Incidental Mutation 'R0626:Plekhd1'
ID 57531
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 038815-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R0626 (G1)
Quality Score 187
Status Not validated
Chromosome 12
Chromosomal Location 80739375-80770990 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 80764075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 212 (Q212H)
Ref Sequence ENSEMBL: ENSMUSP00000119711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140770]
AlphaFold B2RPU2
Predicted Effect probably damaging
Transcript: ENSMUST00000140770
AA Change: Q212H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119711
Gene: ENSMUSG00000066438
AA Change: Q212H

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: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,679,547 (GRCm39) probably benign Het
6430571L13Rik T A 9: 107,219,707 (GRCm39) D53E possibly damaging Het
A2ml1 T A 6: 128,527,736 (GRCm39) N1018I probably damaging Het
Abi3 C A 11: 95,727,937 (GRCm39) A85S probably benign Het
Acsl5 A T 19: 55,272,904 (GRCm39) M340L probably benign Het
Adam29 T A 8: 56,324,612 (GRCm39) H614L probably benign Het
Adgrg6 A T 10: 14,312,628 (GRCm39) S720T probably damaging Het
Adrb2 G T 18: 62,312,441 (GRCm39) A128E probably damaging Het
Afap1l1 T C 18: 61,872,291 (GRCm39) E510G probably benign Het
Angel1 A G 12: 86,764,487 (GRCm39) probably null Het
Aox3 T G 1: 58,211,458 (GRCm39) I1005S possibly damaging Het
Apc C A 18: 34,451,507 (GRCm39) P2767Q probably damaging Het
Apob T G 12: 8,066,193 (GRCm39) D4387E probably benign Het
Apobr T C 7: 126,185,827 (GRCm39) V446A possibly damaging Het
Arhgap28 A T 17: 68,203,108 (GRCm39) probably null Het
Aspm G T 1: 139,419,339 (GRCm39) K3001N probably damaging Het
Asxl3 G T 18: 22,655,937 (GRCm39) V1316F probably benign Het
Atp2a1 T A 7: 126,046,162 (GRCm39) probably null Het
Bach1 A G 16: 87,526,359 (GRCm39) D607G possibly damaging Het
Batf3 A G 1: 190,832,935 (GRCm39) D27G probably damaging Het
Baz1a G T 12: 55,022,055 (GRCm39) Q76K probably damaging Het
Bdnf G A 2: 109,553,883 (GRCm39) V86M probably benign Het
Birc7 A G 2: 180,573,098 (GRCm39) I172V probably benign Het
Bod1l A C 5: 41,988,880 (GRCm39) V409G probably damaging Het
Cacna1e T A 1: 154,364,563 (GRCm39) E337V probably damaging Het
Cacna1h A G 17: 25,612,520 (GRCm39) F287L possibly damaging Het
Ces1e A G 8: 93,950,671 (GRCm39) Y37H probably benign Het
Clasrp A T 7: 19,318,418 (GRCm39) probably benign Het
Clec2d T A 6: 129,160,090 (GRCm39) S35T probably damaging Het
Cntn4 T A 6: 106,639,539 (GRCm39) D556E probably benign Het
Cntnap5c A T 17: 58,349,422 (GRCm39) D245V probably benign Het
Col5a1 T A 2: 27,818,255 (GRCm39) L160* probably null Het
Col6a6 T C 9: 105,654,943 (GRCm39) E926G probably benign Het
Cpsf2 T A 12: 101,951,490 (GRCm39) H142Q probably benign Het
Cr2 A C 1: 194,853,419 (GRCm39) S20A possibly damaging Het
Ct45a G A X: 55,590,399 (GRCm39) P134L probably benign Het
Cyp2j5 A T 4: 96,547,749 (GRCm39) H164Q probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dmbt1 G A 7: 130,703,811 (GRCm39) V1124M probably damaging Het
Dmxl2 T C 9: 54,323,838 (GRCm39) H1182R probably damaging Het
Dnah2 A T 11: 69,368,509 (GRCm39) S1709T probably benign Het
Dop1b T C 16: 93,560,844 (GRCm39) V776A probably damaging Het
Emc3 T C 6: 113,492,992 (GRCm39) T220A probably benign Het
Entpd1 A C 19: 40,715,769 (GRCm39) N312T probably benign Het
Fam8a1 A T 13: 46,824,699 (GRCm39) I229F probably damaging Het
Fancc G A 13: 63,465,205 (GRCm39) P501S probably damaging Het
Fasn T C 11: 120,702,751 (GRCm39) R1704G probably damaging Het
Fsip2 A G 2: 82,819,302 (GRCm39) I5012V probably benign Het
Glce T C 9: 61,968,282 (GRCm39) T290A probably benign Het
Gns G A 10: 121,219,349 (GRCm39) probably null Het
