Incidental Mutation 'R5615:Plekhd1'
ID 438209
Institutional Source Beutler Lab
Gene Symbol Plekhd1
Ensembl Gene ENSMUSG00000066438
Gene Name pleckstrin homology domain containing, family D (with coiled-coil domains) member 1
Synonyms 3830431G21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5615 (G1)
Quality Score 206
Status Not validated
Chromosome 12
Chromosomal Location 80739375-80770990 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80767364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 251 (S251T)
Ref Sequence ENSEMBL: ENSMUSP00000119711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140770]
AlphaFold B2RPU2
Predicted Effect probably damaging
Transcript: ENSMUST00000140770
AA Change: S251T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119711
Gene: ENSMUSG00000066438
AA Change: S251T

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
PH 29 138 9.19e-13 SMART
coiled coil region 146 392 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153762
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,346,218 (GRCm39) L884H probably damaging Het
Ahr A G 12: 35,553,884 (GRCm39) V745A probably benign Het
Ankrd17 A T 5: 90,431,295 (GRCm39) S830T possibly damaging Het
Aox1 A G 1: 58,136,125 (GRCm39) T1123A probably benign Het
Arhgef11 T C 3: 87,629,792 (GRCm39) probably null Het
Bcas3 T A 11: 85,361,587 (GRCm39) C250S probably damaging Het
Bckdk T C 7: 127,506,489 (GRCm39) I272T probably damaging Het
Cacna1e T C 1: 154,287,916 (GRCm39) K1897E probably damaging Het
Cd180 A T 13: 102,842,711 (GRCm39) I586F probably benign Het
Cep290 A G 10: 100,367,012 (GRCm39) D1121G probably damaging Het
Clasrp A G 7: 19,320,372 (GRCm39) probably benign Het
Col27a1 G T 4: 63,199,351 (GRCm39) K912N probably damaging Het
Dock4 G T 12: 40,699,479 (GRCm39) R231L probably benign Het
Ell G A 8: 71,043,382 (GRCm39) S505N probably benign Het
Ephb6 A G 6: 41,596,225 (GRCm39) T833A probably benign Het
Hemk1 T A 9: 107,208,023 (GRCm39) probably null Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hspa12a T C 19: 58,793,082 (GRCm39) I368V possibly damaging Het
Igkv3-3 A T 6: 70,664,214 (GRCm39) T19S probably benign Het
Itpr1 G A 6: 108,465,561 (GRCm39) A2158T possibly damaging Het
Lancl2 T C 6: 57,699,496 (GRCm39) Y104H probably damaging Het
Leng8 G T 7: 4,147,957 (GRCm39) E634* probably null Het
Lrrk1 A T 7: 65,937,363 (GRCm39) C930S probably damaging Het
Lvrn C T 18: 46,983,395 (GRCm39) S46L possibly damaging Het
Mcidas G A 13: 113,133,959 (GRCm39) V148I probably benign Het
Mprip A T 11: 59,649,313 (GRCm39) T1006S probably benign Het
Mrgprb3 T A 7: 48,293,234 (GRCm39) M106L probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtor G A 4: 148,622,733 (GRCm39) V1938I possibly damaging Het
Muc2 A G 7: 141,277,446 (GRCm39) D46G probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10ag52 T A 2: 87,044,083 (GRCm39) F282L probably benign Het
Or6c215 A T 10: 129,637,636 (GRCm39) C253S probably damaging Het
Osbp2 C T 11: 3,813,356 (GRCm39) G171D probably benign Het
Otud6b A T 4: 14,818,187 (GRCm39) M238K possibly damaging Het
Pcdhac2 G A 18: 37,279,476 (GRCm39) G819R probably benign Het
Pcdhac2 G T 18: 37,279,477 (GRCm39) G819V probably benign Het
Pcdhga12 T G 18: 37,901,132 (GRCm39) S655A probably damaging Het
Pkd1l3 A G 8: 110,356,842 (GRCm39) I756V probably benign Het
Ppp2r1a A T 17: 21,179,249 (GRCm39) T96S probably benign Het
Qser1 A C 2: 104,620,039 (GRCm39) S258A possibly damaging Het
Rsph4a G A 10: 33,785,324 (GRCm39) A412T probably benign Het
