Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00820:Pnpla6'

13079

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00820

Quality Score

Status

Chromosome

Chromosomal Location

3565384-3594267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3582358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 693 (T693A)

Ref Sequence

ENSEMBL: ENSMUSP00000106699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004681] [ENSMUST00000111070] [ENSMUST00000207421] [ENSMUST00000207941] [ENSMUST00000208002]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004681
AA Change: T693A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000004681
Gene: ENSMUSG00000004565
AA Change: T693A

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

possibly damaging
Transcript: ENSMUST00000111070
AA Change: T693A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106699
Gene: ENSMUSG00000004565
AA Change: T693A

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

probably benign
Transcript: ENSMUST00000207421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207929

Predicted Effect

probably benign
Transcript: ENSMUST00000207941
AA Change: T721A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000208002
AA Change: T711A

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208914

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 105,083,878 (GRCm39)	I631F	probably benign	Het
Baiap3	T	C	17: 25,467,664 (GRCm39)	D314G	probably benign	Het
Ccl1	T	C	11: 82,068,914 (GRCm39)	E41G	possibly damaging	Het
Ephx1	T	C	1: 180,827,386 (GRCm39)	Y89C	possibly damaging	Het
Fbxw18	G	A	9: 109,522,437 (GRCm39)	T144I	probably damaging	Het
Galt	C	T	4: 41,758,570 (GRCm39)	A357V	probably benign	Het
Gfra1	T	C	19: 58,252,337 (GRCm39)		probably benign	Het
Hivep1	A	T	13: 42,337,294 (GRCm39)	I2458L	probably benign	Het
Itga8	A	G	2: 12,237,703 (GRCm39)	V339A	possibly damaging	Het
Klk1b8	T	C	7: 43,604,210 (GRCm39)	I226T	probably benign	Het
Mfsd6	C	T	1: 52,747,465 (GRCm39)	V467M	probably damaging	Het
Mrpl16	T	C	19: 11,751,777 (GRCm39)	V179A	probably benign	Het
Or52e19b	G	A	7: 103,032,672 (GRCm39)	T179I	probably damaging	Het
Ptpn2	A	C	18: 67,808,862 (GRCm39)	I318R	possibly damaging	Het
Slc34a1	A	G	13: 24,003,317 (GRCm39)	H285R	probably benign	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Spmip6	A	T	4: 41,507,178 (GRCm39)	L206Q	probably damaging	Het
Sptb	A	G	12: 76,679,251 (GRCm39)	L68P	probably damaging	Het
Stxbp6	G	A	12: 44,908,129 (GRCm39)	T163I	probably damaging	Het
Tex15	A	G	8: 34,069,034 (GRCm39)		probably benign	Het
Tti1	T	C	2: 157,850,888 (GRCm39)	E117G	probably damaging	Het
Ube4b	T	C	4: 149,437,378 (GRCm39)		probably benign	Het
Wipi1	A	C	11: 109,473,945 (GRCm39)		probably benign	Het
Zan	A	T	5: 137,384,626 (GRCm39)	C5133S	unknown	Het

