Mutagenetix > Incidental Mutation

Incidental Mutation 'R0660:Pnpla6'

208435

Institutional Source

Beutler Lab

Gene Symbol

Pnpla6

Ensembl Gene

ENSMUSG00000004565

Gene Name

patatin-like phospholipase domain containing 6

Synonyms

Nte, Swiss-cheese, MSws

MMRRC Submission

038845-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0660 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

3565384-3594267 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 3572269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004681] [ENSMUST00000111070] [ENSMUST00000207146] [ENSMUST00000207424] [ENSMUST00000207941] [ENSMUST00000208002] [ENSMUST00000208762]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000004681

SMART Domains

Protein: ENSMUSP00000004681
Gene: ENSMUSG00000004565

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 benign
Transcript: ENSMUST00000111070

SMART Domains

Protein: ENSMUSP00000106699
Gene: ENSMUSG00000004565

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

probably benign
Transcript: ENSMUST00000207146

Predicted Effect

probably benign
Transcript: ENSMUST00000207424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207430

Predicted Effect

probably benign
Transcript: ENSMUST00000207941

Predicted Effect

probably benign
Transcript: ENSMUST00000208002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208006

Predicted Effect

probably benign
Transcript: ENSMUST00000208762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208315

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

100% (43/43)

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	T	C	17: 48,473,759 (GRCm39)	I53V	probably benign	Het
Abtb3	G	A	10: 85,224,234 (GRCm39)	A348T	possibly damaging	Het
Actr3	T	A	1: 125,336,304 (GRCm39)	I129L	probably benign	Het
Armcx2	G	A	X: 133,706,385 (GRCm39)	T416I	possibly damaging	Het
Aspm	T	A	1: 139,385,502 (GRCm39)	M382K	probably benign	Het
Cacna1b	A	G	2: 24,544,458 (GRCm39)	S1243P	probably damaging	Het
Cenpp	C	T	13: 49,618,173 (GRCm39)	R244Q	probably benign	Het
Dock2	A	G	11: 34,198,621 (GRCm39)	S1444P	probably damaging	Het
Fmo4	T	C	1: 162,637,417 (GRCm39)	N25S	probably benign	Het
Ipo8	A	T	6: 148,701,711 (GRCm39)	L466I	probably benign	Het
Or5p6	T	C	7: 107,630,822 (GRCm39)	T243A	probably damaging	Het
Prkcb	T	C	7: 122,024,182 (GRCm39)	V69A	possibly damaging	Het
Sars1	G	A	3: 108,338,789 (GRCm39)	L247F	probably damaging	Het
Slco1a4	T	C	6: 141,758,467 (GRCm39)	I515V	probably benign	Het
Tanc1	A	T	2: 59,674,228 (GRCm39)	K1778*	probably null	Het
Zkscan3	A	T	13: 21,572,630 (GRCm39)	I167N	probably damaging	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
IGL00820:Pnpla6	APN	8	3,582,358 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- CGGTTATTACTGGCATGAGTCGGAG -3'
(R):5'- AGCAATAAGAACTGCCTGGCCC -3'

Sequencing Primer
(F):5'- GCCCCTTGTCTCAGGATG -3'
(R):5'- CCGGGATAAGCTTTGCCAC -3'

Posted On

2014-06-26