Incidental Mutation 'R8208:Ptp4a2'
ID 636000
Institutional Source Beutler Lab
Gene Symbol Ptp4a2
Ensembl Gene ENSMUSG00000028788
Gene Name protein tyrosine phosphatase 4a2
Synonyms Prl-2
MMRRC Submission 067631-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8208 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 129714262-129743796 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129736485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 40 (T40I)
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: T40I

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030578
Gene: ENSMUSG00000028788
AA Change: T40I

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: T40I

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125901
Gene: ENSMUSG00000028788
AA Change: T40I

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: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (47/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 G A 6: 58,642,227 (GRCm39) V172I possibly damaging Het
Agbl1 T A 7: 76,369,916 (GRCm39) C924S unknown Het
Arhgap11a T C 2: 113,673,284 (GRCm39) S100G probably benign Het
Chd9 T A 8: 91,763,891 (GRCm39) probably null Het
Col1a2 T A 6: 4,515,260 (GRCm39) probably null Het
Colec10 C G 15: 54,325,696 (GRCm39) H175Q possibly damaging Het
Cyp46a1 A T 12: 108,318,171 (GRCm39) probably null Het
Dennd4b T A 3: 90,178,278 (GRCm39) I501N possibly damaging Het
Dnah2 A G 11: 69,411,678 (GRCm39) F315L probably benign Het
Emilin1 A G 5: 31,074,860 (GRCm39) E367G probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Folh1 A T 7: 86,375,125 (GRCm39) H620Q probably damaging Het
Galnt10 A T 11: 57,536,398 (GRCm39) E5V possibly damaging Het
Gmcl1 A G 6: 86,698,381 (GRCm39) V172A probably damaging Het
Greb1l T C 18: 10,510,703 (GRCm39) L599P probably damaging Het
Hcn2 T A 10: 79,566,778 (GRCm39) M485K possibly damaging Het
Hirip3 G T 7: 126,463,595 (GRCm39) C494F probably damaging Het
Hsfy2 A G 1: 56,676,310 (GRCm39) F76L probably benign Het
Lamc3 A G 2: 31,777,426 (GRCm39) H24R possibly damaging Het
Laptm4b G A 15: 34,277,591 (GRCm39) S174N probably damaging Het
Lgals8 A G 13: 12,468,255 (GRCm39) Y125H probably damaging Het
Mapk14 A T 17: 28,943,807 (GRCm39) Y132F probably damaging Het
Mxd4 A T 5: 34,335,070 (GRCm39) I115N probably benign Het
Ndufaf1 T C 2: 119,490,827 (GRCm39) T80A probably benign Het
Or10ag53 A G 2: 87,083,007 (GRCm39) K242R probably benign Het
Or11h6 T C 14: 50,880,088 (GRCm39) F117L probably benign Het
Or56a5 T A 7: 104,792,625 (GRCm39) I298F probably damaging Het
Or5k3 C A 16: 58,969,382 (GRCm39) H56Q probably benign Het
Pcf11 G T 7: 92,298,731 (GRCm39) N1268K probably damaging Het
Plcl2 T C 17: 50,915,343 (GRCm39) V784A probably damaging Het
Rab2b C T 14: 52,502,224 (GRCm39) A159T possibly damaging Het
Sec61a2 G T 2: 5,881,809 (GRCm39) T207K probably benign Het
Serpina5 A G 12: 104,071,532 (GRCm39) I380V probably benign Het
Slc26a2 C T 18: 61,331,806 (GRCm39) V542M probably damaging Het
Snd1 C T 6: 28,526,054 (GRCm39) P144L possibly damaging Het
Spop C T 11: 95,382,650 (GRCm39) R370C probably damaging Het
Sptbn1 T C 11: 30,074,972 (GRCm39) D1300G probably damaging Het
Sptbn5 T A 2: 119,878,326 (GRCm39) K891* noncoding transcript Het
Tnrc6b G A 15: 80,742,901 (GRCm39) E45K possibly damaging Het
Tpst1 A G 5: 130,130,751 (GRCm39) I74V probably benign Het
Ttn T C 2: 76,556,192 (GRCm39) H30271R probably damaging Het
Ush2a G T 1: 188,606,990 (GRCm39) A3962S possibly damaging Het
Vmn1r200 G A 13: 22,579,470 (GRCm39) R91H probably damaging Het
Vmn2r22 T A 6: 123,614,444 (GRCm39) N382I probably damaging Het
Vmn2r53 A G 7: 12,335,322 (GRCm39) S113P probably damaging Het
Zfp335 C A 2: 164,735,536 (GRCm39) probably null 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
R8312:Ptp4a2 UTSW 4 129,733,427 (GRCm39) missense probably benign 0.06
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'- ACAAGGAGTCTGTGTCTGCTG -3'
(R):5'- GATAACACTGCTCACGATTGATCC -3'

Sequencing Primer
(F):5'- CTGTGTCTGCTGTGCTCATGC -3'
(R):5'- CCGTTAGGAGACTGCTATTAAACTGC -3'
Posted On 2020-07-13