Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03246:Pnpla6'

414398

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 #

IGL03246

Quality Score

Status

Chromosome

Chromosomal Location

3565384-3594267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3581530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 601 (T601I)

Ref Sequence

ENSEMBL: ENSMUSP00000106699 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000004681
AA Change: T601I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000004681
Gene: ENSMUSG00000004565
AA Change: T601I

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
AA Change: T601I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000106699
Gene: ENSMUSG00000004565
AA Change: T601I

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: ENSMUST00000207941
AA Change: T629I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000208002
AA Change: T619I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 126,303,238 (GRCm39)	H392Q	probably benign	Het
Alox8	T	A	11: 69,076,841 (GRCm39)	I547L	probably damaging	Het
Capn13	T	C	17: 73,689,855 (GRCm39)	H52R	probably benign	Het
Cfap57	T	A	4: 118,433,842 (GRCm39)	I979L	probably benign	Het
Ctdnep1	T	C	11: 69,875,156 (GRCm39)		probably benign	Het
Ercc5	C	A	1: 44,206,241 (GRCm39)	P385T	probably damaging	Het
Fam98a	C	T	17: 75,845,848 (GRCm39)	M299I	probably damaging	Het
Flcn	A	T	11: 59,684,936 (GRCm39)	I505N	possibly damaging	Het
Fn1	G	A	1: 71,663,455 (GRCm39)	T1011I	possibly damaging	Het
Klhl28	T	C	12: 65,004,060 (GRCm39)	D151G	probably benign	Het
Klk13	T	A	7: 43,370,422 (GRCm39)	N28K	probably damaging	Het
Macc1	T	C	12: 119,410,420 (GRCm39)	V396A	probably benign	Het
Mageb11	C	A	X: 89,936,008 (GRCm39)	H87Q	probably benign	Het
Magi2	T	A	5: 20,563,948 (GRCm39)	I360K	probably damaging	Het
Myh7b	T	C	2: 155,459,792 (GRCm39)	I251T	probably damaging	Het
Naalad2	A	T	9: 18,296,395 (GRCm39)	I85K	possibly damaging	Het
Or5ae1	T	C	7: 84,565,919 (GRCm39)	C311R	probably benign	Het
Pbrm1	A	T	14: 30,832,506 (GRCm39)	M1490L	probably benign	Het
Pclo	C	T	5: 14,727,631 (GRCm39)		probably benign	Het
Pdcd6ip	T	C	9: 113,507,485 (GRCm39)	K357R	possibly damaging	Het
Pof1b	A	T	X: 111,557,817 (GRCm39)	N366K	probably benign	Het
Prr9	A	G	3: 92,030,286 (GRCm39)		probably benign	Het
Ptprz1	G	T	6: 22,986,159 (GRCm39)	A320S	probably damaging	Het
Ripor1	A	G	8: 106,342,490 (GRCm39)	Y187C	possibly damaging	Het
Rnf13	A	G	3: 57,676,471 (GRCm39)	E42G	probably damaging	Het
Sdf4	T	C	4: 156,085,154 (GRCm39)	V163A	probably benign	Het
Smc2	C	T	4: 52,440,301 (GRCm39)	Q16*	probably null	Het
Srsf3-ps	T	A	11: 98,516,119 (GRCm39)	R85*	probably null	Het
Tbck	T	A	3: 132,480,331 (GRCm39)	C737S	probably benign	Het
Tra2a	A	T	6: 49,226,019 (GRCm39)	Y140*	probably null	Het
Vcpip1	A	C	1: 9,816,182 (GRCm39)	L734V	probably benign	Het
Vmn1r87	G	A	7: 12,866,288 (GRCm39)		probably benign	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
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

2016-08-02