Incidental Mutation 'R4931:Ptpn14'
ID |
380538 |
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 |
042532-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4931 (G1)
|
Quality Score |
191 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
189460465-189608892 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 189583474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Valine
at position 774
(L774V)
|
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: L774V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095051 Gene: ENSMUSG00000026604 AA Change: L774V
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
95% (78/82) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004B18Rik |
A |
G |
3: 145,643,875 (GRCm39) |
D21G |
probably benign |
Het |
4930562C15Rik |
T |
C |
16: 4,678,910 (GRCm39) |
L68P |
possibly damaging |
Het |
Ache |
A |
G |
5: 137,290,176 (GRCm39) |
I414V |
probably benign |
Het |
Acy1 |
G |
A |
9: 106,310,390 (GRCm39) |
H308Y |
probably damaging |
Het |
Aldh1b1 |
A |
C |
4: 45,803,661 (GRCm39) |
I400L |
probably benign |
Het |
Ankrd40 |
T |
A |
11: 94,225,647 (GRCm39) |
L226Q |
probably benign |
Het |
B3gnt9 |
T |
C |
8: 105,980,876 (GRCm39) |
T171A |
probably benign |
Het |
Ccdc33 |
T |
C |
9: 57,977,134 (GRCm39) |
Y289C |
probably damaging |
Het |
Cd209f |
A |
T |
8: 4,153,688 (GRCm39) |
I187N |
probably damaging |
Het |
Cers6 |
T |
G |
2: 68,935,456 (GRCm39) |
S319A |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 180,670,665 (GRCm39) |
S364P |
probably benign |
Het |
Chrnb3 |
T |
C |
8: 27,884,258 (GRCm39) |
S317P |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,908,774 (GRCm39) |
V1129A |
probably benign |
Het |
Dhx9 |
G |
A |
1: 153,348,419 (GRCm39) |
P302L |
probably benign |
Het |
Dnaaf9 |
A |
G |
2: 130,583,793 (GRCm39) |
F496L |
possibly damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Duox2 |
T |
C |
2: 122,127,236 (GRCm39) |
N147S |
probably benign |
Het |
Dytn |
T |
G |
1: 63,672,837 (GRCm39) |
E522A |
probably benign |
Het |
E130114P18Rik |
T |
C |
4: 97,608,524 (GRCm39) |
D27G |
unknown |
Het |
Egf |
A |
G |
3: 129,505,117 (GRCm39) |
F118S |
probably damaging |
Het |
Eif2d |
T |
A |
1: 131,082,128 (GRCm39) |
F73L |
probably damaging |
Het |
Eps8l1 |
A |
G |
7: 4,474,240 (GRCm39) |
E237G |
possibly damaging |
Het |
Espl1 |
A |
G |
15: 102,214,165 (GRCm39) |
E664G |
probably benign |
Het |
Fbrsl1 |
A |
T |
5: 110,526,895 (GRCm39) |
S373T |
possibly damaging |
Het |
Fras1 |
T |
A |
5: 96,784,699 (GRCm39) |
F894Y |
probably benign |
Het |
Gpatch8 |
T |
C |
11: 102,372,050 (GRCm39) |
E496G |
unknown |
Het |
Gucy1a2 |
A |
G |
9: 3,759,588 (GRCm39) |
K465E |
probably damaging |
Het |
Igdcc4 |
A |
G |
9: 65,031,297 (GRCm39) |
T459A |
possibly damaging |
Het |
Itgad |
A |
T |
7: 127,803,797 (GRCm39) |
I64F |
probably damaging |
Het |
Itgb2l |
T |
A |
16: 96,238,649 (GRCm39) |
N50I |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,962,531 (GRCm39) |
I478T |
probably damaging |
Het |
Krt31 |
G |
A |
11: 99,940,983 (GRCm39) |
T109I |
probably benign |
Het |
Ltbr |
G |
T |
6: 125,284,437 (GRCm39) |
|
probably null |
Het |
Magel2 |
A |
G |
7: 62,030,372 (GRCm39) |
D1092G |
unknown |
Het |
Minar1 |
T |
C |
9: 89,483,705 (GRCm39) |
H564R |
probably benign |
Het |
Mindy3 |
A |
T |
2: 12,401,024 (GRCm39) |
N231K |
probably damaging |
Het |
Mpnd |
T |
G |
17: 56,319,362 (GRCm39) |
|
probably benign |
Het |
Mtus2 |
C |
T |
5: 148,014,226 (GRCm39) |
L340F |
probably benign |
Het |
Nanog |
G |
A |
6: 122,684,865 (GRCm39) |
A17T |
possibly damaging |
Het |
Ndufa9 |
G |
T |
6: 126,813,283 (GRCm39) |
A181E |
probably damaging |
Het |
Or52z14 |
T |
G |
7: 103,253,581 (GRCm39) |
L240R |
probably benign |
Het |
Or7e175 |
A |
T |
9: 20,048,858 (GRCm39) |
I149F |
probably benign |
Het |
Pprc1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
19: 46,059,755 (GRCm39) |
|
probably benign |
Het |
Pramel18 |
T |
C |
4: 101,766,367 (GRCm39) |
V17A |
possibly damaging |
Het |
Prkacb |
T |
C |
3: 146,453,732 (GRCm39) |
I211V |
possibly damaging |
Het |
Rad1 |
T |
C |
15: 10,492,848 (GRCm39) |
|
probably benign |
Het |
Rims1 |
G |
T |
1: 22,573,028 (GRCm39) |
P391Q |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Sf3b3 |
C |
T |
8: 111,542,961 (GRCm39) |
R832Q |
probably benign |
Het |
Slc12a2 |
A |
G |
18: 58,068,035 (GRCm39) |
D975G |
possibly damaging |
Het |
Slitrk6 |
A |
G |
14: 110,987,811 (GRCm39) |
L632P |
probably damaging |
Het |
Spire2 |
A |
G |
8: 124,095,523 (GRCm39) |
D542G |
possibly damaging |
Het |
Sppl3 |
A |
T |
5: 115,220,373 (GRCm39) |
Q95L |
probably damaging |
Het |
Stat5b |
C |
A |
11: 100,675,080 (GRCm39) |
E710* |
probably null |
Het |
Tcl1 |
G |
T |
12: 105,188,872 (GRCm39) |
H14N |
probably damaging |
Het |
Ten1 |
T |
C |
11: 116,096,555 (GRCm39) |
F70L |
probably benign |
Het |
Tnfrsf13b |
A |
T |
11: 61,031,763 (GRCm39) |
T35S |
possibly damaging |
Het |
Tpcn2 |
G |
A |
7: 144,821,046 (GRCm39) |
P336L |
probably benign |
Het |
Trf |
C |
A |
9: 103,105,247 (GRCm39) |
D22Y |
probably damaging |
Het |
Ttyh1 |
A |
G |
7: 4,136,943 (GRCm39) |
|
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,032,031 (GRCm39) |
I602F |
probably benign |
Het |
Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
Zfp352 |
A |
G |
4: 90,112,541 (GRCm39) |
Y227C |
probably damaging |
Het |
Zfp599 |
A |
T |
9: 22,169,419 (GRCm39) |
W18R |
probably 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 |
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'- CATTCTCGGATGCCACCATG -3'
(R):5'- GAGAACATCTCTGACACCGG -3'
Sequencing Primer
(F):5'- TCGGATGCCACCATGCTGATC -3'
(R):5'- ACCGGCCTTTCCTTCACAGG -3'
|
Posted On |
2016-04-15 |