Incidental Mutation 'R3425:Ptpn4'
ID 271715
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 040643-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # R3425 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 119580197-119765281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119635560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 381 (D381G)
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: D381G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
AA Change: D381G

DomainStartEndE-ValueType
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: D381G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000127713
Gene: ENSMUSG00000026384
AA Change: D381G

DomainStartEndE-ValueType
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 0.0718 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 97% (30/31)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 A G 14: 49,311,140 (GRCm39) E70G probably damaging Het
Atp8b3 T C 10: 80,372,181 (GRCm39) E16G probably benign Het
Csmd3 A T 15: 47,710,648 (GRCm39) D1646E probably damaging Het
Cyp2c70 G T 19: 40,172,468 (GRCm39) A58E probably damaging Het
Ddx11 T C 17: 66,446,434 (GRCm39) I415T possibly damaging Het
Gm8674 T A 13: 50,055,792 (GRCm39) noncoding transcript Het
H2-T22 A C 17: 36,352,472 (GRCm39) L151R probably damaging Het
Hmgcs1 C A 13: 120,166,668 (GRCm39) P420Q probably damaging Het
Il16 T C 7: 83,293,248 (GRCm39) E575G probably damaging Het
Ism2 T C 12: 87,333,871 (GRCm39) N58S probably benign Het
Kat7 T C 11: 95,193,991 (GRCm39) E103G probably damaging Het
Klf15 T C 6: 90,443,802 (GRCm39) S126P probably benign Het
Mapt C T 11: 104,189,548 (GRCm39) R189* probably null Het
Meltf C T 16: 31,715,343 (GRCm39) R679* probably null Het
Myo1d T C 11: 80,492,464 (GRCm39) T764A probably benign Het
Mypn T C 10: 62,954,196 (GRCm39) probably benign Het
Or5b101 G C 19: 13,005,411 (GRCm39) A94G probably benign Het
Or8h8 C T 2: 86,752,950 (GRCm39) E309K probably benign Het
Ros1 C A 10: 52,004,512 (GRCm39) probably null Het
Scel T G 14: 103,845,542 (GRCm39) V559G possibly damaging Het
Sez6l T C 5: 112,574,615 (GRCm39) D875G probably damaging Het
Slc18b1 T G 10: 23,698,874 (GRCm39) M348R probably damaging Het
Slc36a3 G T 11: 55,033,607 (GRCm39) T137K probably benign Het
Slco4c1 A T 1: 96,768,976 (GRCm39) S295R probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmprss15 A T 16: 78,800,321 (GRCm39) N587K possibly damaging Het
Upp1 T C 11: 9,075,700 (GRCm39) probably null Het
Zp1 G A 19: 10,895,956 (GRCm39) R227W probably benign Het
Other mutations in Ptpn4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CAGGCAATGTTTGAGGCAAC -3'
(R):5'- TTCTGAGTACAGTAGCTACAAGCAAAG -3'

Sequencing Primer
(F):5'- CAAGCCTGAGTACTTGGTTGCAATC -3'
(R):5'- TGCAATTTGAGAAAATGTTTGATAGC -3'
Posted On 2015-03-25