Incidental Mutation 'R7493:Plekha5'
ID 580913
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 045567-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R7493 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 140369780-140542836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140526161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 933 (D933G)
Ref Sequence ENSEMBL: ENSMUSP00000084904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087622] [ENSMUST00000203012] [ENSMUST00000203483] [ENSMUST00000203517] [ENSMUST00000204080] [ENSMUST00000204145] [ENSMUST00000205026] [ENSMUST00000213444]
AlphaFold E9Q6H8
Predicted Effect probably benign
Transcript: ENSMUST00000087622
AA Change: D933G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: D933G

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: D454G

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: D454G

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
SMART Domains Protein: ENSMUSP00000145219
Gene: ENSMUSG00000030231

DomainStartEndE-ValueType
low complexity region 261 279 N/A INTRINSIC
low complexity region 298 313 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203517
SMART Domains Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231

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
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 probably benign
Transcript: ENSMUST00000205026
SMART Domains Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231

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 possibly damaging
Transcript: ENSMUST00000213444
AA Change: D260G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (74/76)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,385,257 (GRCm39) L236P possibly damaging Het
Abca7 T A 10: 79,837,896 (GRCm39) D488E probably damaging Het
Adora2a A G 10: 75,169,423 (GRCm39) K296E possibly damaging Het
Aopep A G 13: 63,163,345 (GRCm39) D122G probably benign Het
Atp13a4 T A 16: 29,290,774 (GRCm39) E225V Het
Bpifb2 A G 2: 153,731,397 (GRCm39) M258V possibly damaging Het
Brd2 G A 17: 34,341,231 (GRCm39) probably benign Het
Btaf1 G T 19: 36,987,005 (GRCm39) V1700F probably damaging Het
C2cd3 A G 7: 100,076,433 (GRCm39) I797V Het
Ccdc148 T G 2: 58,899,160 (GRCm39) E71A probably damaging Het
Ccdc18 T A 5: 108,354,483 (GRCm39) L1074* probably null Het
Ccne2 A G 4: 11,198,772 (GRCm39) D215G probably damaging Het
Cers6 T A 2: 68,692,151 (GRCm39) probably null Het
Copz1 A G 15: 103,204,971 (GRCm39) E110G probably damaging Het
Cped1 A T 6: 22,215,512 (GRCm39) D682V probably damaging Het
Crb1 A T 1: 139,164,768 (GRCm39) C1180S probably damaging Het
Cyren A T 6: 34,851,593 (GRCm39) L114Q probably damaging Het
Echdc3 A T 2: 6,194,368 (GRCm39) L229Q probably damaging Het
Etfb C T 7: 43,104,000 (GRCm39) P145L probably damaging Het
Exoc3l2 G T 7: 19,203,813 (GRCm39) R135L Het
Fam83a G A 15: 57,849,569 (GRCm39) A38T probably damaging Het
G6pc2 T C 2: 69,053,344 (GRCm39) Y133H probably benign Het
Gfy T C 7: 44,827,518 (GRCm39) I193V probably benign Het
Ggnbp2 T C 11: 84,744,899 (GRCm39) T208A probably benign Het
Gigyf1 T A 5: 137,523,795 (GRCm39) M1019K probably damaging Het
Gm45783 T C 7: 7,373,599 (GRCm39) D61G probably damaging Het
Golga5 T C 12: 102,450,835 (GRCm39) probably null Het
