Mutagenetix > Incidental Mutation

Incidental Mutation 'R5886:Pnpla1'

456128

Institutional Source

Beutler Lab

Gene Symbol

Pnpla1

Ensembl Gene

ENSMUSG00000043286

Gene Name

patatin-like phospholipase domain containing 1

Synonyms

MMRRC Submission

044088-MU

Accession Numbers

Essential gene?

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

Stock #

R5886 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29077385-29109283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29095837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 86 (F86S)

Ref Sequence

ENSEMBL: ENSMUSP00000110385 (fasta)

Gene Model

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

AlphaFold

Q3V1D5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056866
AA Change: F86S

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000050123
Gene: ENSMUSG00000043286
AA Change: F86S

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: F86S

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110385
Gene: ENSMUSG00000043286
AA Change: F86S

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

Meta Mutation Damage Score

0.1251

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.2%
20x: 91.0%

Validation Efficiency

96% (78/81)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,775,162 (GRCm39)	V367A	probably benign	Het
Adam26b	T	C	8: 43,973,310 (GRCm39)	E564G	possibly damaging	Het
Akap1	A	G	11: 88,725,486 (GRCm39)		probably null	Het
Akap5	T	A	12: 76,374,619 (GRCm39)	V10E	possibly damaging	Het
Atad2	A	T	15: 57,961,910 (GRCm39)	L887*	probably null	Het
Brd10	T	C	19: 29,696,677 (GRCm39)	I939V	probably benign	Het
C1qbp	A	G	11: 70,873,008 (GRCm39)	V122A	probably benign	Het
C1qtnf7	G	A	5: 43,772,998 (GRCm39)	G92D	probably damaging	Het
Cacna1a	T	C	8: 85,249,651 (GRCm39)	I219T	probably damaging	Het
Capn12	A	G	7: 28,587,030 (GRCm39)	N333S	probably benign	Het
Ccdc154	C	T	17: 25,390,792 (GRCm39)	T644I	probably benign	Het
Cd200r1	T	C	16: 44,610,566 (GRCm39)	S225P	possibly damaging	Het
Cntnap5a	T	C	1: 116,499,402 (GRCm39)		probably null	Het
Coq4	A	T	2: 29,680,626 (GRCm39)		probably benign	Het
Cubn	A	T	2: 13,324,834 (GRCm39)		probably benign	Het
Cyp4f17	A	T	17: 32,743,013 (GRCm39)	S229C	possibly damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
D930007J09Rik	C	A	13: 32,986,819 (GRCm39)	A200E	probably benign	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Duoxa1	A	T	2: 122,134,291 (GRCm39)	S276T	possibly damaging	Het
Efcab15	A	G	11: 103,098,947 (GRCm39)		probably null	Het
Efhb	T	C	17: 53,758,582 (GRCm39)	I351M	probably benign	Het
Fat1	G	A	8: 45,480,718 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,486,432 (GRCm39)	T3329S	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gm973	T	A	1: 59,597,409 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,799,375 (GRCm39)	L124Q	probably damaging	Het
Hars2	T	A	18: 36,923,150 (GRCm39)		probably benign	Het
Hcrt	G	A	11: 100,652,759 (GRCm39)	A85V	probably damaging	Het
Hivep1	A	G	13: 42,310,088 (GRCm39)	D776G	probably damaging	Het
Hmgcr	A	T	13: 96,796,691 (GRCm39)	S200T	probably damaging	Het
Krt40	C	T	11: 99,430,907 (GRCm39)	A201T	probably benign	Het
Lca5	G	A	9: 83,281,734 (GRCm39)	A350V	probably benign	Het
Lrig2	T	A	3: 104,370,014 (GRCm39)	M515L	probably benign	Het
Mbd5	A	G	2: 49,162,464 (GRCm39)	D90G	probably damaging	Het
Mfsd4a	C	T	1: 131,995,465 (GRCm39)	V56I	probably damaging	Het
Mpi	A	G	9: 57,455,745 (GRCm39)		probably benign	Het
Mroh4	G	T	15: 74,478,296 (GRCm39)	D935E	possibly damaging	Het
Mtg1	G	T	7: 139,729,778 (GRCm39)		probably null	Het
Nanos1	T	A	19: 60,745,268 (GRCm39)	C189S	probably damaging	Het
Naprt	A	C	15: 75,763,324 (GRCm39)		probably null	Het
Nubpl	T	A	12: 52,228,092 (GRCm39)		probably null	Het
Or10ad1b	T	C	15: 98,124,672 (GRCm39)	T285A	possibly damaging	Het
Or10d4	G	T	9: 39,581,252 (GRCm39)	V300L	probably benign	Het
Or8g23	T	A	9: 38,971,678 (GRCm39)	T95S	probably benign	Het
Or9g20	A	G	2: 85,630,147 (GRCm39)	S156P	probably damaging	Het
Otud4	T	A	8: 80,399,436 (GRCm39)	Y717N	probably damaging	Het
Pakap	T	A	4: 57,856,295 (GRCm39)	D582E	probably damaging	Het
Prlhr	C	T	19: 60,456,014 (GRCm39)	W184*	probably null	Het
Rtp3	A	G	9: 110,816,204 (GRCm39)	S116P	probably damaging	Het
Sema3c	T	C	5: 17,886,984 (GRCm39)	I345T	possibly damaging	Het
Skor2	T	C	18: 76,947,124 (GRCm39)	L282P	unknown	Het
Slc24a4	T	C	12: 102,226,674 (GRCm39)	V468A	probably damaging	Het
Slfn8	C	T	11: 82,894,160 (GRCm39)	M826I	probably benign	Het
Tacc2	A	G	7: 130,330,850 (GRCm39)	D378G	probably benign	Het
Thbs3	C	A	3: 89,127,470 (GRCm39)	D370E	probably damaging	Het
Tk1	CC	GA	11: 117,707,948 (GRCm39)		probably benign	Het
Tm7sf2	A	G	19: 6,116,572 (GRCm39)		probably benign	Het
Trappc8	T	C	18: 21,007,737 (GRCm39)	Y126C	probably damaging	Het
Trim35	C	G	14: 66,541,502 (GRCm39)	L209V	possibly damaging	Het
Trim35	T	C	14: 66,541,503 (GRCm39)	L209P	probably damaging	Het
Trip12	C	T	1: 84,708,179 (GRCm39)		probably benign	Het
Trp53bp1	A	G	2: 121,035,502 (GRCm39)	V1583A	probably damaging	Het
Tuba5-ps	A	G	1: 134,447,937 (GRCm39)		noncoding transcript	Het
Tubgcp6	A	T	15: 88,987,450 (GRCm39)	N1166K	possibly damaging	Het
Usp54	C	T	14: 20,611,910 (GRCm39)	D969N	probably benign	Het
Vldlr	C	A	19: 27,221,171 (GRCm39)	S612R	probably benign	Het
Vps13a	T	C	19: 16,641,926 (GRCm39)	T2234A	probably benign	Het
Vps39	A	G	2: 120,152,053 (GRCm39)		probably benign	Het
Zdhhc3	A	T	9: 122,920,146 (GRCm39)	C120S	probably benign	Het
Zfp37	A	G	4: 62,109,471 (GRCm39)	F531S	probably damaging	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
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
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'- GGACATTCTCCTTTATGGCCTG -3'
(R):5'- AGCTCTTCCTTGGATCGGTAC -3'

Sequencing Primer
(F):5'- CAGCTTCTGGGTCTGAGGC -3'
(R):5'- TCCTTGGATCGGTACTCGGAAAC -3'

Posted On

2017-02-15