Incidental Mutation 'R9165:Plekha6'
ID 695956
Institutional Source Beutler Lab
Gene Symbol Plekha6
Ensembl Gene ENSMUSG00000041757
Gene Name pleckstrin homology domain containing, family A member 6
Synonyms Pepp3
MMRRC Submission 068945-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R9165 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 133091948-133231173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 133200375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 318 (L318R)
Ref Sequence ENSEMBL: ENSMUSP00000048214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038295] [ENSMUST00000105082] [ENSMUST00000186917] [ENSMUST00000187285] [ENSMUST00000212252]
AlphaFold Q7TQG1
Predicted Effect probably damaging
Transcript: ENSMUST00000038295
AA Change: L318R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: L318R

DomainStartEndE-ValueType
PH 60 160 2.23e-20 SMART
low complexity region 217 231 N/A INTRINSIC
low complexity region 353 367 N/A INTRINSIC
Blast:PH 506 576 6e-31 BLAST
coiled coil region 613 686 N/A INTRINSIC
low complexity region 761 782 N/A INTRINSIC
low complexity region 789 808 N/A INTRINSIC
low complexity region 812 827 N/A INTRINSIC
low complexity region 1139 1153 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105082
AA Change: L338R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: L338R

DomainStartEndE-ValueType
PH 60 180 1.24e-18 SMART
low complexity region 237 251 N/A INTRINSIC
low complexity region 373 387 N/A INTRINSIC
coiled coil region 559 632 N/A INTRINSIC
low complexity region 707 728 N/A INTRINSIC
low complexity region 1035 1049 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186917
AA Change: L338R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: L338R

DomainStartEndE-ValueType
PH 60 180 1.24e-18 SMART
low complexity region 237 251 N/A INTRINSIC
low complexity region 373 387 N/A INTRINSIC
coiled coil region 559 632 N/A INTRINSIC
low complexity region 707 728 N/A INTRINSIC
low complexity region 1035 1049 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000187285
AA Change: L318R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: L318R

DomainStartEndE-ValueType
PH 60 160 9.6e-23 SMART
low complexity region 217 231 N/A INTRINSIC
low complexity region 353 367 N/A INTRINSIC
coiled coil region 539 612 N/A INTRINSIC
low complexity region 687 708 N/A INTRINSIC
low complexity region 1014 1028 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187299
Predicted Effect probably benign
Transcript: ENSMUST00000189598
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000212252
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T C 17: 48,348,357 (GRCm39) I27V probably benign Het
A2ml1 T A 6: 128,537,632 (GRCm39) H693L probably benign Het
Acacb A G 5: 114,354,744 (GRCm39) E1206G probably benign Het
Acoxl A G 2: 127,726,432 (GRCm39) T269A probably benign Het
Ak9 A G 10: 41,309,235 (GRCm39) K1879R unknown Het
Amot A T X: 144,244,745 (GRCm39) L435H Het
Bnc2 A T 4: 84,329,731 (GRCm39) L95Q Het
Bpifa2 G T 2: 153,851,741 (GRCm39) W59L probably benign Het
Cd209a T A 8: 3,795,602 (GRCm39) Q156H probably damaging Het
