Incidental Mutation 'R5036:Plekhh2'
ID 389553
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 042627-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R5036 (G1)
Quality Score 171
Status Validated
Chromosome 17
Chromosomal Location 84511895-84622142 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84571761 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 638 (S638P)
Ref Sequence ENSEMBL: ENSMUSP00000039628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047206]
AlphaFold Q8C115
Predicted Effect probably damaging
Transcript: ENSMUST00000047206
AA Change: S638P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: S638P

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 0.0798 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik G A 7: 41,626,154 (GRCm38) G427D possibly damaging Het
Agbl5 G A 5: 30,903,059 (GRCm38) R141Q probably damaging Het
C4b T A 17: 34,740,445 (GRCm38) probably null Het
Cabyr A T 18: 12,751,246 (GRCm38) E263D probably damaging Het
Car1 A T 3: 14,776,239 (GRCm38) D45E possibly damaging Het
Col25a1 T C 3: 130,583,329 (GRCm38) probably null Het
Dnah6 G T 6: 73,044,691 (GRCm38) S3549R probably benign Het
Dync1h1 A T 12: 110,630,535 (GRCm38) I1639F probably damaging Het
Fhad1 A T 4: 141,920,741 (GRCm38) D271E probably benign Het
Gle1 T C 2: 29,936,211 (GRCm38) S101P probably benign Het
Gm4781 C A 10: 100,396,989 (GRCm38) noncoding transcript Het
Gpatch3 A G 4: 133,578,150 (GRCm38) Y232C probably damaging Het
Gtf2ird2 A G 5: 134,217,507 (GRCm38) N869S probably damaging Het
Ifi204 G A 1: 173,752,745 (GRCm38) P400S possibly damaging Het
Ighv2-2 T C 12: 113,588,472 (GRCm38) T49A possibly damaging Het
Itsn1 T A 16: 91,782,235 (GRCm38) probably benign Het
Mib2 A T 4: 155,656,288 (GRCm38) N626K probably damaging Het
Nf1 C A 11: 79,446,864 (GRCm38) Q1098K probably damaging Het
Odc1 C A 12: 17,548,019 (GRCm38) Q116K probably damaging Het
Otof C T 5: 30,384,439 (GRCm38) E761K possibly damaging Het
Palld A T 8: 61,550,162 (GRCm38) V301D probably damaging Het
Pask A T 1: 93,322,079 (GRCm38) L533* probably null Het
Scaf8 T A 17: 3,164,262 (GRCm38) probably benign Het
Sdccag8 G T 1: 177,011,975 (GRCm38) R695L probably damaging Het
Serpina1c A G 12: 103,898,826 (GRCm38) I187T probably damaging Het
Slitrk5 G T 14: 111,680,884 (GRCm38) G647W possibly damaging Het
Sycp1 T A 3: 102,820,600 (GRCm38) K899M probably damaging Het
Taok1 G A 11: 77,549,331 (GRCm38) R617C probably benign Het
Tbc1d32 A C 10: 56,195,404 (GRCm38) Y341* probably null Het
Tenm4 A G 7: 96,694,790 (GRCm38) N267D probably damaging Het
Tenm4 T C 7: 96,852,561 (GRCm38) V1287A probably damaging Het
Tsga10 A T 1: 37,783,968 (GRCm38) V488E possibly damaging Het
Ttc39c G T 18: 12,687,081 (GRCm38) probably null Het
Uck1 A T 2: 32,258,466 (GRCm38) probably benign Het
Vmn2r98 A G 17: 19,066,157 (GRCm38) I306V probably benign Het
Other mutations in Plekhh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Plekhh2 APN 17 84,521,775 (GRCm38) missense probably benign 0.00
IGL00514:Plekhh2 APN 17 84,596,306 (GRCm38) critical splice donor site probably null
IGL00773:Plekhh2 APN 17 84,606,868 (GRCm38) missense probably benign 0.01
