Incidental Mutation 'IGL01419:Plekhh2'
ID 80362
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01419
Quality Score
Status
Chromosome 17
Chromosomal Location 84819323-84929566 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 84890980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047206]
AlphaFold Q8C115
Predicted Effect probably benign
Transcript: ENSMUST00000047206
SMART Domains Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A T 2: 25,327,526 (GRCm39) T672S probably damaging Het
Adamts14 A T 10: 61,041,321 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,705,277 (GRCm39) E791G probably damaging Het
Alkbh8 A G 9: 3,385,354 (GRCm39) R584G probably damaging Het
Apob A T 12: 8,052,251 (GRCm39) I1218F probably damaging Het
Atp5f1a T C 18: 77,865,233 (GRCm39) S52P probably damaging Het
B4galnt3 A G 6: 120,192,351 (GRCm39) S462P possibly damaging Het
Bdkrb1 A G 12: 105,571,040 (GRCm39) H202R possibly damaging Het
Bltp1 T C 3: 37,102,270 (GRCm39) S1323P probably damaging Het
Cd300lf T C 11: 115,017,180 (GRCm39) K48E probably benign Het
Cfhr4 T C 1: 139,667,382 (GRCm39) probably null Het
Chuk A T 19: 44,085,420 (GRCm39) I242K probably damaging Het
Csde1 A G 3: 102,946,086 (GRCm39) T27A probably damaging Het
D930048N14Rik C T 11: 51,545,603 (GRCm39) probably benign Het
Depdc7 A T 2: 104,552,455 (GRCm39) Y451N possibly damaging Het
Diaph3 C A 14: 87,202,989 (GRCm39) G623* probably null Het
Dlc1 T C 8: 37,317,371 (GRCm39) T435A probably benign Het
Dock8 A G 19: 25,096,816 (GRCm39) S575G probably benign Het
Fbxw22 T A 9: 109,210,790 (GRCm39) Y407F probably benign Het
Fzd4 C A 7: 89,056,943 (GRCm39) A330E probably damaging Het
Gm17415 A G 1: 93,349,672 (GRCm39) probably benign Het
Gnat1 C T 9: 107,556,633 (GRCm39) probably null Het
Gtf3c4 T C 2: 28,725,081 (GRCm39) Y76C probably damaging Het
Heatr5b G A 17: 79,103,939 (GRCm39) H1079Y probably benign Het
Helz T G 11: 107,577,340 (GRCm39) I1897S unknown Het
Hspa12a T C 19: 58,816,681 (GRCm39) probably null Het
Kcne1 G T 16: 92,145,534 (GRCm39) F103L probably benign Het
Lrrc20 A T 10: 61,383,874 (GRCm39) S94C probably damaging Het
Lrrc8a A G 2: 30,147,111 (GRCm39) T642A probably benign Het
Ly6g5b A G 17: 35,333,494 (GRCm39) L106P probably benign Het
Lyst A G 13: 13,810,423 (GRCm39) S698G probably benign Het
Ndrg1 A G 15: 66,802,900 (GRCm39) V334A probably benign Het
Neb A T 2: 52,116,545 (GRCm39) Y964* probably null Het
Or4c123 T C 2: 89,126,689 (GRCm39) probably benign Het
Or8k3 A T 2: 86,058,973 (GRCm39) I114N possibly damaging Het
Parp10 A G 15: 76,125,588 (GRCm39) F497L probably damaging Het
Pdss1 A G 2: 22,825,589 (GRCm39) M343V possibly damaging Het
Phactr3 C T 2: 177,920,855 (GRCm39) T231I probably benign Het
Ppp1r12c A C 7: 4,489,351 (GRCm39) probably null Het
Prdm2 G T 4: 142,860,218 (GRCm39) P1024H probably damaging Het
Prkacb A T 3: 146,461,448 (GRCm39) M1K probably null Het
Prkdc C A 16: 15,653,030 (GRCm39) P3835Q probably damaging Het
Rps27a T C 11: 29,496,353 (GRCm39) T87A probably benign Het
Ryr2 T A 13: 11,814,723 (GRCm39) E683V possibly damaging Het
Sbk2 A G 7: 4,960,528 (GRCm39) L214P probably damaging Het
Sema4g A G 19: 44,985,835 (GRCm39) S250G probably benign Het
Slc27a6 T A 18: 58,742,281 (GRCm39) D498E probably benign Het
Tarbp1 T C 8: 127,154,894 (GRCm39) D1410G probably benign Het
Tas2r134 T A 2: 51,517,759 (GRCm39) Y79* probably null Het
Tie1 T C 4: 118,333,295 (GRCm39) D857G probably damaging Het
Tnk2 A G 16: 32,499,498 (GRCm39) N432S probably damaging Het
Tubg2 C A 11: 101,049,883 (GRCm39) D176E probably benign Het
Ugt2b34 A T 5: 87,039,264 (GRCm39) W466R probably damaging Het
Usp47 T A 7: 111,687,118 (GRCm39) M692K possibly damaging Het
Vmn2r106 T C 17: 20,499,807 (GRCm39) K143E probably benign Het
Vmn2r118 G A 17: 55,900,000 (GRCm39) L635F probably benign Het
Vmn2r16 C T 5: 109,510,267 (GRCm39) probably benign Het
Vmn2r76 A T 7: 85,874,910 (GRCm39) M689K probably benign Het
Xkr6 T C 14: 64,056,325 (GRCm39) Y79H probably benign Het
Zdhhc6 A G 19: 55,298,186 (GRCm39) F224L probably benign Het
Zfp493 T G 13: 67,934,921 (GRCm39) I291M probably benign 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
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
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
Posted On 2013-11-05