Mutagenetix > Incidental Mutation

Incidental Mutation 'R2381:Pnpla7'

248451

Institutional Source

Beutler Lab

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 #

R2381 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24866045-24944069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24870770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 80 (K80T)

Ref Sequence

ENSEMBL: ENSMUSP00000044078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045295] [ENSMUST00000137913] [ENSMUST00000152777] [ENSMUST00000153618]

AlphaFold

A2AJ88

Predicted Effect

probably damaging
Transcript: ENSMUST00000045295
AA Change: K80T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: K80T

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 damaging
Transcript: ENSMUST00000137913
AA Change: K54T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141577
Gene: ENSMUSG00000036833
AA Change: K54T

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

noncoding transcript
Transcript: ENSMUST00000142139

Predicted Effect

probably benign
Transcript: ENSMUST00000152777

SMART Domains

Protein: ENSMUSP00000122394
Gene: ENSMUSG00000036833

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000153618
AA Change: K78T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117428
Gene: ENSMUSG00000036833
AA Change: K78T

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.4%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd248	G	T	19: 5,119,221 (GRCm39)	M356I	possibly damaging	Het
Cul4a	T	C	8: 13,186,887 (GRCm39)	V541A	probably benign	Het
Dnajb1	T	A	8: 84,336,971 (GRCm39)	F147Y	possibly damaging	Het
Dnhd1	A	G	7: 105,342,871 (GRCm39)	K1405R	probably benign	Het
Dpys	C	A	15: 39,705,450 (GRCm39)	R221L	probably damaging	Het
Elapor2	C	T	5: 9,430,342 (GRCm39)	P84L	probably damaging	Het
Gm12253	C	T	11: 58,326,284 (GRCm39)	R100C	probably damaging	Het
Inppl1	A	T	7: 101,478,439 (GRCm39)	S592R	probably damaging	Het
Lct	G	A	1: 128,231,858 (GRCm39)	Q664*	probably null	Het
Or7g28	T	A	9: 19,271,753 (GRCm39)	E299D	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp4r3c1	T	C	X: 88,974,116 (GRCm39)	I694V	probably benign	Het
Slc4a1	T	C	11: 102,250,128 (GRCm39)	D105G	probably benign	Het
Tpo	A	G	12: 30,181,826 (GRCm39)	I23T	possibly damaging	Het
Unc5c	A	G	3: 141,383,916 (GRCm39)	E98G	probably damaging	Het
Usp13	G	A	3: 32,935,658 (GRCm39)		probably null	Het
Vmn1r175	G	A	7: 23,508,093 (GRCm39)	T178I	probably benign	Het
Zgrf1	A	T	3: 127,349,863 (GRCm39)	M15L	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATGGTTTGTCGTCAGCACC -3'
(R):5'- ACTCAGGATGACTTAAACCATCTCC -3'

Sequencing Primer
(F):5'- AGCACCTTCACCTTCAGGG -3'
(R):5'- TCTCCTAAGCAGAGCAGATGGC -3'

Posted On

2014-11-11