Mutagenetix > Incidental Mutation

Incidental Mutation 'R7513:Pnpla1'

582258

Institutional Source

Beutler Lab

Gene Symbol

Pnpla1

Ensembl Gene

ENSMUSG00000043286

Gene Name

patatin-like phospholipase domain containing 1

Synonyms

MMRRC Submission

045586-MU

Accession Numbers

Essential gene?

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

Stock #

R7513 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29077385-29109283 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 29077781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110385 (fasta)

Gene Model

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

AlphaFold

Q3V1D5

Predicted Effect

probably benign
Transcript: ENSMUST00000056866

SMART Domains

Protein: ENSMUSP00000050123
Gene: ENSMUSG00000043286

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

probably benign
Transcript: ENSMUST00000114737

SMART Domains

Protein: ENSMUSP00000110385
Gene: ENSMUSG00000043286

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: 99.9%
10x: 99.6%
20x: 98.7%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,765,771 (GRCm39)	W694*	probably null	Het
Accs	T	C	2: 93,670,437 (GRCm39)	N256S	possibly damaging	Het
Agmo	C	T	12: 37,294,352 (GRCm39)	T100I	probably benign	Het
Alox8	T	C	11: 69,078,670 (GRCm39)	D341G	probably benign	Het
Apol7c	T	A	15: 77,409,911 (GRCm39)	E345V	possibly damaging	Het
Arl5a	A	G	2: 52,302,157 (GRCm39)	F86L	possibly damaging	Het
AU040320	A	G	4: 126,686,057 (GRCm39)	E211G	probably benign	Het
B020011L13Rik	T	A	1: 117,729,149 (GRCm39)	C219S	probably damaging	Het
Btaf1	T	A	19: 36,955,803 (GRCm39)	L579Q	probably benign	Het
Cd84	T	A	1: 171,712,185 (GRCm39)	V267E	probably benign	Het
Cdcp3	G	A	7: 130,873,800 (GRCm39)	G1709R	unknown	Het
Clec11a	T	C	7: 43,955,780 (GRCm39)	E89G	probably benign	Het
Csrnp2	C	A	15: 100,380,297 (GRCm39)	E331D	probably benign	Het
Cyp2d12	C	A	15: 82,442,621 (GRCm39)	H355N	probably benign	Het
Ddx24	C	A	12: 103,385,365 (GRCm39)	G413*	probably null	Het
Dhx38	G	A	8: 110,287,221 (GRCm39)	P249L	probably benign	Het
Dip2a	A	T	10: 76,149,069 (GRCm39)	M233K	probably benign	Het
Dip2b	T	A	15: 100,105,629 (GRCm39)		probably null	Het
Dmbt1	T	C	7: 130,692,242 (GRCm39)	S1003P	unknown	Het
Dna2	A	G	10: 62,807,747 (GRCm39)	D1033G	probably benign	Het
Dnah5	T	C	15: 28,370,561 (GRCm39)	S2834P	probably benign	Het
Dnah7b	T	G	1: 46,163,506 (GRCm39)	S437A	probably benign	Het
Eif5	A	T	12: 111,506,686 (GRCm39)	I93F	probably damaging	Het
Fbxo47	A	G	11: 97,747,055 (GRCm39)	F337S	probably damaging	Het
Helz	T	C	11: 107,546,941 (GRCm39)	I1086T	probably damaging	Het
Ifi208	A	T	1: 173,523,220 (GRCm39)	R497*	probably null	Het
Igfn1	T	G	1: 135,887,705 (GRCm39)	D2453A	probably damaging	Het
Ighg2c	A	T	12: 113,252,471 (GRCm39)	L27Q		Het
Jak1	C	T	4: 101,048,848 (GRCm39)	C10Y	probably damaging	Het
Kif7	T	A	7: 79,360,776 (GRCm39)	N200Y	possibly damaging	Het
Ktn1	G	C	14: 47,901,541 (GRCm39)	A100P	possibly damaging	Het
Lrsam1	T	C	2: 32,843,497 (GRCm39)	D136G	probably benign	Het
Man2c1	T	C	9: 57,046,683 (GRCm39)	L648P	probably benign	Het
Mki67	T	C	7: 135,294,952 (GRCm39)	I3116V	probably benign	Het