Cep104 T A 4: 154,078,971 (GRCm39) probably null Het
Cpt1c A G 7: 44,608,925 (GRCm39) *799R probably null Het
Csn2 A T 5: 87,842,418 (GRCm39) M203K possibly damaging Het
Dclre1a C G 19: 56,526,801 (GRCm39) A872P probably damaging Het
Dlg5 C A 14: 24,196,309 (GRCm39) L1629F probably damaging Het
Dmxl1 A G 18: 50,011,992 (GRCm39) D1383G probably damaging Het
Dnah6 A G 6: 73,121,924 (GRCm39) V1381A probably damaging Het
Dnttip2 G T 3: 122,070,355 (GRCm39) E523D probably benign Het
Dync2h1 A T 9: 7,114,883 (GRCm39) V2425D probably damaging Het
Eif1ad11 A G 12: 87,994,077 (GRCm39) S102G possibly damaging Het
Eif2a G A 3: 58,452,695 (GRCm39) R199Q probably damaging Het
F10 T C 8: 13,089,564 (GRCm39) F60L probably benign Het
Faf2 A G 13: 54,799,951 (GRCm39) I253V probably benign Het
Flt1 T A 5: 147,552,047 (GRCm39) S715C probably damaging Het
Garin4 A G 1: 190,895,258 (GRCm39) S462P probably benign Het
Gm5150 G T 3: 16,045,060 (GRCm39) T55K probably damaging Het
Gria1 T C 11: 57,076,759 (GRCm39) F121L possibly damaging Het
Gucy2d A G 7: 98,103,271 (GRCm39) Q505R probably benign Het
Gzma A T 13: 113,237,455 (GRCm39) S11T probably benign Het
Hoxa6 G A 6: 52,185,535 (GRCm39) Q24* probably null Het
Kcnj14 T A 7: 45,469,068 (GRCm39) I146L possibly damaging Het
Kiss1r G A 10: 79,756,605 (GRCm39) R149H probably damaging Het
Lama2 A G 10: 26,929,022 (GRCm39) probably null Het
Lama5 C A 2: 179,821,286 (GRCm39) R3092L probably damaging Het
Lca5l T A 16: 95,977,218 (GRCm39) N196I probably damaging Het
Lig4 A G 8: 10,022,394 (GRCm39) L462S probably damaging Het
Nbea A T 3: 55,912,289 (GRCm39) V1166E probably benign Het
Nr2c1 T A 10: 94,017,465 (GRCm39) F401Y probably benign Het
Or10ak12 T A 4: 118,666,195 (GRCm39) R289* probably null Het
Or14c43 A T 7: 86,114,825 (GRCm39) M69L probably benign Het
Or4e5 A G 14: 52,727,830 (GRCm39) I197T possibly damaging Het
Or5an9 A T 19: 12,187,286 (GRCm39) M119L probably damaging Het
Otop3 A C 11: 115,235,424 (GRCm39) Y352S possibly damaging Het
Pm20d1 G T 1: 131,743,825 (GRCm39) V497F possibly damaging Het
Pnma2 G A 14: 67,154,572 (GRCm39) R332H probably damaging Het
Ppip5k1 C A 2: 121,162,045 (GRCm39) G1013C probably damaging Het
Prdm13 C G 4: 21,679,659 (GRCm39) R277P unknown Het
Prdm2 A G 4: 142,858,674 (GRCm39) S1539P possibly damaging Het
Ptger2 A G 14: 45,227,235 (GRCm39) T272A probably damaging Het
Qser1 T C 2: 104,618,815 (GRCm39) T576A probably benign Het
Rest GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC 5: 77,429,651 (GRCm39) probably benign Het
Sacm1l G T 9: 123,398,021 (GRCm39) V238L probably damaging Het
Sanbr T C 11: 23,565,244 (GRCm39) I248V probably benign Het
Sec16a C T 2: 26,313,645 (GRCm39) G454D Het
Sil1 A G 18: 35,450,899 (GRCm39) S259P possibly damaging Het
Sirpb1b A G 3: 15,639,964 (GRCm39) L16P probably damaging Het
Slc22a20 A T 19: 6,032,879 (GRCm39) V262D probably damaging Het
Slc4a9 G T 18: 36,666,676 (GRCm39) R580L probably benign Het
Ssr3 A G 3: 65,290,521 (GRCm39) V128A probably damaging Het
Stpg2 G T 3: 139,014,993 (GRCm39) S386I possibly damaging Het
Taar8c C A 10: 23,977,500 (GRCm39) C104F probably damaging Het
