Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01576:Pnpla7'

91260

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pnpla7

Ensembl Gene

ENSMUSG00000036833

Gene Name

patatin-like phospholipase domain containing 7

Synonyms

NRE, E430013P11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

IGL01576

Quality Score

Status

Chromosome

Chromosomal Location

24866045-24944069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24906575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 646 (V646A)

Ref Sequence

ENSEMBL: ENSMUSP00000044078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045295] [ENSMUST00000137913]

AlphaFold

A2AJ88

Predicted Effect

probably damaging
Transcript: ENSMUST00000045295
AA Change: V646A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: V646A

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
low complexity region	59	66	N/A	INTRINSIC
cNMP	170	295	2.06e-12	SMART
low complexity region	439	444	N/A	INTRINSIC
cNMP	481	600	1.16e-6	SMART
cNMP	603	716	1.55e-7	SMART
Pfam:Patatin	950	1116	3.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137913

SMART Domains

Protein: ENSMUSP00000141577
Gene: ENSMUSG00000036833

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
low complexity region	33	40	N/A	INTRINSIC
Pfam:cNMP_binding	162	200	2.7e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139643

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,531,293 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,816,121 (GRCm39)	E541G	probably damaging	Het
Arhgef5	A	T	6: 43,250,962 (GRCm39)	D571V	probably benign	Het
Birc6	A	G	17: 74,984,365 (GRCm39)	N4459S	possibly damaging	Het
Brsk2	T	C	7: 141,535,292 (GRCm39)	I38T	possibly damaging	Het
Cacna2d4	A	T	6: 119,258,602 (GRCm39)	R563*	probably null	Het
Car7	T	A	8: 105,276,180 (GRCm39)		probably null	Het
Chml	T	C	1: 175,515,271 (GRCm39)	T217A	probably benign	Het
Dnah7b	T	G	1: 46,307,813 (GRCm39)	N3042K	probably damaging	Het
Efcab2	T	G	1: 178,264,957 (GRCm39)		probably benign	Het
Espn	T	C	4: 152,208,174 (GRCm39)	E397G	probably damaging	Het
Fam20c	A	G	5: 138,793,094 (GRCm39)	T443A	probably damaging	Het
Fam221b	T	C	4: 43,666,227 (GRCm39)	E128G	probably benign	Het
Fat4	A	G	3: 38,943,096 (GRCm39)	D663G	probably damaging	Het
Fndc10	T	A	4: 155,779,433 (GRCm39)	V159D	probably benign	Het
Gm14496	A	G	2: 181,633,164 (GRCm39)	Y49C	possibly damaging	Het
Gpr63	G	T	4: 25,008,445 (GRCm39)	D390Y	possibly damaging	Het
Herc2	G	A	7: 55,876,409 (GRCm39)		probably null	Het
Igdcc3	A	G	9: 65,085,152 (GRCm39)	T199A	probably damaging	Het
Ireb2	T	C	9: 54,799,794 (GRCm39)	Y412H	probably damaging	Het
Lpin3	T	C	2: 160,739,047 (GRCm39)	V285A	probably benign	Het
Mdga1	T	C	17: 30,062,101 (GRCm39)	S443G	possibly damaging	Het
Med22	C	T	2: 26,799,004 (GRCm39)		probably null	Het
Or7c70	G	T	10: 78,683,207 (GRCm39)	L181I	possibly damaging	Het
Pals2	G	A	6: 50,140,472 (GRCm39)	R164Q	probably benign	Het
Pcnt	T	G	10: 76,204,656 (GRCm39)	D2583A	probably damaging	Het
Pkn3	G	A	2: 29,977,054 (GRCm39)	R598Q	probably damaging	Het
Podxl	A	T	6: 31,501,319 (GRCm39)	V412D	probably damaging	Het
Rad51ap1	A	T	6: 126,905,123 (GRCm39)	S129R	probably damaging	Het
Relb	T	C	7: 19,346,526 (GRCm39)	I349V	probably benign	Het
Rorb	C	T	19: 18,934,698 (GRCm39)	G224D	probably damaging	Het
Slc40a1	T	A	1: 45,948,757 (GRCm39)	I508F	probably damaging	Het
Tanc1	G	A	2: 59,628,079 (GRCm39)	V619M	probably damaging	Het
Tgm7	A	T	2: 120,931,514 (GRCm39)	D216E	probably damaging	Het
Tmem132e	A	G	11: 82,329,200 (GRCm39)	D493G	probably damaging	Het
Zfp110	T	A	7: 12,583,598 (GRCm39)	C749S	probably damaging	Het
Zscan4d	T	C	7: 10,896,519 (GRCm39)	N284D	possibly damaging	Het