Mmp10	A	T	9: 7,508,128 (GRCm39)	D418V	probably damaging	Het
Mrpl24	A	T	3: 87,829,734 (GRCm39)	T107S	probably benign	Het
Mycbpap	T	A	11: 94,394,382 (GRCm39)	D296V	probably damaging	Het
Mycn	C	A	12: 12,989,743 (GRCm39)	A218S	probably benign	Het
Myo1f	G	T	17: 33,794,788 (GRCm39)	W9C	probably damaging	Het
Nckap1	T	A	2: 80,332,635 (GRCm39)	K1074N	possibly damaging	Het
Neb	T	C	2: 52,099,552 (GRCm39)	D4766G	possibly damaging	Het
Nhsl1	T	C	10: 18,399,700 (GRCm39)	S275P	probably damaging	Het
Or2d3c	A	G	7: 106,526,483 (GRCm39)	F61S	possibly damaging	Het
Or5k16	T	A	16: 58,736,295 (GRCm39)	K236N	probably damaging	Het
Pam	G	A	1: 97,780,910 (GRCm39)	P514S	possibly damaging	Het
Pcdha4	C	T	18: 37,086,392 (GRCm39)	L192F	probably damaging	Het
Per1	T	A	11: 68,996,397 (GRCm39)	D800E	probably benign	Het
Plcg2	C	A	8: 118,306,592 (GRCm39)	N315K	probably damaging	Het
Plxnb2	T	A	15: 89,042,525 (GRCm39)		probably null	Het
Pptc7	A	T	5: 122,446,192 (GRCm39)		probably null	Het
Psg26	G	T	7: 18,209,225 (GRCm39)	S394R	probably benign	Het
Psmc1	C	A	12: 100,081,773 (GRCm39)	T125K	probably benign	Het
Ptgis	T	A	2: 167,067,203 (GRCm39)	M125L	probably benign	Het
Rbms1	A	G	2: 60,589,165 (GRCm39)	Y323H	probably damaging	Het
Rgl2	G	A	17: 34,151,529 (GRCm39)	R191Q	probably benign	Het
Sirpb1a	G	A	3: 15,476,503 (GRCm39)	T98I	possibly damaging	Het
Sirpb1b	C	A	3: 15,607,200 (GRCm39)	E361*	probably null	Het
Slc13a4	A	T	6: 35,260,272 (GRCm39)		probably null	Het
Spag9	T	C	11: 94,002,909 (GRCm39)	S1140P	probably damaging	Het
Spata31e4	T	A	13: 50,856,909 (GRCm39)	I849N	probably benign	Het
Tas2r140	A	G	6: 40,469,084 (GRCm39)	N305D	probably damaging	Het
Tenm2	G	A	11: 35,942,727 (GRCm39)	A1314V	probably benign	Het
Tgm3	A	G	2: 129,866,324 (GRCm39)	T81A	probably benign	Het
Timeless	T	C	10: 128,085,399 (GRCm39)	V839A	probably damaging	Het
Tmem132a	A	G	19: 10,837,492 (GRCm39)	I606T	probably damaging	Het
Tox	T	A	4: 6,741,507 (GRCm39)	M158L	probably benign	Het
Trpc2	A	T	7: 101,739,275 (GRCm39)	M549L	probably damaging	Het
Trpm5	C	T	7: 142,635,572 (GRCm39)	R600Q	possibly damaging	Het
Trpv1	A	G	11: 73,131,367 (GRCm39)	N302D	probably damaging	Het
Ttn	C	T	2: 76,681,940 (GRCm39)	R1019H		Het
Ttn	G	T	2: 76,775,307 (GRCm39)	H1958N	unknown	Het
Usp32	A	T	11: 84,917,938 (GRCm39)	Y769*	probably null	Het
Vim	A	T	2: 13,583,443 (GRCm39)	Q255L	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,994 (GRCm39)	H233R	probably benign	Het
Xirp2	T	A	2: 67,341,108 (GRCm39)	H1116Q	possibly damaging	Het
Zc3h18	G	T	8: 123,134,993 (GRCm39)	R580L	unknown	Het
Zfp267	T	A	3: 36,218,792 (GRCm39)	F272I	possibly damaging	Het
Zfp442	A	T	2: 150,250,676 (GRCm39)	C409S	unknown	Het
Zfy1	A	T	Y: 759,852 (GRCm39)	I20K	unknown	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
R7444:Pnpla1	UTSW	17	29,097,455 (GRCm39)	missense	possibly damaging	0.95
R7507:Pnpla1	UTSW	17	29,095,791 (GRCm39)	missense	probably damaging	1.00
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'- TGCCCATGACTCTAAGGACTG -3'
(R):5'- CAGGGTCTGTTCTGAGAAGC -3'

Sequencing Primer
(F):5'- GCCCATGACTCTAAGGACTGTCTAC -3'
(R):5'- ACGTCCCTGCAAAGCGATG -3'

Posted On

2019-10-17