Incidental Mutation 'R4871:Plekha5'
ID 376583
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 042481-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R4871 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 140369780-140542836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140471636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 20 (Y20C)
Ref Sequence ENSEMBL: ENSMUSP00000145336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087622] [ENSMUST00000203517] [ENSMUST00000203774] [ENSMUST00000204145] [ENSMUST00000204876]
AlphaFold E9Q6H8
Predicted Effect probably damaging
Transcript: ENSMUST00000087622
AA Change: Y129C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: Y129C

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: ENSMUST00000203517
AA Change: Y129C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: Y129C

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 probably damaging
Transcript: ENSMUST00000203774
AA Change: Y20C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144832
Gene: ENSMUSG00000030231
AA Change: Y20C

DomainStartEndE-ValueType
PH 62 162 8.6e-20 SMART
Blast:PH 477 511 4e-8 BLAST
low complexity region 512 521 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000203955
AA Change: Y52C
Predicted Effect probably damaging
Transcript: ENSMUST00000204145
AA Change: Y129C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145457
Gene: ENSMUSG00000030231
AA Change: Y129C

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 damaging
Transcript: ENSMUST00000204876
AA Change: Y20C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145336
Gene: ENSMUSG00000030231
AA Change: Y20C

DomainStartEndE-ValueType
PH 62 162 8.6e-20 SMART
Blast:PH 483 517 3e-8 BLAST
low complexity region 518 527 N/A INTRINSIC
Meta Mutation Damage Score 0.4611 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 93% (99/107)
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 A G 6: 55,457,078 (GRCm39) T270A probably null Het
Adgrv1 A T 13: 81,681,241 (GRCm39) probably benign Het
Aldh1b1 A T 4: 45,803,383 (GRCm39) D307V probably benign Het
Aldh3a2 A T 11: 61,153,065 (GRCm39) C220* probably null Het
Ank2 T C 3: 126,753,444 (GRCm39) Y279C probably damaging Het
Anks1 T C 17: 28,210,351 (GRCm39) Y444H probably benign Het
Asph G T 4: 9,531,968 (GRCm39) T383K probably benign Het
Asphd1 G T 7: 126,547,747 (GRCm39) S185R possibly damaging Het
Bcl2a1d T A 9: 88,613,748 (GRCm39) I9F probably damaging Het
Bcl2l11 T C 2: 127,970,961 (GRCm39) probably benign Het
C2cd3 T G 7: 100,062,581 (GRCm39) S656A possibly damaging Het
Cd5l T C 3: 87,274,929 (GRCm39) V156A probably damaging Het
Cdh8 G C 8: 99,757,536 (GRCm39) N687K probably damaging Het
Cdk19 A G 10: 40,352,232 (GRCm39) D338G probably benign Het
Cenpf A G 1: 189,390,728 (GRCm39) C1035R probably damaging Het
Cep290 A G 10: 100,384,776 (GRCm39) R1845G probably benign Het
Cep295nl G T 11: 118,224,650 (GRCm39) Q65K probably damaging Het
Ciz1 T C 2: 32,262,300 (GRCm39) probably benign Het
Clasrp T C 7: 19,324,173 (GRCm39) D234G possibly damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Ddr2 A G 1: 169,832,340 (GRCm39) V150A probably benign Het
Dennd10 A G 19: 60,819,252 (GRCm39) E120G probably damaging Het
Dnah7b T C 1: 46,120,604 (GRCm39) S74P probably benign Het
Dnttip2 C A 3: 122,078,750 (GRCm39) A743E probably damaging Het
Dysf A T 6: 84,044,005 (GRCm39) Q281L possibly damaging Het
Ece2 A G 16: 20,462,905 (GRCm39) E610G probably damaging Het
Edem3 T G 1: 151,679,982 (GRCm39) probably null Het
Ext1 G T 15: 52,955,773 (GRCm39) N441K probably benign Het
Fam118a A G 15: 84,942,969 (GRCm39) R333G probably damaging Het
Fat4 C T 3: 38,945,754 (GRCm39) T1549I probably damaging Het
Fbxo4 A G 15: 4,005,394 (GRCm39) V162A probably damaging Het
Fgd2 A G 17: 29,592,223 (GRCm39) H385R possibly damaging Het
Garnl3 A T 2: 32,977,100 (GRCm39) M1K probably null Het