Gsdma2 A G 11: 98,542,810 (GRCm39) N190S probably damaging Het
Hectd4 T A 5: 121,415,887 (GRCm39) S563T probably benign Het
Hmcn1 T C 1: 150,674,470 (GRCm39) probably null Het
Jup A T 11: 100,267,589 (GRCm39) M578K probably benign Het
Kir3dl1 G A X: 135,434,594 (GRCm39) probably null Het
Krt75 A G 15: 101,482,025 (GRCm39) F81S probably benign Het
Lrp1 G T 10: 127,403,233 (GRCm39) D2113E probably damaging Het
Maged2 T A X: 149,594,830 (GRCm39) N176Y probably damaging Het
Mrc1 T A 2: 14,333,382 (GRCm39) C1354* probably null Het
Mup7 A C 4: 60,069,742 (GRCm39) V74G possibly damaging Het
Naca A G 10: 127,877,031 (GRCm39) probably benign Het
Nav3 T G 10: 109,659,325 (GRCm39) Y764S probably damaging Het
Nkpd1 A T 7: 19,257,099 (GRCm39) T293S probably benign Het
Numb A G 12: 83,842,614 (GRCm39) Y510H probably damaging Het
Nynrin T G 14: 56,105,492 (GRCm39) L834R probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2ak5 G T 11: 58,611,347 (GRCm39) H176N probably benign Het
Or8g18 T A 9: 39,149,162 (GRCm39) N186I possibly damaging Het
Otog T C 7: 45,920,797 (GRCm39) V1000A possibly damaging Het
Pafah1b3 A G 7: 24,996,554 (GRCm39) V43A possibly damaging Het
Pcnx1 A G 12: 82,030,450 (GRCm39) Y1775C possibly damaging Het
Phka1 G A X: 101,564,437 (GRCm39) R1074C probably damaging Het
Pi4ka T A 16: 17,111,765 (GRCm39) Y1570F probably benign Het
Piezo2 T C 18: 63,152,329 (GRCm39) K2588E probably damaging Het
Pkd1 A G 17: 24,794,549 (GRCm39) T2079A probably damaging Het
Plekhh1 C T 12: 79,087,359 (GRCm39) R16* probably null Het
Polm C A 11: 5,786,207 (GRCm39) R120L probably damaging Het
Ptpn22 T C 3: 103,767,721 (GRCm39) M1T probably null Het
Ptprh G A 7: 4,567,271 (GRCm39) L534F probably benign Het
Rabl6 C T 2: 25,482,778 (GRCm39) probably null Het
Rap2a A G 14: 120,716,403 (GRCm39) S89G probably damaging Het
Rara A T 11: 98,862,406 (GRCm39) probably null Het
Reck A G 4: 43,930,295 (GRCm39) D623G probably benign Het
Relt A T 7: 100,498,023 (GRCm39) L237Q probably damaging Het
Rngtt A G 4: 33,329,598 (GRCm39) probably null Het
Rtn4rl2 T G 2: 84,710,763 (GRCm39) Y167S probably damaging Het
Sec24c C T 14: 20,738,505 (GRCm39) R353C probably damaging Het
Slc35g2 T C 9: 100,435,495 (GRCm39) S59G probably benign Het
Smarcd2 A T 11: 106,158,241 (GRCm39) M107K probably benign Het
Smg1 T C 7: 117,781,606 (GRCm39) N1227S possibly damaging Het
Snrnp200 A G 2: 127,063,734 (GRCm39) N638D possibly damaging Het
Sntb1 A G 15: 55,506,179 (GRCm39) S465P probably benign Het
Sp4 A G 12: 118,263,314 (GRCm39) L244P probably damaging Het
Sulf1 A G 1: 12,887,716 (GRCm39) probably null Het
Tbc1d17 T C 7: 44,492,509 (GRCm39) T385A probably benign Het
Tbx10 C A 19: 4,047,873 (GRCm39) D206E probably benign Het
Tcea2 C T 2: 181,329,431 (GRCm39) P275S probably damaging Het
Tns3 C A 11: 8,443,121 (GRCm39) R414L probably benign Het
Trip11 T C 12: 101,852,235 (GRCm39) R610G possibly damaging Het
Ugt2b1 T C 5: 87,073,720 (GRCm39) K213R probably null Het
Unc80 A G 1: 66,647,601 (GRCm39) S1514G probably benign Het
Usp7 G T 16: 8,511,778 (GRCm39) Q867K possibly damaging Het
Vim T C 2: 13,579,463 (GRCm39) V74A probably benign Het
Vmn1r234 A G 17: 21,450,007 (GRCm39) Y307C probably benign Het
Vmn2r74 A T 7: 85,610,517 (GRCm39) Y58* probably null Het
Wdr36 C A 18: 32,983,584 (GRCm39) A445E probably damaging Het
Xpo5 T A 17: 46,532,359 (GRCm39) W465R probably damaging Het
Zscan4d T A 7: 10,898,946 (GRCm39) R110S 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
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
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'- TTTATGCCCCAGACTGAGCCAAATC -3'
(R):5'- CCAGGGTATTTCCCCACTTAGTTGC -3'

Sequencing Primer
(F):5'- agactgagccaaatccagac -3'
(R):5'- CAGGGCATCCCCCATATTG -3'
Posted On 2013-07-11