Incidental Mutation 'R0363:Plekha5'
ID 65705
Institutional Source Beutler Lab
Gene Symbol Plekha5
Ensembl Gene ENSMUSG00000030231
Gene Name pleckstrin homology domain containing, family A member 5
Synonyms 2810431N21Rik, PEPP2
MMRRC Submission 038569-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R0363 (G1)
Quality Score 176
Status Validated
Chromosome 6
Chromosomal Location 140369780-140542836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 140537473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 646 (R646K)
Ref Sequence ENSEMBL: ENSMUSP00000144973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087622] [ENSMUST00000203012] [ENSMUST00000203483] [ENSMUST00000204080] [ENSMUST00000204145] [ENSMUST00000205026] [ENSMUST00000213444]
AlphaFold E9Q6H8
Predicted Effect probably benign
Transcript: ENSMUST00000087622
AA Change: R1233K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: R1233K

DomainStartEndE-ValueType
WW 12 44 1.51e-3 SMART
WW 58 90 2.17e-4 SMART
PH 171 271 1.85e-17 SMART
Blast:PH 592 715 7e-39 BLAST
coiled coil region 747 781 N/A INTRINSIC
low complexity region 896 916 N/A INTRINSIC
low complexity region 924 938 N/A INTRINSIC
low complexity region 1206 1224 N/A INTRINSIC
low complexity region 1243 1258 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203012
AA Change: R754K

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: R754K

DomainStartEndE-ValueType
Blast:PH 210 250 2e-8 BLAST
coiled coil region 268 302 N/A INTRINSIC
low complexity region 417 437 N/A INTRINSIC
low complexity region 445 459 N/A INTRINSIC
low complexity region 727 745 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203483
AA Change: R288K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000145219
Gene: ENSMUSG00000030231
AA Change: R288K

DomainStartEndE-ValueType
low complexity region 261 279 N/A INTRINSIC
low complexity region 298 313 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204080
SMART Domains Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231

DomainStartEndE-ValueType
Blast:PH 220 260 1e-8 BLAST
coiled coil region 278 312 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204145
SMART Domains Protein: ENSMUSP00000145457
Gene: ENSMUSG00000030231

DomainStartEndE-ValueType
WW 12 44 9e-6 SMART
WW 58 90 1.3e-6 SMART
Blast:PH 114 151 6e-14 BLAST
PDB:2DKP|A 163 196 1e-5 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000205026
AA Change: R646K

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
AA Change: R646K

DomainStartEndE-ValueType
Blast:PH 165 205 1e-8 BLAST
coiled coil region 223 257 N/A INTRINSIC
low complexity region 619 637 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205255
Predicted Effect probably benign
Transcript: ENSMUST00000213444
AA Change: R560K

