Incidental Mutation 'R5161:Ptpn4'
| ID |
396972 |
| 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 |
042743-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.257)
|
| Stock # |
R5161 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 119635593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 370
(W370*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000163435]
|
| AlphaFold |
Q9WU22 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064091
AA Change: W370*
|
| SMART Domains |
Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
AA Change: W370*
| 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 null
Transcript: ENSMUST00000163435
AA Change: W370*
|
| SMART Domains |
Protein: ENSMUSP00000127713
Gene: ENSMUSG00000026384
AA Change: W370*
| 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 |
noncoding transcript
Transcript: ENSMUST00000168808
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (56/57) |
| 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 |
|---|
| 0610040J01Rik |
G |
T |
5: 64,055,344 (GRCm39) |
E27* |
probably null |
Het |
| 4930407I10Rik |
G |
T |
15: 81,947,542 (GRCm39) |
E480* |
probably null |
Het |
| Acad11 |
T |
C |
9: 104,001,227 (GRCm39) |
I591T |
probably benign |
Het |
| Acsbg3 |
A |
T |
17: 57,189,888 (GRCm39) |
I305F |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,883,020 (GRCm39) |
E857K |
probably benign |
Het |
| Atf2 |
A |
C |
2: 73,660,134 (GRCm39) |
|
probably null |
Het |
| Cass4 |
C |
A |
2: 172,274,244 (GRCm39) |
A675E |
probably damaging |
Het |
| Coa8 |
C |
A |
12: 111,689,208 (GRCm39) |
Q97K |
possibly damaging |
Het |
| Ctsd |
A |
T |
7: 141,930,881 (GRCm39) |
L283Q |
probably damaging |
Het |
| Ddrgk1 |
A |
T |
2: 130,505,296 (GRCm39) |
M1K |
probably null |
Het |
| Dipk1b |
C |
T |
2: 26,526,260 (GRCm39) |
T398M |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,335,791 (GRCm39) |
A62T |
possibly damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,748,207 (GRCm39) |
D407G |
possibly damaging |
Het |
| Eif1ad17 |
T |
A |
12: 87,978,887 (GRCm39) |
D90E |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,974,467 (GRCm39) |
V37A |
probably damaging |
Het |
| Fam20a |
C |
T |
11: 109,564,196 (GRCm39) |
R519Q |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,405,549 (GRCm39) |
T767A |
probably benign |
Het |
| Fbxl8 |
A |
T |
8: 105,995,538 (GRCm39) |
H350L |
possibly damaging |
Het |
| Gm10226 |
A |
C |
17: 21,910,834 (GRCm39) |
Q23P |
possibly damaging |
Het |
| Gm38706 |
A |
T |
6: 130,459,868 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch2l |
G |
T |
12: 86,313,950 (GRCm39) |
R362L |
probably benign |
Het |
| Hyal5 |
A |
T |
6: 24,891,602 (GRCm39) |
D472V |
probably benign |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,699,777 (GRCm39) |
S102G |
possibly damaging |
Het |
| Itpripl1 |
A |
C |
2: 126,983,777 (GRCm39) |
L115R |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,705,726 (GRCm39) |
C169Y |
possibly damaging |
Het |
| Krt88 |
T |
A |
15: 101,348,349 (GRCm39) |
C12S |
probably benign |
Het |
| Macroh2a1 |
T |
C |
13: 56,237,594 (GRCm39) |
D222G |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,582,895 (GRCm39) |
V2557M |
probably damaging |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,458,936 (GRCm39) |
Q1996K |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,919,430 (GRCm39) |
E6205G |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,955,136 (GRCm39) |
Y3926H |
possibly damaging |
Het |
| Or14a259 |
T |
C |
7: 86,013,546 (GRCm39) |
|
probably null |
Het |
| Or5an10 |
A |
T |
19: 12,276,153 (GRCm39) |
S114R |
probably damaging |
Het |
| P2ry2 |
A |
T |
7: 100,648,136 (GRCm39) |
Y56* |
probably null |
Het |
| Pate10 |
T |
A |
9: 35,652,884 (GRCm39) |
L42* |
probably null |
Het |
| Pde1a |
T |
C |
2: 79,708,488 (GRCm39) |
N242S |
probably null |
Het |
| Pik3cg |
C |
T |
12: 32,254,977 (GRCm39) |
E337K |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,433,712 (GRCm39) |
N587S |
probably benign |
Het |
| Pmpca |
T |
C |
2: 26,285,183 (GRCm39) |
|
probably null |
Het |
| Qki |
A |
T |
17: 10,434,419 (GRCm39) |
|
probably null |
Het |
| Rapgef3 |
A |
G |
15: 97,655,606 (GRCm39) |
V427A |
probably damaging |
Het |
| Rbbp8 |
T |
G |
18: 11,855,171 (GRCm39) |
D465E |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,594,935 (GRCm39) |
K1928R |
probably benign |
Het |
| Slc5a5 |
A |
C |
8: 71,341,492 (GRCm39) |
C346G |
probably damaging |
Het |
| Spata2l |
A |
G |
8: 123,962,288 (GRCm39) |
L91P |
probably damaging |
Het |
| Syt3 |
C |
A |
7: 44,045,439 (GRCm39) |
H560N |
possibly damaging |
Het |
| Timm23 |
G |
A |
14: 31,915,882 (GRCm39) |
P63L |
probably damaging |
Het |
| Tmem191 |
T |
C |
16: 17,094,743 (GRCm39) |
S108P |
possibly damaging |
Het |
| Ttc21b |
A |
G |
2: 66,059,367 (GRCm39) |
C545R |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Usp17ld |
A |
T |
7: 102,899,579 (GRCm39) |
L451* |
probably null |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,497 (GRCm39) |
Y122H |
probably benign |
Het |
| Vxn |
G |
T |
1: 9,692,902 (GRCm39) |
G145* |
probably null |
Het |
| Zfp1002 |
A |
T |
2: 150,097,135 (GRCm39) |
I98K |
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 |
|
|
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'- ACAGGCAATGTTTGAGGCAAC -3'
(R):5'- CTGAGTACAGTAGCTACAAGCAAAG -3'
Sequencing Primer
(F):5'- CAAGCCTGAGTACTTGGTTGCAATC -3'
(R):5'- TGCAATTTGAGAAAATGTTTGATAGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation