Incidental Mutation 'R8312:Ptp4a2'
ID 641432
Institutional Source Beutler Lab
Gene Symbol Ptp4a2
Ensembl Gene ENSMUSG00000028788
Gene Name protein tyrosine phosphatase 4a2
Synonyms Prl-2
MMRRC Submission 067718-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8312 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 129714262-129743796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129733427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 18 (I18L)
Ref Sequence ENSEMBL: ENSMUSP00000030578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030578] [ENSMUST00000165853]
AlphaFold O70274
Predicted Effect probably benign
Transcript: ENSMUST00000030578
AA Change: I18L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030578
Gene: ENSMUSG00000028788
AA Change: I18L

DomainStartEndE-ValueType
Pfam:Y_phosphatase 10 148 2e-9 PFAM
Pfam:DSPc 22 150 7.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165853
AA Change: I18L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125901
Gene: ENSMUSG00000028788
AA Change: I18L

DomainStartEndE-ValueType
Pfam:DSPc 22 151 2.9e-10 PFAM
Pfam:Y_phosphatase 47 149 1e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a small class of the protein tyrosine phosphatase (PTP) family. PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. PTPs in this class contain a protein tyrosine phosphatase catalytic domain and a characteristic C-terminal prenylation motif. This PTP has been shown to primarily associate with plasmic and endosomal membrane through its C-terminal prenylation. This PTP was found to interact with the beta-subunit of Rab geranylgeranyltransferase II (beta GGT II), and thus may function as a regulator of GGT II activity. Overexpression of this gene in mammalian cells conferred a transformed phenotype, which suggested its role in tumorigenesis. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 11, 12 and 17. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit growth retardation associated with reduced decidual, spongiotrophoblast (due to reduced cell proliferation) and placental labyrinth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T C 12: 84,662,190 (GRCm39) R23G probably damaging Het
Abraxas2 A G 7: 132,478,329 (GRCm39) Y163C probably damaging Het
Acnat1 A T 4: 49,449,142 (GRCm39) L208* probably null Het
Agbl5 A G 5: 31,051,850 (GRCm39) E556G probably damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Arih2 A G 9: 108,521,473 (GRCm39) S2P probably damaging Het
C87436 T A 6: 86,434,813 (GRCm39) L387Q probably damaging Het
Card9 A T 2: 26,247,801 (GRCm39) Y183* probably null Het
Cdk14 T C 5: 4,944,141 (GRCm39) D394G probably benign Het
Cep135 C T 5: 76,784,746 (GRCm39) S947L probably damaging Het
Cfb T C 17: 35,077,121 (GRCm39) K505E probably benign Het
Cnot4 T A 6: 35,000,076 (GRCm39) D708V probably damaging Het
Col16a1 T A 4: 129,948,244 (GRCm39) L281M unknown Het
Col6a3 G T 1: 90,741,412 (GRCm39) D673E possibly damaging Het
Ctdnep1 G A 11: 69,879,527 (GRCm39) S150N probably benign Het
Fanca T A 8: 123,996,549 (GRCm39) probably benign Het
Fras1 T A 5: 96,736,050 (GRCm39) N548K probably benign Het
Gbp2b A G 3: 142,304,812 (GRCm39) M83V probably benign Het
Gbp2b C A 3: 142,304,815 (GRCm39) P84T probably damaging Het
Gli2 A T 1: 118,795,842 (GRCm39) probably benign Het
Greb1l A G 18: 10,511,587 (GRCm39) probably benign Het
Grn A C 11: 102,327,073 (GRCm39) K557T probably damaging Het
Hapln1 C T 13: 89,749,563 (GRCm39) A36V probably benign Het
Heg1 C T 16: 33,547,045 (GRCm39) R635W probably benign Het
