Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Pnpla1'

632195

Institutional Source

Beutler Lab

Gene Symbol

Pnpla1

Ensembl Gene

ENSMUSG00000043286

Gene Name

patatin-like phospholipase domain containing 1

Synonyms

MMRRC Submission

067562-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.360) question?

Stock #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29077385-29109283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29097443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 203 (D203G)

Ref Sequence

ENSEMBL: ENSMUSP00000050123 (fasta)

Gene Model

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

AlphaFold

Q3V1D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000056866
AA Change: D203G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050123
Gene: ENSMUSG00000043286
AA Change: D203G

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 damaging
Transcript: ENSMUST00000114737
AA Change: D203G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110385
Gene: ENSMUSG00000043286
AA Change: D203G

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: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 80,425,982 (GRCm39)	P265L	probably benign	Het
Adam20	A	G	8: 41,249,101 (GRCm39)	T404A	probably benign	Het
Anp32a	G	T	9: 62,284,863 (GRCm39)	R237L	unknown	Het
Ascc3	A	G	10: 50,643,554 (GRCm39)	D1835G	probably benign	Het
Atg9b	A	G	5: 24,590,220 (GRCm39)		probably null	Het
Bard1	A	T	1: 71,106,297 (GRCm39)	N443K	probably damaging	Het
Btnl1	A	G	17: 34,604,647 (GRCm39)	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,067,711 (GRCm39)	I487F		Het
Cadm4	A	G	7: 24,203,030 (GRCm39)	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,648,075 (GRCm39)	K128E	probably benign	Het
Casz1	C	T	4: 149,027,492 (GRCm39)	P1005S	probably damaging	Het
Cd38	C	A	5: 44,058,790 (GRCm39)	L135M	probably damaging	Het
Cdk20	A	G	13: 64,585,734 (GRCm39)	E244G	probably benign	Het
Cfap54	A	T	10: 92,714,378 (GRCm39)	V2667D	unknown	Het
Col11a1	A	G	3: 114,012,435 (GRCm39)	K1792E	unknown	Het
Cpne9	A	T	6: 113,272,003 (GRCm39)	D377V	probably benign	Het
Csmd1	A	T	8: 15,982,550 (GRCm39)	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,651,391 (GRCm39)	V222A	probably benign	Het
Frmpd2	T	C	14: 33,227,452 (GRCm39)	S277P	probably benign	Het
Herc2	C	T	7: 55,734,884 (GRCm39)	T158I	probably benign	Het
Hoxa4	G	T	6: 52,167,537 (GRCm39)	H215N	possibly damaging	Het
Hpd	G	T	5: 123,312,443 (GRCm39)	Q309K	probably benign	Het
Il20ra	A	G	10: 19,626,452 (GRCm39)	T159A	probably damaging	Het
Ints10	T	A	8: 69,255,638 (GRCm39)	Y209*	probably null	Het
Ints2	A	G	11: 86,103,486 (GRCm39)	I1190T	probably damaging	Het
Jhy	A	G	9: 40,872,188 (GRCm39)	V107A	probably null	Het
Kdm4d	C	T	9: 14,374,532 (GRCm39)	R442H	probably damaging	Het
Kifbp	T	C	10: 62,413,756 (GRCm39)	Y134C	probably benign	Het
Klb	A	T	5: 65,540,958 (GRCm39)	H1017L	probably benign	Het
Kndc1	T	A	7: 139,481,285 (GRCm39)		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,518,660 (GRCm39)		probably benign	Het
Lrrn3	T	C	12: 41,503,047 (GRCm39)	I423M	probably damaging	Het
Magi2	T	G	5: 20,596,365 (GRCm39)	F274L	probably damaging	Het
Magi2	T	A	5: 20,596,392 (GRCm39)	D283E	probably benign	Het
Map3k19	A	C	1: 127,751,492 (GRCm39)	S620A	probably damaging	Het
Meis2	C	T	2: 115,697,369 (GRCm39)	M388I	probably benign	Het
Ms4a3	G	C	19: 11,615,613 (GRCm39)	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,710,585 (GRCm39)	M548K	possibly damaging	Het
Ninl	C	T	2: 150,792,234 (GRCm39)	C763Y	probably benign	Het
Numa1	T	C	7: 101,650,834 (GRCm39)	F1522L	probably benign	Het
Or13a25	T	A	7: 140,247,680 (GRCm39)	I153N	possibly damaging	Het
Or2bd2	T	C	7: 6,441,922 (GRCm39)		probably benign	Het
Pcdhgc3	G	A	18: 37,939,916 (GRCm39)	V106I	probably benign	Het
Phf3	A	G	1: 30,863,552 (GRCm39)	V152A	unknown	Het
Pira1	A	G	7: 3,738,838 (GRCm39)	S590P	probably damaging	Het
Plcg2	A	T	8: 118,284,057 (GRCm39)	D118V	probably damaging	Het
Ppip5k2	A	T	1: 97,672,888 (GRCm39)	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,814,280 (GRCm39)	E341G	possibly damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rrs1	C	T	1: 9,615,645 (GRCm39)		probably benign	Het
Scaf11	T	C	15: 96,318,592 (GRCm39)	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157 (GRCm39)		probably null	Het
Sun3	G	T	11: 8,979,346 (GRCm39)	D118E	probably benign	Het
Svop	C	T	5: 114,180,992 (GRCm39)	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,045,474 (GRCm39)	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,937,064 (GRCm39)	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,198,381 (GRCm39)	D116E	probably benign	Het
Ube2z	A	G	11: 95,949,200 (GRCm39)	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,462,797 (GRCm39)		probably null	Het
Vps13a	A	G	19: 16,631,718 (GRCm39)	I2639T	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,003,166 (GRCm39)	V92E	probably benign	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
R7513:Pnpla1	UTSW	17	29,077,781 (GRCm39)	start gained	probably benign
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'- TAGAGATGCAGCAAGTGGCC -3'
(R):5'- AAAACCATGGGCCCTCTGAG -3'

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

Posted On

2020-06-30