Incidental Mutation 'IGL02011:Plcxd2'
ID183364
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plcxd2
Ensembl Gene ENSMUSG00000087141
Gene Namephosphatidylinositol-specific phospholipase C, X domain containing 2
SynonymsEG433022
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.208) question?
Stock #IGL02011
Quality Score
Status
Chromosome16
Chromosomal Location45959263-46010218 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45965091 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 317 (D317G)
Ref Sequence ENSEMBL: ENSMUSP00000114852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000130481]
Predicted Effect probably damaging
Transcript: ENSMUST00000130481
AA Change: D317G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114852
Gene: ENSMUSG00000087141
AA Change: D317G

DomainStartEndE-ValueType
SCOP:d2ptd__ 27 329 3e-71 SMART
PDB:1AOD|A 28 160 6e-8 PDB
Blast:PLCXc 46 212 3e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154775
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T A 14: 49,081,135 probably benign Het
Arg1 T C 10: 24,916,377 T215A probably benign Het
Arhgap15 A T 2: 43,780,755 K50N probably damaging Het
Ctdsp1 C T 1: 74,394,016 probably benign Het
Cwc22 A T 2: 77,921,022 D363E possibly damaging Het
Drd2 G T 9: 49,406,958 C400F probably damaging Het
Eef1akmt1 A T 14: 57,558,098 Y65N probably damaging Het
Gbp10 C A 5: 105,221,101 G291W probably damaging Het
Lrit1 T A 14: 37,062,323 V536E probably damaging Het
Olfr1411 T A 1: 92,596,899 Y127N probably damaging Het
Olfr464 C A 11: 87,914,882 W8L probably benign Het
Olfr599 G T 7: 103,338,849 R265L probably damaging Het
Pcdh12 C T 18: 38,281,420 G884D probably damaging Het
Pih1d1 G T 7: 45,156,732 A31S probably damaging Het
Prkaca T C 8: 83,990,936 F231S probably damaging Het
Raet1d T A 10: 22,371,574 I183K probably damaging Het
Scaper A G 9: 55,580,322 F752S probably damaging Het
Shisa9 C T 16: 12,244,638 T241I possibly damaging Het
Taar9 C T 10: 24,108,579 R319H possibly damaging Het
Unkl T A 17: 25,218,591 V365E probably damaging Het
Usp34 C T 11: 23,471,554 S3077F probably damaging Het
Vps16 A G 2: 130,441,479 I566V probably benign Het
Vrk2 T A 11: 26,471,717 T414S probably benign Het
Xpnpep1 A T 19: 53,002,465 probably benign Het
Zfp804a A G 2: 82,256,691 Q288R probably damaging Het
Other mutations in Plcxd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01658:Plcxd2 APN 16 45965061 missense probably benign
IGL02079:Plcxd2 APN 16 45972343 missense probably benign 0.43
IGL02658:Plcxd2 APN 16 45972326 missense probably benign 0.25
IGL03082:Plcxd2 APN 16 45965110 missense probably damaging 1.00
R0137:Plcxd2 UTSW 16 45980526 missense probably damaging 1.00
R0173:Plcxd2 UTSW 16 45965179 splice site probably null
R0276:Plcxd2 UTSW 16 46009707 missense probably benign 0.12
R0453:Plcxd2 UTSW 16 45980556 missense probably damaging 0.99
R3848:Plcxd2 UTSW 16 45972266 missense probably damaging 1.00
R3963:Plcxd2 UTSW 16 45980501 missense probably damaging 1.00
R4820:Plcxd2 UTSW 16 45980337 missense probably benign 0.00
R4915:Plcxd2 UTSW 16 45980578 nonsense probably null
R5293:Plcxd2 UTSW 16 45980343 missense probably damaging 1.00
R6477:Plcxd2 UTSW 16 45980659 missense probably damaging 0.98
R6629:Plcxd2 UTSW 16 45965107 missense probably damaging 1.00
R6725:Plcxd2 UTSW 16 45972125 missense probably damaging 0.98
R6845:Plcxd2 UTSW 16 46009860 start gained probably benign
R6953:Plcxd2 UTSW 16 45980519 missense probably damaging 1.00
R7365:Plcxd2 UTSW 16 45980426 missense probably damaging 0.99
R7711:Plcxd2 UTSW 16 45980330 missense probably benign 0.04
R7821:Plcxd2 UTSW 16 45965161 missense probably damaging 1.00
R7875:Plcxd2 UTSW 16 46009702 missense possibly damaging 0.93
Posted On2014-05-07