Incidental Mutation 'R7242:Plekha2'
ID 563293
Institutional Source Beutler Lab
Gene Symbol Plekha2
Ensembl Gene ENSMUSG00000031557
Gene Name pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2
Synonyms TAPP2, 6430512N22Rik
MMRRC Submission 045349-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7242 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 25529160-25592392 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 25578411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 30 (F30V)
Ref Sequence ENSEMBL: ENSMUSP00000066546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064883] [ENSMUST00000098866] [ENSMUST00000125466] [ENSMUST00000128715]
AlphaFold Q9ERS5
PDB Structure Solution Structure of the N-terminal Pleckstrin Homology Domain Of TAPP2 from Mouse [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000064883
AA Change: F30V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000066546
Gene: ENSMUSG00000031557
AA Change: F30V

DomainStartEndE-ValueType
PH 8 115 3.11e-10 SMART
PH 199 300 1.91e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000098866
AA Change: F30V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096464
Gene: ENSMUSG00000031557
AA Change: F30V

DomainStartEndE-ValueType
PH 8 115 3.11e-10 SMART
PH 199 300 1.91e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125466
AA Change: F30V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116764
Gene: ENSMUSG00000031557
AA Change: F30V

DomainStartEndE-ValueType
PDB:1V5P|A 1 95 4e-68 PDB
Blast:PH 8 95 9e-61 BLAST
SCOP:d1eaza_ 11 95 1e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000128715
AA Change: F30V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122564
Gene: ENSMUSG00000031557
AA Change: F30V

