Incidental Mutation 'R7459:Ptpn4'
ID 578286
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 045533-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # R7459 (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 119587564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 926 (K926N)
Ref Sequence ENSEMBL: ENSMUSP00000067614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064091] [ENSMUST00000166624]
AlphaFold Q9WU22
Predicted Effect probably damaging
Transcript: ENSMUST00000064091
AA Change: K926N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
AA Change: K926N

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: ENSMUST00000166624
SMART Domains Protein: ENSMUSP00000126216
Gene: ENSMUSG00000026384

DomainStartEndE-ValueType
Blast:PTPc 1 65 1e-34 BLAST
PDB:2I75|A 15 67 2e-28 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,756,933 (GRCm39) V730E probably damaging Het
Agbl1 G A 7: 76,069,814 (GRCm39) D449N not run Het
Agr2 A T 12: 36,047,452 (GRCm39) E96V probably benign Het
Atp1a2 A C 1: 172,114,862 (GRCm39) S308A probably benign Het
Birc7 T C 2: 180,571,150 (GRCm39) S71P possibly damaging Het
Brme1 T G 8: 84,893,981 (GRCm39) S383A probably benign Het
Camk2g T C 14: 20,829,275 (GRCm39) I73V probably damaging Het
Carf C A 1: 60,167,198 (GRCm39) T177K possibly damaging Het
Ccdc191 C T 16: 43,767,820 (GRCm39) Q665* probably null Het
Cd79a A T 7: 24,598,567 (GRCm39) T39S possibly damaging Het
Ces5a C A 8: 94,262,369 (GRCm39) probably benign Het
Dkk2 C A 3: 131,880,790 (GRCm39) T145N probably benign Het
Dot1l C T 10: 80,609,007 (GRCm39) A188V probably damaging Het
Egfr T A 11: 16,846,967 (GRCm39) V788D probably damaging Het
Esyt3 T A 9: 99,240,117 (GRCm39) H109L probably benign Het
Fam234b C T 6: 135,188,899 (GRCm39) T168I probably benign Het
Fan1 G T 7: 63,998,714 (GRCm39) S936Y probably damaging Het
Fat2 T C 11: 55,194,745 (GRCm39) E1098G probably damaging Het
Fcgbp A G 7: 27,806,710 (GRCm39) D2226G possibly damaging Het
Flacc1 T G 1: 58,730,911 (GRCm39) E48D possibly damaging Het
Flvcr2 T C 12: 85,793,831 (GRCm39) V69A probably benign Het
Foxb2 T A 19: 16,850,436 (GRCm39) H190L unknown Het
Fut4 C T 9: 14,662,602 (GRCm39) V231M possibly damaging Het
Gtf2a1 G A 12: 91,542,426 (GRCm39) A91V probably benign Het
Hip1 A G 5: 135,443,151 (GRCm39) S961P probably damaging Het
Hsf2bp C T 17: 32,165,708 (GRCm39) V296M probably benign Het
Hspbp1 G T 7: 4,687,577 (GRCm39) H11Q probably benign Het
Ighv1-84 C T 12: 115,944,432 (GRCm39) E81K probably benign Het
Isg20l2 T C 3: 87,839,485 (GRCm39) L232P possibly damaging Het
Isx A G 8: 75,619,392 (GRCm39) Y181C probably benign Het
Kif9 A G 9: 110,348,109 (GRCm39) Y644C probably damaging Het
Lin7c T A 2: 109,727,682 (GRCm39) V177D probably benign Het
Lpin3 T C 2: 160,739,220 (GRCm39) S343P probably benign Het
Mat1a A T 14: 40,842,141 (GRCm39) Q246L probably benign Het
Mlkl T C 8: 112,060,162 (GRCm39) I75V probably benign Het
