Mutagenetix > Incidental Mutation

Incidental Mutation 'R7444:Pnpla1'

577193

Institutional Source

Beutler Lab

Gene Symbol

Pnpla1

Ensembl Gene

ENSMUSG00000043286

Gene Name

patatin-like phospholipase domain containing 1

Synonyms

MMRRC Submission

045520-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.296) question?

Stock #

R7444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29077385-29109283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29097455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 207 (I207T)

Ref Sequence

ENSEMBL: ENSMUSP00000050123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056866] [ENSMUST00000114737]

AlphaFold

Q3V1D5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056866
AA Change: I207T

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050123
Gene: ENSMUSG00000043286
AA Change: I207T

Domain	Start	End	E-Value	Type
Pfam:Patatin	16	183	1.4e-14	PFAM
low complexity region	443	454	N/A	INTRINSIC
low complexity region	462	479	N/A	INTRINSIC
low complexity region	549	564	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114737
AA Change: I207T

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110385
Gene: ENSMUSG00000043286
AA Change: I207T

Domain	Start	End	E-Value	Type
Pfam:Patatin	16	183	9.3e-15	PFAM
low complexity region	443	454	N/A	INTRINSIC
low complexity region	462	479	N/A	INTRINSIC
low complexity region	549	564	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality; shiny, red, dry, wrinkled and non-elastic skin; reduced size and weight at birth; fail to suckle; and exhibit skin defects associated with a lack of omega-O-acylceramides. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,984,787 (GRCm39)	M2024V	probably benign	Het
Ahnak2	T	A	12: 112,745,831 (GRCm39)	Q1673L		Het
Atic	G	T	1: 71,602,946 (GRCm39)	V107L	probably benign	Het
B2m	A	G	2: 121,981,416 (GRCm39)	N44D	probably damaging	Het
Bud13	A	G	9: 46,209,799 (GRCm39)	D636G	probably damaging	Het
Cenpk	T	C	13: 104,386,025 (GRCm39)	*307Q	probably null	Het
Cep68	A	G	11: 20,189,438 (GRCm39)	S525P	probably benign	Het
Clca3a1	A	G	3: 144,733,193 (GRCm39)	L105P	probably damaging	Het
Cntnap5a	A	T	1: 116,220,079 (GRCm39)	M630L	probably benign	Het
Cpb2	A	G	14: 75,520,782 (GRCm39)	Y399C	probably damaging	Het
Dars2	G	T	1: 160,874,454 (GRCm39)	P412T	possibly damaging	Het
E2f8	A	T	7: 48,517,927 (GRCm39)	I665N	probably damaging	Het
Epha4	A	T	1: 77,364,553 (GRCm39)	I652N	probably damaging	Het
Ermn	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	2: 57,938,079 (GRCm39)		probably benign	Het
Flrt3	T	C	2: 140,502,387 (GRCm39)	T414A	probably benign	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Fosb	T	C	7: 19,041,199 (GRCm39)	D98G	possibly damaging	Het
Gm5773	T	C	3: 93,680,850 (GRCm39)	L174S	probably damaging	Het
Hectd3	T	A	4: 116,854,124 (GRCm39)	V258E	possibly damaging	Het
Inf2	T	A	12: 112,571,821 (GRCm39)	W617R	unknown	Het
Irf7	T	A	7: 140,843,599 (GRCm39)	I358F	probably damaging	Het
Lipo3	A	G	19: 33,535,663 (GRCm39)		probably null	Het
Lrig2	A	T	3: 104,404,829 (GRCm39)	L93*	probably null	Het
Lzts1	C	T	8: 69,588,331 (GRCm39)	V542M	probably damaging	Het
Mefv	T	A	16: 3,533,386 (GRCm39)	H295L	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nat8f6	G	C	6: 85,786,112 (GRCm39)	S12R	probably benign	Het
Nipal4	G	T	11: 46,057,062 (GRCm39)	N14K	probably benign	Het
Nlrp4c	T	A	7: 6,095,595 (GRCm39)	C824*	probably null	Het
Npat	T	C	9: 53,460,210 (GRCm39)	S53P	probably damaging	Het
Nrxn3	A	G	12: 89,477,464 (GRCm39)	E549G	probably damaging	Het
Or10a5	T	C	7: 106,635,554 (GRCm39)	L64P	probably damaging	Het
Or12e8	T	A	2: 87,188,444 (GRCm39)	L219I	possibly damaging	Het
Or1r1	T	C	11: 73,874,576 (GRCm39)	N286S	probably damaging	Het
Or4a80	T	C	2: 89,583,103 (GRCm39)	K23R	probably benign	Het
Or4f62	A	T	2: 111,987,060 (GRCm39)	I255F	probably damaging	Het
Or5p55	T	A	7: 107,566,811 (GRCm39)	V69E	probably damaging	Het
Or6c6b	T	C	10: 129,147,559 (GRCm39)	M61T	probably benign	Het
Or6z6	C	A	7: 6,490,919 (GRCm39)	W311L	probably benign	Het
Pcdhb11	T	A	18: 37,555,672 (GRCm39)	I334K	probably damaging	Het
Pcdhb4	T	C	18: 37,442,505 (GRCm39)	L605P	probably damaging	Het
Pced1a	G	T	2: 130,263,979 (GRCm39)	H224Q	probably damaging	Het
Pde6b	C	A	5: 108,575,008 (GRCm39)	S623*	probably null	Het
Pgr	T	C	9: 8,946,883 (GRCm39)	L708P	probably damaging	Het
Prkag3	A	T	1: 74,786,425 (GRCm39)	D173E	probably benign	Het
Prrt4	A	G	6: 29,176,516 (GRCm39)	F270L	probably benign	Het
Ptdss2	C	A	7: 140,732,997 (GRCm39)	P260Q	possibly damaging	Het
Rftn1	T	A	17: 50,354,435 (GRCm39)	N309I	probably damaging	Het
Rgs12	T	C	5: 35,183,287 (GRCm39)	V978A	possibly damaging	Het
Rnf111	T	C	9: 70,348,125 (GRCm39)	Y816C	probably damaging	Het
Rnf208	C	T	2: 25,133,326 (GRCm39)	P7S	probably damaging	Het
Rnf24	T	C	2: 131,155,215 (GRCm39)	D4G	probably damaging	Het
Ryr2	T	A	13: 11,570,349 (GRCm39)	I4925L	probably benign	Het
S1pr5	A	T	9: 21,156,378 (GRCm39)	V16D	possibly damaging	Het
Scgb1b24	A	G	7: 33,443,566 (GRCm39)	D75G	possibly damaging	Het
Setdb2	A	T	14: 59,660,794 (GRCm39)	C116*	probably null	Het
Sh3rf2	G	A	18: 42,234,604 (GRCm39)	R129Q	probably damaging	Het
Spata31d1d	C	T	13: 59,875,007 (GRCm39)	V843I	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Tecrl	T	A	5: 83,502,915 (GRCm39)		probably benign	Het
Tex15	T	A	8: 34,066,590 (GRCm39)	S2007T	possibly damaging	Het
Tomm7	C	A	5: 24,049,155 (GRCm39)		probably benign	Het
Trpv1	A	C	11: 73,135,030 (GRCm39)	N409T	possibly damaging	Het
Try5	T	A	6: 41,288,299 (GRCm39)	Y218F	probably benign	Het
Tspan5	A	T	3: 138,603,883 (GRCm39)	I196F	possibly damaging	Het
Wdhd1	A	T	14: 47,489,405 (GRCm39)	C709*	probably null	Het

