Incidental Mutation 'R4232:Tiprl'
Institutional Source Beutler Lab
Gene Symbol Tiprl
Ensembl Gene ENSMUSG00000040843
Gene NameTIP41, TOR signalling pathway regulator-like (S. cerevisiae)
MMRRC Submission 041051-MU
Accession Numbers

Genbank: NM_145513; MGI: 1915087

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4232 (G1)
Quality Score225
Status Validated
Chromosomal Location165212286-165236996 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 165222587 bp
Amino Acid Change Valine to Alanine at position 153 (V153A)
Ref Sequence ENSEMBL: ENSMUSP00000037514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043235] [ENSMUST00000192436] [ENSMUST00000195248]
Predicted Effect probably damaging
Transcript: ENSMUST00000043235
AA Change: V153A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037514
Gene: ENSMUSG00000040843
AA Change: V153A

Pfam:TIP41 48 225 1.7e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142191
Predicted Effect probably benign
Transcript: ENSMUST00000192436
Predicted Effect probably benign
Transcript: ENSMUST00000195248
Meta Mutation Damage Score 0.6845 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 92% (58/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TIPRL is an inhibitory regulator of protein phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 612725) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM, Nov 2010]
Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 70,394,529 A53T probably benign Het
Ajuba T C 14: 54,569,526 R490G probably damaging Het
Akap6 T A 12: 53,139,671 N1289K probably damaging Het
Arhgap21 A G 2: 20,887,137 V161A probably damaging Het
Atg14 T C 14: 47,551,345 K184E probably benign Het
Aven A G 2: 112,627,768 D167G probably damaging Het
Celsr2 A G 3: 108,413,772 F575L probably benign Het
Cflar A T 1: 58,740,993 Q249L possibly damaging Het
Col7a1 G A 9: 108,972,813 probably null Het
Dmxl2 T C 9: 54,419,909 D944G possibly damaging Het
Dnah1 T C 14: 31,304,916 N717S probably benign Het
Dnaja3 T A 16: 4,699,871 N322K possibly damaging Het
Dnajb3 A G 1: 88,205,252 S143P possibly damaging Het
Dtx3 A G 10: 127,193,189 I60T possibly damaging Het
Dvl3 A G 16: 20,524,233 probably benign Het
Fam71b C A 11: 46,407,405 T512K possibly damaging Het
Fkbp7 A T 2: 76,663,317 D177E possibly damaging Het
Galnt7 T C 8: 57,652,966 I5V probably benign Het
Helz2 A T 2: 181,229,902 L2639Q probably damaging Het
Hnrnpr T C 4: 136,339,189 M394T probably benign Het
Ip6k2 G A 9: 108,805,648 R319Q probably benign Het
Kif14 T A 1: 136,516,363 C1364* probably null Het
Macf1 T C 4: 123,432,392 E5104G probably damaging Het
Mkl1 T A 15: 81,023,595 K29M probably damaging Het
Mrps30 T C 13: 118,386,840 D132G probably damaging Het
Mtbp CATGA CATGAATGA 15: 55,620,677 probably null Het
Nfkb1 A G 3: 135,603,770 V521A probably damaging Het
Olfr1535 T C 13: 21,555,461 D187G probably damaging Het
Olfr850 G T 9: 19,477,726 L175M probably damaging Het
P2rx6 T C 16: 17,570,767 L335P probably damaging Het
Pcdhga5 A G 18: 37,695,948 D483G possibly damaging Het
Pgpep1l T C 7: 68,237,079 T161A probably benign Het
Prss40 A G 1: 34,560,792 V38A probably benign Het
Ptk2 C A 15: 73,309,849 R104L possibly damaging Het
Ralgapa1 C T 12: 55,640,644 R2019Q probably damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Rtp4 A G 16: 23,613,083 N122D possibly damaging Het
Samd8 A G 14: 21,780,145 Y213C probably benign Het
Shcbp1 T A 8: 4,736,372 T577S probably benign Het
Tmprss7 A T 16: 45,656,573 D775E probably damaging Het
Tnr T C 1: 159,886,215 S738P possibly damaging Het
Tsc22d4 T C 5: 137,751,370 probably null Het
Ttc21a A T 9: 119,942,618 H161L probably benign Het
Ubqln3 T A 7: 104,141,803 E360V probably benign Het
Ugt1a10 C A 1: 88,056,210 D243E probably benign Het
Vmn2r19 G A 6: 123,329,912 V460I probably benign Het
Vmn2r58 T A 7: 41,837,587 Y628F possibly damaging Het
Wnk1 A T 6: 119,949,261 S1588T possibly damaging Het
Wscd2 A G 5: 113,560,984 D200G probably benign Het
Zfp831 G C 2: 174,705,654 W1543C possibly damaging Het
Other mutations in Tiprl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02970:Tiprl APN 1 165236746 missense probably damaging 1.00
3-1:Tiprl UTSW 1 165215828 missense possibly damaging 0.80
R0471:Tiprl UTSW 1 165222523 splice site probably null
R0647:Tiprl UTSW 1 165222523 splice site probably null
R1413:Tiprl UTSW 1 165215790 missense possibly damaging 0.71
R1536:Tiprl UTSW 1 165228406 missense probably benign 0.00
R4997:Tiprl UTSW 1 165220190 missense possibly damaging 0.53
R5238:Tiprl UTSW 1 165215768 missense probably benign
R7972:Tiprl UTSW 1 165236974 unclassified probably benign
R8114:Tiprl UTSW 1 165228422 missense probably benign 0.13
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-06-12