Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03286:Pnpla6'

415717

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pnpla6

Ensembl Gene

ENSMUSG00000004565

Gene Name

patatin-like phospholipase domain containing 6

Synonyms

Nte, Swiss-cheese, MSws

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

3515384-3544267 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3531473 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 582 (T582K)

Ref Sequence

ENSEMBL: ENSMUSP00000106699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004681] [ENSMUST00000111070] [ENSMUST00000207941] [ENSMUST00000208002]

Predicted Effect

probably damaging
Transcript: ENSMUST00000004681
AA Change: T582K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004681
Gene: ENSMUSG00000004565
AA Change: T582K

Domain	Start	End	E-Value	Type
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: T582K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106699
Gene: ENSMUSG00000004565
AA Change: T582K

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000207299

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207941
AA Change: T610K

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000208002
AA Change: T600K

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,049,384	G110S	probably benign	Het
Arhgap32	T	C	9: 32,259,520	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,077,659	D147G	probably benign	Het
Calcoco2	A	G	11: 96,103,272	V116A	possibly damaging	Het
Chd5	A	T	4: 152,385,495	M1842L	probably benign	Het
Comt	T	C	16: 18,411,740	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,175,153	I175M	probably benign	Het
Dnah6	A	T	6: 73,083,085	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,966,616	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,502,262	D258G	probably damaging	Het
Eml5	T	C	12: 98,860,503	D630G	probably damaging	Het
Ext2	C	T	2: 93,707,272	V590M	probably damaging	Het
Fchsd2	T	C	7: 101,259,775		probably null	Het
Gm13272	A	G	4: 88,780,349	Q167R	probably benign	Het
Gm21834	A	G	17: 57,741,927	V98A	possibly damaging	Het
Grid1	T	A	14: 35,520,685		probably benign	Het
H2-DMa	T	A	17: 34,137,109		probably null	Het
Ighv5-17	T	G	12: 113,859,177	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261	T144A	probably benign	Het
Ipo9	A	G	1: 135,407,078		probably benign	Het
Itga4	A	T	2: 79,289,362	Y504F	probably damaging	Het
Krt5	A	G	15: 101,707,548	F544S	unknown	Het
Larp4	A	G	15: 99,986,086	Y67C	probably damaging	Het
Msh2	T	C	17: 87,682,667	M261T	possibly damaging	Het
Nav1	A	T	1: 135,454,536	C1367S	probably benign	Het
Nox4	T	A	7: 87,370,141		probably benign	Het
Noxa1	A	G	2: 25,085,720		probably null	Het
Olfr1450	A	C	19: 12,954,168	Y193S	probably benign	Het
Olfr414	A	C	1: 174,431,177	I250L	probably benign	Het
Pde4d	T	A	13: 109,954,506		probably benign	Het
Pdlim2	C	T	14: 70,174,476	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,634,347	S262P	possibly damaging	Het
Rap1b	A	T	10: 117,818,575	L120*	probably null	Het
Rft1	C	T	14: 30,661,366	T121I	probably benign	Het
Scn1a	A	G	2: 66,277,576	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,342,467	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,580,768	I85V	probably null	Het
Slfn8	A	T	11: 83,013,468	F365L	probably damaging	Het
Smcr8	T	A	11: 60,778,027		probably benign	Het
Sntb1	T	C	15: 55,792,046	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,344,414	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,747,832	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,589,659	G367D	probably damaging	Het
Stab1	C	T	14: 31,159,326		probably benign	Het
Tars2	T	C	3: 95,754,755		probably benign	Het
Tchhl1	C	T	3: 93,471,123	A378V	probably benign	Het
Tet3	A	T	6: 83,375,778	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,222,954	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,584,206	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,516,310	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,419,531	M141L	probably benign	Het

Other mutations in Pnpla6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL01732:Pnpla6	APN	8	3522616	missense	probably damaging	0.99
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
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
R7743:Pnpla6	UTSW	8	3536594	missense	possibly damaging	0.77
R7744:Pnpla6	UTSW	8	3531677	missense	probably benign	0.38
X0018:Pnpla6	UTSW	8	3517337	missense	probably damaging	1.00

Posted On

2016-08-02