Incidental Mutation 'R6544:Tpte'
ID 521021
Institutional Source Beutler Lab
Gene Symbol Tpte
Ensembl Gene ENSMUSG00000031481
Gene Name transmembrane phosphatase with tensin homology
Synonyms Vsp, Pten2
MMRRC Submission 044670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6544 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 22773457-22861432 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 22805121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077194] [ENSMUST00000211497] [ENSMUST00000211747]
AlphaFold G5E8H5
Predicted Effect probably null
Transcript: ENSMUST00000077194
SMART Domains Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481

DomainStartEndE-ValueType
low complexity region 146 167 N/A INTRINSIC
transmembrane domain 212 231 N/A INTRINSIC
transmembrane domain 246 265 N/A INTRINSIC
transmembrane domain 277 299 N/A INTRINSIC
low complexity region 307 329 N/A INTRINSIC
Pfam:Y_phosphatase 369 511 1.4e-6 PFAM
Pfam:DSPc 384 505 7.3e-8 PFAM
PTEN_C2 529 663 3.72e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000211497
Predicted Effect probably benign
Transcript: ENSMUST00000211747
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005K14Rik T A 1: 83,036,678 (GRCm39) K118* probably null Het
Actr2 A G 11: 20,050,933 (GRCm39) F17L probably damaging Het
Adam26b T C 8: 43,974,818 (GRCm39) I61M probably damaging Het
Ahcyl A C 16: 45,975,147 (GRCm39) S77A probably benign Het
Ahnak2 A G 12: 112,746,829 (GRCm39) probably benign Het
Angptl3 T C 4: 98,919,675 (GRCm39) L145P probably damaging Het
Ank2 T C 3: 126,726,871 (GRCm39) T808A probably damaging Het
Ark2c T A 18: 77,650,931 (GRCm39) probably benign Het
Cadm3 A G 1: 173,194,977 (GRCm39) probably null Het
Cog7 C T 7: 121,534,966 (GRCm39) R573Q probably damaging Het
Dchs1 T A 7: 105,407,385 (GRCm39) I2110F probably damaging Het
Fbxo47 G A 11: 97,747,089 (GRCm39) R326C probably damaging Het
Frmpd1 A T 4: 45,279,024 (GRCm39) D583V probably damaging Het
Gigyf1 T A 5: 137,523,321 (GRCm39) L911Q probably damaging Het
Gprin1 G A 13: 54,888,124 (GRCm39) A50V possibly damaging Het
Grik4 A T 9: 42,459,024 (GRCm39) Y571* probably null Het
Gucy2e A G 11: 69,126,483 (GRCm39) V299A probably benign Het
Hectd2 C T 19: 36,589,728 (GRCm39) L618F probably damaging Het
Lactbl1 A T 4: 136,360,300 (GRCm39) I160F possibly damaging Het
Lats1 T A 10: 7,577,434 (GRCm39) V186D possibly damaging Het
Lmtk2 A G 5: 144,110,624 (GRCm39) H448R possibly damaging Het
Map10 T C 8: 126,398,113 (GRCm39) I502T probably benign Het
Mok A G 12: 110,777,189 (GRCm39) F239S probably damaging Het
Mprip G A 11: 59,648,552 (GRCm39) G752D probably benign Het
Naip5 C A 13: 100,359,652 (GRCm39) G528V possibly damaging Het
Neu2 T C 1: 87,524,464 (GRCm39) W150R probably damaging Het
Or1ak2 T A 2: 36,827,539 (GRCm39) M136K possibly damaging Het
Or5an1 T C 19: 12,260,519 (GRCm39) Y36H probably damaging Het
Or5as1 T A 2: 86,980,207 (GRCm39) Y266F probably damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Pip5k1c T A 10: 81,144,830 (GRCm39) Y224N probably damaging Het
Plch1 T C 3: 63,758,399 (GRCm39) E5G probably damaging Het
Pspc1 T C 14: 57,001,660 (GRCm39) *59W probably null Het
Ptprq T C 10: 107,444,102 (GRCm39) T1501A probably damaging Het
Rorb G T 19: 18,929,614 (GRCm39) P304T possibly damaging Het
Scn7a A T 2: 66,514,444 (GRCm39) L1110Q probably damaging Het
Serpine2 C T 1: 79,780,847 (GRCm39) probably null Het
Slco1c1 A G 6: 141,477,170 (GRCm39) probably null Het
Smarca2 T A 19: 26,608,331 (GRCm39) V130D probably damaging Het
Sox17 G T 1: 4,562,655 (GRCm39) P117T possibly damaging Het