Sanbr A T 11: 23,556,759 (GRCm39) L407H probably damaging Het
Sass6 T A 3: 116,401,135 (GRCm39) C159S probably benign Het
Scaf4 T C 16: 90,048,848 (GRCm39) Q322R unknown Het
Sema6d C T 2: 124,498,821 (GRCm39) H244Y probably damaging Het
Sigirr T G 7: 140,672,632 (GRCm39) L163F probably damaging Het
Spata31d1c C A 13: 65,183,078 (GRCm39) L207I possibly damaging Het
Tacstd2 A G 6: 67,512,033 (GRCm39) F220L probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tnxb C A 17: 34,902,392 (GRCm39) Q1082K probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,698,192 (GRCm39) probably benign Het
Trpm6 C T 19: 18,807,297 (GRCm39) R1014C probably damaging Het
Ugt1a10 TTCATCA TTCA 1: 88,143,880 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r61 T A 7: 41,916,677 (GRCm39) M430K probably benign Het
Vmn2r61 A G 7: 41,949,917 (GRCm39) E779G probably damaging Het
Zfp599 T C 9: 22,165,165 (GRCm39) D70G probably benign Het
Zmym1 A T 4: 126,943,191 (GRCm39) I301N probably damaging Het
Other mutations in Plekhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02882:Plekhd1 APN 12 80,765,781 (GRCm39) critical splice donor site probably null
R0377:Plekhd1 UTSW 12 80,753,210 (GRCm39) splice site probably benign
R0462:Plekhd1 UTSW 12 80,768,352 (GRCm39) missense probably damaging 1.00
R0626:Plekhd1 UTSW 12 80,764,075 (GRCm39) missense probably damaging 1.00
R1125:Plekhd1 UTSW 12 80,753,998 (GRCm39) missense possibly damaging 0.83
R1344:Plekhd1 UTSW 12 80,739,659 (GRCm39) missense probably benign
R1418:Plekhd1 UTSW 12 80,739,659 (GRCm39) missense probably benign
R1694:Plekhd1 UTSW 12 80,769,095 (GRCm39) missense possibly damaging 0.90
R2070:Plekhd1 UTSW 12 80,739,681 (GRCm39) nonsense probably null
R2073:Plekhd1 UTSW 12 80,768,066 (GRCm39) missense probably benign 0.19
R2231:Plekhd1 UTSW 12 80,768,725 (GRCm39) missense possibly damaging 0.74
R2326:Plekhd1 UTSW 12 80,768,873 (GRCm39) splice site probably null
R3615:Plekhd1 UTSW 12 80,764,044 (GRCm39) missense probably damaging 1.00
R3616:Plekhd1 UTSW 12 80,764,044 (GRCm39) missense probably damaging 1.00
R4899:Plekhd1 UTSW 12 80,769,101 (GRCm39) missense probably damaging 1.00
R4955:Plekhd1 UTSW 12 80,768,795 (GRCm39) missense possibly damaging 0.54
R5028:Plekhd1 UTSW 12 80,739,723 (GRCm39) missense probably damaging 1.00
R5446:Plekhd1 UTSW 12 80,767,410 (GRCm39) missense probably benign 0.00
R5648:Plekhd1 UTSW 12 80,767,362 (GRCm39) missense probably damaging 1.00
R5766:Plekhd1 UTSW 12 80,769,140 (GRCm39) missense probably benign
R6534:Plekhd1 UTSW 12 80,754,031 (GRCm39) missense probably damaging 0.99
R7003:Plekhd1 UTSW 12 80,768,734 (GRCm39) missense possibly damaging 0.92
R7615:Plekhd1 UTSW 12 80,769,219 (GRCm39) missense probably benign 0.02
R7656:Plekhd1 UTSW 12 80,768,934 (GRCm39) splice site probably null
R8348:Plekhd1 UTSW 12 80,753,149 (GRCm39) missense probably damaging 0.97
R8448:Plekhd1 UTSW 12 80,753,149 (GRCm39) missense probably damaging 0.97
R8750:Plekhd1 UTSW 12 80,752,861 (GRCm39) missense probably damaging 1.00
R8883:Plekhd1 UTSW 12 80,767,368 (GRCm39) missense probably benign 0.13
R9220:Plekhd1 UTSW 12 80,768,726 (GRCm39) missense possibly damaging 0.95
R9235:Plekhd1 UTSW 12 80,768,791 (GRCm39) missense possibly damaging 0.69
R9553:Plekhd1 UTSW 12 80,753,977 (GRCm39) missense probably benign 0.09
R9604:Plekhd1 UTSW 12 80,739,731 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCCGTGTTCTAAGAAAGGAG -3'
(R):5'- TAACTCGAAGGCAGACACAG -3'

Sequencing Primer
(F):5'- CCGTGTTCTAAGAAAGGAGATCTTG -3'
(R):5'- AGCCCCTCAGATGCTTAAGG -3'
Posted On 2016-10-26