Incidental Mutation 'R9334:Ptpn4'
ID 706967
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # R9334 (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 C at 119730114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 26 (H26R)
Ref Sequence ENSEMBL: ENSMUSP00000127713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064091] [ENSMUST00000163435] [ENSMUST00000163621] [ENSMUST00000164086] [ENSMUST00000166422] [ENSMUST00000168303]
AlphaFold Q9WU22
Predicted Effect probably benign
Transcript: ENSMUST00000064091
AA Change: H26R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
AA Change: H26R

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: H26R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127713
Gene: ENSMUSG00000026384
AA Change: H26R

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: ENSMUST00000163621
AA Change: H26R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130808
Gene: ENSMUSG00000026384
AA Change: H26R

DomainStartEndE-ValueType
Pfam:FERM_N 33 86 1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164086
AA Change: H20R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127998
Gene: ENSMUSG00000026384
AA Change: H20R

DomainStartEndE-ValueType
B41 19 133 4.88e-2 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000129180
Gene: ENSMUSG00000026384
AA Change: H26R

DomainStartEndE-ValueType
Pfam:FERM_N 33 85 1.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168303
AA Change: H26R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129521
Gene: ENSMUSG00000026384
AA Change: H26R

DomainStartEndE-ValueType
Pfam:FERM_N 11 75 2.7e-9 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000130299
Gene: ENSMUSG00000026384
AA Change: H13R

