Incidental Mutation 'R8847:Plekhh2'
ID 674789
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 068735-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R8847 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 84819323-84929566 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84878479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 578 (D578G)
Ref Sequence ENSEMBL: ENSMUSP00000039628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047206]
AlphaFold Q8C115
Predicted Effect probably benign
Transcript: ENSMUST00000047206
AA Change: D578G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: D578G

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: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G C 8: 41,206,746 (GRCm39) R4T probably benign Het
Alk T A 17: 72,256,820 (GRCm39) I680F probably benign Het
Best3 A G 10: 116,824,572 (GRCm39) T13A possibly damaging Het
Ccdc7b A G 8: 129,872,082 (GRCm39) D59G Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Cic G A 7: 24,970,631 (GRCm39) V121M probably damaging Het
Clasp1 C G 1: 118,506,705 (GRCm39) P1280R probably damaging Het
Col6a5 A T 9: 105,741,472 (GRCm39) N2482K possibly damaging Het
Crebbp A G 16: 3,902,891 (GRCm39) M2116T probably benign Het
Ddn T C 15: 98,704,794 (GRCm39) E166G possibly damaging Het
Dennd6a C T 14: 26,327,086 (GRCm39) T249I probably benign Het
Diaph1 A T 18: 37,987,590 (GRCm39) D1055E possibly damaging Het
Dnajc13 C A 9: 104,057,360 (GRCm39) G1547* probably null Het
Dvl1 C T 4: 155,942,611 (GRCm39) R626C possibly damaging Het
Fer1l6 A C 15: 58,414,012 (GRCm39) K13Q possibly damaging Het
Fry G A 5: 150,309,472 (GRCm39) E639K Het
Gm6408 G T 5: 146,420,602 (GRCm39) V161L probably benign Het
Gpatch8 A T 11: 102,372,010 (GRCm39) N509K unknown Het
Hycc2 G T 1: 58,595,713 (GRCm39) P55Q probably damaging Het
Ints13 T C 6: 146,457,631 (GRCm39) T416A probably benign Het
Iqcf6 A T 9: 106,504,650 (GRCm39) M105L probably damaging Het
Magi3 C A 3: 103,922,334 (GRCm39) R1461L probably benign Het
Map3k8 A T 18: 4,333,889 (GRCm39) L401Q Het
Miga2 G T 2: 30,273,990 (GRCm39) R542L probably damaging Het
Mphosph9 A T 5: 124,454,209 (GRCm39) V96E possibly damaging Het
Nek5 T C 8: 22,613,595 (GRCm39) S28G probably benign Het
Niban1 A G 1: 151,575,929 (GRCm39) E351G probably damaging Het
Notch4 A G 17: 34,803,962 (GRCm39) probably benign Het
Npc1 A G 18: 12,323,987 (GRCm39) L1275P probably damaging Het
Nphp4 C T 4: 152,590,863 (GRCm39) R287C probably damaging Het
Or10ak11 T C 4: 118,686,821 (GRCm39) D271G probably damaging Het
Or13a20 G C 7: 140,232,326 (GRCm39) A145P possibly damaging Het
Or1j13 G A 2: 36,369,483 (GRCm39) R220* probably null Het
Or1p1c C T 11: 74,160,443 (GRCm39) T76I probably damaging Het
Parn A T 16: 13,446,270 (GRCm39) L343* probably null Het
Pax5 T A 4: 44,691,865 (GRCm39) D127V probably benign Het
Peak1 C A 9: 56,114,427 (GRCm39) D1505Y probably damaging Het
Perm1 C T 4: 156,302,068 (GRCm39) T204I probably benign Het
Pid1 A T 1: 84,093,694 (GRCm39) S65T unknown Het
Pkn2 A G 3: 142,526,401 (GRCm39) V392A probably benign Het
Ppp4r4 T A 12: 103,562,747 (GRCm39) L572Q probably damaging Het
Pum3 G A 19: 27,398,713 (GRCm39) T279M probably damaging Het
Rasa2 A G 9: 96,458,402 (GRCm39) V266A possibly damaging Het
Sirpb1c C T 3: 15,886,584 (GRCm39) W264* probably null Het
Slc35g3 A T 11: 69,651,399 (GRCm39) Y195* probably null Het
Slk T A 19: 47,607,632 (GRCm39) H289Q Het
Spef2 T C 15: 9,668,913 (GRCm39) S758G probably benign Het
Spon2 C T 5: 33,371,841 (GRCm39) A322T probably benign Het
Spred2 T C 11: 19,951,064 (GRCm39) L87P probably benign Het
Stk10 A G 11: 32,539,427 (GRCm39) D269G Het
Tex48 T A 4: 63,530,772 (GRCm39) probably benign Het
Themis2 T A 4: 132,513,509 (GRCm39) H239L probably damaging Het
Tle4 T A 19: 14,493,737 (GRCm39) R199* probably null Het
Tlr11 C T 14: 50,600,182 (GRCm39) H723Y possibly damaging Het
Trdj2 T A 14: 54,374,237 (GRCm39) S1T Het
Vdac1 T G 11: 52,267,230 (GRCm39) S44A Het
Vill C T 9: 118,897,514 (GRCm39) T647I probably damaging Het
Vmn1r61 A G 7: 5,613,817 (GRCm39) C166R probably damaging Het
Vmn2r114 T A 17: 23,528,986 (GRCm39) N372I probably damaging Het
Vmn2r120 T A 17: 57,816,217 (GRCm39) M713L probably benign Het
Vmn2r61 T C 7: 41,950,010 (GRCm39) V810A probably damaging Het
Vmn2r65 A T 7: 84,590,212 (GRCm39) L568Q probably damaging Het
Wdr7 T C 18: 63,872,293 (GRCm39) V409A probably damaging Het
Ylpm1 C A 12: 85,061,672 (GRCm39) N524K unknown Het
Zfp958 A C 8: 4,678,434 (GRCm39) H153P probably 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
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
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'- GACAAGGGCATTTTATCTGTTTTAAGC -3'
(R):5'- ATAATCACCTTCTCCGGGCC -3'

Sequencing Primer
(F):5'- GGATATGCTGCCTCTAATGCCAG -3'
(R):5'- CTCTACAAAGAGGGGGATGGATG -3'
Posted On 2021-07-15