Incidental Mutation 'R0105:Plekha5'
ID 33259
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 038391-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R0105 (G1)
Quality Score 225
Status Validated (trace)
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik G A 6: 133,271,277 (GRCm39) R107K probably benign Het
A530053G22Rik T C 6: 60,379,137 (GRCm39) noncoding transcript Het
Adcy9 A G 16: 4,106,252 (GRCm39) V954A probably damaging Het
Aldh8a1 T A 10: 21,271,438 (GRCm39) M388K probably damaging Het
Ankhd1 A G 18: 36,779,819 (GRCm39) I1720M probably damaging Het
Atp6v0a4 T C 6: 38,030,064 (GRCm39) probably benign Het
C1qtnf4 T A 2: 90,720,707 (GRCm39) *327R probably null Het
C1s1 T C 6: 124,518,277 (GRCm39) probably benign Het
Cdsn A C 17: 35,867,035 (GRCm39) R521S possibly damaging Het
Cgnl1 T C 9: 71,563,384 (GRCm39) M848V probably benign Het
Cog3 A G 14: 75,959,580 (GRCm39) S591P probably damaging Het
Col6a3 A G 1: 90,725,883 (GRCm39) V1375A possibly damaging Het
Cplane1 T A 15: 8,216,876 (GRCm39) V698D probably benign Het
Cr1l A G 1: 194,794,720 (GRCm39) probably benign Het
Crmp1 T A 5: 37,441,479 (GRCm39) D520E probably damaging Het
Ctdspl2 T A 2: 121,807,801 (GRCm39) probably benign Het
Dnah6 C T 6: 73,132,262 (GRCm39) A1147T probably damaging Het
Dsg2 T C 18: 20,735,111 (GRCm39) S1030P probably benign Het
Elavl3 C A 9: 21,948,129 (GRCm39) V12F possibly damaging Het
Fam20b T C 1: 156,518,140 (GRCm39) E218G probably damaging Het
Fam227a T C 15: 79,505,033 (GRCm39) D466G possibly damaging Het
Fto G A 8: 92,249,430 (GRCm39) E421K probably damaging Het
Gab2 T C 7: 96,948,279 (GRCm39) Y290H probably damaging Het
Gm973 A G 1: 59,621,633 (GRCm39) Q591R probably null Het
Gsdmc2 T C 15: 63,700,026 (GRCm39) T249A probably benign Het
Il15ra T A 2: 11,735,459 (GRCm39) probably null Het
Il1rl1 CTTGTTGTTGTTGTTGTTG CTTGTTGTTGTTGTTGTTGTTG 1: 40,481,734 (GRCm39) probably benign Het
Il6ra A G 3: 89,784,125 (GRCm39) I382T probably damaging Het
Isy1 G A 6: 87,796,167 (GRCm39) R257W probably damaging Het
Krt76 T C 15: 101,793,347 (GRCm39) T564A unknown Het
Lhpp T C 7: 132,232,254 (GRCm39) S57P probably damaging Het
Lrrk1 G T 7: 65,942,089 (GRCm39) D716E probably damaging Het
Mcm3ap T A 10: 76,335,368 (GRCm39) D1263E probably damaging Het
Mogat1 A G 1: 78,500,307 (GRCm39) T124A probably benign Het
Mroh7 T C 4: 106,568,467 (GRCm39) T48A possibly damaging Het
Nccrp1 T C 7: 28,246,463 (GRCm39) D33G probably benign Het
Neurog1 G T 13: 56,399,050 (GRCm39) D232E probably benign Het
Or4a71 T C 2: 89,358,707 (GRCm39) T16A probably benign Het
Or4c105 T A 2: 88,648,253 (GRCm39) V246D probably damaging Het
Otog C A 7: 45,937,790 (GRCm39) T1833K possibly damaging Het
Perm1 C A 4: 156,302,682 (GRCm39) H409N probably benign Het
Pik3r5 A T 11: 68,381,337 (GRCm39) E174D probably damaging Het
Pkhd1 G A 1: 20,593,956 (GRCm39) Q1386* probably null Het
Pla2r1 T C 2: 60,345,325 (GRCm39) R344G possibly damaging Het
Plekhg4 G A 8: 106,108,644 (GRCm39) V1202M possibly damaging Het
Ppil4 A G 10: 7,674,210 (GRCm39) Y118C probably damaging Het
Prrc2b G T 2: 32,103,323 (GRCm39) E934* probably null Het
Psmb9 A G 17: 34,406,249 (GRCm39) F12S probably benign Het
Ptdss2 T C 7: 140,732,793 (GRCm39) W183R probably damaging Het
Ptpn4 C T 1: 119,615,335 (GRCm39) probably null Het
Reln G A 5: 22,253,813 (GRCm39) R600W probably damaging Het
Scml4 T A 10: 42,806,595 (GRCm39) V161E probably damaging Het
Sdcbp2 A T 2: 151,431,478 (GRCm39) T284S probably benign Het
Slc22a29 T C 19: 8,137,991 (GRCm39) probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Spen T C 4: 141,197,121 (GRCm39) probably benign Het
Sumf2 T A 5: 129,878,735 (GRCm39) probably benign Het
Tbx10 A G 19: 4,043,121 (GRCm39) probably benign Het
Tex10 C A 4: 48,468,957 (GRCm39) V73F probably damaging Het
Tgm5 C A 2: 120,907,493 (GRCm39) G77W probably damaging Het
Tnfrsf21 T A 17: 43,351,082 (GRCm39) probably null Het
Treml2 C T 17: 48,609,856 (GRCm39) T96I probably damaging Het
Trim65 T C 11: 116,016,892 (GRCm39) *523W probably null Het
Zcchc17 T A 4: 130,243,099 (GRCm39) D28V probably benign Het
Zhx2 T C 15: 57,686,091 (GRCm39) F487L probably damaging Het
Zkscan6 T A 11: 65,712,811 (GRCm39) L248Q probably damaging 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
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
R0363: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 PCR Primer
(F):5'- AGTTTTAACATGCCAGTCTGTCCCC -3'
(R):5'- TCCTTGAGTACAGGAACTGCGAGAG -3'

Sequencing Primer
(F):5'- GCCAGTCTGTCCCCATCAG -3'
(R):5'- agcaccaactgctcttcc -3'
Posted On 2013-05-09