Incidental Mutation 'R2845:Plekha1'
ID 251519
Institutional Source Beutler Lab
Gene Symbol Plekha1
Ensembl Gene ENSMUSG00000040268
Gene Name pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
Synonyms C920009D07Rik, TAPP1
MMRRC Submission 040438-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R2845 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 130467486-130515042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 130510095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Cysteine at position 280 (W280C)
Ref Sequence ENSEMBL: ENSMUSP00000112777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048180] [ENSMUST00000075181] [ENSMUST00000120441] [ENSMUST00000124096] [ENSMUST00000151119]
AlphaFold Q8BUL6
Predicted Effect probably damaging
Transcript: ENSMUST00000048180
AA Change: W232C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035375
Gene: ENSMUSG00000040268
AA Change: W232C

DomainStartEndE-ValueType
PDB:1V5P|A 1 75 2e-33 PDB
Blast:PH 8 78 1e-36 BLAST
PH 144 243 1.71e-21 SMART
low complexity region 244 261 N/A INTRINSIC
low complexity region 268 287 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000075181
AA Change: W280C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074675
Gene: ENSMUSG00000040268
AA Change: W280C

DomainStartEndE-ValueType
PH 8 114 2.16e-9 SMART
PH 192 291 1.71e-21 SMART
low complexity region 330 341 N/A INTRINSIC
low complexity region 370 381 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120441
AA Change: W280C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112777
Gene: ENSMUSG00000040268
AA Change: W280C

DomainStartEndE-ValueType
PH 8 114 2.16e-9 SMART
PH 192 291 1.71e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000126355
AA Change: W41C
SMART Domains Protein: ENSMUSP00000114411
Gene: ENSMUSG00000040268
AA Change: W41C

DomainStartEndE-ValueType
Pfam:PH 2 51 6e-8 PFAM
low complexity region 102 113 N/A INTRINSIC
low complexity region 142 153 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135359
Predicted Effect probably benign
Transcript: ENSMUST00000136963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146111
Predicted Effect unknown
Transcript: ENSMUST00000151119
AA Change: W280C
SMART Domains Protein: ENSMUSP00000123600
Gene: ENSMUSG00000040268
AA Change: W280C

DomainStartEndE-ValueType
PDB:1V5P|A 1 67 3e-35 PDB
Blast:PH 8 67 7e-38 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198082
Meta Mutation Damage Score 0.9372 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mcie homozygous for a gene trapped allele exhibit postnatal lethality and increased body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap25 C T 6: 87,436,949 (GRCm39) E634K possibly damaging Het
Atg4a G A X: 139,893,589 (GRCm39) E106K probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cep152 A G 2: 125,429,894 (GRCm39) I676T probably damaging Het
Cherp C A 8: 73,220,247 (GRCm39) A449S probably damaging Het
Col19a1 C T 1: 24,598,762 (GRCm39) G77E unknown Het
Cplane1 G A 15: 8,245,864 (GRCm39) R1412H probably damaging Het
Csnk1g2 A G 10: 80,474,438 (GRCm39) S220G probably damaging Het
Efcab7 T A 4: 99,766,835 (GRCm39) V20D probably damaging Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Frem3 T C 8: 81,339,849 (GRCm39) F714S probably damaging Het
Gpx6 A T 13: 21,503,045 (GRCm39) probably null Het
Hsd3b1 T C 3: 98,760,094 (GRCm39) E299G probably damaging Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Mrgpra2a T A 7: 47,076,878 (GRCm39) M127L probably benign Het
Or10al3 T C 17: 38,011,714 (GRCm39) I51T probably damaging Het
Pign C A 1: 105,585,521 (GRCm39) L9F possibly damaging Het
Plekhh3 T C 11: 101,061,056 (GRCm39) probably benign Het
Pramel22 G A 4: 143,380,868 (GRCm39) S385F probably damaging Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Ptpru T A 4: 131,546,972 (GRCm39) I168F probably benign Het
Sbf1 A G 15: 89,187,421 (GRCm39) probably null Het
Skint10 T C 4: 112,573,023 (GRCm39) S258G probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
Tas2r138 T C 6: 40,589,701 (GRCm39) S182G probably benign Het
Tgfbr3l A G 8: 4,299,280 (GRCm39) D49G probably damaging Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zfp24 G T 18: 24,150,885 (GRCm39) T87K probably damaging Het
Zfp407 G T 18: 84,576,522 (GRCm39) C1530* probably null Het
Other mutations in Plekha1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Plekha1 APN 7 130,479,569 (GRCm39) missense probably damaging 1.00
IGL00973:Plekha1 APN 7 130,512,743 (GRCm39) missense probably damaging 0.96
IGL01010:Plekha1 APN 7 130,503,984 (GRCm39) splice site probably benign
IGL01726:Plekha1 APN 7 130,499,059 (GRCm39) missense probably damaging 1.00
R0137:Plekha1 UTSW 7 130,499,176 (GRCm39) missense probably damaging 0.98
R0681:Plekha1 UTSW 7 130,502,353 (GRCm39) missense possibly damaging 0.50
R1304:Plekha1 UTSW 7 130,503,949 (GRCm39) missense probably benign
R1786:Plekha1 UTSW 7 130,493,983 (GRCm39) missense probably benign 0.02
R2036:Plekha1 UTSW 7 130,503,922 (GRCm39) missense probably damaging 1.00
R2844:Plekha1 UTSW 7 130,510,095 (GRCm39) missense probably damaging 1.00
R2846:Plekha1 UTSW 7 130,510,095 (GRCm39) missense probably damaging 1.00
R5119:Plekha1 UTSW 7 130,507,094 (GRCm39) intron probably benign
R5167:Plekha1 UTSW 7 130,487,179 (GRCm39) critical splice donor site probably null
R5470:Plekha1 UTSW 7 130,510,106 (GRCm39) missense probably damaging 1.00
R5536:Plekha1 UTSW 7 130,511,331 (GRCm39) missense probably damaging 0.96
R5975:Plekha1 UTSW 7 130,493,983 (GRCm39) missense probably benign 0.02
R6087:Plekha1 UTSW 7 130,502,301 (GRCm39) missense probably benign 0.06
R6346:Plekha1 UTSW 7 130,479,512 (GRCm39) missense probably benign 0.17
R7581:Plekha1 UTSW 7 130,512,595 (GRCm39) missense probably benign
R8152:Plekha1 UTSW 7 130,510,102 (GRCm39) missense probably damaging 1.00
R8937:Plekha1 UTSW 7 130,502,241 (GRCm39) splice site probably benign
R8998:Plekha1 UTSW 7 130,510,199 (GRCm39) missense unknown
R8999:Plekha1 UTSW 7 130,510,199 (GRCm39) missense unknown
R9299:Plekha1 UTSW 7 130,511,348 (GRCm39) missense possibly damaging 0.67
R9337:Plekha1 UTSW 7 130,511,348 (GRCm39) missense possibly damaging 0.67
R9613:Plekha1 UTSW 7 130,479,488 (GRCm39) missense probably damaging 1.00
R9653:Plekha1 UTSW 7 130,479,494 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- GGGACAGCTGGACCAATGAC -3'
(R):5'- GAAGCTCTCAGTTAGGGTGC -3'

Sequencing Primer
(F):5'- TTTAATCTCAGCACTCAGGAGGCAG -3'
(R):5'- GCAAGTCCAATTGGTATGAAAGTC -3'
Posted On 2014-12-04