Ighe A G 12: 113,235,023 (GRCm39) V379A Het
Itpr3 C A 17: 27,313,774 (GRCm39) H573Q probably benign Het
Klhl2 A G 8: 65,202,809 (GRCm39) L463P probably damaging Het
Large1 T G 8: 73,550,343 (GRCm39) M619L probably benign Het
Limd1 T A 9: 123,308,748 (GRCm39) V149E probably benign Het
Lyz2 T C 10: 117,118,144 (GRCm39) K2E probably damaging Het
Man2c1 T A 9: 57,048,412 (GRCm39) S858T probably damaging Het
Nt5dc1 A T 10: 34,180,932 (GRCm39) N439K probably benign Het
Or4a2 A G 2: 89,248,145 (GRCm39) I204T probably benign Het
Or4n4b G A 14: 50,536,281 (GRCm39) L162F probably benign Het
Or4p7 T C 2: 88,222,224 (GRCm39) V211A possibly damaging Het
Or51f1 A T 7: 102,506,278 (GRCm39) Y70* probably null Het
Or5d43 T C 2: 88,105,445 (GRCm39) probably benign Het
Or7g27 A C 9: 19,250,109 (GRCm39) M118L probably damaging Het
Otogl T C 10: 107,722,843 (GRCm39) N296S probably benign Het
Patj A G 4: 98,383,298 (GRCm39) N789D probably benign Het
Pcsk6 A G 7: 65,693,314 (GRCm39) D851G possibly damaging Het
Peg3 T C 7: 6,712,723 (GRCm39) H833R probably damaging Het
Pira1 T C 7: 3,742,023 (GRCm39) E119G not run Het
Pnma1 G A 12: 84,193,903 (GRCm39) R267C probably damaging Het
Ppp3cb T A 14: 20,558,619 (GRCm39) H481L probably benign Het
Prl8a8 T C 13: 27,695,418 (GRCm39) probably null Het
Ptma GGAAGAAG GGAAGAAGAAG 1: 86,457,261 (GRCm39) probably benign Het
Ptpro C A 6: 137,359,647 (GRCm39) L406I probably benign Het
Rbpj T C 5: 53,758,276 (GRCm39) S18P probably benign Het
Rhbg C T 3: 88,154,886 (GRCm39) V173M probably damaging Het
Rps6kc1 A G 1: 190,532,254 (GRCm39) S583P probably benign Het
Ryr1 T C 7: 28,794,630 (GRCm39) S1217G probably benign Het
S1pr1 A T 3: 115,505,922 (GRCm39) I224N probably damaging Het
Sall1 C T 8: 89,757,681 (GRCm39) D808N probably benign Het
Shoc2 T C 19: 53,976,467 (GRCm39) V119A probably benign Het
Spata31h1 A T 10: 82,124,798 (GRCm39) Y2737* probably null Het
Spata31h1 T C 10: 82,152,264 (GRCm39) Y34C unknown Het
Ssh2 A T 11: 77,328,542 (GRCm39) E369D probably benign Het
Stx1b C T 7: 127,406,531 (GRCm39) V273M possibly damaging Het
Syne2 A G 12: 76,012,654 (GRCm39) H2615R probably benign Het
Tmc8 T C 11: 117,675,758 (GRCm39) I225T probably benign Het
Tmem126b A G 7: 90,121,854 (GRCm39) I52T probably benign Het
Top2b G A 14: 16,416,605 (GRCm38) D1122N probably benign Het
Trav13-2 T A 14: 53,872,363 (GRCm39) S7T possibly damaging Het
Ttc1 A T 11: 43,636,189 (GRCm39) L18Q probably damaging Het
Ttn A T 2: 76,567,553 (GRCm39) I27780N probably damaging Het
Ubfd1 T C 7: 121,666,635 (GRCm39) S44P probably benign Het
Vmn1r89 A G 7: 12,953,632 (GRCm39) K123E probably damaging Het
Vmn2r62 A C 7: 42,437,316 (GRCm39) F389L possibly damaging Het
Vps35l C T 7: 118,393,800 (GRCm39) probably null Het
Zdhhc11 T A 13: 74,121,726 (GRCm39) M79K possibly damaging Het
Zfp202 G T 9: 40,118,640 (GRCm39) V18F possibly damaging Het
Zfp39 A G 11: 58,781,869 (GRCm39) F298L possibly damaging Het
Znrf1 G A 8: 112,264,071 (GRCm39) G100D 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
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
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'- GCTTGGCAGTGTCCCTTTAACC -3'
(R):5'- ATACGGCTTCAGCAAAATGTG -3'

Sequencing Primer
(F):5'- TCTACAATCTTTAGGAAGAGG -3'
(R):5'- AGACATGATCACTCTGTGGC -3'
Posted On 2019-10-17