Mutagenetix > Incidental Mutation

Incidental Mutation 'R6269:Pnpla1'

507251

Institutional Source

Beutler Lab

Gene Symbol

Pnpla1

Ensembl Gene

ENSMUSG00000043286

Gene Name

patatin-like phospholipase domain containing 1

Synonyms

MMRRC Submission

044440-MU

Accession Numbers

Essential gene?

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

Stock #

R6269 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29077385-29109283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29100342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 403 (G403E)

Ref Sequence

ENSEMBL: ENSMUSP00000110385 (fasta)

Gene Model

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

AlphaFold

Q3V1D5

Predicted Effect

probably benign
Transcript: ENSMUST00000056866
AA Change: G403E

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

SMART Domains

Protein: ENSMUSP00000050123
Gene: ENSMUSG00000043286
AA Change: G403E

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
AA Change: G403E

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

SMART Domains

Protein: ENSMUSP00000110385
Gene: ENSMUSG00000043286
AA Change: G403E

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,941,033 (GRCm39)	I609N	unknown	Het
Ano10	A	T	9: 122,090,308 (GRCm39)	I277N	probably damaging	Het
Ap2b1	A	G	11: 83,237,499 (GRCm39)	D483G	probably damaging	Het
As3mt	T	A	19: 46,708,391 (GRCm39)	F226Y	probably damaging	Het
Atp10a	G	A	7: 58,453,487 (GRCm39)	R855H	possibly damaging	Het
Bin3	T	A	14: 70,374,611 (GRCm39)	H213Q	probably benign	Het
Bora	T	C	14: 99,311,103 (GRCm39)	C512R	probably damaging	Het
Camk2b	T	A	11: 5,928,497 (GRCm39)	D414V	probably damaging	Het
Ccdc27	A	T	4: 154,122,179 (GRCm39)	L233Q	unknown	Het
Ccdc73	T	C	2: 104,737,978 (GRCm39)	S25P	probably damaging	Het
Cenpf	G	A	1: 189,392,117 (GRCm39)	H572Y	probably benign	Het
Chil4	A	G	3: 106,111,487 (GRCm39)	V209A	probably damaging	Het
Clstn1	T	C	4: 149,728,524 (GRCm39)	V650A	probably benign	Het
Cox6a2	T	A	7: 127,805,437 (GRCm39)	S11C	probably benign	Het
Csf1	T	C	3: 107,656,317 (GRCm39)	E238G	probably benign	Het
Cyp2c23	T	A	19: 44,017,626 (GRCm39)	M1L	unknown	Het
Cyp4a10	T	A	4: 115,381,509 (GRCm39)	M191K	probably damaging	Het
Cyp4a14	A	G	4: 115,348,328 (GRCm39)	V383A	possibly damaging	Het
D130052B06Rik	T	G	11: 33,573,916 (GRCm39)	V171G	possibly damaging	Het
Dlgap2	A	G	8: 14,872,369 (GRCm39)	T617A	probably benign	Het
Dyrk4	T	A	6: 126,863,690 (GRCm39)	I351F	probably damaging	Het
Epg5	T	C	18: 77,991,585 (GRCm39)	V94A	probably benign	Het
Fam111a	A	G	19: 12,565,807 (GRCm39)	T519A	probably benign	Het
Gdpd4	A	G	7: 97,623,669 (GRCm39)	S314G	probably damaging	Het
Gm9758	T	A	5: 14,962,274 (GRCm39)	K111N	possibly damaging	Het
Gpr137b	A	T	13: 13,538,096 (GRCm39)	V285E	probably damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Itgal	T	A	7: 126,929,389 (GRCm39)	L1102Q	probably null	Het
Kctd19	T	A	8: 106,121,992 (GRCm39)	Y185F	possibly damaging	Het
Kif5b	A	G	18: 6,223,558 (GRCm39)	L317P	possibly damaging	Het
Klhl42	C	A	6: 146,993,805 (GRCm39)	A259E	probably damaging	Het
Lrrc2	A	G	9: 110,810,017 (GRCm39)	D351G	probably damaging	Het
Med12l	A	G	3: 59,135,243 (GRCm39)	E797G	probably damaging	Het
Mink1	A	G	11: 70,489,813 (GRCm39)	E63G	probably damaging	Het
Nek9	T	C	12: 85,379,103 (GRCm39)		probably null	Het
Or12e8	A	T	2: 87,677,218 (GRCm39)	H201L	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Parp6	G	A	9: 59,557,295 (GRCm39)	V627I	probably benign	Het
Pclo	C	T	5: 14,572,108 (GRCm39)	Q498*	probably null	Het
Pdlim5	T	C	3: 142,018,086 (GRCm39)	T170A	possibly damaging	Het
Pgap1	A	T	1: 54,587,167 (GRCm39)	Y136*	probably null	Het
Pgghg	T	A	7: 140,526,097 (GRCm39)	N563K	probably damaging	Het
Plxnb2	A	G	15: 89,044,916 (GRCm39)	M1143T	probably benign	Het
Prc1	G	A	7: 79,959,175 (GRCm39)	R381Q	probably damaging	Het
Psph	A	T	5: 129,843,529 (GRCm39)	I175N	probably damaging	Het
Rbbp8nl	T	A	2: 179,923,305 (GRCm39)	K131*	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Sde2	G	A	1: 180,683,371 (GRCm39)	V42I	probably benign	Het
Slc25a3	G	A	10: 90,952,963 (GRCm39)	R314*	probably null	Het
Spag9	A	G	11: 93,935,333 (GRCm39)	N48S	probably benign	Het
Srp54b	T	C	12: 55,302,757 (GRCm39)	M351T	possibly damaging	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tcaf2	A	G	6: 42,604,342 (GRCm39)	L679P	probably damaging	Het
Tnrc6b	T	A	15: 80,764,944 (GRCm39)	N815K	probably benign	Het
Usp17la	A	T	7: 104,509,557 (GRCm39)	Q54L	possibly damaging	Het
Vmn2r92	T	A	17: 18,387,036 (GRCm39)	I125K	probably benign	Het
Xrra1	T	C	7: 99,566,679 (GRCm39)	Y732H	probably damaging	Het
Zfp131	A	G	13: 120,227,941 (GRCm39)	S603P	possibly damaging	Het
Zfp28	G	T	7: 6,396,612 (GRCm39)	S349I	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
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'- ACCTGAATCTGGGTGCAAGG -3'
(R):5'- AAGTCCAAGTGTTGCCCTG -3'

Sequencing Primer
(F):5'- CAAGGAGTCTGTGGAATCACCC -3'
(R):5'- CAAGTGTTGCCCTGGATGC -3'

Posted On

2018-03-15