Incidental Mutation 'IGL01732:Pnpla6'
ID105529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnpla6
Ensembl Gene ENSMUSG00000004565
Gene Namepatatin-like phospholipase domain containing 6
SynonymsNte, Swiss-cheese, MSws
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01732
Quality Score
Status
Chromosome8
Chromosomal Location3515384-3544267 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 3522616 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 279 (T279N)
Ref Sequence ENSEMBL: ENSMUSP00000106699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004681] [ENSMUST00000111070] [ENSMUST00000207146] [ENSMUST00000207424] [ENSMUST00000207941] [ENSMUST00000208002] [ENSMUST00000208762]
Predicted Effect probably damaging
Transcript: ENSMUST00000004681
AA Change: T279N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000004681
Gene: ENSMUSG00000004565
AA Change: T279N

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
low complexity region 67 83 N/A INTRINSIC
low complexity region 87 101 N/A INTRINSIC
cNMP 147 272 3.17e-13 SMART
cNMP 465 584 3.17e-4 SMART
cNMP 587 703 3.45e-5 SMART
Blast:cNMP 742 777 7e-11 BLAST
Pfam:Patatin 933 1099 5e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111070
AA Change: T279N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106699
Gene: ENSMUSG00000004565
AA Change: T279N

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
low complexity region 67 83 N/A INTRINSIC
low complexity region 87 101 N/A INTRINSIC
cNMP 147 272 3.17e-13 SMART
cNMP 465 584 3.17e-4 SMART
cNMP 587 703 3.45e-5 SMART
Blast:cNMP 742 777 7e-11 BLAST
Pfam:Patatin 933 1099 1.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207146
Predicted Effect probably benign
Transcript: ENSMUST00000207424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207430
Predicted Effect possibly damaging
Transcript: ENSMUST00000207941
AA Change: T311N