Hivep1 C A 13: 42,308,653 (GRCm39) Q298K possibly damaging Het
Hmcn1 A G 1: 150,614,515 (GRCm39) I1297T probably damaging Het
Hp1bp3 T A 4: 137,950,750 (GRCm39) probably benign Het
Htr4 C G 18: 62,570,549 (GRCm39) F201L probably damaging Het
Insrr C G 3: 87,707,791 (GRCm39) Q78E possibly damaging Het
Itga6 A T 2: 71,686,297 (GRCm39) M1072L probably benign Het
Kdsr A G 1: 106,675,216 (GRCm39) probably null Het
Klhl7 T C 5: 24,339,965 (GRCm39) I149T probably damaging Het
Lce1l G C 3: 92,757,766 (GRCm39) P31A unknown Het
Mag T C 7: 30,610,894 (GRCm39) Y116C probably damaging Het
Mast2 A G 4: 116,287,683 (GRCm39) S131P probably benign Het
Mlec C A 5: 115,288,266 (GRCm39) probably null Het
Mrap2 G A 9: 87,051,712 (GRCm39) probably null Het
Myo5b A G 18: 74,867,033 (GRCm39) K1395E probably damaging Het
Nipa2 G A 7: 55,583,050 (GRCm39) Q232* probably null Het
Nsd3 C T 8: 26,153,268 (GRCm39) T536M probably damaging Het
Oit3 T C 10: 59,274,632 (GRCm39) N56S probably benign Het
Or10p22 A G 10: 128,826,347 (GRCm39) T189A probably benign Het
Or13c7 A T 4: 43,854,461 (GRCm39) I51F probably benign Het
Or2m13 T C 16: 19,225,987 (GRCm39) M260V probably benign Het
Pax3 C T 1: 78,172,006 (GRCm39) R68Q probably damaging Het
Pcnx2 G T 8: 126,489,589 (GRCm39) H1668Q possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pkd1 A G 17: 24,786,102 (GRCm39) S463G probably benign Het
Plb1 C T 5: 32,485,829 (GRCm39) T871M probably damaging Het
Prdx1 A G 4: 116,556,398 (GRCm39) D182G possibly damaging Het
Prkch T A 12: 73,807,358 (GRCm39) F593I noncoding transcript Het
Psrc1 C T 3: 108,293,673 (GRCm39) P194L probably benign Het
Samd10 A T 2: 181,238,668 (GRCm39) L153H probably damaging Het
Shc3 T G 13: 51,596,754 (GRCm39) H423P probably damaging Het
Siae A T 9: 37,557,593 (GRCm39) I467F Het
Slc27a5 C T 7: 12,725,214 (GRCm39) R411Q probably damaging Het
Spata24 A G 18: 35,793,861 (GRCm39) I56T probably benign Het
Spns3 G A 11: 72,390,534 (GRCm39) T407M probably damaging Het
Spta1 G A 1: 174,067,777 (GRCm39) C2068Y probably damaging Het
Svs5 C A 2: 164,080,091 (GRCm39) G25W probably damaging Het
Thsd7a T C 6: 12,471,181 (GRCm39) D479G Het
Trhde T C 10: 114,249,192 (GRCm39) Y858C probably damaging Het
Ttn G A 2: 76,781,992 (GRCm39) R1057C unknown Het
Tulp4 G T 17: 6,257,333 (GRCm39) probably null Het
Tyk2 T C 9: 21,026,945 (GRCm39) T613A possibly damaging Het
Ugt2b37 T C 5: 87,390,799 (GRCm39) K356R probably benign Het
Vmn1r39 A G 6: 66,781,841 (GRCm39) V159A noncoding transcript Het
Vps35 A G 8: 86,001,498 (GRCm39) V440A possibly damaging Het
Zmym6 A G 4: 127,017,627 (GRCm39) N1136S probably damaging Het
Other mutations in Ptp4a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02942:Ptp4a2 APN 4 129,738,986 (GRCm39) critical splice donor site probably null
R1082:Ptp4a2 UTSW 4 129,741,580 (GRCm39) missense probably benign
R1405:Ptp4a2 UTSW 4 129,738,851 (GRCm39) splice site probably benign
R4591:Ptp4a2 UTSW 4 129,740,308 (GRCm39) missense probably benign 0.16
R7963:Ptp4a2 UTSW 4 129,733,237 (GRCm39) start gained probably benign
R8208:Ptp4a2 UTSW 4 129,736,485 (GRCm39) missense probably benign 0.11
R8768:Ptp4a2 UTSW 4 129,740,299 (GRCm39) missense probably damaging 0.98
R8919:Ptp4a2 UTSW 4 129,738,945 (GRCm39) missense possibly damaging 0.90
RF017:Ptp4a2 UTSW 4 129,733,237 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GCTTCCTAAGGAACAAGCAAG -3'
(R):5'- GTTTTAGATGCGTACCTTGACC -3'

Sequencing Primer
(F):5'- TCCTAAGGAACAAGCAAGTTGAATAG -3'
(R):5'- GCTTACTGCAATGCTGAGTAC -3'
Posted On 2020-07-28