Incidental Mutation 'R4858:Plekhh2'
ID 372274
Institutional Source Beutler Lab
Gene Symbol Plekhh2
Ensembl Gene ENSMUSG00000040852
Gene Name pleckstrin homology domain containing, family H (with MyTH4 domain) member 2
Synonyms
MMRRC Submission 042469-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R4858 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 84819323-84929566 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84908125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1189 (I1189V)
Ref Sequence ENSEMBL: ENSMUSP00000039628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047206]
AlphaFold Q8C115
Predicted Effect probably damaging
Transcript: ENSMUST00000047206
AA Change: I1189V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: I1189V

DomainStartEndE-ValueType
coiled coil region 19 84 N/A INTRINSIC
low complexity region 119 132 N/A INTRINSIC
coiled coil region 137 174 N/A INTRINSIC
low complexity region 427 442 N/A INTRINSIC
low complexity region 579 593 N/A INTRINSIC
low complexity region 612 651 N/A INTRINSIC
low complexity region 657 666 N/A INTRINSIC
PH 703 798 4.7e-19 SMART
PH 811 920 1.15e-4 SMART
MyTH4 954 1109 8.49e-39 SMART
B41 1116 1353 1.01e-27 SMART
Meta Mutation Damage Score 0.2967 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 94% (103/109)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,225,321 (GRCm39) Y1415C probably damaging Het
Adgrf1 T C 17: 43,614,563 (GRCm39) S216P probably damaging Het
Ankrd12 T C 17: 66,338,428 (GRCm39) D197G probably damaging Het
Aoc3 C A 11: 101,222,488 (GRCm39) H198Q probably damaging Het
Aox1 C A 1: 58,143,640 (GRCm39) H1253N probably benign Het
Arg1 T A 10: 24,798,536 (GRCm39) E38V possibly damaging Het
Baz2b T A 2: 59,738,087 (GRCm39) M1741L probably benign Het
Bend4 T C 5: 67,574,915 (GRCm39) E322G probably damaging Het
Brpf1 T C 6: 113,294,639 (GRCm39) V661A possibly damaging Het
C2cd3 A T 7: 100,104,160 (GRCm39) T2058S probably damaging Het
Camk4 T C 18: 33,309,266 (GRCm39) V223A probably damaging Het
Casp1 C T 9: 5,306,742 (GRCm39) R395C probably damaging Het
Ccdc180 T G 4: 45,923,244 (GRCm39) I1066S probably damaging Het
Ccne1 A G 7: 37,798,744 (GRCm39) F292L probably damaging Het
Ccz1 A T 5: 143,949,628 (GRCm39) M100K probably damaging Het
Cep128 T C 12: 91,226,936 (GRCm39) T678A probably benign Het
Cep290 G A 10: 100,330,773 (GRCm39) R151Q probably benign Het
Crip3 A G 17: 46,741,673 (GRCm39) probably benign Het
Ddx60 A G 8: 62,474,348 (GRCm39) M1479V possibly damaging Het
Defb40 T A 8: 19,025,093 (GRCm39) I38F probably benign Het
Dnajb2 C T 1: 75,220,198 (GRCm39) T221I possibly damaging Het
Dpysl3 T C 18: 43,467,079 (GRCm39) I279V probably damaging Het
Echs1 G A 7: 139,692,499 (GRCm39) probably benign Het
Efl1 T A 7: 82,320,835 (GRCm39) N89K probably damaging Het
Extl3 T C 14: 65,313,443 (GRCm39) T580A probably benign Het
Fam171a2 C T 11: 102,330,982 (GRCm39) G193E probably damaging Het
Fam234a A T 17: 26,435,591 (GRCm39) D264E probably benign Het
Fbxw20 A T 9: 109,063,763 (GRCm39) V3D possibly damaging Het
Fig4 G A 10: 41,109,586 (GRCm39) P637L probably benign Het
Fnbp1l G A 3: 122,339,964 (GRCm39) T496I probably benign Het