DomainStartEndE-ValueType
B41 13 142 9.36e-14 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b A T 1: 36,739,251 (GRCm39) I346N probably damaging Het
Adam6b A C 12: 113,454,768 (GRCm39) E528D probably damaging Het
Ang A G 14: 51,339,017 (GRCm39) M53V possibly damaging Het
Ankrd26 G A 6: 118,509,262 (GRCm39) A601V probably benign Het
Atp6v0d2 A G 4: 19,890,695 (GRCm39) L155P probably damaging Het
Cacna1a T C 8: 85,296,594 (GRCm39) V1204A probably damaging Het
Car4 A G 11: 84,855,415 (GRCm39) I183V probably benign Het
Ccdc149 G T 5: 52,578,171 (GRCm39) A87E possibly damaging Het
Ccdc88b A G 19: 6,833,541 (GRCm39) M208T possibly damaging Het
Ccnt2 T C 1: 127,723,046 (GRCm39) L162S probably damaging Het
Cd27 A G 6: 125,213,718 (GRCm39) probably null Het
Cfap44 C A 16: 44,239,654 (GRCm39) T567K probably damaging Het
Cpne5 C T 17: 29,423,673 (GRCm39) V152M probably benign Het
Cyp2u1 C T 3: 131,092,065 (GRCm39) V152M probably damaging Het
Dnajc13 A T 9: 104,051,659 (GRCm39) F1733I probably benign Het
Dop1a A G 9: 86,403,027 (GRCm39) Y1409C probably damaging Het
Ecm2 T C 13: 49,677,815 (GRCm39) M367T probably benign Het
Eif4g2 A G 7: 110,674,031 (GRCm39) S658P possibly damaging Het
Exoc3l4 T C 12: 111,397,117 (GRCm39) L666P probably damaging Het
Fbxl4 G A 4: 22,376,778 (GRCm39) M71I probably damaging Het
Fbxw10 T C 11: 62,765,910 (GRCm39) S727P possibly damaging Het
Fem1b A T 9: 62,703,604 (GRCm39) L552* probably null Het
Filip1 A T 9: 79,725,739 (GRCm39) V960D probably benign Het
Glipr1l3 A T 10: 111,979,948 (GRCm39) M198K probably benign Het
Gm19410 T A 8: 36,270,722 (GRCm39) C1216* probably null Het
Gmps T A 3: 63,889,864 (GRCm39) V81E probably damaging Het
Gpr150 G T 13: 76,204,103 (GRCm39) Q281K probably benign Het
Grsf1 A G 5: 88,820,469 (GRCm39) V221A probably damaging Het
Gsc T A 12: 104,439,353 (GRCm39) I8F probably damaging Het
Homer2 A T 7: 81,261,078 (GRCm39) C284* probably null Het
Hrg T A 16: 22,780,061 (GRCm39) H446Q unknown Het
Jag1 C T 2: 136,943,593 (GRCm39) R201H probably damaging Het
Kctd15 C T 7: 34,341,483 (GRCm39) R148H possibly damaging Het
Klhdc7a G A 4: 139,693,493 (GRCm39) R485C probably benign Het
Ldhd T A 8: 112,353,980 (GRCm39) I407F probably benign Het
Lgals12 G A 19: 7,578,086 (GRCm39) R192C probably benign Het
Lmf2 G A 15: 89,239,577 (GRCm39) L26F probably damaging Het
Lum A T 10: 97,404,347 (GRCm39) I81F probably damaging Het
Map1b G T 13: 99,568,148 (GRCm39) D1524E unknown Het
Marveld3 A G 8: 110,675,036 (GRCm39) L260S probably damaging Het
Mms19 C T 19: 41,942,203 (GRCm39) R555H probably benign Het
Mrpl37 G A 4: 106,921,605 (GRCm39) T208I probably benign Het
Mug1 A T 6: 121,838,490 (GRCm39) T498S probably benign Het
Myo3b T C 2: 70,047,360 (GRCm39) C289R probably damaging Het
Myo7a A T 7: 97,716,369 (GRCm39) F1459Y probably damaging Het
Neurl4 C A 11: 69,796,792 (GRCm39) R518S probably damaging Het
Nmnat2 T G 1: 152,949,585 (GRCm39) V43G probably damaging Het
Or2b11 T C 11: 59,462,272 (GRCm39) Y98C probably damaging Het
Or2n1b T A 17: 38,459,840 (GRCm39) F120L probably benign Het
Or6c6c A G 10: 129,541,683 (GRCm39) N312S probably benign Het
Otog A G 7: 45,909,353 (GRCm39) T608A possibly damaging Het
Pck2 G A 14: 55,785,283 (GRCm39) R482Q probably damaging Het
Pcx G A 19: 4,670,532 (GRCm39) M1013I probably benign Het
Pex13 A G 11: 23,605,630 (GRCm39) M200T probably benign Het
Pigt CCGTGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC CCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC 2: 164,349,420 (GRCm39) probably null Het
Pramel32 A T 4: 88,548,186 (GRCm39) I73K probably damaging Het
Ralgps2 T A 1: 156,715,599 (GRCm39) E72V probably damaging Het
Relch T A 1: 105,654,179 (GRCm39) F873L possibly damaging Het
Scube1 A T 15: 83,512,264 (GRCm39) C396S possibly damaging Het
Sec23b T A 2: 144,410,550 (GRCm39) N283K possibly damaging Het
Setx T A 2: 29,044,032 (GRCm39) Y1800* probably null Het
Sgce G T 6: 4,707,205 (GRCm39) S213R probably damaging Het
Skic3 C A 13: 76,281,076 (GRCm39) T704N possibly damaging Het
Slc36a2 T C 11: 55,075,865 (GRCm39) probably benign Het
Sult5a1 A T 8: 123,875,146 (GRCm39) D129E probably damaging Het
Tacr1 A T 6: 82,380,913 (GRCm39) H108L probably damaging Het
Tnfsf10 T A 3: 27,389,496 (GRCm39) Y186N probably damaging Het
Unc80 T C 1: 66,688,919 (GRCm39) S2428P possibly damaging Het
Vwf G A 6: 125,654,909 (GRCm39) R2535H Het
Zfp532 A G 18: 65,756,128 (GRCm39) I20M 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
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
RF014:Ptpn4 UTSW 1 119,612,195 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GTCTGAATGAGCAGGAATACTTG -3'
(R):5'- CAGTTGCTGAGCTCCCATACTC -3'

Sequencing Primer
(F):5'- AGACTTCCTTAAGTAAGACTGTCC -3'
(R):5'- CTCCTTAAATCTTCTCAGTCAAACAG -3'
Posted On 2022-04-18