Incidental Mutation 'IGL02530:Plekhb2'
ID 297269
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekhb2
Ensembl Gene ENSMUSG00000026123
Gene Name pleckstrin homology domain containing, family B (evectins) member 2
Synonyms 2310009M15Rik, Phdc, evt-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02530
Quality Score
Status
Chromosome 1
Chromosomal Location 34849976-34879580 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34876941 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 187 (V187A)
Ref Sequence ENSEMBL: ENSMUSP00000027297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027297] [ENSMUST00000156687]
AlphaFold Q9QZC7
PDB Structure Solution structure of the PH domain of Evectin-2 from mouse [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027297
AA Change: V187A

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027297
Gene: ENSMUSG00000026123
AA Change: V187A

DomainStartEndE-ValueType
PH 3 111 3.65e-7 SMART
low complexity region 126 140 N/A INTRINSIC
low complexity region 143 155 N/A INTRINSIC
low complexity region 164 183 N/A INTRINSIC
low complexity region 200 215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156687
SMART Domains Protein: ENSMUSP00000140475
Gene: ENSMUSG00000026123

DomainStartEndE-ValueType
PH 3 111 3.65e-7 SMART
low complexity region 126 140 N/A INTRINSIC
low complexity region 143 155 N/A INTRINSIC
low complexity region 165 176 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191722
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T C 7: 66,909,376 F305L probably damaging Het
Ankrd12 T C 17: 65,984,403 H1345R probably benign Het
Bloc1s5 A T 13: 38,603,883 M175K probably damaging Het
C9 T A 15: 6,497,132 M549K probably benign Het
Cfap52 A G 11: 67,954,181 probably benign Het
Cntnap2 A T 6: 47,021,736 K907N possibly damaging Het
Cox8c T A 12: 102,899,493 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp26b1 A T 6: 84,574,312 N307K possibly damaging Het
Cyp2s1 T C 7: 25,816,424 probably benign Het
Dpysl2 G A 14: 66,824,398 T253I probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Egflam T A 15: 7,222,812 I835F probably damaging Het
Eif5a A T 11: 69,919,163 H51Q possibly damaging Het
Fancd2 T A 6: 113,562,461 I637N probably damaging Het
Gpr173 T A X: 152,347,096 H127L probably damaging Het
Klc3 T C 7: 19,397,044 I203V probably benign Het
Lsg1 T C 16: 30,571,242 K352E probably benign Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Med12l G T 3: 59,077,089 D483Y probably damaging Het
Mlh1 A G 9: 111,229,875 Y694H probably benign Het
Mmrn1 A G 6: 60,958,176 R219G possibly damaging Het
Nsd1 T C 13: 55,302,833 probably benign Het
Olfr1080 C T 2: 86,553,880 M81I possibly damaging Het
Olfr1392 A T 11: 49,293,728 M136L possibly damaging Het
Pax3 A T 1: 78,121,787 S322T possibly damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Pot1a A T 6: 25,794,593 F31I probably damaging Het
Rpap1 A T 2: 119,783,239 probably benign Het
Scmh1 T A 4: 120,528,146 probably benign Het
Scn2a A G 2: 65,730,178 T1251A probably damaging Het
Siglecf T C 7: 43,352,210 V148A probably benign Het
Slit3 A G 11: 35,708,142 *1524W probably null Het
Son C A 16: 91,658,471 P1369T possibly damaging Het
Spp2 T A 1: 88,411,146 L25* probably null Het
Sptbn4 T C 7: 27,391,551 Q1405R probably damaging Het
Traf3ip2 G T 10: 39,646,906 A463S possibly damaging Het
Trappc11 T C 8: 47,507,582 E27G probably damaging Het
Vmn2r12 C T 5: 109,085,992 V785I probably damaging Het
Zc3h8 A G 2: 128,943,926 probably benign Het
Zfp57 T A 17: 37,006,164 S45T probably damaging Het
Other mutations in Plekhb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01665:Plekhb2 APN 1 34869330 missense probably damaging 0.98
IGL02721:Plekhb2 APN 1 34869364 missense probably benign 0.00
IGL02942:Plekhb2 APN 1 34876992 missense probably damaging 0.96
R0022:Plekhb2 UTSW 1 34866239 splice site probably benign
R0379:Plekhb2 UTSW 1 34863114 missense probably damaging 1.00
R4151:Plekhb2 UTSW 1 34864483 missense probably benign 0.00
R6449:Plekhb2 UTSW 1 34864483 missense probably benign
R6927:Plekhb2 UTSW 1 34876901 splice site probably null
R9015:Plekhb2 UTSW 1 34876965 missense probably benign 0.00
R9549:Plekhb2 UTSW 1 34863471 missense probably benign 0.04
Z1177:Plekhb2 UTSW 1 34863156 missense probably benign 0.08
Posted On 2015-04-16