DomainStartEndE-ValueType
PH 8 115 3.11e-10 SMART
PH 199 300 1.91e-19 SMART
Meta Mutation Damage Score 0.6000 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-in allele are viable. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,121,677 (GRCm39) I74N probably damaging Het
Abca6 A T 11: 110,132,479 (GRCm39) V272D possibly damaging Het
Acot11 A T 4: 106,619,690 (GRCm39) S163R probably benign Het
Adcy5 T C 16: 34,977,205 (GRCm39) L246P probably damaging Het
Adgra1 A T 7: 139,427,573 (GRCm39) probably null Het
Adgra2 A G 8: 27,612,055 (GRCm39) T1335A probably damaging Het
Aoc1l2 A T 6: 48,908,062 (GRCm39) Y354F probably damaging Het
Armt1 T C 10: 4,403,475 (GRCm39) S187P probably damaging Het
Azin1 T C 15: 38,501,749 (GRCm39) M1V probably null Het
B430305J03Rik C T 3: 61,271,256 (GRCm39) C163Y unknown Het
Cables1 T C 18: 11,973,064 (GRCm39) S68P possibly damaging Het
Cacna1d A G 14: 29,900,663 (GRCm39) F341L probably benign Het
Ccdc90b T A 7: 92,221,776 (GRCm39) H118Q probably damaging Het
Ccn5 T C 2: 163,670,772 (GRCm39) F93S probably benign Het
Celf1 T A 2: 90,833,602 (GRCm39) C119* probably null Het
Cfap57 C T 4: 118,450,293 (GRCm39) V610M possibly damaging Het
Chrm4 T A 2: 91,757,595 (GRCm39) M1K probably null Het
Chrnd C T 1: 87,125,201 (GRCm39) T418I probably damaging Het
Coch G T 12: 51,640,344 (GRCm39) probably benign Het
Cop1 A G 1: 159,112,118 (GRCm39) T345A probably benign Het
Cops6 A G 5: 138,161,842 (GRCm39) T96A probably benign Het
Corin T C 5: 72,462,398 (GRCm39) I945V probably benign Het
Cyp2c67 G T 19: 39,605,783 (GRCm39) T371N probably benign Het
Dap T A 15: 31,273,454 (GRCm39) *103R probably null Het
Defb35 T A 8: 22,430,773 (GRCm39) V49E unknown Het
Dmtf1 T A 5: 9,199,016 (GRCm39) D39V possibly damaging Het
Dmtn T C 14: 70,855,460 (GRCm39) T10A probably damaging Het
Dnajc1 C T 2: 18,298,783 (GRCm39) E264K probably benign Het
Dtx3l A T 16: 35,753,771 (GRCm39) N278K possibly damaging Het
Fam161a T A 11: 22,970,037 (GRCm39) S72T possibly damaging Het
Fnbp4 T A 2: 90,576,140 (GRCm39) S114T unknown Het
Focad T G 4: 88,228,143 (GRCm39) I784S unknown Het
Fzd8 A T 18: 9,214,171 (GRCm39) T418S probably damaging Het
Gclc A G 9: 77,692,653 (GRCm39) Y264C probably benign Het
Ggn G A 7: 28,872,459 (GRCm39) C649Y possibly damaging Het
Gys1 A G 7: 45,089,092 (GRCm39) probably null Het
Hsd3b1 T C 3: 98,760,526 (GRCm39) Y155C probably damaging Het
Htatip2 A G 7: 49,422,354 (GRCm39) K191E probably benign Het
Ik A T 18: 36,881,275 (GRCm39) S79C probably null Het
Kin G A 2: 10,096,604 (GRCm39) R151Q probably benign Het
Kpna2rt G A 17: 90,217,563 (GRCm39) T61I probably benign Het
Mast4 A G 13: 102,874,986 (GRCm39) S1461P probably damaging Het
Melk T A 4: 44,360,885 (GRCm39) V555E probably damaging Het
Met G A 6: 17,491,316 (GRCm39) C26Y probably damaging Het
Mfsd6 A T 1: 52,748,633 (GRCm39) F77L probably damaging Het
Mib1 T A 18: 10,741,011 (GRCm39) D86E probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Or12e8 G A 2: 87,188,426 (GRCm39) V213I probably benign Het
Or56b1b T G 7: 108,164,919 (GRCm39) S28R probably benign Het
Or7a36 A T 10: 78,820,331 (GRCm39) K236* probably null Het
Or8g21 A G 9: 38,906,437 (GRCm39) I98T probably benign Het
Patj A T 4: 98,480,170 (GRCm39) I1296L probably benign Het
Pcdh1 C T 18: 38,336,270 (GRCm39) V122M probably benign Het
Pcdhac2 A T 18: 37,277,946 (GRCm39) I309F possibly damaging Het
Phf8-ps A G 17: 33,286,101 (GRCm39) Y234H probably damaging Het
Phtf1 A G 3: 103,906,012 (GRCm39) S565G probably damaging Het
Ptbp1 A G 10: 79,692,222 (GRCm39) M20V unknown Het
Pth2r A G 1: 65,427,779 (GRCm39) D484G probably benign Het
Rapgef2 G A 3: 78,995,210 (GRCm39) Q665* probably null Het
Scamp1 G A 13: 94,369,648 (GRCm39) T59I probably benign Het
Sema4a T A 3: 88,357,416 (GRCm39) D230V probably damaging Het
Snw1 C T 12: 87,515,415 (GRCm39) G45R possibly damaging Het
Sox30 T A 11: 45,875,347 (GRCm39) probably null Het
Sspo T A 6: 48,450,886 (GRCm39) I2665K probably benign Het
Stx5a T A 19: 8,732,641 (GRCm39) W437R unknown Het
Tln1 A G 4: 43,542,602 (GRCm39) V1402A probably benign Het
Tpm1 A G 9: 66,935,383 (GRCm39) L244P probably benign Het
Try5 T A 6: 41,290,388 (GRCm39) E32V probably benign Het
Ttn T C 2: 76,552,073 (GRCm39) N31188S probably benign Het
Tulp1 T C 17: 28,582,379 (GRCm39) probably null Het
Usp13 T G 3: 32,919,892 (GRCm39) probably null Het
Vax2 A G 6: 83,688,298 (GRCm39) E7G possibly damaging Het
Vmn2r45 A T 7: 8,488,612 (GRCm39) Y139* probably null Het
Zfp423 T C 8: 88,631,155 (GRCm39) D21G probably benign Het
Other mutations in Plekha2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Plekha2 APN 8 25,547,343 (GRCm39) missense probably damaging 0.98
IGL02123:Plekha2 APN 8 25,532,745 (GRCm39) missense probably damaging 1.00
abstruse UTSW 8 25,578,407 (GRCm39) missense probably damaging 1.00
Byzantine UTSW 8 25,578,411 (GRCm39) missense probably damaging 1.00
Complexity UTSW 8 25,547,314 (GRCm39) missense probably damaging 1.00
Elaborate UTSW 8 25,533,063 (GRCm39) splice site probably null
R1178:Plekha2 UTSW 8 25,549,218 (GRCm39) missense probably benign 0.26
R1181:Plekha2 UTSW 8 25,549,218 (GRCm39) missense probably benign 0.26
R1668:Plekha2 UTSW 8 25,562,070 (GRCm39) missense probably damaging 0.98
R1722:Plekha2 UTSW 8 25,532,976 (GRCm39) missense probably benign 0.02
R2153:Plekha2 UTSW 8 25,578,413 (GRCm39) missense probably damaging 1.00
R4223:Plekha2 UTSW 8 25,533,036 (GRCm39) missense probably damaging 1.00
R4585:Plekha2 UTSW 8 25,533,685 (GRCm39) nonsense probably null
R4604:Plekha2 UTSW 8 25,549,851 (GRCm39) missense probably null 1.00
R4791:Plekha2 UTSW 8 25,532,778 (GRCm39) missense probably damaging 1.00
R4817:Plekha2 UTSW 8 25,549,960 (GRCm39) missense possibly damaging 0.94
R5344:Plekha2 UTSW 8 25,533,063 (GRCm39) splice site probably null
R5670:Plekha2 UTSW 8 25,549,254 (GRCm39) missense probably benign 0.03
R5892:Plekha2 UTSW 8 25,542,381 (GRCm39) missense probably benign
R6440:Plekha2 UTSW 8 25,578,413 (GRCm39) missense probably damaging 1.00
R6970:Plekha2 UTSW 8 25,549,280 (GRCm39) missense probably benign 0.00
R7157:Plekha2 UTSW 8 25,553,957 (GRCm39) missense probably damaging 1.00
R7674:Plekha2 UTSW 8 25,547,314 (GRCm39) missense probably damaging 1.00
R7810:Plekha2 UTSW 8 25,578,356 (GRCm39) critical splice donor site probably null
R8048:Plekha2 UTSW 8 25,554,005 (GRCm39) splice site probably benign
R8359:Plekha2 UTSW 8 25,578,407 (GRCm39) missense probably damaging 1.00
X0027:Plekha2 UTSW 8 25,547,319 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCGGAAGGTCTCTTACTTCTTACAG -3'
(R):5'- AGGAGCCTAGCATGTCACAG -3'

Sequencing Primer
(F):5'- ACTTCTTACAGAGGTCCCTTGAGAG -3'
(R):5'- CCTAGCATGTCACAGAGATGAGTC -3'
Posted On 2019-06-26