Incidental Mutation 'R1304:Plekha1'
ID 157752
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 039370-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R1304 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 130467486-130515042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130503949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 219 (T219A)
Ref Sequence ENSEMBL: ENSMUSP00000112777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048180] [ENSMUST00000075181] [ENSMUST00000120441] [ENSMUST00000124096] [ENSMUST00000151119]
AlphaFold Q8BUL6
Predicted Effect probably benign
Transcript: ENSMUST00000048180
AA Change: T171A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035375
Gene: ENSMUSG00000040268
AA Change: T171A

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 benign
Transcript: ENSMUST00000075181
AA Change: T219A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074675
Gene: ENSMUSG00000040268
AA Change: T219A

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 benign
Transcript: ENSMUST00000120441
AA Change: T219A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112777
Gene: ENSMUSG00000040268
AA Change: T219A

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 probably benign
Transcript: ENSMUST00000126355
SMART Domains Protein: ENSMUSP00000114411
Gene: ENSMUSG00000040268

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 unknown
Transcript: ENSMUST00000136963
AA Change: T57A
Predicted Effect unknown
Transcript: ENSMUST00000151119
AA Change: T219A
SMART Domains Protein: ENSMUSP00000123600
Gene: ENSMUSG00000040268
AA Change: T219A

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: ENSMUST00000146111
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 90.4%
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankmy2 T G 12: 36,236,804 (GRCm39) I204S probably damaging Het
Cdh12 T G 15: 21,584,023 (GRCm39) L621R probably benign Het
Dnah9 A G 11: 65,818,414 (GRCm39) I3308T probably damaging Het
Dync2h1 A G 9: 7,102,318 (GRCm39) L454P probably damaging Het
Ece2 A G 16: 20,430,532 (GRCm39) E53G probably damaging Het
Kcp T A 6: 29,501,291 (GRCm39) probably benign Het
Lyst C A 13: 13,926,569 (GRCm39) Y3458* probably null Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or12e13 C T 2: 87,664,049 (GRCm39) T222I possibly damaging Het
Or9g4 T C 2: 85,504,682 (GRCm39) D271G probably damaging Het
Pde6a A G 18: 61,391,364 (GRCm39) T570A probably damaging Het
Prkdc T A 16: 15,577,587 (GRCm39) F2380L probably damaging Het
Slc35b4 T A 6: 34,140,300 (GRCm39) K151* probably null Het
Tmem241 A G 18: 12,203,135 (GRCm39) probably null Het
Zfp607a C A 7: 27,565,000 (GRCm39) R56S probably benign 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
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
R2845: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'- GCAGGGAAAGGGGTCATTAACCATC -3'
(R):5'- AGTATGCAGCATATGAAAGCCCCAC -3'

Sequencing Primer
(F):5'- AACCATCTCCCTTCGGAATG -3'
(R):5'- ATGTCCCTCTGACAGAGAGTTAC -3'
Posted On 2014-02-18