Incidental Mutation 'R4649:Plekhh2'
ID 350646
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 041910-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R4649 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 84819323-84929566 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84882691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 733 (Y733H)
Ref Sequence ENSEMBL: ENSMUSP00000039628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047206]
AlphaFold Q8C115
Predicted Effect probably damaging
Transcript: ENSMUST00000047206
AA Change: Y733H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: Y733H

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Abca4 G T 3: 121,963,542 (GRCm39) V841F probably damaging Het
Adcy10 G A 1: 165,331,618 (GRCm39) E84K probably damaging Het
Adgrg6 C A 10: 14,344,571 (GRCm39) M127I probably damaging Het
Agpat5 A G 8: 18,929,668 (GRCm39) I266V possibly damaging Het
Agtpbp1 A T 13: 59,676,213 (GRCm39) Y186N possibly damaging Het
Alx1 A T 10: 102,845,193 (GRCm39) N279K probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Arsi A G 18: 61,050,170 (GRCm39) Y351C probably damaging Het
B4galnt3 T A 6: 120,201,581 (GRCm39) R155W probably damaging Het
BC028528 T C 3: 95,795,577 (GRCm39) E75G probably damaging Het
Bmp2k C T 5: 97,200,970 (GRCm39) P297S possibly damaging Het
Btnl4 A G 17: 34,691,602 (GRCm39) S296P probably benign Het
Bzw2 A T 12: 36,173,980 (GRCm39) V98E probably null Het
Cacna1d C T 14: 29,817,365 (GRCm39) M1232I probably benign Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Catsperb G A 12: 101,507,771 (GRCm39) A513T probably benign Het
Cd19 A G 7: 126,013,664 (GRCm39) S42P probably benign Het
Chml A G 1: 175,514,962 (GRCm39) S138P probably benign Het
Clic6 T G 16: 92,327,827 (GRCm39) probably null Het
Col12a1 A T 9: 79,547,076 (GRCm39) V2252E probably damaging Het
Cplx2 G A 13: 54,527,361 (GRCm39) E82K probably benign Het
Csmd2 G A 4: 128,439,866 (GRCm39) V3107M probably benign Het
Cspg4 T A 9: 56,794,149 (GRCm39) V628D possibly damaging Het
Dcaf13 G A 15: 39,001,637 (GRCm39) R315Q possibly damaging Het
Deaf1 A G 7: 140,877,486 (GRCm39) V547A possibly damaging Het
Dmxl1 C T 18: 50,011,698 (GRCm39) T1285I probably damaging Het
Dnah3 C A 7: 119,646,921 (GRCm39) W1036L probably damaging Het
Dnai3 A G 3: 145,753,922 (GRCm39) S713P probably damaging Het
Dpy19l1 A C 9: 24,393,350 (GRCm39) S140A possibly damaging Het
Dsg2 T A 18: 20,735,302 (GRCm39) D1093E possibly damaging Het
Edaradd T A 13: 12,523,304 (GRCm39) H12L probably damaging Het
Enam T C 5: 88,640,827 (GRCm39) M163T probably benign Het
Fbxo22 T A 9: 55,128,333 (GRCm39) V218E probably damaging Het
Fbxo34 A T 14: 47,767,085 (GRCm39) K148N probably damaging Het
Foxi3 A G 6: 70,933,960 (GRCm39) D149G probably damaging Het
Gbp8 C T 5: 105,189,807 (GRCm39) G75D probably damaging Het
Gm10784 C T 13: 50,099,251 (GRCm39) noncoding transcript Het
Gm7247 G A 14: 51,807,051 (GRCm39) probably null Het
Grik3 T A 4: 125,544,278 (GRCm39) V333E probably damaging Het
Gsap A T 5: 21,431,309 (GRCm39) D211V probably damaging Het
H2-T15 T C 17: 36,368,768 (GRCm39) Y104C possibly damaging Het
Ino80 T C 2: 119,261,489 (GRCm39) N725S probably damaging Het
Itgad A G 7: 127,788,703 (GRCm39) I443V probably benign Het
Itsn1 T A 16: 91,638,476 (GRCm39) I52N probably damaging Het
Kmt2b TCTCCTCCTCCTCCTCCTCCTCCTCC TCTCCTCCTCCTCCTCCTCCTCC 7: 30,285,783 (GRCm39) probably benign Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Lrrk1 T C 7: 65,922,801 (GRCm39) I1366V probably benign Het