Other mutations in Pnpla1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Pnpla1	APN	17	29,096,416 (GRCm39)	missense	probably damaging	1.00
IGL01713:Pnpla1	APN	17	29,100,579 (GRCm39)	missense	possibly damaging	0.46
IGL02972:Pnpla1	APN	17	29,105,921 (GRCm39)	missense	probably null	0.65
IGL03350:Pnpla1	APN	17	29,095,966 (GRCm39)	missense	probably damaging	1.00
R0335:Pnpla1	UTSW	17	29,105,852 (GRCm39)	missense	possibly damaging	0.48
R1727:Pnpla1	UTSW	17	29,097,508 (GRCm39)	missense	probably benign	0.30
R3620:Pnpla1	UTSW	17	29,096,362 (GRCm39)	missense	probably damaging	1.00
R3621:Pnpla1	UTSW	17	29,096,362 (GRCm39)	missense	probably damaging	1.00
R4831:Pnpla1	UTSW	17	29,097,518 (GRCm39)	missense	probably benign	0.28
R5011:Pnpla1	UTSW	17	29,104,558 (GRCm39)	missense	possibly damaging	0.57
R5042:Pnpla1	UTSW	17	29,100,021 (GRCm39)	missense	probably benign
R5068:Pnpla1	UTSW	17	29,098,397 (GRCm39)	splice site	probably null
R5690:Pnpla1	UTSW	17	29,097,346 (GRCm39)	missense	probably damaging	1.00
R5886:Pnpla1	UTSW	17	29,095,837 (GRCm39)	missense	possibly damaging	0.63
R6269:Pnpla1	UTSW	17	29,100,342 (GRCm39)	missense	probably benign	0.00
R6270:Pnpla1	UTSW	17	29,100,342 (GRCm39)	missense	probably benign	0.00
R6271:Pnpla1	UTSW	17	29,100,342 (GRCm39)	missense	probably benign	0.00
R6272:Pnpla1	UTSW	17	29,100,342 (GRCm39)	missense	probably benign	0.00
R6369:Pnpla1	UTSW	17	29,097,455 (GRCm39)	missense	probably damaging	1.00
R6611:Pnpla1	UTSW	17	29,100,021 (GRCm39)	missense	probably benign
R6962:Pnpla1	UTSW	17	29,097,455 (GRCm39)	missense	probably damaging	1.00
R7359:Pnpla1	UTSW	17	29,100,159 (GRCm39)	missense	probably benign	0.25
R7400:Pnpla1	UTSW	17	29,077,950 (GRCm39)	missense	probably damaging	1.00
R7507:Pnpla1	UTSW	17	29,095,791 (GRCm39)	missense	probably damaging	1.00
R7513:Pnpla1	UTSW	17	29,077,781 (GRCm39)	start gained	probably benign
R8134:Pnpla1	UTSW	17	29,097,443 (GRCm39)	missense	probably damaging	0.99
R8271:Pnpla1	UTSW	17	29,100,579 (GRCm39)	missense	probably benign	0.26
R8353:Pnpla1	UTSW	17	29,077,873 (GRCm39)	missense	probably benign	0.20
R8453:Pnpla1	UTSW	17	29,077,873 (GRCm39)	missense	probably benign	0.20
R8880:Pnpla1	UTSW	17	29,098,438 (GRCm39)	missense	probably damaging	1.00
R9471:Pnpla1	UTSW	17	29,099,973 (GRCm39)	missense	probably benign	0.16
X0019:Pnpla1	UTSW	17	29,100,041 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ACCACCATTTATCTTGGGGAC -3'
(R):5'- AAAACCATGGGCCCTCTGAG -3'

Sequencing Primer
(F):5'- GCAAAAGGTGTCTCTTCCATGGC -3'
(R):5'- CTCTGAGGGGAGAGGCAC -3'

Posted On

2019-10-07