Incidental Mutation 'R8717:Plekho2'
ID 669964
Institutional Source Beutler Lab
Gene Symbol Plekho2
Ensembl Gene ENSMUSG00000050721
Gene Name pleckstrin homology domain containing, family O member 2
Synonyms Plekhq1
MMRRC Submission 068570-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R8717 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 65459980-65487322 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65464058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 264 (N264D)
Ref Sequence ENSEMBL: ENSMUSP00000063677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068944]
AlphaFold Q8K124
Predicted Effect probably benign
Transcript: ENSMUST00000068944
AA Change: N264D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000063677
Gene: ENSMUSG00000050721
AA Change: N264D

DomainStartEndE-ValueType
PH 19 122 3.15e-11 SMART
low complexity region 141 157 N/A INTRINSIC
low complexity region 278 289 N/A INTRINSIC
low complexity region 305 313 N/A INTRINSIC
low complexity region 324 335 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,543,958 (GRCm39) F528L probably benign Het
Aadacl3 T G 4: 144,182,778 (GRCm39) D230A probably damaging Het
Adgrf3 T A 5: 30,403,579 (GRCm39) probably benign Het
Agtr1a A C 13: 30,565,357 (GRCm39) T141P probably damaging Het
Ankfy1 T A 11: 72,621,300 (GRCm39) D195E probably benign Het
AY074887 G A 9: 54,857,786 (GRCm39) T113I probably damaging Het
Cacna1c G A 6: 119,034,314 (GRCm39) A71V Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cntrl T A 2: 35,003,351 (GRCm39) V78E probably benign Het
Cyp2c67 T A 19: 39,627,155 (GRCm39) Y225F probably benign Het
Cyp2j13 T A 4: 95,933,777 (GRCm39) H369L probably benign Het
Dagla T C 19: 10,225,587 (GRCm39) E859G probably benign Het
Duox1 C A 2: 122,168,152 (GRCm39) S1092R possibly damaging Het
Elfn2 C A 15: 78,556,561 (GRCm39) S662I probably benign Het
Epor A T 9: 21,870,741 (GRCm39) C380S probably benign Het
Fsd2 T C 7: 81,190,090 (GRCm39) E564G probably benign Het
Hace1 C T 10: 45,481,694 (GRCm39) T117I unknown Het
Ift172 A G 5: 31,412,985 (GRCm39) M1488T probably benign Het
Insyn1 A G 9: 58,406,623 (GRCm39) T178A probably damaging Het
Kdm3b A G 18: 34,952,840 (GRCm39) E1070G probably damaging Het
Lrp6 A G 6: 134,434,711 (GRCm39) F1331L probably benign Het
Lrrc74a G A 12: 86,783,253 (GRCm39) E33K probably damaging Het
Magel2 T C 7: 62,027,420 (GRCm39) M108T unknown Het
Mief1 T C 15: 80,132,584 (GRCm39) S127P probably benign Het
Mprip T C 11: 59,650,526 (GRCm39) V1410A probably benign Het
Muc1 G A 3: 89,138,821 (GRCm39) V477M possibly damaging Het
Nat8f3 A T 6: 85,738,687 (GRCm39) M25K possibly damaging Het
Neb T G 2: 52,073,781 (GRCm39) H5942P probably damaging Het
Nf2 A T 11: 4,766,099 (GRCm39) Y144N probably damaging Het
Nipbl T A 15: 8,368,225 (GRCm39) M1166L probably benign Het
Npnt A T 3: 132,614,136 (GRCm39) L206Q probably damaging Het
Or10ak13 T C 4: 118,638,996 (GRCm39) Y262C probably damaging Het
Or4g7 A G 2: 111,309,992 (GRCm39) T288A probably damaging Het
Or6c65 T A 10: 129,604,127 (GRCm39) I254N probably damaging Het
Parg A G 14: 31,932,492 (GRCm39) K444R probably benign Het