IGL00985:Plekhh2 APN 17 84,563,928 (GRCm38) missense probably benign 0.00
IGL01116:Plekhh2 APN 17 84,606,928 (GRCm38) missense possibly damaging 0.94
IGL01394:Plekhh2 APN 17 84,557,430 (GRCm38) missense probably benign 0.24
IGL01419:Plekhh2 APN 17 84,583,552 (GRCm38) splice site probably benign
IGL01932:Plekhh2 APN 17 84,577,261 (GRCm38) missense probably benign 0.00
IGL02097:Plekhh2 APN 17 84,599,180 (GRCm38) missense possibly damaging 0.69
IGL02157:Plekhh2 APN 17 84,566,942 (GRCm38) splice site probably benign
IGL02163:Plekhh2 APN 17 84,590,795 (GRCm38) missense probably benign 0.45
IGL02237:Plekhh2 APN 17 84,575,785 (GRCm38) missense probably benign 0.00
IGL02322:Plekhh2 APN 17 84,589,466 (GRCm38) nonsense probably null
IGL02422:Plekhh2 APN 17 84,563,809 (GRCm38) splice site probably benign
IGL02483:Plekhh2 APN 17 84,596,260 (GRCm38) missense possibly damaging 0.81
IGL02493:Plekhh2 APN 17 84,606,963 (GRCm38) critical splice donor site probably null
IGL03007:Plekhh2 APN 17 84,574,960 (GRCm38) missense possibly damaging 0.65
R0003:Plekhh2 UTSW 17 84,557,392 (GRCm38) missense probably damaging 1.00
R0005:Plekhh2 UTSW 17 84,586,433 (GRCm38) missense probably benign 0.16
R0099:Plekhh2 UTSW 17 84,591,672 (GRCm38) nonsense probably null
R0331:Plekhh2 UTSW 17 84,586,366 (GRCm38) missense possibly damaging 0.81
R0883:Plekhh2 UTSW 17 84,618,031 (GRCm38) missense probably benign 0.11
R1051:Plekhh2 UTSW 17 84,521,827 (GRCm38) critical splice donor site probably null
R1084:Plekhh2 UTSW 17 84,571,126 (GRCm38) missense probably damaging 0.99
R1351:Plekhh2 UTSW 17 84,577,146 (GRCm38) splice site probably benign
R1459:Plekhh2 UTSW 17 84,610,775 (GRCm38) nonsense probably null
R1469:Plekhh2 UTSW 17 84,575,771 (GRCm38) missense probably benign 0.03
R1469:Plekhh2 UTSW 17 84,575,771 (GRCm38) missense probably benign 0.03
R1510:Plekhh2 UTSW 17 84,559,576 (GRCm38) splice site probably null
R1699:Plekhh2 UTSW 17 84,577,184 (GRCm38) nonsense probably null
R1738:Plekhh2 UTSW 17 84,566,697 (GRCm38) missense possibly damaging 0.67
R1773:Plekhh2 UTSW 17 84,599,265 (GRCm38) missense probably damaging 1.00
R1796:Plekhh2 UTSW 17 84,599,133 (GRCm38) critical splice acceptor site probably null
R1823:Plekhh2 UTSW 17 84,575,189 (GRCm38) missense probably damaging 1.00
R1998:Plekhh2 UTSW 17 84,606,877 (GRCm38) missense possibly damaging 0.58
R2437:Plekhh2 UTSW 17 84,586,479 (GRCm38) splice site probably null
R2847:Plekhh2 UTSW 17 84,597,966 (GRCm38) missense probably damaging 1.00
R4088:Plekhh2 UTSW 17 84,617,999 (GRCm38) missense probably benign 0.10
R4227:Plekhh2 UTSW 17 84,566,795 (GRCm38) missense probably benign 0.00
R4249:Plekhh2 UTSW 17 84,586,337 (GRCm38) missense possibly damaging 0.93
R4347:Plekhh2 UTSW 17 84,619,702 (GRCm38) missense probably benign 0.12
R4562:Plekhh2 UTSW 17 84,566,097 (GRCm38) missense probably benign 0.00
R4649:Plekhh2 UTSW 17 84,575,263 (GRCm38) missense probably damaging 1.00
R4737:Plekhh2 UTSW 17 84,563,959 (GRCm38) missense probably benign
R4743:Plekhh2 UTSW 17 84,571,120 (GRCm38) missense probably damaging 1.00
R4858:Plekhh2 UTSW 17 84,600,697 (GRCm38) missense probably damaging 1.00
