Incidental Mutation 'R7732:Ptpn4'
ID |
595881 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptpn4
|
Ensembl Gene |
ENSMUSG00000026384 |
Gene Name |
protein tyrosine phosphatase, non-receptor type 4 |
Synonyms |
testis-enriched phosphatase, protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte), hPTP-MEG, TEP, PTPMEG, TEP/mPTPMEG |
MMRRC Submission |
045788-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.291)
|
Stock # |
R7732 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 119620532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 488
(V488G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000163435]
|
AlphaFold |
Q9WU22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064091
AA Change: V488G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000067614 Gene: ENSMUSG00000026384 AA Change: V488G
Domain | Start | End | E-Value | Type |
B41
|
25 |
222 |
7.33e-80 |
SMART |
FERM_C
|
226 |
316 |
6.48e-34 |
SMART |
FA
|
322 |
368 |
3.28e-12 |
SMART |
PDZ
|
526 |
605 |
2.47e-14 |
SMART |
PTPc
|
654 |
913 |
1.38e-120 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163435
AA Change: V488G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127713 Gene: ENSMUSG00000026384 AA Change: V488G
Domain | Start | End | E-Value | Type |
B41
|
25 |
222 |
7.33e-80 |
SMART |
FERM_C
|
226 |
316 |
6.48e-34 |
SMART |
FA
|
322 |
368 |
3.28e-12 |
SMART |
PDB:3NFL|D
|
499 |
552 |
4e-30 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164269
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (73/73) |
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 protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele exhibit impaired coordination, abnormal eye blink conditioning behavior, and reduced long term depression. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
A |
T |
15: 91,075,451 (GRCm39) |
S121T |
possibly damaging |
Het |
Alpk1 |
T |
C |
3: 127,478,041 (GRCm39) |
M69V |
|
Het |
Ap3m2 |
G |
T |
8: 23,287,105 (GRCm39) |
D192E |
probably benign |
Het |
Arel1 |
A |
G |
12: 84,974,663 (GRCm39) |
V493A |
probably benign |
Het |
Arhgap27 |
T |
C |
11: 103,230,869 (GRCm39) |
H140R |
probably benign |
Het |
Bcat2 |
C |
T |
7: 45,234,617 (GRCm39) |
T166M |
possibly damaging |
Het |
Brd4 |
C |
A |
17: 32,440,386 (GRCm39) |
A318S |
unknown |
Het |
Cabp4 |
T |
A |
19: 4,185,994 (GRCm39) |
T270S |
probably benign |
Het |
Cd22 |
G |
A |
7: 30,569,482 (GRCm39) |
R545C |
probably damaging |
Het |
Cdc23 |
C |
A |
18: 34,769,755 (GRCm39) |
|
probably null |
Het |
Chst4 |
G |
A |
8: 110,756,514 (GRCm39) |
Q450* |
probably null |
Het |
Ctsc |
G |
A |
7: 87,946,367 (GRCm39) |
R132Q |
probably damaging |
Het |
Cyp2b19 |
A |
G |
7: 26,470,769 (GRCm39) |
D470G |
possibly damaging |
Het |
Dcc |
C |
T |
18: 71,579,506 (GRCm39) |
G689D |
probably benign |
Het |
Disc1 |
G |
T |
8: 125,977,714 (GRCm39) |
G779* |
probably null |
Het |
Dock1 |
T |
G |
7: 134,346,699 (GRCm39) |
D210E |
probably benign |
Het |
Dynlt1a |
A |
G |
17: 6,365,220 (GRCm39) |
V14A |
probably benign |
Het |
Dynlt2a3 |
A |
G |
17: 15,187,947 (GRCm39) |
V109A |
probably benign |
Het |
Epha10 |
A |
G |
4: 124,809,092 (GRCm39) |
D779G |
|
Het |
Eprs1 |
A |
G |
1: 185,105,136 (GRCm39) |
H137R |
probably benign |
Het |
Eps15l1 |
A |