Pcbp4 A T 9: 106,337,202 (GRCm39) probably null Het
Pcdhgb4 A G 18: 37,853,847 (GRCm39) S81G probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Pmpca T A 2: 26,281,893 (GRCm39) M182K probably damaging Het
Prdm10 A G 9: 31,252,695 (GRCm39) H476R probably benign Het
Prxl2a G A 14: 40,720,836 (GRCm39) P126S possibly damaging Het
Rab7 T C 6: 87,989,369 (GRCm39) S34G probably damaging Het
Rbp3 G A 14: 33,678,395 (GRCm39) R781H probably damaging Het
Rngtt T A 4: 33,368,695 (GRCm39) S409R probably damaging Het
Ryr1 C A 7: 28,751,753 (GRCm39) R3680L probably benign Het
Sbno1 T C 5: 124,512,618 (GRCm39) S1384G possibly damaging Het
Shmt1 T C 11: 60,685,763 (GRCm39) D271G probably benign Het
Sin3a C T 9: 57,034,510 (GRCm39) R1228W probably damaging Het
Slc25a39 T C 11: 102,294,620 (GRCm39) R294G probably benign Het
Smcr8 T A 11: 60,670,254 (GRCm39) S467R probably damaging Het
Spaca7 A G 8: 12,636,480 (GRCm39) Y102C probably damaging Het
Tacr1 A G 6: 82,380,706 (GRCm39) Y39C probably damaging Het
Tenm3 G A 8: 48,752,680 (GRCm39) S894L possibly damaging Het
Tmem115 T A 9: 107,415,132 (GRCm39) M307K possibly damaging Het
Tnn A G 1: 159,943,846 (GRCm39) V989A possibly damaging Het
Trabd2b T A 4: 114,460,186 (GRCm39) N441K probably damaging Het
Ttll1 T C 15: 83,373,709 (GRCm39) K368R probably benign Het
Tubgcp2 C T 7: 139,576,705 (GRCm39) V858I probably benign Het
Ufsp2 G T 8: 46,436,614 (GRCm39) V122L probably benign Het
Wdr26 A G 1: 181,011,913 (GRCm39) C470R possibly damaging Het
Xab2 T C 8: 3,663,845 (GRCm39) H358R probably benign Het
Xrcc5 A G 1: 72,422,905 (GRCm39) I697V probably benign Het
Other mutations in Plekho2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Plekho2 APN 9 65,465,912 (GRCm39) missense probably damaging 1.00
IGL02938:Plekho2 APN 9 65,465,902 (GRCm39) missense possibly damaging 0.88
IGL03354:Plekho2 APN 9 65,466,703 (GRCm39) missense probably null 1.00
IGL03369:Plekho2 APN 9 65,466,776 (GRCm39) missense probably damaging 1.00
R0108:Plekho2 UTSW 9 65,466,705 (GRCm39) missense probably damaging 1.00
R0419:Plekho2 UTSW 9 65,464,334 (GRCm39) missense possibly damaging 0.79
R0930:Plekho2 UTSW 9 65,464,105 (GRCm39) missense possibly damaging 0.93
R1981:Plekho2 UTSW 9 65,465,974 (GRCm39) missense probably damaging 1.00
R5308:Plekho2 UTSW 9 65,465,957 (GRCm39) missense probably damaging 0.97
R5650:Plekho2 UTSW 9 65,464,018 (GRCm39) missense probably benign 0.02
R6529:Plekho2 UTSW 9 65,480,383 (GRCm39) missense probably benign 0.03
R6741:Plekho2 UTSW 9 65,471,197 (GRCm39) missense probably damaging 1.00
R7138:Plekho2 UTSW 9 65,463,635 (GRCm39) missense probably benign 0.01
R7684:Plekho2 UTSW 9 65,466,816 (GRCm39) splice site probably null
R8698:Plekho2 UTSW 9 65,463,554 (GRCm39) missense probably damaging 1.00
R8845:Plekho2 UTSW 9 65,465,963 (GRCm39) missense probably damaging 1.00
R9331:Plekho2 UTSW 9 65,463,866 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAGCCTTCATCTTCTCCGACAG -3'
(R):5'- GCTCCTCTCAGTGACATCAG -3'

Sequencing Primer
(F):5'- TCCGACAGGATCTTGGGAG -3'
(R):5'- GTGACATCAGTGAAGACCAGCC -3'
Posted On 2021-04-30