Gm37267 T G 1: 180,338,083 (GRCm39) noncoding transcript Het
Gpbar1 C T 1: 74,318,702 (GRCm39) A315V probably damaging Het
Grm2 T C 9: 106,524,844 (GRCm39) I624V probably benign Het
Hmcn1 T C 1: 150,468,836 (GRCm39) I5042V probably benign Het
Hnf4g T C 3: 3,716,448 (GRCm39) Y291H possibly damaging Het
Ighm A G 12: 113,385,241 (GRCm39) S240P unknown Het
Igkv4-91 A G 6: 68,745,604 (GRCm39) I98T probably damaging Het
Krt72 T C 15: 101,694,469 (GRCm39) N142S probably damaging Het
Kynu T A 2: 43,569,830 (GRCm39) Y371N possibly damaging Het
Ly9 G T 1: 171,434,898 (GRCm39) probably benign Het
Man1a2 C A 3: 100,524,372 (GRCm39) V359F probably damaging Het
Mast1 T C 8: 85,647,287 (GRCm39) I623M probably damaging Het
Mb A G 15: 76,906,687 (GRCm39) probably null Het
Mcm4 A C 16: 15,452,374 (GRCm39) L113* probably null Het
Mcub C T 3: 129,710,685 (GRCm39) W249* probably null Het
Mme T A 3: 63,247,453 (GRCm39) V246E probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrpl38 A G 11: 116,025,098 (GRCm39) Y232H probably damaging Het
Myh7b T A 2: 155,455,420 (GRCm39) M89K probably benign Het
Notch4 A G 17: 34,796,536 (GRCm39) S892G possibly damaging Het
Nt5dc3 A G 10: 86,652,941 (GRCm39) Y245C probably damaging Het
Ntn1 CCTTCTTCT CCTTCT 11: 68,103,852 (GRCm39) probably benign Het
Or12d12 T A 17: 37,611,095 (GRCm39) T73S probably benign Het
Or12d14-ps1 A T 17: 37,673,337 (GRCm39) I107L probably benign Het
Or14a259 A T 7: 86,012,692 (GRCm39) N284K probably damaging Het
Or5m12 T A 2: 85,734,715 (GRCm39) I228F probably benign Het
Or8b36 G T 9: 37,937,822 (GRCm39) C240F probably damaging Het
Or8k28 A T 2: 86,286,153 (GRCm39) I154N possibly damaging Het
Palld A T 8: 62,002,815 (GRCm39) probably benign Het
Pcdhga10 T C 18: 37,881,253 (GRCm39) V338A probably damaging Het
Pcdhga11 A G 18: 37,890,459 (GRCm39) Y489C probably damaging Het
Pgm2 T C 5: 64,261,237 (GRCm39) Y244H probably benign Het
Phactr4 A T 4: 132,105,759 (GRCm39) S102R probably damaging Het
Rdh19 A G 10: 127,696,013 (GRCm39) D255G probably benign Het
Rgs3 T C 4: 62,549,532 (GRCm39) V438A probably benign Het
Rnf186 A G 4: 138,695,254 (GRCm39) T265A probably benign Het
Ror1 T C 4: 100,283,195 (GRCm39) F420S probably benign Het
Rtkn2 A G 10: 67,841,463 (GRCm39) K204E probably damaging Het
Rundc1 A G 11: 101,324,874 (GRCm39) T527A probably benign Het
Samd4 T C 14: 47,303,920 (GRCm39) S301P probably damaging Het
Scaf1 G A 7: 44,655,303 (GRCm39) probably benign Het
Srgap2 A G 1: 131,217,210 (GRCm39) V1034A probably benign Het
Stab2 T C 10: 86,778,099 (GRCm39) D743G probably damaging Het
Stim1 A T 7: 102,003,779 (GRCm39) I71F probably damaging Het
Stk17b T C 1: 53,796,693 (GRCm39) D358G probably benign Het
Sun2 A G 15: 79,611,765 (GRCm39) Y551H probably damaging Het
Tas2r110 A T 6: 132,845,091 (GRCm39) T41S probably benign Het
Tead3 T A 17: 28,552,589 (GRCm39) E268V probably damaging Het
Tead3 A G 17: 28,553,962 (GRCm39) S131P probably benign Het
Tepsin A T 11: 119,982,351 (GRCm39) M505K possibly damaging Het
Trbv28 A G 6: 41,248,668 (GRCm39) Y66C possibly damaging Het
Ttc6 A G 12: 57,749,142 (GRCm39) Q1358R probably damaging Het
Ttll2 C T 17: 7,618,998 (GRCm39) V310I probably benign Het
Uaca T C 9: 60,753,283 (GRCm39) V76A probably damaging Het
Vwf A T 6: 125,663,425 (GRCm39) T2789S probably benign Het
Yipf4 T C 17: 74,801,089 (GRCm39) F136L probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp804b A T 5: 6,926,479 (GRCm39) D51E probably damaging Het
Zfyve9 C T 4: 108,538,183 (GRCm39) G969R 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
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
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'- TGCTCACTCATGTTAGGCTAGAATTAG -3'
(R):5'- GCTGATTCAACAGAATACCCATTC -3'

Sequencing Primer
(F):5'- GGCAACAGCATTAAAGTATTATTACC -3'
(R):5'- TCAACAGAATACCCATTCCCTCATAC -3'
Posted On 2016-03-17