Incidental Mutation 'R2901:Ptp4a1'
ID 261455
Institutional Source Beutler Lab
Gene Symbol Ptp4a1
Ensembl Gene ENSMUSG00000026064
Gene Name protein tyrosine phosphatase 4a1
Synonyms Prl-1
MMRRC Submission 040489-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2901 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 30979384-30988846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30982385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 142 (N142D)
Ref Sequence ENSEMBL: ENSMUSP00000110861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027232] [ENSMUST00000076587] [ENSMUST00000202889]
AlphaFold Q63739
Predicted Effect possibly damaging
Transcript: ENSMUST00000027232
AA Change: N142D

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027232
Gene: ENSMUSG00000026064
AA Change: N142D

DomainStartEndE-ValueType
Pfam:DSPc 26 153 2.8e-10 PFAM
Pfam:Y_phosphatase 51 151 1.2e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000076587
AA Change: N142D

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110861
Gene: ENSMUSG00000026064
AA Change: N142D

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
Meta Mutation Damage Score 0.6257 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (33/33)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T A 8: 10,038,231 (GRCm39) M276K probably damaging Het
Angpt4 G T 2: 151,753,259 (GRCm39) C3F unknown Het
C1qtnf1 A G 11: 118,338,930 (GRCm39) probably null Het
Cep192 C T 18: 68,002,512 (GRCm39) R2236C possibly damaging Het
Cep68 A G 11: 20,190,187 (GRCm39) L275P probably damaging Het
Clvs1 A G 4: 9,281,972 (GRCm39) K139E probably damaging Het
Col25a1 A T 3: 130,340,040 (GRCm39) E351V probably damaging Het
Dnah7a A T 1: 53,467,031 (GRCm39) L3611Q probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gm3336 T C 8: 71,173,275 (GRCm39) S96P possibly damaging Het
Gm9845 T A 3: 39,412,742 (GRCm39) noncoding transcript Het
Klf12 G T 14: 100,137,582 (GRCm39) F321L probably damaging Het
Klhl20 G T 1: 160,937,122 (GRCm39) C84* probably null Het
Krt23 T C 11: 99,374,797 (GRCm39) D260G probably damaging Het
Lpin1 T C 12: 16,603,999 (GRCm39) K578E probably benign Het
Mgat4f T C 1: 134,318,662 (GRCm39) L478P probably damaging Het
Mrc1 A G 2: 14,333,354 (GRCm39) H1345R possibly damaging Het
Nme8 A T 13: 19,859,834 (GRCm39) V23E probably benign Het
Or10w1 C T 19: 13,632,309 (GRCm39) P167L probably damaging Het
Or8g34 T A 9: 39,373,234 (GRCm39) I169N probably damaging Het
Prf1 A T 10: 61,136,098 (GRCm39) N125Y probably damaging Het
Simc1 G A 13: 54,689,331 (GRCm39) probably null Het
Snai2 T C 16: 14,523,847 (GRCm39) S4P possibly damaging Het
Ssc4d G A 5: 135,993,517 (GRCm39) P113L possibly damaging Het
Stmn2 A G 3: 8,606,981 (GRCm39) I34V probably benign Het
Tspoap1 C T 11: 87,668,801 (GRCm39) P1358L probably benign Het
Ubr3 T C 2: 69,846,536 (GRCm39) S1620P possibly damaging Het
Vps51 G A 19: 6,126,468 (GRCm39) R95W probably damaging Het
Zup1 C T 10: 33,803,608 (GRCm39) R492Q probably damaging Het
Zup1 T C 10: 33,804,059 (GRCm39) T472A probably benign 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
R2696:Ptp4a1 UTSW 1 30,985,213 (GRCm39) missense probably benign 0.01
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'- GCCGACACATTGGGTAATATGC -3'
(R):5'- TGCTGAGATACATATAGCTGGGG -3'

Sequencing Primer
(F):5'- CCGACACATTGGGTAATATGCATGAC -3'
(R):5'- GGTTGTTTTGACCTAGACTCAATC -3'
Posted On 2015-01-23