Incidental Mutation 'R4903:Plekha5'
ID 377941
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 042506-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R4903 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 140369780-140542836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140532093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 586 (M586K)
Ref Sequence ENSEMBL: ENSMUSP00000145499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087622] [ENSMUST00000203012] [ENSMUST00000203483] [ENSMUST00000203517] [ENSMUST00000204080] [ENSMUST00000205026] [ENSMUST00000204145] [ENSMUST00000213444]
AlphaFold E9Q6H8
Predicted Effect probably damaging
Transcript: ENSMUST00000087622
AA Change: M1065K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: M1065K

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 damaging
Transcript: ENSMUST00000203012
AA Change: M586K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: M586K

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 damaging
Transcript: ENSMUST00000203483
AA Change: M120K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145219
Gene: ENSMUSG00000030231
AA Change: M120K

DomainStartEndE-ValueType
low complexity region 261 279 N/A INTRINSIC
low complexity region 298 313 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000203517
AA Change: M957K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: M957K

DomainStartEndE-ValueType
WW 12 44 9e-6 SMART
WW 58 90 1.3e-6 SMART
PH 171 271 8.6e-20 SMART
Blast:PH 586 697 3e-15 BLAST
coiled coil region 702 736 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000203955
AA Change: M912K
Predicted Effect probably benign
Transcript: ENSMUST00000204080
AA Change: M533K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
AA Change: M533K

DomainStartEndE-ValueType
Blast:PH 220 260 1e-8 BLAST
coiled coil region 278 312 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000205026
AA Change: M478K

