Mutagenetix > Incidental Mutation

Incidental Mutation 'R7400:Pnpla1'

574131

Institutional Source

Beutler Lab

Gene Symbol

Pnpla1

Ensembl Gene

ENSMUSG00000043286

Gene Name

patatin-like phospholipase domain containing 1

Synonyms

MMRRC Submission

045482-MU

Accession Numbers

Essential gene?

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

Stock #

R7400 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29077385-29109283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29077950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 37 (D37V)

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: D37V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050123
Gene: ENSMUSG00000043286
AA Change: D37V

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: D37V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110385
Gene: ENSMUSG00000043286
AA Change: D37V

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

0.5163

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (69/71)

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
4932414N04Rik	T	C	2: 68,496,547 (GRCm39)	S118P	unknown	Het
Ahnak	T	A	19: 8,991,977 (GRCm39)	D4420E	probably damaging	Het
Atp5mc2	C	T	15: 102,573,547 (GRCm39)	A90T	possibly damaging	Het
Batf2	A	G	19: 6,221,538 (GRCm39)	Y116C	probably damaging	Het
Cd48	G	A	1: 171,523,493 (GRCm39)	R112H	probably benign	Het
Cdh8	A	T	8: 100,006,192 (GRCm39)	Y132N	probably damaging	Het
Cfap70	A	C	14: 20,458,335 (GRCm39)	S793A	probably benign	Het
Cmip	A	G	8: 117,984,144 (GRCm39)		probably null	Het
Cyp1a2	T	C	9: 57,589,223 (GRCm39)	N197S	probably benign	Het
Diaph1	T	C	18: 37,987,555 (GRCm39)	D1067G	probably damaging	Het
Disp2	T	C	2: 118,622,367 (GRCm39)	L1033P	probably damaging	Het
Dock6	G	T	9: 21,713,103 (GRCm39)	A1981D	possibly damaging	Het
Eci3	T	C	13: 35,143,960 (GRCm39)	D55G	probably benign	Het
Eea1	T	A	10: 95,831,432 (GRCm39)	D174E	probably benign	Het
Ehd2	T	C	7: 15,684,581 (GRCm39)	E406G	possibly damaging	Het
Erich3	A	G	3: 154,468,214 (GRCm39)	K889E		Het
Fat4	C	A	3: 38,942,073 (GRCm39)	T322K	probably damaging	Het
Fitm1	A	T	14: 55,814,226 (GRCm39)	I241F	possibly damaging	Het
Fscb	C	A	12: 64,518,391 (GRCm39)	S1025I	unknown	Het
Gpsm2	T	A	3: 108,587,004 (GRCm39)	D644V	probably damaging	Het
Gucy2d	C	A	7: 98,092,847 (GRCm39)	L75M	possibly damaging	Het
Gvin2	T	A	7: 105,551,247 (GRCm39)	I602F	probably benign	Het
Hmcn1	T	C	1: 150,550,181 (GRCm39)	I2668V	probably damaging	Het
Hoxa7	A	G	6: 52,194,033 (GRCm39)	I118T	possibly damaging	Het
Hsp90ab1	A	G	17: 45,880,210 (GRCm39)	V473A	probably benign	Het
Ica1l	T	C	1: 60,081,801 (GRCm39)		probably null	Het
Ighv1-72	A	G	12: 115,721,837 (GRCm39)	S40P	probably damaging	Het
Inhca	T	A	9: 103,127,861 (GRCm39)	E690V	probably benign	Het
Kif28	A	C	1: 179,527,839 (GRCm39)	W771G	probably damaging	Het