C |
8: 73,134,820 (GRCm39) |
L447R |
probably damaging |
Het |
Esyt1 |
A |
G |
10: 128,357,694 (GRCm39) |
|
probably null |
Het |
Fam221a |
A |
G |
6: 49,349,563 (GRCm39) |
K43E |
probably benign |
Het |
Fanci |
A |
G |
7: 79,062,400 (GRCm39) |
S309G |
possibly damaging |
Het |
Fbxo48 |
T |
A |
11: 16,903,601 (GRCm39) |
W76R |
probably damaging |
Het |
Fgd4 |
A |
G |
16: 16,302,459 (GRCm39) |
V32A |
probably benign |
Het |
Foxe1 |
A |
T |
4: 46,345,287 (GRCm39) |
D365V |
unknown |
Het |
Gabrd |
C |
T |
4: 155,470,075 (GRCm39) |
R378H |
probably benign |
Het |
Greb1 |
A |
G |
12: 16,723,864 (GRCm39) |
S1862P |
probably damaging |
Het |
H2al2b |
T |
C |
Y: 2,720,436 (GRCm39) |
H80R |
possibly damaging |
Het |
Hectd4 |
T |
C |
5: 121,474,692 (GRCm39) |
V2771A |
probably benign |
Het |
Hoxa11 |
A |
T |
6: 52,220,415 (GRCm39) |
F289L |
probably damaging |
Het |
Hsp90aa1 |
A |
G |
12: 110,659,852 (GRCm39) |
V412A |
probably damaging |
Het |
Igsf11 |
A |
G |
16: 38,829,160 (GRCm39) |
Q77R |
probably damaging |
Het |
Lrig1 |
C |
A |
6: 94,603,358 (GRCm39) |
M263I |
probably benign |
Het |
Ms4a14 |
C |
T |
19: 11,279,047 (GRCm39) |
M1170I |
probably benign |
Het |
Ndufs7 |
G |
A |
10: 80,089,618 (GRCm39) |
|
probably null |
Het |
Nectin4 |
A |
T |
1: 171,214,246 (GRCm39) |
E467V |
probably benign |
Het |
Or8d1b |
A |
G |
9: 38,887,560 (GRCm39) |
E196G |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,642,525 (GRCm39) |
H1302Y |
probably benign |
Het |
Pigg |
A |
G |
5: 108,466,841 (GRCm39) |
S241G |
probably benign |
Het |
Pip4p1 |
C |
T |
14: 51,168,090 (GRCm39) |
G48D |
possibly damaging |
Het |
Pom121l12 |
T |
A |
11: 14,549,843 (GRCm39) |
V183D |
probably damaging |
Het |
Prickle2 |
T |
A |
6: 92,388,205 (GRCm39) |
E455V |
probably damaging |
Het |
Ranbp10 |
A |
G |
8: 106,499,723 (GRCm39) |
I502T |
probably benign |
Het |
Raph1 |
T |
A |
1: 60,572,447 (GRCm39) |
Q40L |
possibly damaging |
Het |
Rgs22 |
A |
T |
15: 36,026,127 (GRCm39) |
C1056S |
probably damaging |
Het |
Serpinb6b |
G |
A |
13: 33,152,590 (GRCm39) |
S33N |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,853,082 (GRCm39) |
N158S |
probably benign |
Het |
Serping1 |
A |
T |
2: 84,600,448 (GRCm39) |
V298D |
probably damaging |
Het |
Sgsm1 |
T |
A |
5: 113,414,196 (GRCm39) |
H637L |
probably benign |
Het |
Sh3rf2 |
G |
T |
18: 42,234,753 (GRCm39) |
V179L |
probably damaging |
Het |
Slc1a3 |
T |
C |
15: 8,680,472 (GRCm39) |
T129A |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,592,847 (GRCm39) |
Y1202F |
probably benign |
Het |
Spsb2 |
T |
C |
6: 124,786,656 (GRCm39) |
S130P |
probably damaging |
Het |
Sulf1 |
A |
G |
1: 12,913,013 (GRCm39) |
D749G |
probably benign |
Het |
Taok3 |
A |
G |
5: 117,331,813 (GRCm39) |
E10G |
possibly damaging |
Het |
Tbl3 |
G |
T |
17: 24,923,136 (GRCm39) |
A368D |
probably benign |
Het |
Tdh |
T |
A |
14: 63,733,507 (GRCm39) |
H127L |
probably damaging |
Het |
Tmem205 |
C |
A |
9: 21,838,703 (GRCm39) |
|
probably null |
Het |
Tmem30a |
A |
C |
9: 79,687,826 (GRCm39) |
F114L |
possibly damaging |
Het |
Tmprss15 |
T |
C |
16: 78,800,308 (GRCm39) |
K607E |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,913,254 (GRCm39) |
D1756V |
probably damaging |
Het |
Trhde |
A |
G |
10: 114,623,969 (GRCm39) |