Other mutations in Pnpla6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Pnpla6	APN	8	3,573,808 (GRCm39)	missense	probably damaging	1.00
IGL00839:Pnpla6	APN	8	3,592,299 (GRCm39)	missense	probably benign	0.05
IGL01732:Pnpla6	APN	8	3,572,616 (GRCm39)	missense	probably damaging	0.99
IGL01973:Pnpla6	APN	8	3,567,619 (GRCm39)	missense	probably damaging	1.00
IGL02267:Pnpla6	APN	8	3,567,327 (GRCm39)	missense	probably benign	0.00
IGL03246:Pnpla6	APN	8	3,581,530 (GRCm39)	missense	probably benign	0.01
IGL03286:Pnpla6	APN	8	3,581,473 (GRCm39)	missense	probably damaging	0.99
Immemorial	UTSW	8	3,581,677 (GRCm39)	missense	probably benign	0.38
Mammilary	UTSW	8	3,571,384 (GRCm39)	missense	probably benign	0.01
I0000:Pnpla6	UTSW	8	3,592,322 (GRCm39)	missense	probably benign
R0141:Pnpla6	UTSW	8	3,582,117 (GRCm39)	critical splice donor site	probably null
R0180:Pnpla6	UTSW	8	3,574,250 (GRCm39)	critical splice acceptor site	probably null
R0377:Pnpla6	UTSW	8	3,591,501 (GRCm39)	missense	probably damaging	1.00
R0563:Pnpla6	UTSW	8	3,573,333 (GRCm39)	missense	possibly damaging	0.51
R0660:Pnpla6	UTSW	8	3,572,269 (GRCm39)	unclassified	probably benign
R0786:Pnpla6	UTSW	8	3,573,317 (GRCm39)	missense	probably benign
R0827:Pnpla6	UTSW	8	3,567,618 (GRCm39)	missense	possibly damaging	0.71
R0882:Pnpla6	UTSW	8	3,567,081 (GRCm39)	missense	probably damaging	1.00
R1512:Pnpla6	UTSW	8	3,585,459 (GRCm39)	splice site	probably benign
R1552:Pnpla6	UTSW	8	3,572,403 (GRCm39)	missense	probably damaging	1.00
R1609:Pnpla6	UTSW	8	3,567,135 (GRCm39)	missense	probably damaging	1.00
R1770:Pnpla6	UTSW	8	3,584,634 (GRCm39)	missense	possibly damaging	0.94
R1779:Pnpla6	UTSW	8	3,591,404 (GRCm39)	missense	probably damaging	1.00
R1987:Pnpla6	UTSW	8	3,592,370 (GRCm39)	missense	probably benign	0.00
R3079:Pnpla6	UTSW	8	3,591,512 (GRCm39)	missense	probably benign	0.25
R3125:Pnpla6	UTSW	8	3,584,670 (GRCm39)	missense	probably null	1.00
R4171:Pnpla6	UTSW	8	3,593,997 (GRCm39)	missense	probably benign	0.09
R4281:Pnpla6	UTSW	8	3,571,513 (GRCm39)	missense	probably damaging	1.00
R4674:Pnpla6	UTSW	8	3,571,412 (GRCm39)	missense	probably damaging	1.00
R4776:Pnpla6	UTSW	8	3,573,818 (GRCm39)	missense	probably benign	0.01
R4779:Pnpla6	UTSW	8	3,572,838 (GRCm39)	missense	probably benign	0.00
R5114:Pnpla6	UTSW	8	3,572,613 (GRCm39)	missense	probably damaging	0.98
R5459:Pnpla6	UTSW	8	3,585,829 (GRCm39)	missense	probably benign	0.01
R5510:Pnpla6	UTSW	8	3,571,397 (GRCm39)	missense	probably damaging	0.99
R5538:Pnpla6	UTSW	8	3,581,508 (GRCm39)	missense	probably benign	0.01
R5664:Pnpla6	UTSW	8	3,587,478 (GRCm39)	missense	probably damaging	0.98
R6063:Pnpla6	UTSW	8	3,574,156 (GRCm39)	missense	probably benign	0.21
R6314:Pnpla6	UTSW	8	3,571,572 (GRCm39)	missense	probably benign	0.39
R6321:Pnpla6	UTSW	8	3,594,015 (GRCm39)	missense	probably benign
R6454:Pnpla6	UTSW	8	3,587,986 (GRCm39)	missense	probably damaging	0.99
R6477:Pnpla6	UTSW	8	3,586,627 (GRCm39)	missense	probably benign	0.00
R6524:Pnpla6	UTSW	8	3,584,519 (GRCm39)	splice site	probably null
R6809:Pnpla6	UTSW	8	3,584,611 (GRCm39)	missense	possibly damaging	0.72
R6975:Pnpla6	UTSW	8	3,588,068 (GRCm39)	missense	probably damaging	1.00
R7293:Pnpla6	UTSW	8	3,588,068 (GRCm39)	missense	probably damaging	1.00
R7389:Pnpla6	UTSW	8	3,593,981 (GRCm39)	nonsense	probably null
R7426:Pnpla6	UTSW	8	3,566,540 (GRCm39)	splice site	probably null
R7520:Pnpla6	UTSW	8	3,587,508 (GRCm39)	missense	probably damaging	1.00
R7666:Pnpla6	UTSW	8	3,591,591 (GRCm39)	missense	probably benign	0.01
R7733:Pnpla6	UTSW	8	3,572,660 (GRCm39)	missense	probably benign	0.01
R7743:Pnpla6	UTSW	8	3,586,594 (GRCm39)	missense	possibly damaging	0.77
R7744:Pnpla6	UTSW	8	3,581,677 (GRCm39)	missense	probably benign	0.38
R7923:Pnpla6	UTSW	8	3,581,737 (GRCm39)	nonsense	probably null
R7980:Pnpla6	UTSW	8	3,586,562 (GRCm39)	missense	probably damaging	0.97
R8141:Pnpla6	UTSW	8	3,571,384 (GRCm39)	missense	probably benign	0.01
R8191:Pnpla6	UTSW	8	3,592,382 (GRCm39)	missense	probably benign	0.12
R8251:Pnpla6	UTSW	8	3,582,399 (GRCm39)	missense	probably benign	0.29
R8881:Pnpla6	UTSW	8	3,581,489 (GRCm39)	missense	probably benign	0.00
R8917:Pnpla6	UTSW	8	3,567,637 (GRCm39)	missense	possibly damaging	0.50
R8939:Pnpla6	UTSW	8	3,571,319 (GRCm39)	missense	possibly damaging	0.86
R8988:Pnpla6	UTSW	8	3,567,401 (GRCm39)	missense	possibly damaging	0.51
R9037:Pnpla6	UTSW	8	3,592,379 (GRCm39)	nonsense	probably null
R9264:Pnpla6	UTSW	8	3,573,294 (GRCm39)	missense	probably benign
R9265:Pnpla6	UTSW	8	3,573,294 (GRCm39)	missense	probably benign
R9386:Pnpla6	UTSW	8	3,571,417 (GRCm39)	critical splice donor site	probably null
X0018:Pnpla6	UTSW	8	3,567,337 (GRCm39)	missense	probably damaging	1.00
Z1177:Pnpla6	UTSW	8	3,586,979 (GRCm39)	missense	possibly damaging	0.76

Posted On

2012-12-06