Mutagenetix > Incidental Mutations

Incidental Mutation 'R6284:Pnpla7'

508087

Institutional Source

Beutler Lab

Gene Symbol

Pnpla7

Ensembl Gene

ENSMUSG00000036833

Gene Name

patatin-like phospholipase domain containing 7

Synonyms

NRE, E430013P11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R6284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24976033-25054057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25016618 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 664 (D664E)

Ref Sequence

ENSEMBL: ENSMUSP00000044078 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045295
AA Change: D664E

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: D664E

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (64/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	G	T	6: 72,347,454	G16C	probably damaging	Het
Abca7	G	A	10: 80,004,410	V801I	probably benign	Het
Adgrl2	A	T	3: 148,826,507	L1030Q	probably damaging	Het
Akap1	T	C	11: 88,844,568	T423A	possibly damaging	Het
Anpep	T	A	7: 79,825,802	D111V	probably damaging	Het
Atm	T	A	9: 53,445,376		probably null	Het
Atp5a1	T	A	18: 77,778,468	S106T	probably benign	Het
Atp5k	T	C	5: 108,434,059	I20V	probably benign	Het
Atp6v0d2	T	A	4: 19,922,605		probably null	Het
Bclaf1	T	G	10: 20,322,160		probably null	Het
Bod1l	A	G	5: 41,818,787	V1728A	probably benign	Het
Braf	A	G	6: 39,688,282	F51L	possibly damaging	Het
Camsap2	A	G	1: 136,304,437	I140T	possibly damaging	Het
Ccdc24	A	T	4: 117,869,653		probably null	Het
Cdh26	G	C	2: 178,449,884	G79R	probably damaging	Het
Cenpf	A	G	1: 189,652,742	L2447P	probably damaging	Het
Cfap74	T	C	4: 155,451,796	F863L	probably damaging	Het
Clstn2	C	T	9: 97,454,674	G917S	probably benign	Het
Col6a6	A	T	9: 105,727,227		probably null	Het
Cul5	G	A	9: 53,623,735	P596L	probably damaging	Het
Dst	A	T	1: 34,229,085	R2863W	probably damaging	Het
Dthd1	A	G	5: 62,814,041	E69G	possibly damaging	Het
Erich2	T	A	2: 70,539,684	I402N	probably damaging	Het
Fam160a1	G	A	3: 85,672,688	P737S	probably benign	Het
Fam162b	T	C	10: 51,585,502	K155R	probably damaging	Het
Glb1l2	A	T	9: 26,767,448	S466T	probably benign	Het
Gm21994	T	A	2: 150,255,278	Y77F	possibly damaging	Het
Gm5724	T	C	6: 141,725,393	D451G	probably damaging	Het
Ikbkap	A	T	4: 56,762,281	I1106K	probably damaging	Het
Kazn	G	A	4: 142,117,197	L402F	probably benign	Het
Kcnj13	A	T	1: 87,386,886	S205T	probably damaging	Het
Lama1	T	A	17: 67,810,096	V2462E	probably damaging	Het
Lce1b	A	C	3: 92,656,104	C41G	unknown	Het
Lyar	T	A	5: 38,225,995	W77R	probably damaging	Het
March11	G	A	15: 26,409,346	R377Q	probably benign	Het
Mis18bp1	A	G	12: 65,138,787	F869L	probably benign	Het
Myom1	T	A	17: 71,022,892	Y6*	probably null	Het
Myzap	T	C	9: 71,558,925	I150V	probably benign	Het
Nop14	C	T	5: 34,641,491		probably null	Het
Oprl1	T	A	2: 181,717,991		probably benign	Het
Pacsin1	T	C	17: 27,708,504	L432P	probably damaging	Het
Peak1	A	G	9: 56,260,296	L116P	probably benign	Het
Plcb2	C	T	2: 118,717,301	V482M	probably benign	Het
Pnliprp1	T	A	19: 58,734,984	I269N	probably damaging	Het
Ppa2	G	A	3: 133,370,417	R269H	probably benign	Het
Rps6kb2	G	T	19: 4,161,187	T113K	probably benign	Het
Rrp7a	A	T	15: 83,121,860	I63N	probably damaging	Het
Slc29a1	A	G	17: 45,589,921		probably null	Het
Stxbp5	A	C	10: 9,767,179	S1059A	probably benign	Het
Stxbp5	C	A	10: 9,767,187	G1056V	probably damaging	Het
Taldo1	T	A	7: 141,398,583	S149T	possibly damaging	Het
Tlr1	T	C	5: 64,927,099	D45G	possibly damaging	Het
Tnrc6a	T	C	7: 123,171,335	S783P	probably damaging	Het
Trap1	A	G	16: 4,060,809	Y220H	probably benign	Het
Trpc6	A	G	9: 8,643,600	D462G	possibly damaging	Het
Ttc21a	A	G	9: 119,943,962	E235G	probably damaging	Het
Tubb4a	A	G	17: 57,080,833	Y398H	probably damaging	Het
Ube2z	A	G	11: 96,050,407	F303S	probably damaging	Het
Vmn1r211	A	G	13: 22,852,084	S138P	probably damaging	Het
Zfp93	T	A	7: 24,275,629	C346*	probably null	Het
Zfp938	A	T	10: 82,227,566	S52R	possibly damaging	Het
Zp1	A	T	19: 10,916,503	L446Q	probably damaging	Het

