Incidental Mutation 'R2073:Plekhd1'
ID 227357
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
MMRRC Submission 040078-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R2073 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 80739375-80770990 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80768066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 335 (N335D)
Ref Sequence ENSEMBL: ENSMUSP00000119711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140770]
AlphaFold B2RPU2
Predicted Effect probably benign
Transcript: ENSMUST00000140770
AA Change: N335D

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000119711
Gene: ENSMUSG00000066438
AA Change: N335D

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T C 7: 130,959,242 (GRCm39) R153G probably benign Het
5730596B20Rik C A 6: 52,155,962 (GRCm39) Y9* probably null Het
Aco1 G A 4: 40,183,605 (GRCm39) G508S probably damaging Het
Acot3 A G 12: 84,100,230 (GRCm39) H2R possibly damaging Het
Adamts13 T A 2: 26,896,326 (GRCm39) C1240S probably damaging Het
Adra1b T C 11: 43,726,698 (GRCm39) N73S probably damaging Het
Aebp2 G A 6: 140,579,420 (GRCm39) S219N probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Ank T C 15: 27,565,108 (GRCm39) S270P probably benign Het
Ankle1 G A 8: 71,861,973 (GRCm39) R492H possibly damaging Het
Ankub1 G A 3: 57,599,713 (GRCm39) H19Y possibly damaging Het
Anln C A 9: 22,244,464 (GRCm39) W1083L probably benign Het
Apaf1 G T 10: 90,867,556 (GRCm39) S763* probably null Het
Apba3 A G 10: 81,105,128 (GRCm39) T134A probably benign Het
Armh3 A T 19: 45,953,820 (GRCm39) I188K probably damaging Het
Bod1l C T 5: 41,976,532 (GRCm39) S1594N probably benign Het
C7 T C 15: 5,019,910 (GRCm39) M746V probably benign Het
Cdkn2a T A 4: 89,212,730 (GRCm39) I11F possibly damaging Het
Cideb T C 14: 55,992,617 (GRCm39) M100V possibly damaging Het
Cntnap5c T C 17: 58,612,547 (GRCm39) L862P possibly damaging Het
Coch A T 12: 51,649,472 (GRCm39) D261V probably benign Het
Cyp2ab1 A G 16: 20,132,639 (GRCm39) F220L possibly damaging Het
Ddx10 A T 9: 53,151,805 (GRCm39) D73E probably benign Het
Dgkg A G 16: 22,384,067 (GRCm39) F462S probably damaging Het
Dlgap3 C T 4: 127,089,159 (GRCm39) H252Y probably damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dnaaf6rt A G 1: 31,262,077 (GRCm39) S20G probably benign Het
Dnai4 G A 4: 102,907,390 (GRCm39) T632M probably damaging Het
Dtnb A G 12: 3,831,273 (GRCm39) T658A probably benign Het
Duox2 T A 2: 122,125,639 (GRCm39) S323C probably damaging Het
Dync1h1 T A 12: 110,581,026 (GRCm39) I251N probably damaging Het
Eml5 A G 12: 98,768,705 (GRCm39) S1457P probably damaging Het
Fam114a1 T A 5: 65,153,247 (GRCm39) probably null Het
Fcho1 A T 8: 72,163,133 (GRCm39) L632Q probably damaging Het
Gm12695 T C 4: 96,612,182 (GRCm39) Y527C possibly damaging Het
Gm16223 T C 5: 42,371,942 (GRCm39) C111R unknown Het
H2-Q4 T A 17: 35,599,378 (GRCm39) S154T possibly damaging Het
Hhat A G 1: 192,409,687 (GRCm39) F125L possibly damaging Het
Ier5l T A 2: 30,363,068 (GRCm39) D319V probably damaging Het
Kif5a T C 10: 127,081,238 (GRCm39) D232G probably damaging Het
M1ap A G 6: 82,958,863 (GRCm39) I165V probably benign Het