Klf13	G	C	7: 63,587,996 (GRCm39)	A100G	probably benign	Het
Klhl5	A	G	5: 65,305,933 (GRCm39)	E300G	possibly damaging	Het
Krt40	A	G	11: 99,433,969 (GRCm39)	S6P	probably benign	Het
Map3k13	C	T	16: 21,741,072 (GRCm39)	R800W	probably damaging	Het
Mef2d	T	C	3: 88,075,038 (GRCm39)	L408P	possibly damaging	Het
Mmp10	T	A	9: 7,503,301 (GRCm39)	M87K	probably damaging	Het
Mrgprd	T	A	7: 144,875,643 (GRCm39)	H171Q	probably benign	Het
Muc1	C	T	3: 89,137,953 (GRCm39)	T265I	possibly damaging	Het
Myo15b	A	G	11: 115,750,939 (GRCm39)	N570D		Het
Nfs1	T	A	2: 155,968,243 (GRCm39)	I408F	probably damaging	Het
Npdc1	G	T	2: 25,296,257 (GRCm39)	C48F	probably damaging	Het
Or2j3	A	T	17: 38,616,222 (GRCm39)	N43K	possibly damaging	Het
Or52e7	T	C	7: 104,684,417 (GRCm39)	I4T	probably benign	Het
Or52j3	T	C	7: 102,836,587 (GRCm39)	S260P	probably damaging	Het
Or9a2	A	T	6: 41,748,678 (GRCm39)	L185H	probably damaging	Het
Osbpl2	T	C	2: 179,795,114 (GRCm39)	M332T	probably benign	Het
Ostm1	T	A	10: 42,574,213 (GRCm39)	V302D	probably damaging	Het
Otof	T	C	5: 30,542,532 (GRCm39)	D672G	probably benign	Het
Plekha6	A	T	1: 133,201,762 (GRCm39)	K392*	probably null	Het
Rasgrp1	A	G	2: 117,129,026 (GRCm39)	S198P	probably damaging	Het
Reln	A	T	5: 22,176,932 (GRCm39)	N1911K	probably damaging	Het
Ripply3	C	A	16: 94,136,759 (GRCm39)	A140E	probably benign	Het
Siglec1	A	G	2: 130,928,015 (GRCm39)	C8R	possibly damaging	Het
Slamf6	T	C	1: 171,747,360 (GRCm39)	S41P	unknown	Het
Slc15a5	A	G	6: 138,050,055 (GRCm39)	M120T	probably benign	Het
Slc25a20	T	G	9: 108,559,172 (GRCm39)	D179E	possibly damaging	Het
Sltm	T	A	9: 70,493,352 (GRCm39)	V783E	probably damaging	Het
Smc1b	C	A	15: 84,953,921 (GRCm39)	R1116L	probably damaging	Het
Smim23	A	G	11: 32,774,471 (GRCm39)	V16A	probably benign	Het
Spata20	A	G	11: 94,374,226 (GRCm39)	V348A	probably benign	Het
Spen	T	C	4: 141,201,052 (GRCm39)	D2525G	probably damaging	Het
St14	A	C	9: 31,019,571 (GRCm39)	N83K	probably benign	Het
Stab1	T	C	14: 30,879,341 (GRCm39)	N713S	probably null	Het
Syne1	A	T	10: 5,168,580 (GRCm39)	L5267H	probably benign	Het
Tenm4	T	C	7: 96,344,010 (GRCm39)	L271P	probably damaging	Het
Tfap2d	C	T	1: 19,213,150 (GRCm39)	H325Y	possibly damaging	Het
Trav23	A	G	14: 54,215,020 (GRCm39)	R78G	probably benign	Het
Ttc39c	A	T	18: 12,776,856 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,070,889 (GRCm39)	D1228G	probably damaging	Het
Vmn1r66	T	A	7: 10,008,874 (GRCm39)	H53L	probably damaging	Het
Vps13b	A	T	15: 35,379,046 (GRCm39)	L53F	probably damaging	Het
Zfp532	C	T	18: 65,771,984 (GRCm39)	T834M	possibly 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
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
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'- TCAGCAGAGCTAAACAGGC -3'
(R):5'- CAAGCTTGTCCAGGGTCTGTTC -3'

Sequencing Primer
(F):5'- GGTAGAGTTGCCACATTCCCTG -3'
(R):5'- CCAGGGTCTGTTCTGAGAAGC -3'

Posted On

2019-09-13