Other mutations in Pnpla7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Pnpla7	APN	2	24976315	critical splice donor site	probably null
IGL00765:Pnpla7	APN	2	24980224	missense	probably damaging	0.98
IGL01576:Pnpla7	APN	2	25016563	missense	probably damaging	1.00
IGL01626:Pnpla7	APN	2	25050893	missense	possibly damaging	0.58
IGL01844:Pnpla7	APN	2	25050973	critical splice donor site	probably null
IGL02280:Pnpla7	APN	2	25011577	missense	probably benign	0.00
IGL02629:Pnpla7	APN	2	25050945	missense	probably damaging	1.00
IGL02642:Pnpla7	APN	2	25050276	missense	probably benign	0.24
IGL02931:Pnpla7	APN	2	25015229	missense	possibly damaging	0.87
IGL03162:Pnpla7	APN	2	25015289	unclassified	probably benign
PIT4495001:Pnpla7	UTSW	2	25042139	missense	probably damaging	0.99
R0047:Pnpla7	UTSW	2	25011606	missense	probably damaging	1.00
R0047:Pnpla7	UTSW	2	25011606	missense	probably damaging	1.00
R0064:Pnpla7	UTSW	2	24997227	nonsense	probably null
R0064:Pnpla7	UTSW	2	24997227	nonsense	probably null
R0309:Pnpla7	UTSW	2	24987195	missense	probably damaging	1.00
R0541:Pnpla7	UTSW	2	24995293	missense	probably damaging	0.99
R0556:Pnpla7	UTSW	2	25052301	splice site	probably null
R0565:Pnpla7	UTSW	2	24980117	splice site	probably benign
R0830:Pnpla7	UTSW	2	24997255	missense	probably damaging	1.00
R0865:Pnpla7	UTSW	2	24982123	missense	probably benign	0.34
R0893:Pnpla7	UTSW	2	24997240	missense	probably damaging	1.00
R0969:Pnpla7	UTSW	2	25050953	missense	probably damaging	1.00
R1102:Pnpla7	UTSW	2	24996165	missense	probably damaging	1.00
R1551:Pnpla7	UTSW	2	25047708	missense	probably benign	0.01
R1572:Pnpla7	UTSW	2	25015251	missense	possibly damaging	0.69
R1623:Pnpla7	UTSW	2	25052599	missense	probably damaging	1.00
R1876:Pnpla7	UTSW	2	25040973	missense	possibly damaging	0.91
R1898:Pnpla7	UTSW	2	25053784	unclassified	probably benign
R1909:Pnpla7	UTSW	2	24997288	missense	possibly damaging	0.75
R1973:Pnpla7	UTSW	2	25016617	missense	probably damaging	1.00
R2230:Pnpla7	UTSW	2	25051598	unclassified	probably benign
R2381:Pnpla7	UTSW	2	24980758	missense	probably damaging	1.00
R2655:Pnpla7	UTSW	2	25052318	missense	probably damaging	1.00
R3125:Pnpla7	UTSW	2	25042138	missense	probably damaging	1.00
R4223:Pnpla7	UTSW	2	24982114	missense	possibly damaging	0.69
R4411:Pnpla7	UTSW	2	25051704	nonsense	probably null
R4573:Pnpla7	UTSW	2	25050873	missense	probably damaging	0.98
R4674:Pnpla7	UTSW	2	25052317	missense	probably damaging	1.00
R4841:Pnpla7	UTSW	2	24980052	missense	probably benign	0.05
R4842:Pnpla7	UTSW	2	24980052	missense	probably benign	0.05
R4893:Pnpla7	UTSW	2	25053676	nonsense	probably null
R4941:Pnpla7	UTSW	2	24997264	unclassified	probably null
R5116:Pnpla7	UTSW	2	25021970	missense	probably damaging	0.97
R5126:Pnpla7	UTSW	2	24980044	missense	possibly damaging	0.83
R5138:Pnpla7	UTSW	2	25041103	missense	possibly damaging	0.88
R5169:Pnpla7	UTSW	2	25050309	missense	probably benign	0.03
R5188:Pnpla7	UTSW	2	24997300	missense	probably benign	0.06
R5288:Pnpla7	UTSW	2	25041019	missense	probably damaging	0.97
R5307:Pnpla7	UTSW	2	25021952	missense	possibly damaging	0.81
R5339:Pnpla7	UTSW	2	25002937	missense	probably benign	0.10
R5384:Pnpla7	UTSW	2	25041019	missense	probably damaging	0.97
R5385:Pnpla7	UTSW	2	25041019	missense	probably damaging	0.97
R5479:Pnpla7	UTSW	2	25019441	missense	possibly damaging	0.90
R5640:Pnpla7	UTSW	2	25003001	missense	possibly damaging	0.92
R5662:Pnpla7	UTSW	2	25052384	missense	probably damaging	1.00
R5751:Pnpla7	UTSW	2	24981778	missense	probably damaging	0.97
R5874:Pnpla7	UTSW	2	25011649	missense	probably benign
R6351:Pnpla7	UTSW	2	25011564	missense	probably damaging	0.97
R6513:Pnpla7	UTSW	2	25016538	missense	possibly damaging	0.62
R7193:Pnpla7	UTSW	2	25051615	missense	probably damaging	1.00
R7503:Pnpla7	UTSW	2	24983532	nonsense	probably null
R7526:Pnpla7	UTSW	2	24998666	missense	possibly damaging	0.52
R7791:Pnpla7	UTSW	2	25052066	missense	probably damaging	1.00
Z1177:Pnpla7	UTSW	2	24998759	missense	probably null	0.06

Predicted Primers

PCR Primer
(F):5'- TATTCACTGGTTACATCCTGGG -3'
(R):5'- GGACCAGAATTGTGGCTTGC -3'

Sequencing Primer
(F):5'- GTGGTCAGCTGTCATGGAGC -3'
(R):5'- TGTGGCTTGCCCAGAAGG -3'

Posted On

2018-03-15