Incidental Mutation 'R2696:Ptp4a1'
ID 250991
Institutional Source Beutler Lab
Gene Symbol Ptp4a1
Ensembl Gene ENSMUSG00000026064
Gene Name protein tyrosine phosphatase 4a1
Synonyms Prl-1
MMRRC Submission 040434-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2696 (G1)
Quality Score 95
Status Not validated
Chromosome 1
Chromosomal Location 30979384-30988846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30985213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 4 (M4K)
Ref Sequence ENSEMBL: ENSMUSP00000110861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027232] [ENSMUST00000076587] [ENSMUST00000202889]
AlphaFold Q63739
Predicted Effect probably benign
Transcript: ENSMUST00000027232
AA Change: M4K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000027232
Gene: ENSMUSG00000026064
AA Change: M4K

DomainStartEndE-ValueType
Pfam:DSPc 26 153 2.8e-10 PFAM
Pfam:Y_phosphatase 51 151 1.2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076587
AA Change: M4K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000110861
Gene: ENSMUSG00000026064
AA Change: M4K

DomainStartEndE-ValueType
Pfam:DSPc 25 155 5.8e-12 PFAM
Pfam:Y_phosphatase 52 152 3.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130934
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153681
Predicted Effect probably benign
Transcript: ENSMUST00000202889
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small class of prenylated protein tyrosine phosphatases (PTPs), which contain a PTP domain and a characteristic C-terminal prenylation motif. The encoded protein is a cell signaling molecule that plays regulatory roles in a variety of cellular processes, including cell proliferation and migration. The protein may also be involved in cancer development and metastasis. This tyrosine phosphatase is a nuclear protein, but may associate with plasma membrane by means of its prenylation motif. Pseudogenes related to this gene are located on chromosomes 1, 2, 5, 7, 11 and X. [provided by RefSeq, Jun 2013]
PHENOTYPE: Single homozygous KO leads to an increase in preweaning lethality. Homozygous KO in combination with homozygous KO of Ptp4a2 (Ptp4a2Gt(AQ0673)Wtsi) is embryonic lethal. Heterozygous-homozygous and homozygous-heterozygous KO combinations lead to reduced male fertility, with the het-hom combination exacerbating the phenotype of single homozygous Ptp4a2 KO. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,668,228 (GRCm39) T540S probably benign Het
Acp7 G T 7: 28,314,001 (GRCm39) H369Q probably benign Het
Adgrg3 A G 8: 95,747,702 (GRCm39) N65S probably benign Het
Anln A G 9: 22,272,259 (GRCm39) V620A probably benign Het
Atp10a T A 7: 58,463,366 (GRCm39) S966R probably benign Het
Atp8b3 T A 10: 80,370,017 (GRCm39) Q132L possibly damaging Het
Col4a1 T A 8: 11,285,092 (GRCm39) probably null Het
Ddx21 T C 10: 62,429,871 (GRCm39) H291R possibly damaging Het
Dlgap3 A G 4: 127,088,416 (GRCm39) Y4C probably damaging Het
Dnah5 A G 15: 28,278,722 (GRCm39) N1106D probably benign Het
Esyt1 T C 10: 128,352,914 (GRCm39) D662G probably damaging Het
F830016B08Rik T A 18: 60,433,808 (GRCm39) V297E possibly damaging Het
Faf1 T A 4: 109,698,525 (GRCm39) N328K possibly damaging Het
