Incidental Mutation 'IGL00815:Pld5'
ID13046
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pld5
Ensembl Gene ENSMUSG00000055214
Gene Namephospholipase D family, member 5
SynonymsB230365F16Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00815
Quality Score
Status
Chromosome1
Chromosomal Location175962306-176275312 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 176140019 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 28 (D28A)
Ref Sequence ENSEMBL: ENSMUSP00000106797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065967] [ENSMUST00000111167] [ENSMUST00000125404]
Predicted Effect probably damaging
Transcript: ENSMUST00000065967
AA Change: D90A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214
AA Change: D90A

DomainStartEndE-ValueType
transmembrane domain 68 90 N/A INTRINSIC
PLDc 215 242 3.62e-3 SMART
Pfam:PLDc_3 245 421 2e-101 PFAM
PLDc 434 460 6.11e0 SMART
low complexity region 511 521 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111167
AA Change: D28A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214
AA Change: D28A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
PLDc 153 180 3.62e-3 SMART
PLDc 372 398 6.11e0 SMART
low complexity region 449 459 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000125404
AA Change: D90A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121428
Gene: ENSMUSG00000055214
AA Change: D90A

DomainStartEndE-ValueType
transmembrane domain 69 91 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156184
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adal A G 2: 121,151,218 probably benign Het
Arhgap20 A G 9: 51,849,413 N819D probably benign Het
Cenpe A G 3: 135,259,351 I2061V probably benign Het
Chrna4 T C 2: 181,029,391 I191V probably benign Het
Crim1 A G 17: 78,370,091 E907G probably damaging Het
Cyp2d9 T A 15: 82,456,375 D175E possibly damaging Het
Eml4 A G 17: 83,450,790 probably benign Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Fam3c A T 6: 22,318,948 D151E probably damaging Het
Far1 G A 7: 113,540,689 V115I probably benign Het
Gfap T C 11: 102,888,690 D427G possibly damaging Het
Hdac5 A G 11: 102,197,342 F934S probably damaging Het
Hyou1 A G 9: 44,385,146 E456G probably benign Het
Kl G A 5: 150,980,850 E356K possibly damaging Het
Morc1 T C 16: 48,460,692 I198T possibly damaging Het
Mroh9 C T 1: 163,039,131 V679M probably damaging Het
Pigr T A 1: 130,834,430 M1K probably null Het
Pkn3 C A 2: 30,081,200 P260T possibly damaging Het
Plekhg2 G A 7: 28,360,869 Q1012* probably null Het
Ppp1ca A G 19: 4,193,144 I104V probably benign Het
Rad21l A G 2: 151,667,989 V64A probably damaging Het
Rbm20 A G 19: 53,815,517 D427G probably damaging Het
Rev3l A G 10: 39,859,153 I2792V possibly damaging Het
Sec23a C T 12: 58,992,282 C248Y possibly damaging Het
Sf3b1 A T 1: 54,996,931 probably benign Het
Slc30a1 A G 1: 191,909,079 N279S probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Spic T C 10: 88,675,867 N176D probably damaging Het
Tlk2 C T 11: 105,246,795 Q184* probably null Het
Tpm4 T C 8: 72,143,503 I107T probably benign Het
Ttll11 A T 2: 35,902,720 C186* probably null Het
Txlnb A T 10: 17,842,963 H514L probably damaging Het
Zfpm2 T A 15: 41,099,491 M183K probably benign Het
Other mutations in Pld5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Pld5 APN 1 175975473 missense probably damaging 1.00
IGL01067:Pld5 APN 1 176274879 utr 5 prime probably benign
IGL02174:Pld5 APN 1 176274744 missense possibly damaging 0.86
IGL02380:Pld5 APN 1 176140044 missense probably damaging 0.97
IGL02879:Pld5 APN 1 175970591 missense probably damaging 1.00
R0087:Pld5 UTSW 1 175984459 missense probably damaging 0.98
R0135:Pld5 UTSW 1 175970589 missense probably damaging 1.00
R0144:Pld5 UTSW 1 175970541 missense probably benign 0.00
R0362:Pld5 UTSW 1 175975580 nonsense probably null
R0453:Pld5 UTSW 1 176089956 missense possibly damaging 0.75
R0454:Pld5 UTSW 1 176274729 missense probably benign 0.00
R0722:Pld5 UTSW 1 175975515 missense probably benign 0.34
R0751:Pld5 UTSW 1 176044896 missense probably damaging 0.98
R0785:Pld5 UTSW 1 175975452 splice site probably benign
R1184:Pld5 UTSW 1 176044896 missense probably damaging 0.98
R1501:Pld5 UTSW 1 175975521 missense probably benign 0.36
R1644:Pld5 UTSW 1 175975626 missense possibly damaging 0.86
R2012:Pld5 UTSW 1 175964013 missense probably benign 0.27
R2426:Pld5 UTSW 1 175963976 missense probably benign
R3508:Pld5 UTSW 1 175994037 missense probably damaging 1.00
R3917:Pld5 UTSW 1 175963938 missense probably benign 0.00
R4207:Pld5 UTSW 1 175993875 missense probably damaging 1.00
R4373:Pld5 UTSW 1 176140017 missense probably damaging 1.00
R4828:Pld5 UTSW 1 176274867 missense probably benign 0.06
R4831:Pld5 UTSW 1 176274884 utr 5 prime probably benign
R5861:Pld5 UTSW 1 176090005 missense probably damaging 1.00
R6182:Pld5 UTSW 1 176044854 missense probably benign 0.35
R6191:Pld5 UTSW 1 175970534 missense probably benign 0.04
R6246:Pld5 UTSW 1 175963909 nonsense probably null
R6737:Pld5 UTSW 1 176090022 missense probably damaging 1.00
R7082:Pld5 UTSW 1 176089876 missense probably benign 0.21
R7164:Pld5 UTSW 1 176213621 start codon destroyed probably null 0.00
R7237:Pld5 UTSW 1 176274735 missense possibly damaging 0.79
R7635:Pld5 UTSW 1 175993850 critical splice donor site probably null
R7805:Pld5 UTSW 1 176044914 missense probably damaging 1.00
R7967:Pld5 UTSW 1 176274698 missense probably benign 0.03
R8038:Pld5 UTSW 1 176044897 missense probably benign 0.19
X0004:Pld5 UTSW 1 176261522 critical splice acceptor site probably null
Posted On2012-12-06