Mutagenetix > Incidental Mutation

Incidental Mutation 'R1727:Pnpla1'

198280

Institutional Source

Beutler Lab

Gene Symbol

Pnpla1

Ensembl Gene

ENSMUSG00000043286

Gene Name

patatin-like phospholipase domain containing 1

Synonyms

MMRRC Submission

039759-MU

Accession Numbers

Essential gene?

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

Stock #

R1727 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29077385-29109283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29097508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 225 (I225V)

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: I225V

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000050123
Gene: ENSMUSG00000043286
AA Change: I225V

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: I225V

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110385
Gene: ENSMUSG00000043286
AA Change: I225V

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

0.0880

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

96% (98/102)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,565,472 (GRCm39)		probably benign	Het
Ak2	C	T	4: 128,901,556 (GRCm39)	P159L	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Akr1a1	A	G	4: 116,498,248 (GRCm39)	L99P	probably damaging	Het
Anxa8	T	A	14: 33,811,547 (GRCm39)	M34K	probably damaging	Het
Axl	T	G	7: 25,460,191 (GRCm39)	D767A	possibly damaging	Het
B430305J03Rik	A	G	3: 61,271,299 (GRCm39)		probably benign	Het
Cdh24	A	T	14: 54,876,095 (GRCm39)	Y182*	probably null	Het
Cdk5rap2	T	C	4: 70,190,916 (GRCm39)	D1043G	probably benign	Het
Cdk5rap2	A	T	4: 70,208,209 (GRCm39)	S746T	possibly damaging	Het
Cep120	T	C	18: 53,860,801 (GRCm39)	M210V	probably benign	Het
Chga	C	T	12: 102,527,696 (GRCm39)	H117Y	possibly damaging	Het
Cnga4	T	C	7: 105,054,961 (GRCm39)	W79R	probably damaging	Het
Cntnap5b	C	T	1: 100,141,469 (GRCm39)	T575I	possibly damaging	Het
Col6a3	T	A	1: 90,724,296 (GRCm39)		probably null	Het
Copz2	T	C	11: 96,744,301 (GRCm39)	V71A	probably benign	Het
Dennd3	G	T	15: 73,436,977 (GRCm39)	R1068L	possibly damaging	Het
Dhrs7	T	C	12: 72,706,238 (GRCm39)	T56A	probably damaging	Het
Dnah17	G	A	11: 117,961,315 (GRCm39)	T2557I	probably damaging	Het
Dnah17	A	T	11: 117,987,362 (GRCm39)	L1320*	probably null	Het
Dynlt2b	T	A	16: 32,241,751 (GRCm39)	M78K	probably benign	Het
Eif3b	T	C	5: 140,411,077 (GRCm39)	I176T	probably damaging	Het
Eif4b	T	A	15: 101,998,497 (GRCm39)	D392E	possibly damaging	Het
Eif4h	T	C	5: 134,668,134 (GRCm39)	Y7C	probably damaging	Het
Enam	A	T	5: 88,651,853 (GRCm39)	S1046C	probably damaging	Het
Epg5	T	A	18: 78,059,030 (GRCm39)	V1928E	possibly damaging	Het
Erbin	T	A	13: 103,964,476 (GRCm39)	E1222V	probably benign	Het
Fhdc1	T	A	3: 84,353,483 (GRCm39)	I581F	possibly damaging	Het
Fhip2b	C	A	14: 70,831,438 (GRCm39)	G32V	probably damaging	Het
Fstl4	A	C	11: 52,959,478 (GRCm39)	Q173P	probably damaging	Het
Gm266	A	G	12: 111,451,913 (GRCm39)	F98L	possibly damaging	Het
Gsdmc2	T	C	15: 63,721,628 (GRCm39)		probably benign	Het
Gtf2h3	A	G	5: 124,728,419 (GRCm39)	Q156R	probably benign	Het
H2-T23	T	C	17: 36,342,545 (GRCm39)	T198A	possibly damaging	Het
Il1r1	C	A	1: 40,332,424 (GRCm39)	A68E	probably benign	Het
Kcna7	A	T	7: 45,058,930 (GRCm39)	I406F	possibly damaging	Het
Lbr	A	G	1: 181,647,481 (GRCm39)	I432T	probably benign	Het
Lnx1	A	T	5: 74,768,577 (GRCm39)		probably null	Het
Lrrcc1	T	A	3: 14,602,423 (GRCm39)	I50N	probably damaging	Het
Lss	T	C	10: 76,375,678 (GRCm39)	V237A	possibly damaging	Het
Mcm10	A	G	2: 5,011,336 (GRCm39)	F212L	probably benign	Het
Methig1	A	C	15: 100,251,130 (GRCm39)	I14L	probably benign	Het
