Incidental Mutation 'R6980:Ptpn4'
| ID |
543729 |
| 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 |
045088-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R6980 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119671151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 202
(E202D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000163179]
[ENSMUST00000163435]
|
| AlphaFold |
Q9WU22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064091
AA Change: E202D
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
AA Change: E202D
| 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: ENSMUST00000163179
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163435
AA Change: E202D
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127713
Gene: ENSMUSG00000026384
AA Change: E202D
| 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
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000130299
Gene: ENSMUSG00000026384
AA Change: E138D
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
13 |
142 |
9.36e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
A |
2: 25,330,878 (GRCm39) |
R1189S |
possibly damaging |
Het |
| Abcf2 |
T |
C |
5: 24,770,970 (GRCm39) |
Q594R |
probably benign |
Het |
| Abhd18 |
G |
A |
3: 40,888,215 (GRCm39) |
S353N |
probably benign |
Het |
| Adrb1 |
G |
T |
19: 56,712,046 (GRCm39) |
A415S |
probably benign |
Het |
| Art2b |
T |
C |
7: 101,229,680 (GRCm39) |
N73S |
probably benign |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
CACTGGTTCTGTGGT |
CACTGGTTCTGTGGTTACTGGTTCTGTGGT |
3: 95,795,480 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCTCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC |
3: 95,795,451 (GRCm39) |
|
probably benign |
Het |
| Cacna1a |
A |
G |
8: 85,338,914 (GRCm39) |
M1753V |
possibly damaging |
Het |
| Cbx8 |
A |
T |
11: 118,930,287 (GRCm39) |
I102N |
possibly damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,238,620 (GRCm39) |
E332D |
probably benign |
Het |
| Cdhr17 |
T |
A |
5: 17,031,944 (GRCm39) |
V533D |
possibly damaging |
Het |
| Cfap74 |
G |
A |
4: 155,550,809 (GRCm39) |
|
probably benign |
Het |
| Chat |
A |
T |
14: 32,146,111 (GRCm39) |
M354K |
probably benign |
Het |
| Cmas |
A |
G |
6: 142,702,526 (GRCm39) |
T10A |
probably damaging |
Het |
| Cyb561d1 |
A |
T |
3: 108,107,475 (GRCm39) |
L51H |
probably benign |
Het |
| D030056L22Rik |
A |
T |
19: 18,694,629 (GRCm39) |
N128I |
probably damaging |
Het |
| D130043K22Rik |
G |
T |
13: 25,048,764 (GRCm39) |
A423S |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,475,795 (GRCm39) |
I1349T |
probably benign |
Het |
| Dnajb3 |
T |
G |
1: 88,132,736 (GRCm39) |
D222A |
probably damaging |
Het |
| Dtx1 |
T |
C |
5: 120,819,422 (GRCm39) |
E592G |
probably damaging |
Het |
| Dzank1 |
C |
T |
2: 144,332,056 (GRCm39) |
G427R |
possibly damaging |
Het |
| E130308A19Rik |
A |
C |
4: 59,719,991 (GRCm39) |
K508Q |
probably damaging |
Het |
| Eif4e1b |
T |
A |
13: 54,931,916 (GRCm39) |
|
probably null |
Het |
| Ell2 |
A |
G |
13: 75,904,495 (GRCm39) |
M159V |
probably null |
Het |
| Eml4 |
G |
A |
17: 83,758,446 (GRCm39) |
V377I |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,207,773 (GRCm39) |
S2466T |
probably benign |
Het |
| Gfpt1 |
C |
A |
6: 87,054,071 (GRCm39) |
T426K |
probably damaging |
Het |
| Gm49355 |
T |
C |
14: 12,307,173 (GRCm38) |
|
probably benign |
Het |
| Gm5114 |
T |
C |
7: 39,058,624 (GRCm39) |
I332V |
probably benign |
Het |
| Gpr15 |
T |
A |
16: 58,539,105 (GRCm39) |
|
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,225,684 (GRCm39) |
E2157G |
probably benign |
Het |
| Gramd4 |
A |
G |
15: 86,016,170 (GRCm39) |
N482S |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 107,028,343 (GRCm39) |
I829K |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,139,916 (GRCm39) |
E728D |
possibly damaging |
Het |
| Ifngr2 |
T |
A |
16: 91,356,895 (GRCm39) |
V143E |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,414,730 (GRCm39) |
D1390G |
probably benign |
Het |
| Kdf1 |
A |
T |
4: 133,256,138 (GRCm39) |
