Incidental Mutation 'IGL02658:Plcxd2'
ID302433
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: 0.198) question?
Stock #IGL02658
Quality Score
Status
Chromosome16
Chromosomal Location45959263-46010218 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 45972326 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 217 (F217I)
Ref Sequence ENSEMBL: ENSMUSP00000114852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000130481]
Predicted Effect probably benign
Transcript: ENSMUST00000130481
AA Change: F217I

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114852
Gene: ENSMUSG00000087141
AA Change: F217I

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,952,560 Y946F probably benign Het
Abcb4 T G 5: 8,934,240 W657G probably benign Het
Adcy1 T C 11: 7,138,279 probably benign Het
Arap3 A G 18: 37,990,994 V351A probably benign Het
Bpifb9b A C 2: 154,311,281 Y89S probably benign Het
Carns1 C T 19: 4,173,084 C47Y probably benign Het
Chd5 C T 4: 152,360,593 H344Y probably damaging Het
Ctnna2 T C 6: 76,980,824 T481A probably benign Het
Cyth1 T A 11: 118,182,246 D264V probably damaging Het
Dph1 C A 11: 75,180,635 L311F probably benign Het
Eif3l A G 15: 79,076,942 D65G probably damaging Het
Gtf2a1l T A 17: 88,668,718 F3Y probably benign Het
Hcn4 A T 9: 58,859,465 T770S unknown Het
Hydin A T 8: 110,413,276 I726F possibly damaging Het
Klf2 A G 8: 72,319,096 I7V probably benign Het
Ltn1 A T 16: 87,415,774 L633H probably damaging Het
Ncoa3 A G 2: 166,051,393 D206G probably benign Het
Nlrp4a T G 7: 26,449,713 D248E probably benign Het
Nyap1 A G 5: 137,735,484 I429T probably damaging Het
Olfr1370 G A 13: 21,072,812 T163I probably damaging Het
Olfr285 A G 15: 98,313,356 S65P probably damaging Het
Olfr338 T A 2: 36,377,060 C95S probably damaging Het
Olfr578 A G 7: 102,984,330 M278T probably benign Het
Olfr720 T A 14: 14,175,732 M117L possibly damaging Het
Pcf11 T C 7: 92,647,046 E1322G probably damaging Het
Plxna4 A T 6: 32,185,411 I1389N probably damaging Het
Ppp1r15a T C 7: 45,524,667 Y239C probably benign Het
Psma6 A G 12: 55,412,211 E126G probably benign Het
R3hcc1l T A 19: 42,562,702 V46E probably damaging Het
Rap1gds1 G T 3: 138,957,479 H320N probably damaging Het
Sdhaf3 A G 6: 7,038,992 M105V probably damaging Het
Slc22a26 T A 19: 7,788,248 N345I probably benign Het
Sncaip T C 18: 52,894,955 I412T possibly damaging Het
Sorcs1 A T 19: 50,190,092 I864N probably damaging Het
Spag5 C T 11: 78,321,331 Q1062* probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Szrd1 A G 4: 141,139,746 probably benign Het
Tns2 C A 15: 102,107,796 probably benign Het
Trcg1 C A 9: 57,242,228 S361* probably null Het
Tshz3 T C 7: 36,769,158 F191L probably damaging Het
Ttc39a T C 4: 109,422,893 V124A probably damaging Het
Ttf1 T C 2: 29,074,011 I633T probably damaging Het
Zfp691 A G 4: 119,170,507 F176S probably damaging Het
Other mutations in Plcxd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01658:Plcxd2 APN 16 45965061 missense probably benign
IGL02011:Plcxd2 APN 16 45965091 missense probably damaging 0.96
IGL02079:Plcxd2 APN 16 45972343 missense probably benign 0.43
IGL03082:Plcxd2 APN 16 45965110 missense probably damaging 1.00
G1patch:Plcxd2 UTSW 16 45972125 missense probably damaging 0.98
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
R8500:Plcxd2 UTSW 16 45980586 missense probably damaging 1.00
Posted On2015-04-16