Map2k4 A C 11: 65,584,282 (GRCm39) F334V probably damaging Het
Mmp19 G A 10: 128,630,848 (GRCm39) R156H probably damaging Het
Mpped2 T A 2: 106,575,147 (GRCm39) Y77* probably null Het
Nhs T A X: 160,625,717 (GRCm39) H544L probably damaging Het
Nr4a1 C A 15: 101,171,948 (GRCm39) H541N probably damaging Het
Or4a74 A G 2: 89,439,822 (GRCm39) V208A probably benign Het
Or5b122 A T 19: 13,562,965 (GRCm39) Q99L probably damaging Het
Pak6 A C 2: 118,519,332 (GRCm39) N17T probably damaging Het
Pcnt T A 10: 76,216,214 (GRCm39) T2225S possibly damaging Het
Pdzd2 A G 15: 12,385,905 (GRCm39) L955P probably damaging Het
Phf21a A G 2: 92,178,381 (GRCm39) D357G probably damaging Het
Pkhd1l1 G T 15: 44,422,035 (GRCm39) A3102S probably damaging Het
Plch2 A T 4: 155,074,366 (GRCm39) L754Q probably damaging Het
Pole C A 5: 110,473,417 (GRCm39) T1737N probably damaging Het
Potefam1 T C 2: 111,030,763 (GRCm39) E382G probably damaging Het
Pramel6 G A 2: 87,339,088 (GRCm39) S96N probably damaging Het
Prdm14 A C 1: 13,195,954 (GRCm39) Y36D possibly damaging Het
Psg27 T C 7: 18,294,342 (GRCm39) D355G probably damaging Het
Rfc1 A T 5: 65,459,282 (GRCm39) D225E probably damaging Het
Sec16a A G 2: 26,330,251 (GRCm39) I588T probably damaging Het
Setd6 G A 8: 96,443,416 (GRCm39) V60M probably damaging Het
Sgk3 A G 1: 9,961,649 (GRCm39) I432V probably benign Het
Six2 A G 17: 85,994,933 (GRCm39) S150P probably damaging Het
Slc1a6 T C 10: 78,635,964 (GRCm39) V343A possibly damaging Het
Slc43a3 T C 2: 84,774,956 (GRCm39) probably null Het
Smc3 A G 19: 53,619,964 (GRCm39) D620G probably benign Het
Smg6 C G 11: 74,821,120 (GRCm39) P464A probably damaging Het
Sox11 T C 12: 27,392,278 (GRCm39) T44A possibly damaging Het
Spata22 A G 11: 73,227,052 (GRCm39) R89G possibly damaging Het
Spmip6 A G 4: 41,507,519 (GRCm39) probably null Het
Stk3 T C 15: 34,959,195 (GRCm39) M256V possibly damaging Het
Syne2 A G 12: 76,062,353 (GRCm39) D4226G possibly damaging Het
Tecpr2 T C 12: 110,934,863 (GRCm39) S1370P possibly damaging Het
Tek A G 4: 94,715,966 (GRCm39) I463V probably benign Het
Trib1 T A 15: 59,526,189 (GRCm39) I253N probably damaging Het
Triobp G T 15: 78,858,095 (GRCm39) G1232V probably damaging Het
Trpm6 G A 19: 18,853,406 (GRCm39) V1809M probably damaging Het
Tsc22d4 A G 5: 137,760,749 (GRCm39) K57E possibly damaging Het
Vmn2r109 T A 17: 20,784,974 (GRCm39) K15N probably benign Het
Wnt9a A G 11: 59,222,055 (GRCm39) N318D probably damaging Het
Wwp1 A G 4: 19,662,181 (GRCm39) V138A possibly damaging Het
Zfp37 A T 4: 62,109,945 (GRCm39) M411K probably damaging Het
Zfp715 T A 7: 42,960,544 (GRCm39) T16S probably benign Het
Zfp932 A G 5: 110,157,684 (GRCm39) T461A possibly damaging Het
Zscan29 A T 2: 120,991,336 (GRCm39) C817* probably null 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
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
R5615:Plekhd1 UTSW 12 80,767,364 (GRCm39) missense probably damaging 1.00
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'- GAGAGGACTCAGCCTTTCTC -3'
(R):5'- AATTGAGGCCTTGTTCCAGGC -3'

Sequencing Primer
(F):5'- CTCTCTAGGCATGTCTGTAGCAG -3'
(R):5'- AAGGTCCATGCGTACTTTCAC -3'
Posted On 2014-09-17