Incidental Mutation 'R0105:Ptpn4'
ID 33232
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 038391-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # R0105 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 1
Chromosomal Location 119580197-119765281 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 119615335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000067614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064091] [ENSMUST00000064091] [ENSMUST00000163435] [ENSMUST00000166624]
AlphaFold Q9WU22
Predicted Effect probably null
Transcript: ENSMUST00000064091
SMART Domains Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384

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 null
Transcript: ENSMUST00000064091
SMART Domains Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384

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
SMART Domains Protein: ENSMUSP00000127713
Gene: ENSMUSG00000026384

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: ENSMUST00000166624
SMART Domains Protein: ENSMUSP00000126216
Gene: ENSMUSG00000026384

DomainStartEndE-ValueType
Blast:PTPc 1 65 1e-34 BLAST
PDB:2I75|A 15 67 2e-28 PDB
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (70/70)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik G A 6: 133,271,277 (GRCm39) R107K probably benign Het
A530053G22Rik T C 6: 60,379,137 (GRCm39) noncoding transcript Het
Adcy9 A G 16: 4,106,252 (GRCm39) V954A probably damaging Het
Aldh8a1 T A 10: 21,271,438 (GRCm39) M388K probably damaging Het
Ankhd1 A G 18: 36,779,819 (GRCm39) I1720M probably damaging Het
Atp6v0a4 T C 6: 38,030,064 (GRCm39) probably benign Het
C1qtnf4 T A 2: 90,720,707 (GRCm39) *327R probably null Het
C1s1 T C 6: 124,518,277 (GRCm39) probably benign Het
Cdsn A C 17: 35,867,035 (GRCm39) R521S possibly damaging Het
Cgnl1 T C 9: 71,563,384 (GRCm39) M848V probably benign Het
Cog3 A G 14: 75,959,580 (GRCm39) S591P probably damaging Het
Col6a3 A G 1: 90,725,883 (GRCm39) V1375A possibly damaging Het
Cplane1 T A 15: 8,216,876 (GRCm39) V698D probably benign Het
Cr1l A G 1: 194,794,720 (GRCm39) probably benign Het
Crmp1 T A 5: 37,441,479 (GRCm39) D520E probably damaging Het
Ctdspl2 T A 2: 121,807,801 (GRCm39) probably benign Het
Dnah6 C T 6: 73,132,262 (GRCm39) A1147T probably damaging Het
Dsg2 T C 18: 20,735,111 (GRCm39) S1030P probably benign Het
Elavl3 C A 9: 21,948,129 (GRCm39) V12F possibly damaging Het
Fam20b T C 1: 156,518,140 (GRCm39) E218G probably damaging Het
Fam227a T C 15: 79,505,033 (GRCm39) D466G possibly damaging Het
Fto G A 8: 92,249,430 (GRCm39) E421K probably damaging Het
Gab2 T C 7: 96,948,279 (GRCm39) Y290H probably damaging Het
Gm973 A G 1: 59,621,633 (GRCm39) Q591R probably null Het
Gsdmc2 T C 15: 63,700,026 (GRCm39) T249A probably benign Het
Il15ra T A 2: 11,735,459 (GRCm39) probably null Het
Il1rl1 CTTGTTGTTGTTGTTGTTG CTTGTTGTTGTTGTTGTTGTTG 1: 40,481,734 (GRCm39) probably benign Het
Il6ra A G 3: 89,784,125 (GRCm39) I382T probably damaging Het
Isy1 G A 6: 87,796,167 (GRCm39) R257W probably damaging Het
Krt76 T C 15: 101,793,347 (GRCm39) T564A unknown Het
Lhpp T C 7: 132,232,254 (GRCm39) S57P probably damaging Het
Lrrk1 G T 7: 65,942,089 (GRCm39) D716E probably damaging Het
Mcm3ap T A 10: 76,335,368 (GRCm39) D1263E probably damaging Het
Mogat1 A G 1: 78,500,307 (GRCm39) T124A probably benign Het
Mroh7 T C 4: 106,568,467 (GRCm39) T48A possibly damaging Het
Nccrp1 T C 7: 28,246,463 (GRCm39) D33G probably benign Het
Neurog1 G T 13: 56,399,050 (GRCm39) D232E probably benign Het
Or4a71 T C 2: 89,358,707 (GRCm39) T16A probably benign Het
Or4c105 T A 2: 88,648,253 (GRCm39) V246D probably damaging Het
Otog C A 7: 45,937,790 (GRCm39) T1833K possibly damaging Het
Perm1 C A 4: 156,302,682 (GRCm39) H409N probably benign Het
Pik3r5 A T 11: 68,381,337 (GRCm39) E174D probably damaging Het
Pkhd1 G A 1: 20,593,956 (GRCm39) Q1386* probably null Het
Pla2r1 T C 2: 60,345,325 (GRCm39) R344G possibly damaging Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plekhg4 G A 8: 106,108,644 (GRCm39) V1202M possibly damaging Het
Ppil4 A G 10: 7,674,210 (GRCm39) Y118C probably damaging Het
Prrc2b G T 2: 32,103,323 (GRCm39) E934* probably null Het
Psmb9 A G 17: 34,406,249 (GRCm39) F12S probably benign Het
Ptdss2 T C 7: 140,732,793 (GRCm39) W183R probably damaging Het
Reln G A 5: 22,253,813 (GRCm39) R600W probably damaging Het
Scml4 T A 10: 42,806,595 (GRCm39) V161E probably damaging Het
Sdcbp2 A T 2: 151,431,478 (GRCm39) T284S probably benign Het
Slc22a29 T C 19: 8,137,991 (GRCm39) probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Spen T C 4: 141,197,121 (GRCm39) probably benign Het
Sumf2 T A 5: 129,878,735 (GRCm39) probably benign Het
Tbx10 A G 19: 4,043,121 (GRCm39) probably benign Het
Tex10 C A 4: 48,468,957 (GRCm39) V73F probably damaging Het
Tgm5 C A 2: 120,907,493 (GRCm39) G77W probably damaging Het
Tnfrsf21 T A 17: 43,351,082 (GRCm39) probably null Het
Treml2 C T 17: 48,609,856 (GRCm39) T96I probably damaging Het
Trim65 T C 11: 116,016,892 (GRCm39) *523W probably null Het
Zcchc17 T A 4: 130,243,099 (GRCm39) D28V probably benign Het
Zhx2 T C 15: 57,686,091 (GRCm39) F487L probably damaging Het
Zkscan6 T A 11: 65,712,811 (GRCm39) L248Q probably damaging 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
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
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'- CTCCACTGTGCATCAGAGGTGAAAG -3'
(R):5'- GGATGCTGGGCACCTATTTGAACAC -3'

Sequencing Primer
(F):5'- CATCAGAGGTGAAAGAAAGTGTGAC -3'
(R):5'- GGGCACCTATTTGAACACTTATC -3'
Posted On 2013-05-09