Fry T C 5: 150,325,108 (GRCm39) V1175A possibly damaging Het
Gm5617 C T 9: 48,406,968 (GRCm39) A34V possibly damaging Het
Gnai1 A T 5: 18,496,596 (GRCm39) V109E probably benign Het
H2-K2 A T 17: 34,216,298 (GRCm39) Y283N probably benign Het
Hectd2 A T 19: 36,582,682 (GRCm39) I471F probably damaging Het
Hsdl2 T C 4: 59,612,812 (GRCm39) probably null Het
Igkv3-1 T C 6: 70,681,028 (GRCm39) S76P probably damaging Het
Krt15 A T 11: 100,022,897 (GRCm39) S439R probably benign Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Lima1 G A 15: 99,717,457 (GRCm39) T23I probably benign Het
Map4k1 C A 7: 28,688,195 (GRCm39) H248Q probably damaging Het
Mcf2l C A 8: 13,063,972 (GRCm39) T1004K probably damaging Het
Meak7 T G 8: 120,499,262 (GRCm39) T77P probably benign Het
Micall1 T A 15: 79,007,146 (GRCm39) probably benign Het
Ms4a14 A G 19: 11,278,976 (GRCm39) I1194T probably benign Het
Mtor T C 4: 148,539,273 (GRCm39) *257Q probably null Het
Mucl3 G A 17: 35,948,468 (GRCm39) T377I possibly damaging Het
Ncan T A 8: 70,556,705 (GRCm39) T961S probably benign Het
Odad4 A G 11: 100,441,147 (GRCm39) N126S probably damaging Het
Or10z1 A T 1: 174,078,262 (GRCm39) I77N probably damaging Het
Or1e29 T A 11: 73,667,372 (GRCm39) L260F probably benign Het
Or1f19 T C 16: 3,410,706 (GRCm39) S149P probably damaging Het
Or2t49 T A 11: 58,392,735 (GRCm39) I216F probably damaging Het
Or8h10 T G 2: 86,808,693 (GRCm39) Y149S probably damaging Het
Or9e1 T A 11: 58,732,033 (GRCm39) L31H possibly damaging Het
Pcdhgb2 A G 18: 37,825,153 (GRCm39) R715G probably benign Het
Pik3c3 T C 18: 30,477,131 (GRCm39) probably null Het
Pkhd1l1 A T 15: 44,354,497 (GRCm39) D296V probably damaging Het
Psg18 A T 7: 18,087,409 (GRCm39) L83Q possibly damaging Het
Rps6kc1 A G 1: 190,532,515 (GRCm39) W496R probably damaging Het
Setd5 C T 6: 113,126,527 (GRCm39) T1188I probably damaging Het
Slc4a3 T C 1: 75,531,729 (GRCm39) F899L probably damaging Het
Slitrk6 T C 14: 110,989,315 (GRCm39) T131A probably damaging Het
Speg G T 1: 75,398,379 (GRCm39) R1942L probably damaging Het
Sulf2 C A 2: 165,923,524 (GRCm39) R565L probably benign Het
Tcerg1 T C 18: 42,657,046 (GRCm39) M176T unknown Het
Tfcp2l1 T C 1: 118,597,239 (GRCm39) I440T possibly damaging Het
Tgm7 A T 2: 120,929,445 (GRCm39) probably null Het
Tjp2 C A 19: 24,099,484 (GRCm39) G433V probably damaging Het
Tmc7 C T 7: 118,142,565 (GRCm39) G608R probably damaging Het
Tmed4 A G 11: 6,224,456 (GRCm39) F68S possibly damaging Het
Tmem30b G A 12: 73,592,686 (GRCm39) P143L probably damaging Het
Tnfrsf23 C T 7: 143,235,217 (GRCm39) C49Y probably damaging Het
Tnni3k A T 3: 154,492,445 (GRCm39) probably null Het
Trav12-2 G T 14: 53,854,150 (GRCm39) M41I probably benign Het
Trim6 T A 7: 103,881,692 (GRCm39) Y314* probably null Het
Utp25 A G 1: 192,796,072 (GRCm39) Y686H probably damaging Het
Vmn2r118 A G 17: 55,899,894 (GRCm39) V670A probably damaging Het
Zfp438 A T 18: 5,213,154 (GRCm39) D601E probably benign Het
Zfp606 T A 7: 12,226,983 (GRCm39) I310N possibly damaging Het
Other mutations in Plekhh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Plekhh2 APN 17 84,829,203 (GRCm39) missense probably benign 0.00
IGL00514:Plekhh2 APN 17 84,903,734 (GRCm39) critical splice donor site probably null
IGL00773:Plekhh2 APN 17 84,914,296 (GRCm39) missense probably benign 0.01
IGL00985:Plekhh2 APN 17 84,871,356 (GRCm39) missense probably benign 0.00
IGL01116:Plekhh2 APN 17 84,914,356 (GRCm39) missense possibly damaging 0.94
IGL01394:Plekhh2 APN 17 84,864,858 (GRCm39) missense probably benign 0.24
IGL01419:Plekhh2 APN 17 84,890,980 (GRCm39) splice site probably benign
IGL01932:Plekhh2 APN 17 84,884,689 (GRCm39) missense probably benign 0.00
IGL02097:Plekhh2 APN 17 84,906,608 (GRCm39) missense possibly damaging 0.69
IGL02157:Plekhh2 APN 17 84,874,370 (GRCm39) splice site probably benign
IGL02163:Plekhh2 APN 17 84,898,223 (GRCm39) missense probably benign 0.45
IGL02237:Plekhh2 APN 17 84,883,213 (GRCm39) missense probably benign 0.00
IGL02322:Plekhh2 APN 17 84,896,894 (GRCm39) nonsense probably null
IGL02422:Plekhh2 APN 17 84,871,237 (GRCm39) splice site probably benign
IGL02483:Plekhh2 APN 17 84,903,688 (GRCm39) missense possibly damaging 0.81
IGL02493:Plekhh2 APN 17 84,914,391 (GRCm39) critical splice donor site probably null
IGL03007:Plekhh2 APN 17 84,882,388 (GRCm39) missense possibly damaging 0.65
R0003:Plekhh2 UTSW 17 84,864,820 (GRCm39) missense probably damaging 1.00
R0005:Plekhh2 UTSW 17 84,893,861 (GRCm39) missense probably benign 0.16
R0099:Plekhh2 UTSW 17 84,899,100 (GRCm39) nonsense probably null
R0331:Plekhh2 UTSW 17 84,893,794 (GRCm39) missense possibly damaging 0.81
R0883:Plekhh2 UTSW 17 84,925,459 (GRCm39) missense probably benign 0.11
R1051:Plekhh2 UTSW 17 84,829,255 (GRCm39) critical splice donor site probably null
R1084:Plekhh2 UTSW 17 84,878,554 (GRCm39) missense probably damaging 0.99
R1351:Plekhh2 UTSW 17 84,884,574 (GRCm39) splice site probably benign
R1459:Plekhh2 UTSW 17 84,918,203 (GRCm39) nonsense probably null
R1469:Plekhh2 UTSW 17 84,883,199 (GRCm39) missense probably benign 0.03
R1469:Plekhh2 UTSW 17 84,883,199 (GRCm39) missense probably benign 0.03
R1510:Plekhh2 UTSW 17 84,867,004 (GRCm39) splice site probably null
R1699:Plekhh2 UTSW 17 84,884,612 (GRCm39) nonsense probably null
R1738:Plekhh2 UTSW 17 84,874,125 (GRCm39) missense possibly damaging 0.67
R1773:Plekhh2 UTSW 17 84,906,693 (GRCm39) missense probably damaging 1.00
R1796:Plekhh2 UTSW 17 84,906,561 (GRCm39) critical splice acceptor site probably null
R1823:Plekhh2 UTSW 17 84,882,617 (GRCm39) missense probably damaging 1.00
R1998:Plekhh2 UTSW 17 84,914,305 (GRCm39) missense possibly damaging 0.58
R2437:Plekhh2 UTSW 17 84,893,907 (GRCm39) splice site probably null
R2847:Plekhh2 UTSW 17 84,905,394 (GRCm39) missense probably damaging 1.00
R4088:Plekhh2 UTSW 17 84,925,427 (GRCm39) missense probably benign 0.10
R4227:Plekhh2 UTSW 17 84,874,223 (GRCm39) missense probably benign 0.00
R4249:Plekhh2 UTSW 17 84,893,765 (GRCm39) missense possibly damaging 0.93
R4347:Plekhh2 UTSW 17 84,927,130 (GRCm39) missense probably benign 0.12
R4562:Plekhh2 UTSW 17 84,873,525 (GRCm39) missense probably benign 0.00
R4649:Plekhh2 UTSW 17 84,882,691 (GRCm39) missense probably damaging 1.00
R4737:Plekhh2 UTSW 17 84,871,387 (GRCm39) missense probably benign
R4743:Plekhh2 UTSW 17 84,878,548 (GRCm39) missense probably damaging 1.00
R5036:Plekhh2 UTSW 17 84,879,189 (GRCm39) missense probably damaging 0.99
R5260:Plekhh2 UTSW 17 84,884,593 (GRCm39) missense probably damaging 0.99
R5385:Plekhh2 UTSW 17 84,864,894 (GRCm39) missense probably benign 0.00
R5409:Plekhh2 UTSW 17 84,893,906 (GRCm39) critical splice donor site probably null
R5510:Plekhh2 UTSW 17 84,874,275 (GRCm39) missense probably benign
R5557:Plekhh2 UTSW 17 84,867,580 (GRCm39) missense probably benign 0.10
R5684:Plekhh2 UTSW 17 84,905,346 (GRCm39) missense probably damaging 1.00
R5685:Plekhh2 UTSW 17 84,877,310 (GRCm39) missense probably damaging 1.00
R5724:Plekhh2 UTSW 17 84,874,233 (GRCm39) missense probably benign 0.00
R5742:Plekhh2 UTSW 17 84,905,408 (GRCm39) missense probably damaging 1.00
R5817:Plekhh2 UTSW 17 84,879,154 (GRCm39) missense possibly damaging 0.86
R6218:Plekhh2 UTSW 17 84,898,992 (GRCm39) missense probably benign 0.03
R6334:Plekhh2 UTSW 17 84,874,294 (GRCm39) missense probably benign
R6345:Plekhh2 UTSW 17 84,883,215 (GRCm39) missense probably benign 0.01
R6617:Plekhh2 UTSW 17 84,873,715 (GRCm39) missense possibly damaging 0.65
R6755:Plekhh2 UTSW 17 84,899,013 (GRCm39) missense probably damaging 1.00
R6864:Plekhh2 UTSW 17 84,925,427 (GRCm39) missense probably benign 0.10
R7171:Plekhh2 UTSW 17 84,829,216 (GRCm39) missense probably damaging 0.96
R7413:Plekhh2 UTSW 17 84,873,724 (GRCm39) missense probably benign 0.03
R7585:Plekhh2 UTSW 17 84,884,608 (GRCm39) missense probably benign 0.11
R7640:Plekhh2 UTSW 17 84,918,204 (GRCm39) missense possibly damaging 0.50
R7733:Plekhh2 UTSW 17 84,890,952 (GRCm39) nonsense probably null
R7877:Plekhh2 UTSW 17 84,882,434 (GRCm39) missense probably benign
R8085:Plekhh2 UTSW 17 84,905,384 (GRCm39) missense probably damaging 0.98
R8206:Plekhh2 UTSW 17 84,898,277 (GRCm39) missense possibly damaging 0.47
R8296:Plekhh2 UTSW 17 84,908,113 (GRCm39) missense probably damaging 0.98
R8344:Plekhh2 UTSW 17 84,879,189 (GRCm39) missense possibly damaging 0.64
R8438:Plekhh2 UTSW 17 84,877,379 (GRCm39) missense probably benign
R8487:Plekhh2 UTSW 17 84,864,909 (GRCm39) missense possibly damaging 0.55
R8708:Plekhh2 UTSW 17 84,882,421 (GRCm39) missense probably benign 0.00
R8830:Plekhh2 UTSW 17 84,829,231 (GRCm39) missense probably damaging 1.00
R8847:Plekhh2 UTSW 17 84,878,479 (GRCm39) missense probably benign 0.00
R8918:Plekhh2 UTSW 17 84,906,621 (GRCm39) missense possibly damaging 0.80
R9047:Plekhh2 UTSW 17 84,898,190 (GRCm39) missense probably damaging 0.99
R9404:Plekhh2 UTSW 17 84,878,468 (GRCm39) critical splice acceptor site probably null
R9428:Plekhh2 UTSW 17 84,873,841 (GRCm39) missense probably benign
R9516:Plekhh2 UTSW 17 84,918,240 (GRCm39) missense probably benign 0.00
R9559:Plekhh2 UTSW 17 84,899,017 (GRCm39) missense probably damaging 1.00
R9589:Plekhh2 UTSW 17 84,854,918 (GRCm39) missense possibly damaging 0.90
R9641:Plekhh2 UTSW 17 84,874,130 (GRCm39) missense probably damaging 1.00
R9659:Plekhh2 UTSW 17 84,854,892 (GRCm39) missense possibly damaging 0.95
R9788:Plekhh2 UTSW 17 84,854,892 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- CGAAGCTAAAACTGACAATGCTGG -3'
(R):5'- CTCATGTGGTAGTTTCACCCAG -3'

Sequencing Primer
(F):5'- CTGGAAGCTAAAACTGACAATGCTG -3'
(R):5'- TGTGGTAGTTTCACCCAGAATAGAG -3'
Posted On 2016-03-01