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.0602 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 86.5%
Validation Efficiency 98% (78/80)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik T A 4: 109,381,520 (GRCm39) Q86L probably null Het
Abhd2 A G 7: 79,000,561 (GRCm39) D262G possibly damaging Het
Abhd5 T C 9: 122,197,211 (GRCm39) F133L possibly damaging Het
Agap2 T A 10: 126,926,834 (GRCm39) V957E probably damaging Het
Ankrd12 T C 17: 66,292,676 (GRCm39) K919R probably damaging Het
Ap1m1 T C 8: 73,006,738 (GRCm39) S245P probably benign Het
Ap1m1 T C 8: 73,010,568 (GRCm39) probably benign Het
Apcdd1 A G 18: 63,070,168 (GRCm39) Y145C possibly damaging Het
Apob A T 12: 8,060,136 (GRCm39) N2840Y probably damaging Het
Arel1 A G 12: 84,981,027 (GRCm39) S327P probably damaging Het
Arhgap21 C A 2: 20,885,944 (GRCm39) R421L probably damaging Het
Ccdc85a A T 11: 28,533,400 (GRCm39) I48N probably damaging Het
Chd6 A G 2: 160,856,244 (GRCm39) S672P probably damaging Het
Ciz1 G C 2: 32,267,375 (GRCm39) probably null Het
Cmbl G A 15: 31,585,588 (GRCm39) probably null Het
Cmya5 A G 13: 93,231,377 (GRCm39) V1237A possibly damaging Het
Cntnap4 A T 8: 113,583,143 (GRCm39) K1074* probably null Het
Cntnap5b A G 1: 100,202,193 (GRCm39) M347V probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cuzd1 A T 7: 130,917,991 (GRCm39) M203K probably benign Het
Cyp3a16 T C 5: 145,392,689 (GRCm39) probably benign Het
Dlgap3 A G 4: 127,129,314 (GRCm39) E892G probably damaging Het
Dnah7b T C 1: 46,275,948 (GRCm39) S2612P probably damaging Het
Epas1 T G 17: 87,113,276 (GRCm39) probably benign Het
Etv5 G A 16: 22,230,458 (GRCm39) A192V probably benign Het
Fa2h T A 8: 112,075,921 (GRCm39) H234L probably damaging Het
Fcho1 T C 8: 72,170,134 (GRCm39) Y47C probably damaging Het
Flvcr1 T A 1: 190,744,451 (GRCm39) probably benign Het
Il1rl1 CTTGTTGTTGTTGTTGTTG CTTGTTGTTGTTGTTGTTGTTG 1: 40,481,734 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Inpp4b T C 8: 82,610,886 (GRCm39) probably benign Het
Isy1 G A 6: 87,796,167 (GRCm39) R257W probably damaging Het
Kmt2a A G 9: 44,721,010 (GRCm39) probably null Het
Krt4 G A 15: 101,833,081 (GRCm39) R9C possibly damaging Het
Map1a T C 2: 121,132,525 (GRCm39) S876P probably damaging Het
Mettl21e A G 1: 44,250,190 (GRCm39) probably null Het
Msh2 C T 17: 88,024,904 (GRCm39) T594M probably benign Het
Mtmr3 A G 11: 4,437,536 (GRCm39) S973P probably damaging Het
Muc5ac A T 7: 141,354,697 (GRCm39) M889L probably benign Het
Ntn1 A G 11: 68,276,369 (GRCm39) I193T probably benign Het
Nudt13 A T 14: 20,359,851 (GRCm39) I193F probably damaging Het
Or2n1 A G 17: 38,486,338 (GRCm39) D121G probably damaging Het
Or3a1 C T 11: 74,225,925 (GRCm39) G44D probably damaging Het
Or4b1b A T 2: 90,112,200 (GRCm39) S240T probably damaging Het
Or5p73 A T 7: 108,064,941 (GRCm39) T137S possibly damaging Het
Otulin A G 15: 27,606,381 (GRCm39) V344A probably damaging Het
P2rx7 C T 5: 122,795,093 (GRCm39) Q128* probably null Het
Pcdhb22 G A 18: 37,652,213 (GRCm39) R227H probably benign Het
Pltp C T 2: 164,682,056 (GRCm39) R394H probably benign Het
Ppip5k1 C G 2: 121,177,836 (GRCm39) A324P probably damaging Het
Pramel14 C T 4: 143,718,221 (GRCm39) M407I probably benign Het
Prdm13 A C 4: 21,679,737 (GRCm39) V251G unknown Het
Prkg1 T C 19: 31,641,596 (GRCm39) E29G probably damaging Het
Prrc2c A G 1: 162,525,380 (GRCm39) S409P unknown Het
Rp1 T A 1: 4,417,941 (GRCm39) D1057V probably damaging Het
Rttn G A 18: 89,029,079 (GRCm39) C599Y probably damaging Het
Shisa6 C T 11: 66,416,153 (GRCm39) R213Q probably benign Het
Slc3a1 T C 17: 85,340,273 (GRCm39) Y232H probably damaging Het
Slx4 G A 16: 3,797,953 (GRCm39) A1477V probably damaging Het
Ssrp1 T G 2: 84,871,018 (GRCm39) I218S probably damaging Het
