Incidental Mutation 'R4415:Pip4p2'
ID 326784
Institutional Source Beutler Lab
Gene Symbol Pip4p2
Ensembl Gene ENSMUSG00000028221
Gene Name phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2
Synonyms 2610319K07Rik, Tmem55a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R4415 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 14864076-14915176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14912463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 191 (R191C)
Ref Sequence ENSEMBL: ENSMUSP00000029875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029875]
AlphaFold Q9CZX7
Predicted Effect probably damaging
Transcript: ENSMUST00000029875
AA Change: R191C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029875
Gene: ENSMUSG00000028221
AA Change: R191C

DomainStartEndE-ValueType
Pfam:Tmemb_55A 6 250 1.1e-104 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 A T 11: 105,895,947 (GRCm39) D631V probably benign Het
Adam17 T C 12: 21,395,702 (GRCm39) I274V possibly damaging Het
Aebp1 A G 11: 5,815,451 (GRCm39) D303G probably damaging Het
B020004C17Rik T C 14: 57,254,874 (GRCm39) *233R probably null Het
Bcl9l C T 9: 44,413,176 (GRCm39) P127S possibly damaging Het
Bdp1 T C 13: 100,167,369 (GRCm39) D2215G probably damaging Het
Caly T C 7: 139,652,593 (GRCm39) T52A probably damaging Het
Ccdc125 T C 13: 100,832,817 (GRCm39) S465P possibly damaging Het
Cdc23 ACC AC 18: 34,770,371 (GRCm39) probably null Het
Colq T C 14: 31,257,645 (GRCm39) K231E probably damaging Het
Fam32a T A 8: 72,975,785 (GRCm39) I77N probably damaging Het
Impdh1 C T 6: 29,209,221 (GRCm39) V49M probably damaging Het
Kcnh7 A G 2: 62,536,417 (GRCm39) I1055T probably damaging Het
Lad1 A G 1: 135,756,484 (GRCm39) D364G probably benign Het
Lama2 G T 10: 26,865,340 (GRCm39) Y947* probably null Het
Myo5b T A 18: 74,713,479 (GRCm39) I108N probably damaging Het
Nvl T C 1: 180,932,679 (GRCm39) T713A probably benign Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Or6c70 T C 10: 129,709,826 (GRCm39) T267A probably benign Het
Pappa A G 4: 65,223,532 (GRCm39) T1236A probably benign Het
Rcl1 G A 19: 29,095,762 (GRCm39) V116I probably benign Het
Rdh14 G A 12: 10,441,231 (GRCm39) probably null Het
Rfx2 T A 17: 57,094,733 (GRCm39) T204S possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Ripor1 T C 8: 106,344,608 (GRCm39) S581P probably benign Het
Rnf213 T A 11: 119,374,790 (GRCm39) V5084E probably damaging Het
Scn9a A T 2: 66,357,037 (GRCm39) V1077E probably damaging Het
Slc15a5 A G 6: 138,056,754 (GRCm39) V54A probably benign Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Snx19 T A 9: 30,348,779 (GRCm39) L804Q probably damaging Het
Spata31e5 T A 1: 28,816,214 (GRCm39) Q606L probably benign Het
Specc1l C A 10: 75,082,162 (GRCm39) N519K possibly damaging Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Stambp A T 6: 83,534,464 (GRCm39) N274K probably damaging Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Tacc3 T G 5: 33,824,028 (GRCm39) probably null Het
Tubb1 G A 2: 174,299,466 (GRCm39) E383K probably benign Het
Ube3b A T 5: 114,550,505 (GRCm39) D844V probably damaging Het
Other mutations in Pip4p2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01781:Pip4p2 APN 4 14,893,566 (GRCm39) missense probably damaging 0.97
IGL02100:Pip4p2 APN 4 14,893,536 (GRCm39) missense probably benign 0.03
R1441:Pip4p2 UTSW 4 14,892,477 (GRCm39) missense possibly damaging 0.75
R1693:Pip4p2 UTSW 4 14,886,631 (GRCm39) missense probably benign 0.01
R3843:Pip4p2 UTSW 4 14,886,553 (GRCm39) nonsense probably null
R3861:Pip4p2 UTSW 4 14,902,506 (GRCm39) missense probably damaging 0.98
R4372:Pip4p2 UTSW 4 14,912,463 (GRCm39) missense probably damaging 1.00
R4927:Pip4p2 UTSW 4 14,912,458 (GRCm39) missense probably damaging 0.99
R7226:Pip4p2 UTSW 4 14,892,464 (GRCm39) missense probably damaging 0.99
R7466:Pip4p2 UTSW 4 14,912,477 (GRCm39) nonsense probably null
R8851:Pip4p2 UTSW 4 14,912,491 (GRCm39) missense possibly damaging 0.88
R9509:Pip4p2 UTSW 4 14,892,485 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATTGTCAGTGAGCAAGGCAC -3'
(R):5'- GGTGTACCAAGTCTCACCAC -3'

Sequencing Primer
(F):5'- GCTTTTGCCATTTGTTGAAACATGTC -3'
(R):5'- GTCTCTTGGCATAGAAGAGTACACC -3'
Posted On 2015-07-07