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
AA Change: M478K

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 noncoding transcript
Transcript: ENSMUST00000204528
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 probably benign
Transcript: ENSMUST00000213444
AA Change: M392K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G T 5: 138,645,119 (GRCm39) E335* probably null Het
Abca9 A G 11: 110,037,827 (GRCm39) Y508H probably damaging Het
Abcc9 A T 6: 142,546,691 (GRCm39) L1347H probably damaging Het
Acox3 A G 5: 35,747,080 (GRCm39) N166D probably damaging Het
Adam5 T C 8: 25,276,248 (GRCm39) Y473C probably damaging Het
Agbl2 A G 2: 90,627,817 (GRCm39) I207M possibly damaging Het
Akna C A 4: 63,292,274 (GRCm39) R1130S probably damaging Het
Alg12 A T 15: 88,698,743 (GRCm39) I194N probably damaging Het
Alk T A 17: 72,176,558 (GRCm39) H1582L probably damaging Het
Atn1 G C 6: 124,720,220 (GRCm39) probably benign Het
Carhsp1 T C 16: 8,478,864 (GRCm39) T130A probably damaging Het
Chrna3 T C 9: 54,922,810 (GRCm39) T333A probably benign Het
Ctsr T A 13: 61,310,945 (GRCm39) I34L probably benign Het
Cxcl16 A G 11: 70,346,519 (GRCm39) V208A probably benign Het
Dars2 G C 1: 160,878,941 (GRCm39) P362R probably benign Het
Dnah10 A G 5: 124,894,812 (GRCm39) E3459G probably damaging Het
Dus2 G A 8: 106,771,437 (GRCm39) D188N probably benign Het
Ece2 C T 16: 20,449,972 (GRCm39) R189* probably null Het
Egfr A T 11: 16,858,949 (GRCm39) D976V probably damaging Het
Egr2 T A 10: 67,374,163 (GRCm39) I51N probably damaging Het
Exoc3l4 A G 12: 111,395,155 (GRCm39) H591R probably benign Het
G2e3 A G 12: 51,418,413 (GRCm39) I603V probably benign Het
Gm11564 A C 11: 99,705,858 (GRCm39) C191G unknown Het
Gpatch8 A G 11: 102,370,959 (GRCm39) S860P unknown Het
Gprin1 C G 13: 54,885,742 (GRCm39) W844S probably damaging Het
Hhipl2 T A 1: 183,207,698 (GRCm39) Y252* probably null Het
Hormad1 T A 3: 95,492,531 (GRCm39) probably null Het
Hrg A G 16: 22,779,901 (GRCm39) probably benign Het
Hsh2d C T 8: 72,947,372 (GRCm39) A23V probably benign Het
Ints6 A G 14: 62,939,911 (GRCm39) L593P probably damaging Het
Jak2 A G 19: 29,252,436 (GRCm39) S129G probably benign Het
Kif1a C T 1: 92,949,456 (GRCm39) E1579K probably damaging Het
Lhcgr A T 17: 89,049,789 (GRCm39) I579N probably damaging Het
Lrig3 A T 10: 125,832,482 (GRCm39) probably null Het
Man2c1 C A 9: 57,046,240 (GRCm39) Q465K probably benign Het
Map3k5 T A 10: 19,994,235 (GRCm39) L1043Q probably null Het
Map4k1 A T 7: 28,682,427 (GRCm39) H16L probably benign Het
Mapk8ip3 A G 17: 25,120,183 (GRCm39) S946P probably benign Het
Mrpl50 T C 4: 49,514,488 (GRCm39) Y61C probably damaging Het
Myf5 A T 10: 107,321,733 (GRCm39) C20* probably null Het
Nek11 T C 9: 105,191,921 (GRCm39) K163R possibly damaging Het
Or1l4b A T 2: 37,036,383 (GRCm39) H53L probably benign Het
Or4c105 A T 2: 88,648,342 (GRCm39) I276L probably benign Het
Pcdhga9 C A 18: 37,872,058 (GRCm39) T629K probably damaging Het
Pglyrp1 A G 7: 18,624,128 (GRCm39) N137S probably benign Het
Pip5k1a T C 3: 94,978,094 (GRCm39) I275V probably benign Het
Pitpnm2 T A 5: 124,290,668 (GRCm39) Y6F probably damaging Het
Pkd1 T G 17: 24,790,976 (GRCm39) V1057G probably benign Het
Plcb3 C A 19: 6,933,211 (GRCm39) R970L probably damaging Het
Ppp4r4 T A 12: 103,557,030 (GRCm39) probably null Het
Rasal3 C T 17: 32,616,357 (GRCm39) C278Y probably damaging Het
Rbm34 T C 8: 127,678,087 (GRCm39) D269G possibly damaging Het
Rnf32 G A 5: 29,403,576 (GRCm39) R7H probably benign Het
Sema3d A G 5: 12,613,125 (GRCm39) K401E probably benign Het
Sema7a T C 9: 57,862,378 (GRCm39) Y194H probably benign Het
Senp5 A T 16: 31,802,117 (GRCm39) Y585N probably damaging Het
Serpinb9 T A 13: 33,192,847 (GRCm39) W135R probably damaging Het
Shbg C T 11: 69,505,912 (GRCm39) S365N probably benign Het
Slc39a6 A T 18: 24,730,925 (GRCm39) S65T probably damaging Het
Stk3 T C 15: 34,959,212 (GRCm39) E320G probably damaging Het
Syk T A 13: 52,765,117 (GRCm39) H81Q probably damaging Het
Tet1 A G 10: 62,658,437 (GRCm39) W1470R probably damaging Het
Thada C A 17: 84,559,828 (GRCm39) V1450L possibly damaging Het
Tmem241 A G 18: 12,237,176 (GRCm39) S87P probably damaging Het
Trdv1 T A 14: 54,119,375 (GRCm39) probably benign Het
Trim40 T C 17: 37,194,117 (GRCm39) E192G possibly damaging Het
Trip11 A T 12: 101,853,065 (GRCm39) probably null Het
Trmt2a T A 16: 18,067,418 (GRCm39) C30* probably null Het
Tshr A G 12: 91,367,962 (GRCm39) D35G probably benign Het
Tssc4 T C 7: 142,624,322 (GRCm39) V210A probably damaging Het
Ttk T A 9: 83,747,201 (GRCm39) I680N probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Txnl4a T C 18: 80,250,493 (GRCm39) F30L probably damaging Het
Ubac2 G T 14: 122,231,650 (GRCm39) C192F probably benign Het
Vmn1r12 A G 6: 57,136,502 (GRCm39) T156A possibly damaging Het
Zfp747l1 T A 7: 126,984,578 (GRCm39) T175S 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
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
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'- TAGTGCTTCTGATGTGCCCC -3'
(R):5'- CAGTGAAGAGCAATGACATCAC -3'

Sequencing Primer
(F):5'- TGAGACAATGATCTCATGCTCTCCAG -3'
(R):5'- TGACATCACAGTTAAGTCAGGGTAC -3'
Posted On 2016-04-15