St6galnac1 A C 11: 116,659,756 (GRCm39) S186A probably benign Het
Stab1 A G 14: 30,880,965 (GRCm39) probably benign Het
Sycp2 T C 2: 177,988,204 (GRCm39) probably benign Het
Syne2 T A 12: 76,118,981 (GRCm39) I5867N probably damaging Het
Taar7f T A 10: 23,925,839 (GRCm39) D144E probably damaging Het
Tlcd5 A T 9: 43,023,048 (GRCm39) M84K probably damaging Het
Tmem87b T A 2: 128,673,153 (GRCm39) S196T probably damaging Het
Tnfrsf21 A G 17: 43,348,768 (GRCm39) T127A probably benign Het
Trp73 A G 4: 154,148,406 (GRCm39) I336T probably benign Het
Ttl A G 2: 128,917,981 (GRCm39) I148V probably damaging Het
Ttll7 T C 3: 146,649,970 (GRCm39) Y667H probably benign Het
Ubr4 A G 4: 139,119,171 (GRCm39) T152A probably damaging Het
Vmn1r58 A T 7: 5,413,636 (GRCm39) V198E probably damaging Het
Vps52 T A 17: 34,181,091 (GRCm39) F376L probably benign Het
Zfp1007 T C 5: 109,824,754 (GRCm39) E232G probably benign Het
Other mutations in Plekha5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Plekha5 APN 6 140,515,822 (GRCm39) splice site probably benign
IGL00908:Plekha5 APN 6 140,496,656 (GRCm39) missense probably damaging 1.00
IGL01346:Plekha5 APN 6 140,480,292 (GRCm39) splice site probably benign
IGL01380:Plekha5 APN 6 140,516,042 (GRCm39) splice site probably benign
IGL01406:Plekha5 APN 6 140,518,676 (GRCm39) missense probably damaging 0.99
IGL01408:Plekha5 APN 6 140,516,042 (GRCm39) splice site probably benign
IGL01688:Plekha5 APN 6 140,515,115 (GRCm39) missense probably damaging 0.98
IGL01719:Plekha5 APN 6 140,515,855 (GRCm39) missense probably damaging 1.00
IGL01926:Plekha5 APN 6 140,471,642 (GRCm39) missense probably benign 0.12
IGL01936:Plekha5 APN 6 140,470,621 (GRCm39) missense probably damaging 1.00
IGL02326:Plekha5 APN 6 140,529,576 (GRCm39) nonsense probably null
IGL02544:Plekha5 APN 6 140,535,454 (GRCm39) missense possibly damaging 0.78
IGL02573:Plekha5 APN 6 140,527,742 (GRCm39) missense probably damaging 1.00
IGL02704:Plekha5 APN 6 140,489,592 (GRCm39) missense probably damaging 1.00
IGL02959:Plekha5 APN 6 140,489,904 (GRCm39) missense probably damaging 1.00
Doubletime UTSW 6 140,471,655 (GRCm39) nonsense probably null
R0067:Plekha5 UTSW 6 140,470,629 (GRCm39) missense probably damaging 1.00
R0067:Plekha5 UTSW 6 140,470,629 (GRCm39) missense probably damaging 1.00
R0095:Plekha5 UTSW 6 140,474,323 (GRCm39) missense probably damaging 1.00
R0095:Plekha5 UTSW 6 140,474,323 (GRCm39) missense probably damaging 1.00
R0105:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0107:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0359:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0360:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0362:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0364:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0365:Plekha5 UTSW 6 140,537,473 (GRCm39) missense possibly damaging 0.80
R0833:Plekha5 UTSW 6 140,535,360 (GRCm39) splice site probably benign
R0835:Plekha5 UTSW 6 140,514,576 (GRCm39) nonsense probably null
R0836:Plekha5 UTSW 6 140,535,360 (GRCm39) splice site probably benign
R0944:Plekha5 UTSW 6 140,515,922 (GRCm39) splice site probably benign
R2015:Plekha5 UTSW 6 140,480,290 (GRCm39) critical splice donor site probably null
R2043:Plekha5 UTSW 6 140,498,530 (GRCm39) splice site probably benign
R2086:Plekha5 UTSW 6 140,516,044 (GRCm39) splice site probably null
R2102:Plekha5 UTSW 6 140,518,603 (GRCm39) missense probably damaging 1.00
R2109:Plekha5 UTSW 6 140,369,942 (GRCm39) missense possibly damaging 0.56
R2135:Plekha5 UTSW 6 140,526,225 (GRCm39) missense possibly damaging 0.66
R2150:Plekha5 UTSW 6 140,516,129 (GRCm39) missense probably damaging 1.00
R2211:Plekha5 UTSW 6 140,471,587 (GRCm39) missense possibly damaging 0.56