Tex2 T C 11: 106,458,095 (GRCm39) E445G unknown Het
Tmem253 A C 14: 52,256,099 (GRCm39) D126A probably benign Het
Tox4 A G 14: 52,523,247 (GRCm39) Q69R possibly damaging Het
Tpi1 T A 6: 124,788,501 (GRCm39) S254C probably benign Het
Trmt12 T G 15: 58,745,594 (GRCm39) S331A probably benign Het
Ttn A G 2: 76,543,350 (GRCm39) V33212A probably damaging Het
Tubb4a C T 17: 57,387,734 (GRCm39) E431K unknown Het
Ugt1a10 A T 1: 87,983,509 (GRCm39) E102D probably benign Het
Unc80 A T 1: 66,589,000 (GRCm39) E1055V probably null Het
Vav1 C A 17: 57,618,895 (GRCm39) S708R probably damaging Het
Vmn1r20 A G 6: 57,409,246 (GRCm39) M191V probably damaging Het
Vmn1r37 A T 6: 66,709,054 (GRCm39) T227S probably damaging Het
Vmn1r72 C A 7: 11,412,951 (GRCm39) probably benign Het
Vps33b G A 7: 79,924,434 (GRCm39) probably null Het
Vrtn T A 12: 84,697,251 (GRCm39) L667Q probably benign Het
Xirp1 G A 9: 119,847,302 (GRCm39) T527M probably benign Het
Ylpm1 T A 12: 85,077,342 (GRCm39) Y1356N probably damaging Het
Zfp980 A T 4: 145,428,024 (GRCm39) Y251F possibly damaging Het
Zmym2 A T 14: 57,185,464 (GRCm39) Y1032F probably damaging Het
Other mutations in Plekha6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Plekha6 APN 1 133,209,903 (GRCm39) missense possibly damaging 0.92
IGL01328:Plekha6 APN 1 133,200,074 (GRCm39) splice site probably null
IGL01739:Plekha6 APN 1 133,187,869 (GRCm39) missense probably benign 0.38
IGL01803:Plekha6 APN 1 133,200,152 (GRCm39) nonsense probably null
IGL02053:Plekha6 APN 1 133,200,230 (GRCm39) missense probably damaging 1.00
IGL02269:Plekha6 APN 1 133,215,587 (GRCm39) missense possibly damaging 0.82
IGL02276:Plekha6 APN 1 133,221,599 (GRCm39) missense possibly damaging 0.93
IGL02478:Plekha6 APN 1 133,211,031 (GRCm39) missense probably benign 0.03
IGL02754:Plekha6 APN 1 133,212,676 (GRCm39) missense probably damaging 0.98
G1Funyon:Plekha6 UTSW 1 133,192,425 (GRCm39) missense probably damaging 0.96
R0100:Plekha6 UTSW 1 133,197,915 (GRCm39) missense probably damaging 0.99
R0334:Plekha6 UTSW 1 133,209,918 (GRCm39) missense probably benign 0.24
R0470:Plekha6 UTSW 1 133,200,045 (GRCm39) missense probably benign 0.07
R1016:Plekha6 UTSW 1 133,187,832 (GRCm39) missense probably benign 0.00
R1254:Plekha6 UTSW 1 133,200,327 (GRCm39) missense probably benign 0.10
R1728:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1729:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1730:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1739:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1762:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1771:Plekha6 UTSW 1 133,201,651 (GRCm39) missense probably benign 0.00
R1783:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1784:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1785:Plekha6 UTSW 1 133,215,584 (GRCm39) missense probably benign
R1786:Plekha6 UTSW 1 133,207,103 (GRCm39) splice site probably null
R1997:Plekha6 UTSW 1 133,191,556 (GRCm39) missense probably benign 0.43
R2020:Plekha6 UTSW 1 133,212,708 (GRCm39) missense possibly damaging 0.55
R2130:Plekha6 UTSW 1 133,207,103 (GRCm39) splice site probably null