Ndufa7 T A 17: 34,057,140 (GRCm39) S107T probably damaging Het
Niban3 T A 8: 72,057,671 (GRCm39) C516S possibly damaging Het
Nip7 T A 8: 107,783,968 (GRCm39) C69* probably null Het
Nipa2 A T 7: 55,583,089 (GRCm39) W219R probably damaging Het
Oas2 A C 5: 120,887,775 (GRCm39) S22A unknown Het
Obscn A G 11: 59,022,483 (GRCm39) V754A probably benign Het
Or4a76 G A 2: 89,461,012 (GRCm39) P77S probably damaging Het
Osbpl1a C T 18: 13,066,642 (GRCm39) C39Y probably damaging Het
Pcdhb16 A T 18: 37,612,606 (GRCm39) Y522F probably benign Het
Pced1a T G 2: 130,261,744 (GRCm39) D303A possibly damaging Het
Peli1 T A 11: 21,098,190 (GRCm39) Y308* probably null Het
Pfas T A 11: 68,879,481 (GRCm39) R243W Het
Pik3r5 C A 11: 68,383,416 (GRCm39) Q412K probably benign Het
Pkd1l1 A T 11: 8,852,428 (GRCm39) I1135N Het
Prune1 C A 3: 95,189,021 (GRCm39) probably benign Het
Ptpre A G 7: 135,269,329 (GRCm39) N277S probably benign Het
Raver2 A T 4: 100,964,410 (GRCm39) D255V possibly damaging Het
Rgs20 A G 1: 4,980,857 (GRCm39) V187A probably benign Het
Rgs3 A G 4: 62,543,391 (GRCm39) E242G probably benign Het
Rims2 T G 15: 39,381,235 (GRCm39) S1055R probably benign Het
Rnf146 T C 10: 29,223,640 (GRCm39) D82G probably benign Het
Rpgrip1 A G 14: 52,378,016 (GRCm39) S455G probably benign Het
Samm50 T C 15: 84,080,057 (GRCm39) probably null Het
Sh3bgr A G 16: 96,007,122 (GRCm39) K31E probably benign Het
Slc39a8 T C 3: 135,592,672 (GRCm39) I449T probably damaging Het
Slc5a3 A T 16: 91,875,905 (GRCm39) Y654F probably benign Het
Spata1 T A 3: 146,181,977 (GRCm39) L264F possibly damaging Het
Spats2l A T 1: 57,838,512 (GRCm39) probably benign Het
Stard13 A C 5: 150,971,064 (GRCm39) S848A probably damaging Het
Stat2 A G 10: 128,112,434 (GRCm39) S25G possibly damaging Het
Tet2 C T 3: 133,186,050 (GRCm39) R1129Q possibly damaging Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tmem266 T C 9: 55,303,883 (GRCm39) L3P unknown Het
Tns3 A T 11: 8,442,793 (GRCm39) D523E probably benign Het
Trim3 A T 7: 105,267,015 (GRCm39) S455T probably damaging Het
Trim31 T C 17: 37,220,554 (GRCm39) V490A probably damaging Het
Trmt11 A C 10: 30,466,039 (GRCm39) N168K probably benign Het
Trpc4 G A 3: 54,198,653 (GRCm39) V526M probably damaging Het
Ttn C A 2: 76,749,482 (GRCm39) D3856Y possibly damaging Het
Tulp2 G A 7: 45,169,227 (GRCm39) D377N probably damaging Het
Ubl7 A G 9: 57,821,875 (GRCm39) T75A probably damaging Het
Ugt2b34 T G 5: 87,049,134 (GRCm39) D297A possibly damaging Het
Usp34 A T 11: 23,314,458 (GRCm39) H800L possibly damaging Het
Utp3 C A 5: 88,703,412 (GRCm39) L314M probably damaging Het
Zer1 A G 2: 30,003,337 (GRCm39) Y27H 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
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'- TCGTCGTTCAGAGCAAAGC -3'
(R):5'- GGTAAAACTTCTAACTCCGTTCTG -3'

Sequencing Primer
(F):5'- TGGTCAACCATGTGAGTAATAGG -3'
(R):5'- AACTCCGTTCTGTTTCATGTTTTAAG -3'
Posted On 2019-10-07