Other mutations in Pnpla7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Pnpla7	APN	2	24,866,327 (GRCm39)	critical splice donor site	probably null
IGL00765:Pnpla7	APN	2	24,870,236 (GRCm39)	missense	probably damaging	0.98
IGL01626:Pnpla7	APN	2	24,940,905 (GRCm39)	missense	possibly damaging	0.58
IGL01844:Pnpla7	APN	2	24,940,985 (GRCm39)	critical splice donor site	probably null
IGL02280:Pnpla7	APN	2	24,901,589 (GRCm39)	missense	probably benign	0.00
IGL02629:Pnpla7	APN	2	24,940,957 (GRCm39)	missense	probably damaging	1.00
IGL02642:Pnpla7	APN	2	24,940,288 (GRCm39)	missense	probably benign	0.24
IGL02931:Pnpla7	APN	2	24,905,241 (GRCm39)	missense	possibly damaging	0.87
IGL03162:Pnpla7	APN	2	24,905,301 (GRCm39)	unclassified	probably benign
PIT4495001:Pnpla7	UTSW	2	24,932,151 (GRCm39)	missense	probably damaging	0.99
R0047:Pnpla7	UTSW	2	24,901,618 (GRCm39)	missense	probably damaging	1.00
R0047:Pnpla7	UTSW	2	24,901,618 (GRCm39)	missense	probably damaging	1.00
R0064:Pnpla7	UTSW	2	24,887,239 (GRCm39)	nonsense	probably null
R0064:Pnpla7	UTSW	2	24,887,239 (GRCm39)	nonsense	probably null
R0309:Pnpla7	UTSW	2	24,877,207 (GRCm39)	missense	probably damaging	1.00
R0541:Pnpla7	UTSW	2	24,885,305 (GRCm39)	missense	probably damaging	0.99
R0556:Pnpla7	UTSW	2	24,942,313 (GRCm39)	splice site	probably null
R0565:Pnpla7	UTSW	2	24,870,129 (GRCm39)	splice site	probably benign
R0830:Pnpla7	UTSW	2	24,887,267 (GRCm39)	missense	probably damaging	1.00
R0865:Pnpla7	UTSW	2	24,872,135 (GRCm39)	missense	probably benign	0.34
R0893:Pnpla7	UTSW	2	24,887,252 (GRCm39)	missense	probably damaging	1.00
R0969:Pnpla7	UTSW	2	24,940,965 (GRCm39)	missense	probably damaging	1.00
R1102:Pnpla7	UTSW	2	24,886,177 (GRCm39)	missense	probably damaging	1.00
R1551:Pnpla7	UTSW	2	24,937,720 (GRCm39)	missense	probably benign	0.01
R1572:Pnpla7	UTSW	2	24,905,263 (GRCm39)	missense	possibly damaging	0.69
R1623:Pnpla7	UTSW	2	24,942,611 (GRCm39)	missense	probably damaging	1.00
R1876:Pnpla7	UTSW	2	24,930,985 (GRCm39)	missense	possibly damaging	0.91
R1898:Pnpla7	UTSW	2	24,943,796 (GRCm39)	unclassified	probably benign
R1909:Pnpla7	UTSW	2	24,887,300 (GRCm39)	missense	possibly damaging	0.75
R1973:Pnpla7	UTSW	2	24,906,629 (GRCm39)	missense	probably damaging	1.00
R2230:Pnpla7	UTSW	2	24,941,610 (GRCm39)	unclassified	probably benign
R2381:Pnpla7	UTSW	2	24,870,770 (GRCm39)	missense	probably damaging	1.00
R2655:Pnpla7	UTSW	2	24,942,330 (GRCm39)	missense	probably damaging	1.00
R3125:Pnpla7	UTSW	2	24,932,150 (GRCm39)	missense	probably damaging	1.00
R4223:Pnpla7	UTSW	2	24,872,126 (GRCm39)	missense	possibly damaging	0.69