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208002
AA Change: T301N

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208315
Predicted Effect probably benign
Transcript: ENSMUST00000208762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208851
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality during early gestation. Conditional inactivation in the central nervous system leads to neurodegeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh4a1 G T 4: 139,642,160 E341* probably null Het
Alpk3 A G 7: 81,057,642 R5G unknown Het
Arhgef10l C T 4: 140,580,415 V113M probably damaging Het
Brca2 T A 5: 150,542,387 I1872K probably benign Het
Cdk17 C A 10: 93,218,045 P134T probably benign Het
Cerk A G 15: 86,146,316 S35P possibly damaging Het
Cfap126 T C 1: 171,126,736 V174A possibly damaging Het
Cfhr1 T C 1: 139,550,868 T255A probably benign Het
Clcn1 A G 6: 42,310,672 probably benign Het
Copz1 A G 15: 103,297,891 E151G probably benign Het
Cubn G A 2: 13,489,936 Q101* probably null Het
Eri1 T C 8: 35,491,243 E12G possibly damaging Het
Fam71f2 A T 6: 29,285,980 H146L probably damaging Het
Fut9 A G 4: 25,619,867 F316L possibly damaging Het
Gm973 A G 1: 59,630,237 I816V probably benign Het
Itln1 A G 1: 171,534,780 M11T probably benign Het
Klc2 C T 19: 5,109,797 R458Q probably damaging Het
Lrrc8b A T 5: 105,485,960 E766V probably damaging Het
Mmadhc A T 2: 50,281,185 I205N probably damaging Het
Myo10 A G 15: 25,732,063 I342V probably benign Het
Ncapg T A 5: 45,693,853 V796D probably damaging Het
Olfm3 A C 3: 115,097,000 D134A possibly damaging Het
Olfr402 T C 11: 74,155,453 C100R probably damaging Het
Olfr574 T A 7: 102,949,239 I248N probably damaging Het
Olfr661 T C 7: 104,688,336 M107T possibly damaging Het
Phldb3 A G 7: 24,627,326 E593G probably damaging Het
Plcg1 T A 2: 160,747,779 D74E probably damaging Het
Plekhm3 T C 1: 64,922,248 D283G probably benign Het
Prkcq G A 2: 11,260,833 probably benign Het
Rbm11 G A 16: 75,600,622 A147T probably benign Het
Rnf103 A G 6: 71,510,382 K666E probably damaging Het
Selenos A G 7: 66,080,389 Y45C probably damaging Het
Sept11 A G 5: 93,161,226 Y255C probably damaging Het
Serpinb3c T C 1: 107,271,972 H273R probably benign Het
Slc35f2 A G 9: 53,806,625 D141G probably damaging Het
Sntg2 A T 12: 30,312,649 Y33N probably damaging Het
Snx19 C A 9: 30,462,353 T904K probably damaging Het
Tenm4 A G 7: 96,895,509 Y2244C probably damaging Het
Tescl A G 7: 24,333,447 V151A probably damaging Het
Tnrc18 C T 5: 142,772,061 V902M unknown Het
Trmt13 A G 3: 116,581,464 L465S probably damaging Het
Ube2j2 T G 4: 155,957,331 V249G probably damaging Het
Zan T C 5: 137,393,011 K4737R unknown Het
Zc3h6 T C 2: 129,011,875 I430T probably damaging Het
Zfp750 G A 11: 121,512,993 S352L probably benign Het
Zfp819 A G 7: 43,616,422 K34E probably benign Het
Other mutations in Pnpla6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Pnpla6 APN 8 3523808 missense probably damaging 1.00
IGL00820:Pnpla6 APN 8 3532358 missense possibly damaging 0.95
IGL00839:Pnpla6 APN 8 3542299 missense probably benign 0.05
IGL01973:Pnpla6 APN 8 3517619 missense probably damaging 1.00
IGL02267:Pnpla6 APN 8 3517327 missense probably benign 0.00
IGL03246:Pnpla6 APN 8 3531530 missense probably benign 0.01
IGL03286:Pnpla6 APN 8 3531473 missense probably damaging 0.99
I0000:Pnpla6 UTSW 8 3542322 missense probably benign
R0141:Pnpla6 UTSW 8 3532117 critical splice donor site probably null
R0180:Pnpla6 UTSW 8 3524250 critical splice acceptor site probably null
R0377:Pnpla6 UTSW 8 3541501 missense probably damaging 1.00
R0563:Pnpla6 UTSW 8 3523333 missense possibly damaging 0.51
R0660:Pnpla6 UTSW 8 3522269 unclassified probably benign
R0786:Pnpla6 UTSW 8 3523317 missense probably benign
R0827:Pnpla6 UTSW 8 3517618 missense possibly damaging 0.71
R0882:Pnpla6 UTSW 8 3517081 missense probably damaging 1.00
R1512:Pnpla6 UTSW 8 3535459 splice site probably benign
R1552:Pnpla6 UTSW 8 3522403 missense probably damaging 1.00
R1609:Pnpla6 UTSW 8 3517135 missense probably damaging 1.00
R1770:Pnpla6 UTSW 8 3534634 missense possibly damaging 0.94
R1779:Pnpla6 UTSW 8 3541404 missense probably damaging 1.00
R1987:Pnpla6 UTSW 8 3542370 missense probably benign 0.00
R3079:Pnpla6 UTSW 8 3541512 missense probably benign 0.25
R3125:Pnpla6 UTSW 8 3534670 missense probably null 1.00
R4171:Pnpla6 UTSW 8 3543997 missense probably benign 0.09
R4281:Pnpla6 UTSW 8 3521513 missense probably damaging 1.00
R4674:Pnpla6 UTSW 8 3521412 missense probably damaging 1.00
R4776:Pnpla6 UTSW 8 3523818 missense probably benign 0.01
R4779:Pnpla6 UTSW 8 3522838 missense probably benign 0.00
R5114:Pnpla6 UTSW 8 3522613 missense probably damaging 0.98
R5459:Pnpla6 UTSW 8 3535829 missense probably benign 0.01
R5510:Pnpla6 UTSW 8 3521397 missense probably damaging 0.99
R5538:Pnpla6 UTSW 8 3531508 missense probably benign 0.01
R5664:Pnpla6 UTSW 8 3537478 missense probably damaging 0.98
R6063:Pnpla6 UTSW 8 3524156 missense probably benign 0.21
R6314:Pnpla6 UTSW 8 3521572 missense probably benign 0.39
R6321:Pnpla6 UTSW 8 3544015 missense probably benign
R6454:Pnpla6 UTSW 8 3537986 missense probably damaging 0.99
R6477:Pnpla6 UTSW 8 3536627 missense probably benign 0.00
R6524:Pnpla6 UTSW 8 3534519 splice site probably null
R6809:Pnpla6 UTSW 8 3534611 missense possibly damaging 0.72
R6975:Pnpla6 UTSW 8 3538068 missense probably damaging 1.00
R7293:Pnpla6 UTSW 8 3538068 missense probably damaging 1.00
R7389:Pnpla6 UTSW 8 3543981 nonsense probably null
R7520:Pnpla6 UTSW 8 3537508 missense probably damaging 1.00
R7666:Pnpla6 UTSW 8 3541591 missense probably benign 0.01
R7733:Pnpla6 UTSW 8 3522660 missense probably benign 0.01
X0018:Pnpla6 UTSW 8 3517337 missense probably damaging 1.00
Posted On2014-01-21