
Het |
Ptprg |
A |
G |
14: 12,213,665 (GRCm38) |
N1011S |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,007,354 (GRCm39) |
V1639E |
probably damaging |
Het |
Rgsl1 |
C |
T |
1: 153,666,053 (GRCm39) |
V986I |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Rxfp2 |
A |
G |
5: 149,993,725 (GRCm39) |
T596A |
probably benign |
Het |
Serpina3j |
A |
G |
12: 104,280,986 (GRCm39) |
D53G |
probably damaging |
Het |
Slc26a7 |
A |
T |
4: 14,546,447 (GRCm39) |
I294N |
probably damaging |
Het |
Slirp |
T |
C |
12: 87,496,192 (GRCm39) |
S96P |
possibly damaging |
Het |
Snx6 |
T |
C |
12: 54,817,513 (GRCm39) |
E128G |
probably damaging |
Het |
Spata6 |
T |
A |
4: 111,680,031 (GRCm39) |
|
probably null |
Het |
Stap1 |
A |
G |
5: 86,238,787 (GRCm39) |
T152A |
possibly damaging |
Het |
Susd5 |
G |
A |
9: 113,911,653 (GRCm39) |
G188R |
probably damaging |
Het |
Thap2 |
A |
T |
10: 115,208,744 (GRCm39) |
Y125* |
probably null |
Het |
Tnrc18 |
G |
A |
5: 142,725,911 (GRCm39) |
R1793C |
unknown |
Het |
Ugt1a10 |
T |
A |
1: 87,983,632 (GRCm39) |
D143E |
probably damaging |
Het |
Vmn1r85 |
A |
T |
7: 12,818,255 (GRCm39) |
Y296* |
probably null |
Het |
Vmn2r71 |
C |
T |
7: 85,267,750 (GRCm39) |
T68I |
possibly damaging |
Het |
Zc3h6 |
A |
T |
2: 128,844,076 (GRCm39) |
I207F |
possibly damaging |
Het |
Zfp518a |
T |
C |
19: 40,901,954 (GRCm39) |
S628P |
probably benign |
Het |
Zfp85 |
T |
C |
13: 67,897,577 (GRCm39) |
Y165C |
probably damaging |
Het |
Zup1 |
T |
C |
10: 33,803,462 (GRCm39) |
N541D |
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 |
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 |
|
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'- AGGTGCAGCTCTCCGTAAAG -3'
(R):5'- TTCTACTTTCTCTCGAAGCACAGG -3'
Sequencing Primer
(F):5'- TCCGTAAAGACCTTCCAGGAGG -3'
(R):5'- TCTCGAAGCACAGGAACCTGAG -3'
|
Posted On |
2016-09-06 |