Mrpl41	A	T	2: 24,864,636 (GRCm39)	V55E	probably damaging	Het
Mtfp1	C	A	11: 4,043,982 (GRCm39)	D83Y	probably damaging	Het
Myh1	T	A	11: 67,101,292 (GRCm39)		probably benign	Het
Myo1e	T	C	9: 70,283,806 (GRCm39)	F834S	possibly damaging	Het
Ndufs7	A	T	10: 80,091,853 (GRCm39)		probably benign	Het
Nlrp4e	T	A	7: 23,020,420 (GRCm39)	N302K	probably benign	Het
Nt5e	T	A	9: 88,210,082 (GRCm39)	M115K	possibly damaging	Het
Nup153	A	T	13: 46,847,261 (GRCm39)	C723S	probably damaging	Het
Obox6	G	A	7: 15,568,502 (GRCm39)	P125S	probably benign	Het
Or1n2	G	A	2: 36,797,405 (GRCm39)	C149Y	probably benign	Het
Or2t48	A	T	11: 58,420,342 (GRCm39)	S157T	possibly damaging	Het
Or52n3	C	T	7: 104,530,721 (GRCm39)	T269I	probably benign	Het
Or5an11	T	G	19: 12,246,365 (GRCm39)	I257S	possibly damaging	Het
Or8i2	A	G	2: 86,852,607 (GRCm39)	F94L	probably damaging	Het
Pcdh1	A	C	18: 38,336,085 (GRCm39)	Y44*	probably null	Het
Pcdhb6	A	T	18: 37,467,640 (GRCm39)	D187V	probably damaging	Het
Pclo	A	G	5: 14,727,001 (GRCm39)		probably benign	Het
Pdcl3	T	A	1: 39,034,836 (GRCm39)	I80K	possibly damaging	Het
Pde12	A	T	14: 26,390,022 (GRCm39)	V229E	probably benign	Het
Plcg1	A	G	2: 160,590,008 (GRCm39)	E142G	probably benign	Het
Plxnb1	A	G	9: 108,930,125 (GRCm39)		probably null	Het
Polr2f	A	G	15: 79,028,805 (GRCm39)		probably benign	Het
Prob1	A	G	18: 35,787,364 (GRCm39)	S297P	possibly damaging	Het
Qsox2	A	C	2: 26,110,970 (GRCm39)	S132A	probably benign	Het
Rab19	T	A	6: 39,365,095 (GRCm39)	Y118*	probably null	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rptn	T	C	3: 93,304,445 (GRCm39)	S593P	possibly damaging	Het
Septin11	T	C	5: 93,304,783 (GRCm39)	I200T	probably damaging	Het
Slc10a4	T	A	5: 73,173,491 (GRCm39)		probably benign	Het
Slc9c1	A	T	16: 45,422,324 (GRCm39)	I1130F	probably benign	Het
Slit3	C	T	11: 35,520,659 (GRCm39)	R599C	probably damaging	Het
Snx19	C	T	9: 30,344,662 (GRCm39)	P622L	probably damaging	Het
Sspo	T	C	6: 48,471,782 (GRCm39)	L50P	probably damaging	Het
St8sia1	A	T	6: 142,822,453 (GRCm39)	C137S	probably damaging	Het
Syt11	G	C	3: 88,669,259 (GRCm39)	T211S	possibly damaging	Het
Tanc1	A	C	2: 59,621,153 (GRCm39)	Y324S	probably damaging	Het
Tas2r136	T	C	6: 132,754,753 (GRCm39)	I125V	possibly damaging	Het
Tbc1d15	A	T	10: 115,046,130 (GRCm39)	W458R	probably damaging	Het
Tecta	G	T	9: 42,270,597 (GRCm39)	T1237N	probably damaging	Het
Tet2	T	A	3: 133,193,051 (GRCm39)	D461V	probably damaging	Het
Tmco3	G	A	8: 13,368,866 (GRCm39)	V573M	possibly damaging	Het
Tmem212	A	T	3: 27,938,961 (GRCm39)	M175K	probably benign	Het
Traf6	A	G	2: 101,527,084 (GRCm39)	H278R	probably benign	Het
Trerf1	T	A	17: 47,652,092 (GRCm39)		noncoding transcript	Het
Ttn	A	C	2: 76,576,988 (GRCm39)	V24635G	probably damaging	Het
Ush1c	A	T	7: 45,858,655 (GRCm39)	D544E	probably damaging	Het
Usp47	C	T	7: 111,685,307 (GRCm39)	T586M	probably damaging	Het
Vmn2r1	T	A	3: 63,989,163 (GRCm39)	M34K	probably benign	Het
Vmn2r102	T	A	17: 19,897,770 (GRCm39)	W262R	probably damaging	Het
Wasf3	C	T	5: 146,403,769 (GRCm39)	A293V	probably benign	Het
Xrn2	A	G	2: 146,903,436 (GRCm39)	Q812R	probably benign	Het
Zc3h7b	T	C	15: 81,652,230 (GRCm39)	I10T	probably damaging	Het
Zfp747	A	T	7: 126,973,249 (GRCm39)	L307Q	probably damaging	Het
Zfp777	A	T	6: 48,020,824 (GRCm39)	F266Y	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
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
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'- ACATCGACGGTGGCTTCACAAG -3'
(R):5'- GGTGTGTGAGAGCTATGTCCACAG -3'

Sequencing Primer
(F):5'- TGGACAGACTCCATCACCAT -3'
(R):5'- tgaccttgaactcctgaacc -3'

Posted On

2014-05-23