Gdf3 A C 6: 122,583,859 (GRCm39) F169L probably benign Het
Ifi213 G A 1: 173,417,590 (GRCm39) T274I probably benign Het
Igf2r T C 17: 12,914,231 (GRCm39) D1746G possibly damaging Het
Ighv1-75 T C 12: 115,797,826 (GRCm39) K32R probably benign Het
Ipo8 T A 6: 148,698,239 (GRCm39) Q594L probably benign Het
Krt87 A T 15: 101,384,890 (GRCm39) I402N probably benign Het
Med18 G A 4: 132,187,281 (GRCm39) R118W probably damaging Het
Mmrn2 A G 14: 34,120,372 (GRCm39) E414G probably damaging Het
Myo6 A G 9: 80,168,176 (GRCm39) T447A probably benign Het
Ncoa6 T C 2: 155,279,935 (GRCm39) E27G probably benign Het
Ngly1 T C 14: 16,283,439 (GRCm38) L406S possibly damaging Het
Or14j1 T C 17: 38,145,998 (GRCm39) I36T probably benign Het
Or51l4 A G 7: 103,404,735 (GRCm39) I19T probably damaging Het
Phldb1 T C 9: 44,629,585 (GRCm39) Y156C probably damaging Het
Pkd2l1 T A 19: 44,145,708 (GRCm39) T172S probably benign Het
Pknox2 G A 9: 36,820,987 (GRCm39) R292* probably null Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Polr3e T C 7: 120,532,600 (GRCm39) L212P probably damaging Het
Ppp4r4 A G 12: 103,547,653 (GRCm39) I215M possibly damaging Het
Psmg2 T C 18: 67,781,288 (GRCm39) Y127H possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
R3hcc1l A T 19: 42,552,427 (GRCm39) I475L possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rsf1 GGC GGCGGCGGCGGC 7: 97,229,140 (GRCm39) probably benign Het
Sec63 T A 10: 42,659,522 (GRCm39) I70N probably benign Het
Slc2a5 A C 4: 150,205,203 (GRCm39) K4T probably benign Het
Slc4a3 A G 1: 75,532,119 (GRCm39) Y939C possibly damaging Het
Slc7a15 T C 12: 8,579,345 (GRCm39) *229W probably null Het
Slco1a6 C A 6: 142,058,662 (GRCm39) G206C probably damaging Het
Spata9 A G 13: 76,125,895 (GRCm39) Q126R probably benign Het
Speg A T 1: 75,383,570 (GRCm39) D1186V probably benign Het
Spink5 T G 18: 44,115,359 (GRCm39) M197R probably damaging Het
Stab2 T C 10: 86,697,363 (GRCm39) D1975G probably benign Het
Syngap1 T A 17: 27,176,385 (GRCm39) C224* probably null Het
Ttn T C 2: 76,698,807 (GRCm39) probably benign Het
Txnrd1 G A 10: 82,721,116 (GRCm39) E397K probably benign Het
Ugt2b36 A T 5: 87,237,344 (GRCm39) M313K probably damaging Het
Ulk3 A G 9: 57,497,724 (GRCm39) I74V possibly damaging Het
Zcchc4 T C 5: 52,953,573 (GRCm39) V194A probably damaging Het
Zfp27 C T 7: 29,595,792 (GRCm39) A58T possibly damaging Het
Zfp398 T G 6: 47,843,879 (GRCm39) *512E probably null Het
Other mutations in Ptp4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0798:Ptp4a1 UTSW 1 30,984,005 (GRCm39) unclassified probably benign
R0972:Ptp4a1 UTSW 1 30,984,080 (GRCm39) missense possibly damaging 0.94
R2901:Ptp4a1 UTSW 1 30,982,385 (GRCm39) missense possibly damaging 0.94
R4796:Ptp4a1 UTSW 1 30,983,019 (GRCm39) missense probably damaging 0.97
R5407:Ptp4a1 UTSW 1 30,984,044 (GRCm39) missense probably benign 0.34
R9257:Ptp4a1 UTSW 1 30,985,346 (GRCm39) unclassified probably benign
Z1176:Ptp4a1 UTSW 1 30,983,650 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TTCTTCTCTGGGAGCGAGAG -3'
(R):5'- GGAGGTTCATTTCATTGCCCG -3'

Sequencing Primer
(F):5'- GCAGACCCACTATTAACTGT -3'
(R):5'- TCAAGCACTGAGAATTTCAAGTGG -3'
Posted On 2014-12-04