R4411:Pnpla7	UTSW	2	24,941,716 (GRCm39)	nonsense	probably null
R4573:Pnpla7	UTSW	2	24,940,885 (GRCm39)	missense	probably damaging	0.98
R4674:Pnpla7	UTSW	2	24,942,329 (GRCm39)	missense	probably damaging	1.00
R4841:Pnpla7	UTSW	2	24,870,064 (GRCm39)	missense	probably benign	0.05
R4842:Pnpla7	UTSW	2	24,870,064 (GRCm39)	missense	probably benign	0.05
R4893:Pnpla7	UTSW	2	24,943,688 (GRCm39)	nonsense	probably null
R4941:Pnpla7	UTSW	2	24,887,276 (GRCm39)	splice site	probably null
R5116:Pnpla7	UTSW	2	24,911,982 (GRCm39)	missense	probably damaging	0.97
R5126:Pnpla7	UTSW	2	24,870,056 (GRCm39)	missense	possibly damaging	0.83
R5138:Pnpla7	UTSW	2	24,931,115 (GRCm39)	missense	possibly damaging	0.88
R5169:Pnpla7	UTSW	2	24,940,321 (GRCm39)	missense	probably benign	0.03
R5188:Pnpla7	UTSW	2	24,887,312 (GRCm39)	missense	probably benign	0.06
R5288:Pnpla7	UTSW	2	24,931,031 (GRCm39)	missense	probably damaging	0.97
R5307:Pnpla7	UTSW	2	24,911,964 (GRCm39)	missense	possibly damaging	0.81
R5339:Pnpla7	UTSW	2	24,892,949 (GRCm39)	missense	probably benign	0.10
R5384:Pnpla7	UTSW	2	24,931,031 (GRCm39)	missense	probably damaging	0.97
R5385:Pnpla7	UTSW	2	24,931,031 (GRCm39)	missense	probably damaging	0.97
R5479:Pnpla7	UTSW	2	24,909,453 (GRCm39)	missense	possibly damaging	0.90
R5640:Pnpla7	UTSW	2	24,893,013 (GRCm39)	missense	possibly damaging	0.92
R5662:Pnpla7	UTSW	2	24,942,396 (GRCm39)	missense	probably damaging	1.00
R5751:Pnpla7	UTSW	2	24,871,790 (GRCm39)	missense	probably damaging	0.97
R5874:Pnpla7	UTSW	2	24,901,661 (GRCm39)	missense	probably benign
R6284:Pnpla7	UTSW	2	24,906,630 (GRCm39)	missense	possibly damaging	0.79
R6351:Pnpla7	UTSW	2	24,901,576 (GRCm39)	missense	probably damaging	0.97
R6513:Pnpla7	UTSW	2	24,906,550 (GRCm39)	missense	possibly damaging	0.62
R7193:Pnpla7	UTSW	2	24,941,627 (GRCm39)	missense	probably damaging	1.00
R7503:Pnpla7	UTSW	2	24,873,544 (GRCm39)	nonsense	probably null
R7526:Pnpla7	UTSW	2	24,888,678 (GRCm39)	missense	possibly damaging	0.52
R7791:Pnpla7	UTSW	2	24,942,078 (GRCm39)	missense	probably damaging	1.00
R8262:Pnpla7	UTSW	2	24,873,635 (GRCm39)	missense	probably damaging	1.00
R8283:Pnpla7	UTSW	2	24,940,935 (GRCm39)	missense	probably damaging	1.00
R8993:Pnpla7	UTSW	2	24,943,431 (GRCm39)	missense	possibly damaging	0.68
R9086:Pnpla7	UTSW	2	24,929,709 (GRCm39)	missense	probably damaging	1.00
R9229:Pnpla7	UTSW	2	24,873,503 (GRCm39)	missense	probably damaging	0.98
R9494:Pnpla7	UTSW	2	24,942,390 (GRCm39)	nonsense	probably null
R9651:Pnpla7	UTSW	2	24,892,931 (GRCm39)	missense	probably benign	0.02
Z1177:Pnpla7	UTSW	2	24,888,771 (GRCm39)	missense	probably null	0.06

Posted On

2013-12-09