R2414:Plekha5 UTSW 6 140,496,582 (GRCm39) missense probably damaging 1.00
R2915:Plekha5 UTSW 6 140,534,925 (GRCm39) missense probably damaging 0.96
R3120:Plekha5 UTSW 6 140,537,367 (GRCm39) missense probably benign 0.00
R3924:Plekha5 UTSW 6 140,516,105 (GRCm39) missense possibly damaging 0.78
R4049:Plekha5 UTSW 6 140,529,597 (GRCm39) missense probably damaging 1.00
R4056:Plekha5 UTSW 6 140,534,958 (GRCm39) missense possibly damaging 0.46
R4077:Plekha5 UTSW 6 140,501,647 (GRCm39) splice site probably null
R4320:Plekha5 UTSW 6 140,489,543 (GRCm39) missense possibly damaging 0.68
R4343:Plekha5 UTSW 6 140,501,780 (GRCm39) missense probably damaging 0.99
R4359:Plekha5 UTSW 6 140,537,414 (GRCm39) missense probably benign 0.07
R4377:Plekha5 UTSW 6 140,525,191 (GRCm39) missense probably damaging 1.00
R4480:Plekha5 UTSW 6 140,472,205 (GRCm39) missense probably damaging 1.00
R4533:Plekha5 UTSW 6 140,516,057 (GRCm39) missense probably damaging 1.00
R4623:Plekha5 UTSW 6 140,496,912 (GRCm39) missense probably damaging 0.98
R4672:Plekha5 UTSW 6 140,470,655 (GRCm39) missense probably damaging 0.98
R4871:Plekha5 UTSW 6 140,471,636 (GRCm39) missense probably damaging 1.00
R4903:Plekha5 UTSW 6 140,532,093 (GRCm39) missense probably damaging 1.00
R5121:Plekha5 UTSW 6 140,525,200 (GRCm39) missense probably damaging 1.00
R5156:Plekha5 UTSW 6 140,372,254 (GRCm39) missense probably damaging 1.00
R5376:Plekha5 UTSW 6 140,496,870 (GRCm39) missense probably damaging 1.00
R5445:Plekha5 UTSW 6 140,498,459 (GRCm39) nonsense probably null
R5753:Plekha5 UTSW 6 140,482,730 (GRCm39) critical splice acceptor site probably null
R5836:Plekha5 UTSW 6 140,372,250 (GRCm39) missense probably damaging 1.00
R5972:Plekha5 UTSW 6 140,518,639 (GRCm39) missense possibly damaging 0.78
R6196:Plekha5 UTSW 6 140,525,179 (GRCm39) missense probably benign 0.28
R6254:Plekha5 UTSW 6 140,532,162 (GRCm39) missense probably damaging 1.00
R6501:Plekha5 UTSW 6 140,471,655 (GRCm39) nonsense probably null
R6620:Plekha5 UTSW 6 140,518,601 (GRCm39) missense probably damaging 1.00
R6663:Plekha5 UTSW 6 140,523,016 (GRCm39) missense probably damaging 1.00
R6823:Plekha5 UTSW 6 140,471,584 (GRCm39) missense probably benign 0.16
R6992:Plekha5 UTSW 6 140,489,634 (GRCm39) missense probably damaging 1.00
R7196:Plekha5 UTSW 6 140,489,648 (GRCm39) missense possibly damaging 0.83
R7487:Plekha5 UTSW 6 140,516,059 (GRCm39) missense probably benign 0.25
R7493:Plekha5 UTSW 6 140,526,161 (GRCm39) missense probably benign 0.02
R7557:Plekha5 UTSW 6 140,372,271 (GRCm39) missense probably damaging 0.96
R7743:Plekha5 UTSW 6 140,501,712 (GRCm39) missense probably damaging 1.00
R7792:Plekha5 UTSW 6 140,534,950 (GRCm39) missense possibly damaging 0.80
R7808:Plekha5 UTSW 6 140,529,640 (GRCm39) missense probably damaging 1.00
R7910:Plekha5 UTSW 6 140,472,184 (GRCm39) missense possibly damaging 0.89
R7944:Plekha5 UTSW 6 140,526,201 (GRCm39) missense possibly damaging 0.48
R7945:Plekha5 UTSW 6 140,526,201 (GRCm39) missense possibly damaging 0.48
R7992:Plekha5 UTSW 6 140,472,267 (GRCm39) missense probably damaging 1.00
R8979:Plekha5 UTSW 6 140,496,818 (GRCm39) missense probably damaging 1.00
R9024:Plekha5 UTSW 6 140,370,176 (GRCm39) missense probably benign 0.10
R9135:Plekha5 UTSW 6 140,480,239 (GRCm39) missense probably damaging 1.00
R9215:Plekha5 UTSW 6 140,501,733 (GRCm39) missense possibly damaging 0.79
R9241:Plekha5 UTSW 6 140,525,204 (GRCm39) critical splice donor site probably null
R9447:Plekha5 UTSW 6 140,525,192 (GRCm39) missense probably damaging 1.00
R9625:Plekha5 UTSW 6 140,372,253 (GRCm39) missense probably benign 0.24
X0027:Plekha5 UTSW 6 140,370,149 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2013-08-08