Incidental Mutation 'R8359:Plekha2'
ID645919
Institutional Source Beutler Lab
Gene Symbol Plekha2
Ensembl Gene ENSMUSG00000031557
Gene Namepleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2
Synonyms6430512N22Rik, TAPP2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8359 (G1)
Quality Score225.009
Status Not validated
Chromosome8
Chromosomal Location25039144-25102376 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25088391 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 31 (I31T)
Ref Sequence ENSEMBL: ENSMUSP00000066546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064883] [ENSMUST00000098866] [ENSMUST00000125466] [ENSMUST00000128715]
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: I31T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000066546
Gene: ENSMUSG00000031557
AA Change: I31T

DomainStartEndE-ValueType
PH 8 115 3.11e-10 SMART
PH 199 300 1.91e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000098866
AA Change: I31T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096464
Gene: ENSMUSG00000031557
AA Change: I31T

DomainStartEndE-ValueType
PH 8 115 3.11e-10 SMART
PH 199 300 1.91e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125466
AA Change: I31T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116764
Gene: ENSMUSG00000031557
AA Change: I31T

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: I31T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122564
Gene: ENSMUSG00000031557
AA Change: I31T

DomainStartEndE-ValueType
PH 8 115 3.11e-10 SMART
PH 199 300 1.91e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,806,486 V315D probably damaging Het
Adgrf1 A T 17: 43,310,395 I508F probably damaging Het
Atpaf2 T C 11: 60,407,303 D147G probably damaging Het
Brwd1 T C 16: 96,016,209 T1368A probably damaging Het
Cacna1s A T 1: 136,116,061 E1626V probably benign Het
Carm1 G A 9: 21,569,469 V80I possibly damaging Het
Casc4 A T 2: 121,867,151 probably benign Het
Cenpw T A 10: 30,198,488 D71V probably damaging Het
Ckmt1 A T 2: 121,363,050 T364S probably benign Het
Col6a4 T C 9: 106,068,384 S844G probably benign Het
Crybg1 T C 10: 43,992,542 E1380G probably benign Het
Cyp21a1 A G 17: 34,802,131 probably null Het
D430042O09Rik T C 7: 125,868,851 probably null Het
Dhodh A C 8: 109,606,406 D12E probably benign Het
Dnali1 T A 4: 125,063,667 T95S probably damaging Het
Dynlrb1 A G 2: 155,249,950 N93D probably benign Het
Edem1 C T 6: 108,846,813 A390V probably benign Het
Enthd1 T C 15: 80,474,155 D388G probably benign Het
Fam170a A G 18: 50,281,610 T108A probably damaging Het
Fryl A G 5: 73,075,933 S1531P probably benign Het
Hspbap1 C A 16: 35,824,996 N350K probably benign Het
Htr3b A C 9: 48,947,296 S94R probably damaging Het
Ide A T 19: 37,330,487 V42E Het
Igf2r A G 17: 12,683,861 V2434A probably benign Het
Kif16b G A 2: 142,711,857 A1007V probably benign Het
Mccc1 C T 3: 35,964,344 V614I probably benign Het
Mos A G 4: 3,871,097 Y240H probably damaging Het
Myh11 C T 16: 14,208,231 probably null Het
Nexn T A 3: 152,248,361 D166V probably damaging Het
Olfr328 G T 11: 58,552,203 T12N probably benign Het
Olfr510 T A 7: 108,668,311 N298K probably benign Het
Olfr55 G A 17: 33,176,921 C173Y probably damaging Het
Pkp4 A G 2: 59,350,551 Y1061C probably damaging Het
Pla2g6 T C 15: 79,287,170 D740G probably damaging Het
Pla2r1 T A 2: 60,443,283 I920L probably benign Het
Ppp1r16b G T 2: 158,761,375 V407L probably benign Het
Prss50 A G 9: 110,862,302 I225V probably damaging Het
Rmdn2 A T 17: 79,628,151 E231V Het
Sema3c T C 5: 17,653,728 S42P possibly damaging Het
Slc22a20 T C 19: 5,971,526 I483V probably benign Het
Slc30a2 T C 4: 134,349,379 V275A probably damaging Het
Slc6a3 T A 13: 73,544,883 F207L probably benign Het
Slc9a1 A T 4: 133,420,616 Q648H probably damaging Het
Slpi A T 2: 164,356,055 M1K probably null Het
Smc5 A C 19: 23,234,079 S564A possibly damaging Het
Smchd1 A T 17: 71,431,243 F542L probably damaging Het
Sycp1 T A 3: 102,820,593 K901N probably damaging Het
Synpo2l T A 14: 20,666,140 T126S probably benign Het
Upp2 A G 2: 58,777,943 N216S probably benign Het
Wnk1 T C 6: 119,992,447 D349G probably damaging Het
Zfp180 C T 7: 24,104,912 A252V probably benign Het
Zfr2 C T 10: 81,242,819 T295I possibly damaging Het
Zkscan16 C T 4: 58,957,230 T504I possibly damaging Het
Other mutations in Plekha2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Plekha2 APN 8 25057327 missense probably damaging 0.98
IGL02123:Plekha2 APN 8 25042729 missense probably damaging 1.00
Byzantine UTSW 8 25088395 missense probably damaging 1.00
Elaborate UTSW 8 25043047 splice site probably null
R1178:Plekha2 UTSW 8 25059202 missense probably benign 0.26
R1181:Plekha2 UTSW 8 25059202 missense probably benign 0.26
R1668:Plekha2 UTSW 8 25072054 missense probably damaging 0.98
R1722:Plekha2 UTSW 8 25042960 missense probably benign 0.02
R2153:Plekha2 UTSW 8 25088397 missense probably damaging 1.00
R4223:Plekha2 UTSW 8 25043020 missense probably damaging 1.00
R4585:Plekha2 UTSW 8 25043669 nonsense probably null
R4604:Plekha2 UTSW 8 25059835 missense probably null 1.00
R4791:Plekha2 UTSW 8 25042762 missense probably damaging 1.00
R4817:Plekha2 UTSW 8 25059944 missense possibly damaging 0.94
R5344:Plekha2 UTSW 8 25043047 splice site probably null
R5670:Plekha2 UTSW 8 25059238 missense probably benign 0.03
R5892:Plekha2 UTSW 8 25052365 missense probably benign
R6440:Plekha2 UTSW 8 25088397 missense probably damaging 1.00
R6970:Plekha2 UTSW 8 25059264 missense probably benign 0.00
R7157:Plekha2 UTSW 8 25063941 missense probably damaging 1.00
R7242:Plekha2 UTSW 8 25088395 missense probably damaging 1.00
R7674:Plekha2 UTSW 8 25057298 missense probably damaging 1.00
R7810:Plekha2 UTSW 8 25088340 critical splice donor site probably null
R8048:Plekha2 UTSW 8 25063989 splice site probably benign
X0027:Plekha2 UTSW 8 25057303 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTGTCGGAAGGTCTCTTACTTC -3'
(R):5'- AGCCTAGCATGTCACAGAGATG -3'

Sequencing Primer
(F):5'- ACTTCTTACAGAGGTCCCTTGAGAG -3'
(R):5'- TGTCACAGAGATGAGTCAAACC -3'
Posted On2020-09-02