D285V |
probably damaging |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,726,942 (GRCm39) |
|
probably null |
Het |
| Megf11 |
A |
G |
9: 64,613,132 (GRCm39) |
E1016G |
probably damaging |
Het |
| Mixl1 |
G |
A |
1: 180,524,453 (GRCm39) |
A42V |
possibly damaging |
Het |
| Mpp2 |
A |
G |
11: 101,950,154 (GRCm39) |
W567R |
probably damaging |
Het |
| Mrgpra6 |
A |
G |
7: 46,838,697 (GRCm39) |
L136P |
probably damaging |
Het |
| Mroh7 |
T |
A |
4: 106,557,434 (GRCm39) |
I759L |
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,500,609 (GRCm39) |
D277G |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,027,234 (GRCm39) |
K205N |
probably benign |
Het |
| Or4g17 |
A |
G |
2: 111,209,620 (GRCm39) |
I92V |
possibly damaging |
Het |
| Or4p4b-ps1 |
A |
G |
2: 88,453,939 (GRCm39) |
*97W |
probably null |
Het |
| Or52e19b |
T |
C |
7: 103,032,303 (GRCm39) |
E302G |
probably benign |
Het |
| Or5al6 |
A |
T |
2: 85,976,681 (GRCm39) |
Y132* |
probably null |
Het |
| Oxnad1 |
C |
T |
14: 31,807,576 (GRCm39) |
|
probably benign |
Het |
| Pamr1 |
C |
T |
2: 102,472,549 (GRCm39) |
T616I |
probably benign |
Het |
| Pcdhgb5 |
C |
T |
18: 37,866,592 (GRCm39) |
H796Y |
possibly damaging |
Het |
| Pdlim7 |
G |
T |
13: 55,656,041 (GRCm39) |
D126E |
probably benign |
Het |
| Pfdn2 |
C |
T |
1: 171,185,465 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,216,032 (GRCm39) |
|
probably null |
Het |
| Pms2 |
A |
T |
5: 143,848,842 (GRCm39) |
I43L |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
| Rnf40 |
T |
A |
7: 127,193,849 (GRCm39) |
V455E |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,266,169 (GRCm39) |
N585S |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,878,582 (GRCm39) |
S188P |
probably damaging |
Het |
| Rsbn1l |
T |
A |
5: 21,101,482 (GRCm39) |
H686L |
probably benign |
Het |
| Runx2 |
C |
T |
17: 45,046,203 (GRCm39) |
V107I |
possibly damaging |
Het |
| Rusc2 |
A |
G |
4: 43,422,846 (GRCm39) |
I994M |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,808,812 (GRCm39) |
D420V |
probably benign |
Het |
| Sash1 |
T |
C |
10: 8,605,612 (GRCm39) |
Q926R |
probably benign |
Het |
| Scgb3a2 |
T |
A |
18: 43,897,499 (GRCm39) |
I6N |
probably damaging |
Het |
| Sdc3 |
T |
A |
4: 130,544,233 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,808,755 (GRCm39) |
V658A |
probably benign |
Het |
| Slc25a39 |
A |
G |
11: 102,296,601 (GRCm39) |
V81A |
probably damaging |
Het |
| Snai2 |
T |
A |
16: 14,526,113 (GRCm39) |
S255T |
possibly damaging |
Het |
| Sorbs1 |
A |
T |
19: 40,316,060 (GRCm39) |
Y371* |
probably null |
Het |
| Spata31d1b |
A |
T |
13: 59,863,236 (GRCm39) |
H128L |
probably benign |
Het |
| Spdl1 |
A |
T |
11: 34,721,706 (GRCm39) |
M1K |
probably null |
Het |
| Tgm3 |
T |
A |
2: 129,868,697 (GRCm39) |
N211K |
probably benign |
Het |
| Tmem116 |
T |
C |
5: 121,606,050 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
T |
A |
11: 82,329,212 (GRCm39) |
|
probably null |
Het |
| Tmem53 |
T |
C |
4: 117,125,705 (GRCm39) |
C251R |
probably damaging |
Het |
| Trcg1 |
A |
C |
9: 57,152,856 (GRCm39) |
D551A |
probably damaging |
Het |
| Trp63 |
T |
A |
16: 25,620,843 (GRCm39) |
F12I |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,709,401 (GRCm39) |
|
probably null |
Het |
| Tubgcp4 |
T |
C |
2: 121,025,946 (GRCm39) |
V596A |
probably benign |
Het |
| Ugt2a3 |
A |
C |
5: 87,473,491 (GRCm39) |
H475Q |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,025,759 (GRCm39) |
R382K |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,513,662 (GRCm39) |
H327R |
possibly damaging |
Het |
| Vmn2r7 |
G |
A |
3: 64,623,987 (GRCm39) |
T111I |
possibly damaging |
Het |
| Zfp318 |
T |
A |
17: 46,708,138 (GRCm39) |
Y399N |
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 |
|
|
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'- AGGAGTTGGAGTTTATGGCTAAGTATA -3'
(R):5'- TCTCACTGTATTCTTAATATTCCTGGA -3'
Sequencing Primer
(F):5'- AAAATACTTGAGGCCCTGGTTCC -3'
(R):5'- CTGCAAGTATGACCTTGAT -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation