Incidental Mutation 'R7413:Plekhh2'
ID 575246
Institutional Source Beutler Lab
Gene Symbol Plekhh2
Ensembl Gene ENSMUSG00000040852
Gene Name pleckstrin homology domain containing, family H (with MyTH4 domain) member 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R7413 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 84819323-84929566 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84873724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 336 (E336D)
Ref Sequence ENSEMBL: ENSMUSP00000039628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047206]
AlphaFold Q8C115
Predicted Effect probably benign
Transcript: ENSMUST00000047206
AA Change: E336D

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: E336D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,895,524 (GRCm39) probably null Het
Agbl4 A T 4: 111,514,495 (GRCm39) D502V probably benign Het
Akap5 T A 12: 76,375,678 (GRCm39) V370E possibly damaging Het
Alms1 T C 6: 85,605,288 (GRCm39) C1844R probably benign Het
Apaf1 T C 10: 90,831,542 (GRCm39) K1191E probably benign Het
Bsn C T 9: 108,016,690 (GRCm39) R107Q possibly damaging Het
Catsperb G T 12: 101,447,307 (GRCm39) R269L probably damaging Het
Ccer1 T C 10: 97,529,804 (GRCm39) S156P unknown Het
Cdh16 C T 8: 105,346,572 (GRCm39) A241T probably benign Het
Cdk5rap2 A G 4: 70,172,972 (GRCm39) S1367P probably damaging Het
Cds2 C T 2: 132,135,235 (GRCm39) P42L probably benign Het
Col15a1 T C 4: 47,245,431 (GRCm39) Y61H possibly damaging Het
Dclre1a G A 19: 56,531,082 (GRCm39) P755S probably damaging Het
Ddi1 A T 9: 6,265,670 (GRCm39) M233K probably damaging Het
Dpp4 T C 2: 62,187,333 (GRCm39) Y474C probably damaging Het
Epha7 T A 4: 28,871,838 (GRCm39) M389K probably benign Het
Ephb3 T C 16: 21,033,457 (GRCm39) F181S probably damaging Het
Epor G A 9: 21,874,776 (GRCm39) probably benign Het
Fbp2 C A 13: 62,985,067 (GRCm39) V285L probably benign Het
Flnc A T 6: 29,452,258 (GRCm39) D1694V probably damaging Het
Ganab T A 19: 8,882,339 (GRCm39) M98K probably benign Het
Gcm2 A G 13: 41,259,230 (GRCm39) S80P probably damaging Het
Gls A G 1: 52,254,735 (GRCm39) S247P probably benign Het
Gne T C 4: 44,044,857 (GRCm39) N426D probably benign Het
Ifne A T 4: 88,797,840 (GRCm39) *193R probably null Het
Igf2r G T 17: 12,917,115 (GRCm39) S1595* probably null Het
Krt26 C T 11: 99,225,887 (GRCm39) M226I probably benign Het
Lars2 G A 9: 123,288,568 (GRCm39) V805I probably benign Het
Lrrc57 C A 2: 120,436,577 (GRCm39) R177L probably damaging Het
Lrrn1 A G 6: 107,546,083 (GRCm39) E627G probably benign Het
Magel2 CCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCTCCTCCT 7: 62,027,592 (GRCm39) probably benign Het
Mdga1 A T 17: 30,069,647 (GRCm39) V133E probably damaging Het
Med12l A G 3: 58,998,971 (GRCm39) T644A probably benign Het
Meis1 T A 11: 18,938,357 (GRCm39) D218V probably damaging Het
Myo15b A G 11: 115,768,970 (GRCm39) E1439G Het
Naa12 T C 18: 80,254,874 (GRCm39) V56A possibly damaging Het
Nckipsd G A 9: 108,691,280 (GRCm39) V401I probably benign Het
Nrg3 T C 14: 38,092,669 (GRCm39) I655V probably damaging Het
Oprm1 A T 10: 6,778,919 (GRCm39) I107F probably damaging Het
Or4k42 A C 2: 111,319,933 (GRCm39) I190R probably benign Het
Or52n3 A T 7: 104,530,057 (GRCm39) I48F probably benign Het
Or5p51 T C 7: 107,444,721 (GRCm39) D73G probably damaging Het
Osbpl7 T C 11: 96,945,704 (GRCm39) probably null Het
Pcdh18 T G 3: 49,699,232 (GRCm39) S1077R possibly damaging Het
Pcdhb16 A T 18: 37,611,975 (GRCm39) K312* probably null Het
Ptprd A T 4: 76,165,076 (GRCm39) S49T probably benign Het
Pxdn A G 12: 30,052,927 (GRCm39) I1035V probably benign Het
Rlf C T 4: 121,007,297 (GRCm39) G671D probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,128 (GRCm39) probably benign Het
Selenbp2 A G 3: 94,607,404 (GRCm39) Q275R probably benign Het
Slc10a1 G T 12: 81,007,396 (GRCm39) F128L probably benign Het
Slitrk1 A T 14: 109,149,357 (GRCm39) Y451* probably null Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Stambpl1 G C 19: 34,204,116 (GRCm39) G69R probably damaging Het
Surf4 G T 2: 26,814,455 (GRCm39) R149S probably benign Het
Tmem151a T C 19: 5,132,702 (GRCm39) Y168C probably damaging Het
Ttc39c A G 18: 12,861,746 (GRCm39) K416R possibly damaging Het
Tut4 T C 4: 108,406,533 (GRCm39) I1367T possibly damaging Het
Vit T C 17: 78,932,309 (GRCm39) I472T probably damaging Het
Vmn1r212 A C 13: 23,067,718 (GRCm39) L205R probably damaging Het
Wscd2 T C 5: 113,715,402 (GRCm39) I414T probably benign Het
Zfp1005 A C 2: 150,108,081 (GRCm39) T14P 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
R4858:Plekhh2 UTSW 17 84,908,125 (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
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'- GTGAGTGACTGGAGTTCAGAC -3'
(R):5'- GTACCTGGGAGTTAAAGCTGG -3'

Sequencing Primer
(F):5'- CTGGAGTTCAGACGAGGATG -3'
(R):5'- CTCGCTGGATGAGGATGTATAATC -3'
Posted On 2019-10-07