R5260:Plekhh2 UTSW 17 84,577,165 (GRCm38) missense probably damaging 0.99
R5385:Plekhh2 UTSW 17 84,557,466 (GRCm38) missense probably benign 0.00
R5409:Plekhh2 UTSW 17 84,586,478 (GRCm38) critical splice donor site probably null
R5510:Plekhh2 UTSW 17 84,566,847 (GRCm38) missense probably benign
R5557:Plekhh2 UTSW 17 84,560,152 (GRCm38) missense probably benign 0.10
R5684:Plekhh2 UTSW 17 84,597,918 (GRCm38) missense probably damaging 1.00
R5685:Plekhh2 UTSW 17 84,569,882 (GRCm38) missense probably damaging 1.00
R5724:Plekhh2 UTSW 17 84,566,805 (GRCm38) missense probably benign 0.00
R5742:Plekhh2 UTSW 17 84,597,980 (GRCm38) missense probably damaging 1.00
R5817:Plekhh2 UTSW 17 84,571,726 (GRCm38) missense possibly damaging 0.86
R6218:Plekhh2 UTSW 17 84,591,564 (GRCm38) missense probably benign 0.03
R6334:Plekhh2 UTSW 17 84,566,866 (GRCm38) missense probably benign
R6345:Plekhh2 UTSW 17 84,575,787 (GRCm38) missense probably benign 0.01
R6617:Plekhh2 UTSW 17 84,566,287 (GRCm38) missense possibly damaging 0.65
R6755:Plekhh2 UTSW 17 84,591,585 (GRCm38) missense probably damaging 1.00
R6864:Plekhh2 UTSW 17 84,617,999 (GRCm38) missense probably benign 0.10
R7171:Plekhh2 UTSW 17 84,521,788 (GRCm38) missense probably damaging 0.96
R7413:Plekhh2 UTSW 17 84,566,296 (GRCm38) missense probably benign 0.03
R7585:Plekhh2 UTSW 17 84,577,180 (GRCm38) missense probably benign 0.11
R7640:Plekhh2 UTSW 17 84,610,776 (GRCm38) missense possibly damaging 0.50
R7733:Plekhh2 UTSW 17 84,583,524 (GRCm38) nonsense probably null
R7877:Plekhh2 UTSW 17 84,575,006 (GRCm38) missense probably benign
R8085:Plekhh2 UTSW 17 84,597,956 (GRCm38) missense probably damaging 0.98
R8206:Plekhh2 UTSW 17 84,590,849 (GRCm38) missense possibly damaging 0.47
R8296:Plekhh2 UTSW 17 84,600,685 (GRCm38) missense probably damaging 0.98
R8344:Plekhh2 UTSW 17 84,571,761 (GRCm38) missense possibly damaging 0.64
R8438:Plekhh2 UTSW 17 84,569,951 (GRCm38) missense probably benign
R8487:Plekhh2 UTSW 17 84,557,481 (GRCm38) missense possibly damaging 0.55
R8708:Plekhh2 UTSW 17 84,574,993 (GRCm38) missense probably benign 0.00
R8830:Plekhh2 UTSW 17 84,521,803 (GRCm38) missense probably damaging 1.00
R8847:Plekhh2 UTSW 17 84,571,051 (GRCm38) missense probably benign 0.00
R8918:Plekhh2 UTSW 17 84,599,193 (GRCm38) missense possibly damaging 0.80
R9047:Plekhh2 UTSW 17 84,590,762 (GRCm38) missense probably damaging 0.99
R9404:Plekhh2 UTSW 17 84,571,040 (GRCm38) critical splice acceptor site probably null
R9428:Plekhh2 UTSW 17 84,566,413 (GRCm38) missense probably benign
R9516:Plekhh2 UTSW 17 84,610,812 (GRCm38) missense probably benign 0.00
R9559:Plekhh2 UTSW 17 84,591,589 (GRCm38) missense probably damaging 1.00
R9589:Plekhh2 UTSW 17 84,547,490 (GRCm38) missense possibly damaging 0.90
R9641:Plekhh2 UTSW 17 84,566,702 (GRCm38) missense probably damaging 1.00
R9659:Plekhh2 UTSW 17 84,547,464 (GRCm38) missense possibly damaging 0.95
R9788:Plekhh2 UTSW 17 84,547,464 (GRCm38) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GTTCTGTAAAGCATTGCCTGTG -3'
(R):5'- CTAGGCTCATGTCCATTACGG -3'

Sequencing Primer
(F):5'- CTGTAAAGCATTGCCTGTGTAAAGAG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On 2016-06-06