F312L |
probably benign |
Het |
Ttn |
G |
A |
2: 76,656,793 (GRCm39) |
P12494L |
probably null |
Het |
Vmn2r61 |
A |
G |
7: 41,916,097 (GRCm39) |
R237G |
probably benign |
Het |
Vps13c |
A |
T |
9: 67,847,798 (GRCm39) |
N2187Y |
probably damaging |
Het |
Wdr64 |
A |
G |
1: 175,617,495 (GRCm39) |
T692A |
probably benign |
Het |
Whamm |
A |
G |
7: 81,221,172 (GRCm39) |
N35D |
probably damaging |
Het |
Wnt2 |
T |
C |
6: 18,023,335 (GRCm39) |
S105G |
probably damaging |
Het |
Zfp108 |
T |
A |
7: 23,960,952 (GRCm39) |
H514Q |
probably benign |
Het |
Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
probably benign |
Het |
Znfx1 |
T |
C |
2: 166,884,589 (GRCm39) |
K888E |
possibly damaging |
Het |
Zzz3 |
T |
C |
3: 152,154,479 (GRCm39) |
Y577H |
probably damaging |
Het |
|
Other mutations in Ptpn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00825:Ptpn4
|
APN |
1 |
119,587,655 (GRCm39) |
splice site |
probably benign |
|
IGL00885:Ptpn4
|
APN |
1 |
119,730,093 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00973:Ptpn4
|
APN |
1 |
119,669,101 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01867:Ptpn4
|
APN |
1 |
119,603,329 (GRCm39) |
missense |
probably benign |
|
IGL01870:Ptpn4
|
APN |
1 |
119,603,277 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02101:Ptpn4
|
APN |
1 |
119,615,408 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02344:Ptpn4
|
APN |
1 |
119,700,990 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02348:Ptpn4
|
APN |
1 |
119,610,452 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02693:Ptpn4
|
APN |
1 |
119,643,699 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03281:Ptpn4
|
APN |
1 |
119,587,642 (GRCm39) |
missense |
probably damaging |
1.00 |
alto
|
UTSW |
1 |
119,612,311 (GRCm39) |
nonsense |
probably null |
|
blinding
|
UTSW |
1 |
119,649,592 (GRCm39) |
critical splice donor site |
probably null |
|
botched
|
UTSW |
1 |
119,671,120 (GRCm39) |
missense |
probably damaging |
1.00 |
bungled
|
UTSW |
1 |
119,615,335 (GRCm39) |
splice site |
probably null |
|
Fovea
|
UTSW |
1 |
119,606,552 (GRCm39) |
missense |
possibly damaging |
0.81 |
hash
|
UTSW |
1 |
119,693,649 (GRCm39) |
nonsense |
probably null |
|
Hoechter
|
UTSW |
1 |
119,607,789 (GRCm39) |
missense |
probably damaging |
1.00 |
Lumens
|
UTSW |
1 |
119,595,278 (GRCm39) |
missense |
probably damaging |
1.00 |
BB008:Ptpn4
|
UTSW |
1 |
119,607,925 (GRCm39) |
missense |
probably damaging |
0.98 |
BB018:Ptpn4
|
UTSW |
1 |
119,607,925 (GRCm39) |
missense |
probably damaging |
0.98 |
R0105:Ptpn4
|
UTSW |
1 |
119,615,335 (GRCm39) |
splice site |
probably null |
|
R0105:Ptpn4
|
UTSW |
1 |
119,615,335 (GRCm39) |
splice site |
probably null |
|
R0504:Ptpn4
|
UTSW |
1 |
119,693,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R1148:Ptpn4
|
UTSW |
1 |
119,612,270 (GRCm39) |
missense |
probably damaging |
0.99 |
R1148:Ptpn4
|
UTSW |
1 |
119,612,270 (GRCm39) |
missense |
probably damaging |
0.99 |
R1148:Ptpn4
|
UTSW |
1 |
119,603,439 (GRCm39) |
splice site |
probably benign |
|
R1662:Ptpn4
|
UTSW |
1 |
119,692,788 (GRCm39) |
missense |
probably damaging |
0.96 |
R1694:Ptpn4
|
UTSW |
1 |
119,711,240 (GRCm39) |
missense |
probably damaging |
0.99 |
R1733:Ptpn4
|
UTSW |
1 |
119,643,773 (GRCm39) |
