Incidental Mutation 'R2226:Ptpn4'
ID |
239708 |
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 |
040227-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.257)
|
Stock # |
R2226 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 119610515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 664
(R664Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000166624]
|
AlphaFold |
Q9WU22 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064091
AA Change: R664Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067614 Gene: ENSMUSG00000026384 AA Change: R664Q
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: ENSMUST00000166624
|
SMART Domains |
Protein: ENSMUSP00000126216 Gene: ENSMUSG00000026384
Domain | Start | End | E-Value | Type |
Blast:PTPc
|
1 |
65 |
1e-34 |
BLAST |
PDB:2I75|A
|
15 |
67 |
2e-28 |
PDB |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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 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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
A |
T |
4: 144,190,295 (GRCm39) |
V2E |
possibly damaging |
Het |
Aen |
C |
A |
7: 78,552,199 (GRCm39) |
T15K |
probably benign |
Het |
Aggf1 |
A |
G |
13: 95,507,354 (GRCm39) |
S144P |
probably damaging |
Het |
Ar |
T |
A |
X: 97,194,937 (GRCm39) |
M517K |
probably benign |
Het |
Ascc3 |
A |
G |
10: 50,630,148 (GRCm39) |
T1746A |
probably benign |
Het |
Atg9b |
A |
G |
5: 24,591,393 (GRCm39) |
V735A |
possibly damaging |
Het |
Atp1b3 |
A |
G |
9: 96,225,329 (GRCm39) |
F113S |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,604,917 (GRCm39) |
N1132S |
probably benign |
Het |
Ccdc150 |
A |
G |
1: 54,404,084 (GRCm39) |
I943V |
probably null |
Het |
Cntnap4 |
A |
G |
8: 113,542,120 (GRCm39) |
D751G |
probably damaging |
Het |
Dgkk |
T |
A |
X: 6,741,487 (GRCm39) |
D102E |
probably damaging |
Het |
Efhb |
A |
T |
17: 53,769,457 (GRCm39) |
|
probably null |
Het |
Elfn2 |
A |
G |
15: 78,558,443 (GRCm39) |
W35R |
probably damaging |
Het |
Emcn |
T |
C |
3: 137,109,778 (GRCm39) |
I140T |
possibly damaging |
Het |
Epha2 |
G |
A |
4: 141,048,548 (GRCm39) |
R569H |
probably damaging |
Het |
Gabrg2 |
A |
T |
11: 41,862,735 (GRCm39) |
F116L |
probably damaging |
Het |
Gm11555 |
T |
G |
11: 99,540,585 (GRCm39) |
R141S |
unknown |
Het |
Hectd3 |
T |
C |
4: 116,852,886 (GRCm39) |
I96T |
possibly damaging |
Het |
Hnrnpul2 |
T |
A |
19: 8,802,349 (GRCm39) |
N405K |
probably damaging |
Het |
Iigp1 |
A |
T |
18: 60,522,960 (GRCm39) |
K26I |
possibly damaging |
Het |
Kirrel2 |
T |
C |
7: 30,153,579 (GRCm39) |
K260R |
probably damaging |
Het |
Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
Krt19 |
T |
C |
11: 100,032,401 (GRCm39) |
E260G |
probably damaging |
Het |
Marchf7 |
A |
G |
2: 60,060,190 (GRCm39) |
R106G |
probably benign |
Het |
Mthfd2l |
G |
T |
5: 91,096,693 (GRCm39) |
E105* |
probably null |
Het |
Mtus1 |
C |
T |
8: 41,535,812 (GRCm39) |
V635M |
probably damaging |
Het |
Ndufaf5 |
T |
C |
2: 140,030,780 (GRCm39) |
V222A |
probably benign |
Het |
Nkpd1 |
A |
T |
7: 19,253,745 (GRCm39) |
Y37F |
probably benign |
Het |
Nsun7 |
T |
A |
5: 66,418,562 (GRCm39) |
Y97* |
probably null |
Het |
Nxph3 |
T |
C |
11: 95,404,990 (GRCm39) |
Y17C |
probably benign |
Het |
Or2l5 |
T |
C |
16: 19,333,996 (GRCm39) |
H130R |
probably benign |
Het |
Or4k1 |
A |
G |
14: 50,378,076 (GRCm39) |
S7P |
probably damaging |
Het |
Or51a5 |
A |
G |
7: 102,771,115 (GRCm39) |
M292T |
probably benign |
Het |
Or5aq1 |
A |
C |
2: 86,966,590 (GRCm39) |
V25G |
possibly damaging |
Het |
Or7g19 |
A |
T |
9: 18,856,177 (GRCm39) |
I78F |
probably damaging |
Het |
P2rx2 |
A |
G |
5: 110,490,745 (GRCm39) |
F26S |
probably damaging |
Het |
Pank1 |
A |
T |
19: 34,804,763 (GRCm39) |
L131Q |
probably damaging |
Het |
Pcx |
T |
C |
19: 4,668,026 (GRCm39) |
I516T |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,376,188 (GRCm39) |
I950T |
possibly damaging |
Het |
Ppwd1 |
A |
G |
13: 104,353,753 (GRCm39) |
L335P |
probably damaging |
Het |
Ptch1 |
A |
G |
13: 63,661,485 (GRCm39) |
S1218P |
probably damaging |
Het |
Semp2l1 |
A |
T |
1: 32,584,934 (GRCm39) |
H325Q |
probably damaging |
Het |
Sfxn1 |
A |
G |
13: 54,239,536 (GRCm39) |
T20A |
possibly damaging |
Het |
Sgsm3 |
A |
G |
15: 80,888,069 (GRCm39) |
E53G |
probably damaging |
Het |
Slc22a19 |
C |
T |
19: 7,661,215 (GRCm39) |
V320M |
possibly damaging |
Het |
Slc25a33 |
A |
T |
4: 149,838,306 (GRCm39) |
I122N |
probably benign |
Het |
Spata31d1a |
T |
A |
13: 59,851,529 (GRCm39) |
I200L |
probably benign |
Het |
Spin2g |
A |
T |
X: 33,656,599 (GRCm39) |
I171N |
possibly damaging |
Het |
Srsf6 |
G |
A |
2: 162,773,619 (GRCm39) |
S10N |
probably damaging |
Het |
Tesl2 |
T |
A |
X: 23,825,173 (GRCm39) |
M1L |
probably null |
Het |
Thoc2l |
T |
A |
5: 104,667,286 (GRCm39) |
Y603N |
probably damaging |
Het |
Ttc12 |
A |
G |
9: 49,353,135 (GRCm39) |
|
probably null |
Het |
Vmn2r100 |
A |
G |
17: 19,742,634 (GRCm39) |
K336R |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,701,295 (GRCm39) |
Y68* |
probably null |
Het |
Zfp738 |
A |
G |
13: 67,818,431 (GRCm39) |
F520S |
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 |
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 |
R7732:Ptpn4
|
UTSW |
1 |
119,620,532 (GRCm39) |
missense |
probably benign |
|
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'- AGGACCCGTGTAGCATCATC -3'
(R):5'- AACTACCAAGCAGACTATATCTCTGG -3'
Sequencing Primer
(F):5'- TGGGATTAAACCAGAAAAGCTATACC -3'
(R):5'- AGACTATATCTCTGGGTCAGCACG -3'
|
Posted On |
2014-10-15 |