Incidental Mutation 'R8301:Plekha6'
ID 639234
Institutional Source Beutler Lab
Gene Symbol Plekha6
Ensembl Gene ENSMUSG00000041757
Gene Name pleckstrin homology domain containing, family A member 6
Synonyms Pepp3
MMRRC Submission 067789-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R8301 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 133091948-133231173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 133192425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 78 (N78K)
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: N78K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: N78K

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 benign
Transcript: ENSMUST00000105082
AA Change: N78K

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: N78K

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 benign
Transcript: ENSMUST00000186917
AA Change: N78K

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: N78K

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 possibly damaging
Transcript: ENSMUST00000187285
AA Change: N78K

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: N78K

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 damaging
Transcript: ENSMUST00000212252
AA Change: N182K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,120,364 (GRCm39) I374F probably benign Het
Ak9 G A 10: 41,300,712 (GRCm39) V1108I Het
Aldh16a1 C T 7: 44,791,406 (GRCm39) A790T possibly damaging Het
Anks1 A T 17: 28,278,554 (GRCm39) probably benign Het
Antxr2 T G 5: 98,125,538 (GRCm39) T240P probably benign Het
Arfgef1 A T 1: 10,250,058 (GRCm39) M945K probably damaging Het
Arhgef17 T C 7: 100,528,866 (GRCm39) T1591A probably benign Het
Aurka A G 2: 172,198,850 (GRCm39) S374P probably damaging Het
Bccip T C 7: 133,320,933 (GRCm39) S236P probably benign Het
Cacna1s T A 1: 136,001,179 (GRCm39) probably benign Het
Calm1 A G 12: 100,171,944 (GRCm39) E132G probably benign Het
Casz1 A G 4: 149,030,500 (GRCm39) D1173G probably damaging Het
Cdh17 A G 4: 11,795,659 (GRCm39) D413G probably damaging Het
Cfap57 A G 4: 118,450,271 (GRCm39) I617T possibly damaging Het
Creb5 A G 6: 53,658,018 (GRCm39) D116G possibly damaging Het
Csnka2ip A C 16: 64,299,354 (GRCm39) S337A unknown Het
Ddx60 A G 8: 62,453,631 (GRCm39) E1250G probably benign Het
Dlgap2 T A 8: 14,873,577 (GRCm39) S727T probably benign Het
Dpy19l1 T C 9: 24,396,407 (GRCm39) probably benign Het
Ebf2 A G 14: 67,476,431 (GRCm39) T134A possibly damaging Het
Echdc2 A T 4: 108,030,106 (GRCm39) M136L probably benign Het
Enpp2 A G 15: 54,714,803 (GRCm39) F598S probably benign Het
Extl3 A C 14: 65,313,733 (GRCm39) L483R probably damaging Het
Gcat T C 15: 78,920,089 (GRCm39) V227A possibly damaging Het
Hsf2 A G 10: 57,381,442 (GRCm39) D344G probably damaging Het
Ighm C T 12: 113,385,165 (GRCm39) G265D Het
Igsf9b T G 9: 27,246,035 (GRCm39) probably benign Het
Ints6 A G 14: 62,939,902 (GRCm39) V596A probably benign Het
Ints8 T C 4: 11,246,120 (GRCm39) E182G probably damaging Het
Iqgap2 A G 13: 95,818,659 (GRCm39) probably null Het
Kalrn G T 16: 34,177,470 (GRCm39) Q250K probably benign Het
Lrrc1 T A 9: 77,451,770 (GRCm39) N46Y probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naa50 A G 16: 43,977,494 (GRCm39) N74S probably benign Het
Neb T C 2: 52,178,847 (GRCm39) N1303S probably benign Het
Nfs1 A T 2: 155,976,413 (GRCm39) C160* probably null Het
Or11g7 T A 14: 50,691,021 (GRCm39) S171T probably benign Het
Or52s1b T G 7: 102,822,280 (GRCm39) K188T probably damaging Het
Or5p52 A G 7: 107,502,833 (GRCm39) K303R probably benign Het
Or6c76 T C 10: 129,612,709 (GRCm39) S309P probably benign Het
Orm2 T C 4: 63,281,263 (GRCm39) F67S possibly damaging Het
Pex5 A G 6: 124,382,142 (GRCm39) S180P probably benign Het
Phf14 G C 6: 11,992,061 (GRCm39) G746R probably damaging Het
Pkm T A 9: 59,575,914 (GRCm39) V110E probably damaging Het
Plxna2 G A 1: 194,472,483 (GRCm39) V1076I probably benign Het
Polq C A 16: 36,882,181 (GRCm39) D1448E probably damaging Het
Pot1b T C 17: 55,994,895 (GRCm39) T256A probably benign Het
Prkch C T 12: 73,749,538 (GRCm39) T377I possibly damaging Het
Prl3c1 A C 13: 27,383,168 (GRCm39) probably benign Het
Prl7b1 A C 13: 27,786,755 (GRCm39) V158G possibly damaging Het
Prss22 T C 17: 24,212,955 (GRCm39) S261G probably damaging Het
Psd T C 19: 46,309,541 (GRCm39) probably benign Het
Psg18 A T 7: 18,087,302 (GRCm39) Y119N probably damaging Het
Rbm6 T G 9: 107,729,993 (GRCm39) R218S probably damaging Het
Rnf213 T A 11: 119,325,568 (GRCm39) S1491T Het
Rsf1 T C 7: 97,311,132 (GRCm39) S621P Het
Runx1 C A 16: 92,402,544 (GRCm39) *466L probably null Het
Samd4 A G 14: 47,254,135 (GRCm39) I200V probably benign Het
Sdsl C T 5: 120,597,584 (GRCm39) C241Y probably benign Het
Selenon T C 4: 134,278,725 (GRCm39) probably benign Het
Setx C T 2: 29,035,702 (GRCm39) P729L possibly damaging Het
Sf1 C T 19: 6,418,396 (GRCm39) Q55* probably null Het
Slc12a5 A T 2: 164,835,611 (GRCm39) N833I probably damaging Het
Slc1a4 T C 11: 20,282,286 (GRCm39) R63G probably damaging Het
Tmeff2 G T 1: 51,220,996 (GRCm39) A324S probably benign Het
Tmem217 A G 17: 29,745,466 (GRCm39) I88T possibly damaging Het
Tnfsf8 A T 4: 63,779,115 (GRCm39) I61N probably benign Het
Tpbgl G T 7: 99,274,774 (GRCm39) A361E probably damaging Het
Trhde T A 10: 114,322,911 (GRCm39) E667V probably benign Het
Unc13b A G 4: 43,263,568 (GRCm39) T1598A probably benign Het
Vmn2r73 A T 7: 85,507,510 (GRCm39) C601S probably benign Het
Zfp873 C A 10: 81,896,713 (GRCm39) H481Q 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
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
R9165:Plekha6 UTSW 1 133,200,375 (GRCm39) missense probably damaging 1.00
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'- GATCTCAAGGGAGTTGGCTG -3'
(R):5'- TGAATAGGTCTGAGACTGAGCTG -3'

Sequencing Primer
(F):5'- TTGGCTGCCACGTGCTAG -3'
(R):5'- TGAGACTGAGCTGACAACCCATTG -3'
Posted On 2020-07-28