splice site |
probably null |
|
R2083:Ptpn4
|
UTSW |
1 |
119,615,489 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2226:Ptpn4
|
UTSW |
1 |
119,610,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R2276:Ptpn4
|
UTSW |
1 |
119,612,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R2277:Ptpn4
|
UTSW |
1 |
119,612,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R3123:Ptpn4
|
UTSW |
1 |
119,693,153 (GRCm39) |
splice site |
probably null |
|
R3425:Ptpn4
|
UTSW |
1 |
119,635,560 (GRCm39) |
missense |
probably benign |
0.02 |
R4568:Ptpn4
|
UTSW |
1 |
119,607,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R4716:Ptpn4
|
UTSW |
1 |
119,649,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R4819:Ptpn4
|
UTSW |
1 |
119,587,580 (GRCm39) |
missense |
probably benign |
|
R4959:Ptpn4
|
UTSW |
1 |
119,692,826 (GRCm39) |
nonsense |
probably null |
|
R5161:Ptpn4
|
UTSW |
1 |
119,635,593 (GRCm39) |
nonsense |
probably null |
|
R5345:Ptpn4
|
UTSW |
1 |
119,693,207 (GRCm39) |
missense |
probably benign |
|
R5471:Ptpn4
|
UTSW |
1 |
119,693,649 (GRCm39) |
nonsense |
probably null |
|
R5826:Ptpn4
|
UTSW |
1 |
119,612,246 (GRCm39) |
missense |
probably benign |
0.32 |
R5933:Ptpn4
|
UTSW |
1 |
119,615,453 (GRCm39) |
missense |
probably damaging |
0.97 |
R6075:Ptpn4
|
UTSW |
1 |
119,692,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R6286:Ptpn4
|
UTSW |
1 |
119,649,592 (GRCm39) |
critical splice donor site |
probably null |
|
R6389:Ptpn4
|
UTSW |
1 |
119,649,684 (GRCm39) |
missense |
probably damaging |
0.97 |
R6392:Ptpn4
|
UTSW |
1 |
119,700,853 (GRCm39) |
missense |
probably benign |
|
R6769:Ptpn4
|
UTSW |
1 |
119,643,698 (GRCm39) |
missense |
probably benign |
0.01 |
R6771:Ptpn4
|
UTSW |
1 |
119,643,698 (GRCm39) |
missense |
probably benign |
0.01 |
R6794:Ptpn4
|
UTSW |
1 |
119,671,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R6933:Ptpn4
|
UTSW |
1 |
119,700,878 (GRCm39) |
intron |
probably benign |
|
R6967:Ptpn4
|
UTSW |
1 |
119,612,311 (GRCm39) |
nonsense |
probably null |
|
R6980:Ptpn4
|
UTSW |
1 |
119,671,151 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7150:Ptpn4
|
UTSW |
1 |
119,619,475 (GRCm39) |
critical splice donor site |
probably null |
|
R7247:Ptpn4
|
UTSW |
1 |
119,617,764 (GRCm39) |
makesense |
probably null |
|
R7283:Ptpn4
|
UTSW |
1 |
119,610,261 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7459:Ptpn4
|
UTSW |
1 |
119,587,564 (GRCm39) |
missense |
probably damaging |
0.99 |
R7794:Ptpn4
|
UTSW |
1 |
119,653,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R8061:Ptpn4
|
UTSW |
1 |
119,619,330 (GRCm39) |
critical splice donor site |
probably null |
|
R8236:Ptpn4
|
UTSW |
1 |
119,606,552 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8929:Ptpn4
|
UTSW |
1 |
119,595,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R8979:Ptpn4
|
UTSW |
1 |
119,671,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R9334:Ptpn4
|
UTSW |
1 |
119,730,114 (GRCm39) |
missense |
probably benign |
|
RF014:Ptpn4
|
UTSW |
1 |
119,612,195 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCCAACACTAGGTACTGATGCATC -3'
(R):5'- ACATAGTTGGTATCTGGTGCTTTAC -3'
Sequencing Primer
(F):5'- ACTGATGCATCTTATGGAGTCTACC -3'
(R):5'- GGTGCTTTACCTAATTTAGAAAAAGG -3'
|
Posted On |
2019-11-12 |