Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00421:Pnpla7'

7263

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 #

IGL00421

Quality Score

Status

Chromosome

Chromosomal Location

24866045-24944069 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 24866327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117428 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028351] [ENSMUST00000045295] [ENSMUST00000045604] [ENSMUST00000126909] [ENSMUST00000137913] [ENSMUST00000152777] [ENSMUST00000153618] [ENSMUST00000194392]

AlphaFold

A2AJ88

Predicted Effect

probably null
Transcript: ENSMUST00000028351

SMART Domains

Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975

Domain	Start	End	E-Value	Type
Blast:WD40	74	118	3e-10	BLAST
Blast:WD40	128	175	3e-15	BLAST
WD40	183	223	7.43e-1	SMART
WD40	227	267	1.08e-4	SMART
WD40	271	310	1.37e2	SMART
WD40	420	455	1.97e2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000045295

SMART Domains

Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833

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: ENSMUST00000045604

SMART Domains

Protein: ENSMUSP00000043561
Gene: ENSMUSG00000036850

Domain	Start	End	E-Value	Type
Pfam:MRP-L27	13	125	1.3e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126909

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: ENSMUST00000139031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139643

Predicted Effect

probably null
Transcript: ENSMUST00000152777

SMART Domains

Protein: ENSMUSP00000122394
Gene: ENSMUSG00000036833

Domain	Start	End	E-Value	Type
cNMP	89	179	4.98e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000153618

SMART Domains

Protein: ENSMUSP00000117428
Gene: ENSMUSG00000036833

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
low complexity region	57	64	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146382

Predicted Effect

probably benign
Transcript: ENSMUST00000194392

SMART Domains

Protein: ENSMUSP00000141974
Gene: ENSMUSG00000036850

Domain	Start	End	E-Value	Type
Pfam:MRP-L27	56	98	1.1e-12	PFAM

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8	T	C	17: 32,536,254 (GRCm39)	Y53C	probably damaging	Het
Ampd3	C	T	7: 110,402,354 (GRCm39)	R453C	probably benign	Het
Apob	A	C	12: 8,060,197 (GRCm39)	D2860A	probably damaging	Het
Arhgef1	C	A	7: 24,607,784 (GRCm39)	R52S	possibly damaging	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Cacna1i	A	T	15: 80,266,220 (GRCm39)	D1569V	probably damaging	Het
Clic6	A	T	16: 92,296,196 (GRCm39)	E285D	probably damaging	Het
Dok5	T	G	2: 170,671,876 (GRCm39)		probably null	Het
Gpr89	A	G	3: 96,805,839 (GRCm39)	F24S	probably damaging	Het
Grsf1	T	C	5: 88,818,137 (GRCm39)	D84G	probably damaging	Het
Kif27	T	C	13: 58,491,703 (GRCm39)	K479E	probably damaging	Het
Mx2	A	T	16: 97,345,678 (GRCm39)	N32I	probably damaging	Het
Myo16	G	T	8: 10,488,889 (GRCm39)	V687F	probably damaging	Het
Nlrp3	A	G	11: 59,456,769 (GRCm39)	D977G	probably damaging	Het
Nol6	A	T	4: 41,123,374 (GRCm39)	V97E	possibly damaging	Het
Pcdh15	T	A	10: 74,021,177 (GRCm39)	Y130*	probably null	Het
Pramel51	A	T	12: 88,143,882 (GRCm39)	D310E	probably benign	Het
Prcc	A	T	3: 87,779,515 (GRCm39)		probably null	Het
Sbf2	A	C	7: 109,975,039 (GRCm39)		probably benign	Het
Secisbp2l	C	A	2: 125,585,776 (GRCm39)	V859F	probably damaging	Het
Sptbn2	C	A	19: 4,774,733 (GRCm39)	Q129K	possibly damaging	Het
Srrm2	G	A	17: 24,031,452 (GRCm39)	S295N	probably benign	Het
Tacr3	A	C	3: 134,560,582 (GRCm39)	I174L	probably benign	Het
Tchp	A	C	5: 114,846,794 (GRCm39)	D27A	probably benign	Het
Usp31	A	T	7: 121,247,873 (GRCm39)	V1190D	probably damaging	Het
Zfp462	A	G	4: 55,023,576 (GRCm39)	T2122A	probably benign	Het

Other mutations in Pnpla7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20