Incidental Mutation 'R8979:Plekha5'
ID 683631
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 068812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R8979 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 140369780-140542836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140496818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 435 (S435P)
Ref Sequence ENSEMBL: ENSMUSP00000144832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087622] [ENSMUST00000203012] [ENSMUST00000203517] [ENSMUST00000203774] [ENSMUST00000204080] [ENSMUST00000204145] [ENSMUST00000204876] [ENSMUST00000205026]
AlphaFold E9Q6H8
Predicted Effect probably damaging
Transcript: ENSMUST00000087622
AA Change: S550P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: S550P

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: S168P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: S168P

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: ENSMUST00000203517
AA Change: S544P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: S544P

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: S435P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144832
Gene: ENSMUSG00000030231
AA Change: S435P

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000204080
AA Change: S178P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
AA Change: S178P

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 probably damaging
Transcript: ENSMUST00000204876
AA Change: S441P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145336
Gene: ENSMUSG00000030231
AA Change: S441P

DomainStartEndE-ValueType
PH 62 162 8.6e-20 SMART
Blast:PH 483 517 3e-8 BLAST
low complexity region 518 527 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205026
AA Change: S123P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
AA Change: S123P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 59,932,545 (GRCm39) R353S probably damaging Het
Ablim3 C T 18: 61,982,397 (GRCm39) V183I probably benign Het
Adgrb3 T A 1: 25,527,115 (GRCm39) Q607L probably benign Het
Adgrl1 A G 8: 84,665,015 (GRCm39) D1234G probably benign Het
Alms1 A G 6: 85,598,009 (GRCm39) Y945C probably damaging Het
Arhgef26 T A 3: 62,246,969 (GRCm39) W18R possibly damaging Het
Caskin1 G T 17: 24,717,899 (GRCm39) A229S possibly damaging Het
Celsr1 A T 15: 85,847,340 (GRCm39) S1466T probably damaging Het
Cftr T C 6: 18,227,947 (GRCm39) Y380H probably benign Het
Ciapin1 A T 8: 95,549,753 (GRCm39) L301Q probably damaging Het
Clec1b A G 6: 129,380,537 (GRCm39) E151G probably benign Het
Cngb1 G A 8: 96,004,913 (GRCm39) probably benign Het
Cntln T A 4: 85,048,910 (GRCm39) V240E probably damaging Het
Cog5 A G 12: 31,840,894 (GRCm39) T240A probably benign Het
Col5a3 G A 9: 20,686,597 (GRCm39) P1343S unknown Het
Cspp1 T A 1: 10,134,630 (GRCm39) S127T probably benign Het
Dnah9 T G 11: 65,895,978 (GRCm39) M2466L probably benign Het
Fbn2 C T 18: 58,286,928 (GRCm39) G244R probably damaging Het
Fbxw13 A T 9: 109,013,197 (GRCm39) W247R probably damaging Het
Gbp4 G A 5: 105,267,248 (GRCm39) T557M probably benign Het
Ide G A 19: 37,302,711 (GRCm39) A133V Het
Il2rb C A 15: 78,376,052 (GRCm39) probably benign Het
Itgb1 A G 8: 129,448,951 (GRCm39) E519G probably benign Het
Kifc1 A G 17: 34,102,228 (GRCm39) Y462H possibly damaging Het
Krt1 A G 15: 101,755,340 (GRCm39) F473S probably benign Het
Llgl1 C T 11: 60,601,129 (GRCm39) A689V probably benign Het
Lrrc37a C A 11: 103,393,833 (GRCm39) V531L possibly damaging Het
Mid1 C G X: 168,768,003 (GRCm39) P384A probably benign Het
Mid1 G A X: 168,768,009 (GRCm39) A386T probably benign Het
Mms22l C T 4: 24,580,070 (GRCm39) L760F probably benign Het
Mplkipl1 A G 19: 61,164,169 (GRCm39) Y89H probably damaging Het
Mst1r C T 9: 107,792,478 (GRCm39) R951C probably damaging Het
Naalad2 G A 9: 18,242,146 (GRCm39) T586M probably damaging Het
Or4c108 C T 2: 88,804,173 (GRCm39) V21I probably benign Het
Oxct2b A G 4: 123,011,169 (GRCm39) N363S probably benign Het
Padi6 T G 4: 140,466,474 (GRCm39) N145T probably benign Het
Plcl2 T A 17: 50,947,145 (GRCm39) M1008K possibly damaging Het
Prkacb C A 3: 146,518,411 (GRCm39) G10C probably benign Het
Psg29 A T 7: 16,937,544 (GRCm39) probably benign Het
Ptpn4 T C 1: 119,671,120 (GRCm39) T213A probably damaging Het
Ptpro A G 6: 137,345,140 (GRCm39) I49V probably benign Het
Rassf1 A G 9: 107,429,004 (GRCm39) D70G probably benign Het
Rbm24 A T 13: 46,572,531 (GRCm39) T9S probably damaging Het
Rp1 T C 1: 4,218,937 (GRCm39) T948A unknown Het
Ryr2 A T 13: 11,609,924 (GRCm39) C4301S probably benign Het
S100pbp T C 4: 129,076,133 (GRCm39) D64G probably damaging Het
Samd3 A G 10: 26,120,428 (GRCm39) K141E possibly damaging Het
Scgb1b29 A T 7: 32,141,277 (GRCm39) K65* probably null Het
Shoc1 T C 4: 59,047,276 (GRCm39) T1448A possibly damaging Het
Slc51b T C 9: 65,320,210 (GRCm39) N86D probably benign Het
Slc6a3 G A 13: 73,715,720 (GRCm39) V452I probably benign Het
Sobp A G 10: 42,896,976 (GRCm39) probably null Het
Spats2 T C 15: 99,110,123 (GRCm39) S507P possibly damaging Het
Spns3 C T 11: 72,420,416 (GRCm39) A357T probably damaging Het
Suox A T 10: 128,507,367 (GRCm39) H220Q probably damaging Het
Tbc1d9b A T 11: 50,061,809 (GRCm39) S1106C probably benign Het
Tbx1 T C 16: 18,406,745 (GRCm39) D9G unknown Het
Tcaf2 A T 6: 42,601,404 (GRCm39) F885Y probably damaging Het
Tgoln1 T C 6: 72,593,262 (GRCm39) T73A probably benign Het
Tigd3 G A 19: 5,941,853 (GRCm39) P426S probably benign Het
Tmem233 T A 5: 116,221,260 (GRCm39) probably benign Het
Tnfrsf11a A G 1: 105,754,825 (GRCm39) D299G possibly damaging Het
Trim32 T C 4: 65,531,692 (GRCm39) V83A possibly damaging Het
Unc13a A T 8: 72,113,125 (GRCm39) M242K probably benign Het
Vat1 C T 11: 101,353,041 (GRCm39) G293D probably damaging Het
Vmn1r174 T A 7: 23,453,892 (GRCm39) V186D possibly damaging Het
Wdfy3 A G 5: 102,096,764 (GRCm39) Y345H probably damaging Het
Zzef1 C T 11: 72,766,003 (GRCm39) T1510I 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
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
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'- TTCTGGTCATGAGAAGACAGGG -3'
(R):5'- TTTTCAAGCCAGGGTGAGAG -3'

Sequencing Primer
(F):5'- CATGAGAAGACAGGGCCGGG -3'
(R):5'- GATGAATTTTTAAGAGAACAGCCTTG -3'
Posted On 2021-10-11