Sparcl1 A T 5: 104,240,310 (GRCm39) Y371* probably null Het
Tdpoz2 T C 3: 93,559,267 (GRCm39) D235G possibly damaging Het
Tns2 A C 15: 102,022,269 (GRCm39) K1182N possibly damaging Het
Ttn A T 2: 76,799,503 (GRCm39) I459K possibly damaging Het
Wdr97 T C 15: 76,242,478 (GRCm39) Y823H probably benign Het
Zc3h15 G A 2: 83,491,492 (GRCm39) R240H probably benign Het
Zfp455 C A 13: 67,355,121 (GRCm39) L130I probably benign Het
Zfp777 A T 6: 48,021,419 (GRCm39) S68T probably damaging Het
Other mutations in Tpte
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Tpte APN 8 22,810,898 (GRCm39) missense probably benign 0.03
IGL01456:Tpte APN 8 22,835,068 (GRCm39) splice site probably benign
IGL01947:Tpte APN 8 22,845,489 (GRCm39) missense possibly damaging 0.88
IGL01975:Tpte APN 8 22,839,353 (GRCm39) missense probably damaging 1.00
IGL02458:Tpte APN 8 22,795,874 (GRCm39) missense probably benign
IGL03411:Tpte APN 8 22,815,553 (GRCm39) missense possibly damaging 0.64
R0158:Tpte UTSW 8 22,817,755 (GRCm39) missense possibly damaging 0.47
R0396:Tpte UTSW 8 22,825,624 (GRCm39) splice site probably benign
R0611:Tpte UTSW 8 22,826,549 (GRCm39) missense possibly damaging 0.68
R1481:Tpte UTSW 8 22,845,487 (GRCm39) missense probably damaging 1.00
R1489:Tpte UTSW 8 22,839,405 (GRCm39) critical splice donor site probably null
R1569:Tpte UTSW 8 22,835,047 (GRCm39) missense probably damaging 0.98
R1632:Tpte UTSW 8 22,839,363 (GRCm39) missense probably damaging 0.98
R1639:Tpte UTSW 8 22,810,913 (GRCm39) missense probably benign 0.00
R2030:Tpte UTSW 8 22,835,901 (GRCm39) missense probably damaging 1.00
R2057:Tpte UTSW 8 22,808,355 (GRCm39) missense probably benign 0.13
R2519:Tpte UTSW 8 22,823,176 (GRCm39) splice site probably benign
R2655:Tpte UTSW 8 22,801,294 (GRCm39) critical splice acceptor site probably null
R2884:Tpte UTSW 8 22,825,439 (GRCm39) nonsense probably null
R3033:Tpte UTSW 8 22,810,888 (GRCm39) missense possibly damaging 0.84
R3734:Tpte UTSW 8 22,849,498 (GRCm39) missense probably damaging 1.00
R3961:Tpte UTSW 8 22,849,431 (GRCm39) missense probably damaging 0.99
R4050:Tpte UTSW 8 22,856,000 (GRCm39) missense probably damaging 1.00
R4591:Tpte UTSW 8 22,817,791 (GRCm39) missense probably benign 0.08
R4994:Tpte UTSW 8 22,808,362 (GRCm39) missense probably benign 0.23
R5321:Tpte UTSW 8 22,787,219 (GRCm39) nonsense probably null
R5394:Tpte UTSW 8 22,817,806 (GRCm39) missense probably damaging 1.00
R5588:Tpte UTSW 8 22,774,983 (GRCm39) missense possibly damaging 0.95
R5590:Tpte UTSW 8 22,841,468 (GRCm39) missense probably damaging 1.00
R5670:Tpte UTSW 8 22,817,764 (GRCm39) missense probably damaging 1.00
R6596:Tpte UTSW 8 22,823,285 (GRCm39) missense probably damaging 0.99
R6729:Tpte UTSW 8 22,845,491 (GRCm39) missense probably damaging 1.00
R7120:Tpte UTSW 8 22,817,689 (GRCm39) missense probably damaging 1.00
R7526:Tpte UTSW 8 22,815,563 (GRCm39) critical splice donor site probably null
R7575:Tpte UTSW 8 22,845,498 (GRCm39) missense probably damaging 1.00
R9099:Tpte UTSW 8 22,845,497 (GRCm39) missense
R9248:Tpte UTSW 8 22,841,489 (GRCm39) missense possibly damaging 0.95
R9393:Tpte UTSW 8 22,774,990 (GRCm39) missense probably benign
R9682:Tpte UTSW 8 22,841,493 (GRCm39) missense probably damaging 1.00
RF006:Tpte UTSW 8 22,796,959 (GRCm39) missense probably benign
Z1176:Tpte UTSW 8 22,823,209 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGTGCAAATGTTAGCCAGTC -3'
(R):5'- GACCATGTCTACAATTCTCCACG -3'

Sequencing Primer
(F):5'- GTGTGCAAATGTTAGCCAGTCTATAG -3'
(R):5'- GCCCCTGTGTATAAGGTTACATCTG -3'
Posted On 2018-06-06