Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02280:Pnpla7'

289808

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 #

IGL02280

Quality Score

Status

Chromosome

Chromosomal Location

24866045-24944069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24901589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 538 (D538E)

Ref Sequence

ENSEMBL: ENSMUSP00000044078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045295] [ENSMUST00000137913] [ENSMUST00000146153]

AlphaFold

A2AJ88

Predicted Effect

probably benign
Transcript: ENSMUST00000045295
AA Change: D538E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: D538E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146153

SMART Domains

Protein: ENSMUSP00000117907
Gene: ENSMUSG00000036833

Domain	Start	End	E-Value	Type
Blast:cNMP	28	62	6e-7	BLAST
low complexity region	128	133	N/A	INTRINSIC
low complexity region	167	178	N/A	INTRINSIC

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C2cd6	A	G	1: 59,117,040 (GRCm39)		probably null	Het
Car12	T	C	9: 66,653,857 (GRCm39)	L71P	probably damaging	Het
Dusp29	A	T	14: 21,736,787 (GRCm39)	I105N	probably damaging	Het
Galnt7	T	G	8: 57,989,824 (GRCm39)	R467S	probably damaging	Het
Glra3	T	A	8: 56,394,006 (GRCm39)	L39Q	possibly damaging	Het
Itsn2	A	G	12: 4,758,961 (GRCm39)	K1526E	possibly damaging	Het
Klra2	T	C	6: 131,222,256 (GRCm39)	R12G	probably damaging	Het
Ly6g6f	G	T	17: 35,302,194 (GRCm39)	H114Q	probably benign	Het
Mrc1	C	A	2: 14,249,024 (GRCm39)	R187S	probably benign	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Myh8	T	A	11: 67,174,198 (GRCm39)		probably benign	Het
Or10ag59	T	C	2: 87,405,689 (GRCm39)	I87T	probably damaging	Het
Or5h25	A	G	16: 58,930,695 (GRCm39)	S93P	probably damaging	Het
Parva	T	C	7: 112,159,226 (GRCm39)	I164T	probably benign	Het
Pcdh15	A	T	10: 74,058,295 (GRCm39)	Q233L	probably damaging	Het
Pcdhb4	T	G	18: 37,440,735 (GRCm39)	V15G	probably benign	Het
Pwp2	A	T	10: 78,019,934 (GRCm39)	I30N	probably damaging	Het
Robo2	G	T	16: 73,843,704 (GRCm39)	D170E	probably damaging	Het
Scara5	A	G	14: 65,968,227 (GRCm39)	M167V	probably benign	Het
Sdr9c7	A	C	10: 127,738,287 (GRCm39)		probably benign	Het
Sspo	T	A	6: 48,473,165 (GRCm39)	C4836S	probably damaging	Het
Taar7d	A	T	10: 23,904,006 (GRCm39)	D296V	probably 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
IGL01576:Pnpla7	APN	2	24,906,575 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16