R2131:Plekha6 UTSW 1 133,207,103 (GRCm39) splice site probably null
R2133:Plekha6 UTSW 1 133,207,103 (GRCm39) splice site probably null
R2992:Plekha6 UTSW 1 133,222,396 (GRCm39) missense probably damaging 1.00
R3781:Plekha6 UTSW 1 133,222,393 (GRCm39) missense probably damaging 1.00
R3810:Plekha6 UTSW 1 133,201,717 (GRCm39) missense probably benign
R4067:Plekha6 UTSW 1 133,222,416 (GRCm39) missense probably benign 0.40
R4725:Plekha6 UTSW 1 133,211,058 (GRCm39) missense probably damaging 1.00
R5657:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R5658:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R5746:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R5768:Plekha6 UTSW 1 133,208,116 (GRCm39) missense probably benign 0.01
R5785:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R5892:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R5937:Plekha6 UTSW 1 133,187,839 (GRCm39) missense possibly damaging 0.89
R5985:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R5986:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R6053:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R6072:Plekha6 UTSW 1 133,200,045 (GRCm39) missense possibly damaging 0.94
R6167:Plekha6 UTSW 1 133,207,145 (GRCm39) missense probably null 0.96
R6843:Plekha6 UTSW 1 133,202,616 (GRCm39) missense probably damaging 1.00
R6879:Plekha6 UTSW 1 133,187,793 (GRCm39) missense possibly damaging 0.95
R6912:Plekha6 UTSW 1 133,200,273 (GRCm39) missense probably benign 0.02
R6970:Plekha6 UTSW 1 133,191,556 (GRCm39) missense probably benign 0.43
R7041:Plekha6 UTSW 1 133,200,198 (GRCm39) missense possibly damaging 0.93
R7248:Plekha6 UTSW 1 133,203,586 (GRCm39) nonsense probably null
R7400:Plekha6 UTSW 1 133,201,762 (GRCm39) nonsense probably null
R7720:Plekha6 UTSW 1 133,221,445 (GRCm39) missense probably damaging 1.00
R7772:Plekha6 UTSW 1 133,097,760 (GRCm39) missense possibly damaging 0.57
R8011:Plekha6 UTSW 1 133,191,544 (GRCm39) missense probably benign
R8301:Plekha6 UTSW 1 133,192,425 (GRCm39) missense probably damaging 0.96
R8387:Plekha6 UTSW 1 133,219,893 (GRCm39) splice site probably null
R8465:Plekha6 UTSW 1 133,197,778 (GRCm39) missense probably damaging 0.98
R8501:Plekha6 UTSW 1 133,215,575 (GRCm39) missense probably benign 0.34
R9025:Plekha6 UTSW 1 133,212,999 (GRCm39) missense probably benign 0.01
R9044:Plekha6 UTSW 1 133,201,688 (GRCm39) missense possibly damaging 0.95
R9044:Plekha6 UTSW 1 133,201,687 (GRCm39) missense probably benign 0.01
R9179:Plekha6 UTSW 1 133,214,085 (GRCm39) missense possibly damaging 0.90
R9186:Plekha6 UTSW 1 133,220,171 (GRCm39) missense probably damaging 1.00
R9188:Plekha6 UTSW 1 133,220,171 (GRCm39) missense probably damaging 1.00
R9321:Plekha6 UTSW 1 133,209,549 (GRCm39) missense probably damaging 0.98
Z1176:Plekha6 UTSW 1 133,200,209 (GRCm39) missense probably damaging 0.98
Z1176:Plekha6 UTSW 1 133,191,551 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGACTTTGGTAAAAGCCAATGG -3'
(R):5'- ACTGAGAATCGACTTTCCTGC -3'

Sequencing Primer
(F):5'- TCTGGACCTGAGACAGCCTC -3'
(R):5'- CACAGGCAGCTTCCAGAAGG -3'
Posted On 2022-02-07