Lyn C A 4: 3,738,850 (GRCm39) Q41K probably benign Het
Mapk13 C T 17: 28,997,461 (GRCm39) R360* probably null Het
Mapk8ip3 T A 17: 25,123,726 (GRCm39) I599F probably damaging Het
Me1 T C 9: 86,561,905 (GRCm39) K60R probably benign Het
Mga T A 2: 119,771,974 (GRCm39) D1532E possibly damaging Het
Miga1 G A 3: 151,984,642 (GRCm39) S427L probably benign Het
Mknk2 A T 10: 80,505,173 (GRCm39) V186E probably damaging Het
Myo1a C A 10: 127,546,086 (GRCm39) N236K probably benign Het
Myt1 A G 2: 181,439,207 (GRCm39) D243G probably benign Het
Ncf4 T C 15: 78,140,189 (GRCm39) V196A possibly damaging Het
Nlrp5 G T 7: 23,117,603 (GRCm39) L442F probably damaging Het
Olfm4 G A 14: 80,258,747 (GRCm39) D332N probably benign Het
Or4a81 C A 2: 89,619,637 (GRCm39) V20F probably benign Het
Or4b1d T A 2: 89,969,432 (GRCm39) D17V probably damaging Het
Osbpl11 T A 16: 33,016,452 (GRCm39) M69K probably benign Het
Oxnad1 T A 14: 31,824,366 (GRCm39) *312K probably null Het
Plekhg1 A G 10: 3,906,985 (GRCm39) Q634R probably benign Het
Ppp1r21 A G 17: 88,856,941 (GRCm39) H132R probably benign Het
Prkcq T C 2: 11,284,333 (GRCm39) V501A possibly damaging Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
Pudp T C 18: 50,701,259 (GRCm39) D158G probably damaging Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Ranbp3 T A 17: 57,003,640 (GRCm39) probably null Het
Ranbp6 A G 19: 29,787,721 (GRCm39) V877A probably benign Het
Rgsl1 A T 1: 153,693,328 (GRCm39) S618T probably benign Het
Rhox2a A T X: 36,509,015 (GRCm39) I61L probably benign Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rnf207 A C 4: 152,396,612 (GRCm39) D466E probably benign Het
Rnf7 A G 9: 96,353,883 (GRCm39) I80T probably benign Het
Ros1 T A 10: 52,005,764 (GRCm39) I878F possibly damaging Het
Rsbn1 T A 3: 103,861,096 (GRCm39) probably null Het
Sbk1 T C 7: 125,890,301 (GRCm39) S105P probably damaging Het
Sdk1 T C 5: 141,992,380 (GRCm39) Y790H probably damaging Het
Sec62 T A 3: 30,864,683 (GRCm39) N182K unknown Het
Slc15a1 T C 14: 121,715,504 (GRCm39) Y345C probably damaging Het
Slc27a1 G A 8: 72,023,408 (GRCm39) A15T probably benign Het
Slc35d1 A G 4: 103,070,426 (GRCm39) F110L probably damaging Het
Slc39a5 T A 10: 128,233,136 (GRCm39) S333C probably benign Het
Tarbp1 A G 8: 127,173,934 (GRCm39) S927P probably damaging Het
Tns1 A G 1: 73,992,930 (GRCm39) S583P probably damaging Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Trim40 T C 17: 37,193,531 (GRCm39) probably null Het
Trim42 C A 9: 97,244,998 (GRCm39) V601L probably benign Het
Trpc7 G A 13: 57,035,367 (GRCm39) R189C probably damaging Het
Ttc29 A T 8: 79,060,208 (GRCm39) Y376F probably benign Het
Vmn2r63 A G 7: 42,553,114 (GRCm39) I714T possibly damaging Het
Vmn2r68 C A 7: 84,870,743 (GRCm39) A847S probably benign Het
Zbp1 G A 2: 173,049,608 (GRCm39) P385S possibly damaging Het
Zfat A G 15: 68,056,325 (GRCm39) Y237H probably damaging Het
Zfp236 A T 18: 82,615,784 (GRCm39) W1840R probably damaging Het
Zfp426 G T 9: 20,381,923 (GRCm39) Q341K possibly damaging Het
Zfp462 T A 4: 55,009,349 (GRCm39) N438K probably benign Het
Zfp952 T A 17: 33,221,899 (GRCm39) V88E probably damaging Het
Znfx1 G T 2: 166,898,276 (GRCm39) A216D 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
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
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
Predicted Primers PCR Primer
(F):5'- GTAAACGAGCAATCAGACTCTG -3'
(R):5'- CACATCGCTCTGTGCAAAAGG -3'

Sequencing Primer
(F):5'- GTTTGACTTGCCAGAAGT -3'
(R):5'- AAAGCCCAGTTGTGAGTC -3'
Posted On 2015-10-08