Mutagenetix > Incidental Mutation

Incidental Mutation 'R1909:Pnpla7'

210112

Institutional Source

Beutler Lab

Gene Symbol

Pnpla7

Ensembl Gene

ENSMUSG00000036833

Gene Name

patatin-like phospholipase domain containing 7

Synonyms

NRE, E430013P11Rik

MMRRC Submission

039928-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R1909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24976033-25054057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24997288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 48 (M48K)

Ref Sequence

ENSEMBL: ENSMUSP00000117907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045295] [ENSMUST00000137913] [ENSMUST00000146153] [ENSMUST00000152777]

AlphaFold

A2AJ88

Predicted Effect

probably benign
Transcript: ENSMUST00000045295
AA Change: M340K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: M340K

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

noncoding transcript
Transcript: ENSMUST00000119442

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

noncoding transcript
Transcript: ENSMUST00000145508

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146153
AA Change: M48K

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117907
Gene: ENSMUSG00000036833
AA Change: M48K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152777

SMART Domains

Protein: ENSMUSP00000122394
Gene: ENSMUSG00000036833

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.1%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	T	A	7: 34,258,036	I59L	probably benign	Het
9530053A07Rik	T	C	7: 28,144,348	V887A	possibly damaging	Het
Aarsd1	A	C	11: 101,410,231		probably null	Het
Abcc5	A	G	16: 20,376,509		probably null	Het
Abcc6	T	C	7: 46,020,134		probably null	Het
Adam15	C	A	3: 89,345,330	M317I	probably benign	Het
Ago3	T	C	4: 126,346,737	T111A	probably damaging	Het
Amz1	G	T	5: 140,752,461	S492I	probably benign	Het
Arid1a	T	C	4: 133,693,761	N911S	unknown	Het
Arntl2	A	T	6: 146,810,810	E111V	probably benign	Het
Ascl2	C	A	7: 142,968,163	A115S	probably damaging	Het
Ash1l	T	C	3: 88,984,528	V1238A	probably benign	Het
Asxl2	G	T	12: 3,474,577	V202F	probably damaging	Het
Atp10a	A	T	7: 58,828,712	Q1501L	probably benign	Het
Avpr1a	A	T	10: 122,452,208	I374L	probably benign	Het
Bmx	T	C	X: 164,239,415	H157R	probably benign	Het
Camk4	T	A	18: 33,158,816		probably null	Het
Ccdc103	G	A	11: 102,882,566	D5N	probably benign	Het
Ccdc186	A	T	19: 56,793,361	N70K	probably damaging	Het
Cebpz	A	T	17: 78,934,907	Y439*	probably null	Het
Cfap206	A	C	4: 34,722,714	S122R	probably benign	Het
Cnst	T	C	1: 179,622,791	S607P	probably damaging	Het
Col8a2	C	A	4: 126,312,133	D645E	possibly damaging	Het
Cpsf4l	A	T	11: 113,703,378		probably null	Het
Crim1	C	T	17: 78,313,127	T332I	probably benign	Het
Csmd1	A	T	8: 15,906,116	Y3364N	probably damaging	Het
D5Ertd579e	A	T	5: 36,614,058	S998T	probably benign	Het
Dab2ip	C	G	2: 35,718,815	A587G	probably damaging	Het
Dach1	C	T	14: 97,901,393	G486D	probably damaging	Het
Ddx24	T	C	12: 103,409,982	I752V	probably damaging	Het
Dhx33	A	G	11: 70,989,107	V359A	probably benign	Het
Dip2c	A	T	13: 9,533,350	T123S	probably benign	Het
Dync1h1	G	A	12: 110,662,629	E4207K	probably damaging	Het
Eef1b2	G	T	1: 63,177,272	D21Y	probably damaging	Het
Eif3b	T	C	5: 140,432,937	S462P	probably damaging	Het
Elmod2	G	C	8: 83,316,369	R277G	probably benign	Het
Epg5	T	A	18: 77,959,032	D555E	probably benign	Het
Ercc8	A	T	13: 108,175,566	K172*	probably null	Het
Fat3	T	C	9: 15,998,115	N2197S	probably benign	Het
Fbf1	A	G	11: 116,145,992	V972A	possibly damaging	Het
Fes	T	C	7: 80,386,861	R113G	probably damaging	Het
Fzd1	G	T	5: 4,757,481	H34N	probably benign	Het
Galnt17	T	A	5: 131,111,838	Y147F	probably benign	Het
Gdf6	T	C	4: 9,859,971	L351P	probably damaging	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gm15448	A	T	7: 3,822,919	I317N	probably benign	Het
Gm2381	A	T	7: 42,819,928	H257Q	probably damaging	Het
Gm6904	A	T	14: 59,258,613	S17R	probably benign	Het
Gm9844	T	C	7: 24,862,306	I10T	possibly damaging	Het
Hivep1	A	T	13: 42,155,646	K454M	probably benign	Het
Hmmr	T	A	11: 40,708,098	E566D	probably damaging	Het
Hydin	T	G	8: 110,587,772	V4296G	probably damaging	Het
Il18r1	T	A	1: 40,474,914	D93E	probably damaging	Het
Iqgap1	T	C	7: 80,743,828	D667G	probably benign	Het
Lama3	T	C	18: 12,581,798	I3278T	probably benign	Het
Lrp4	T	A	2: 91,498,408	V1551D	possibly damaging	Het
Mdn1	CGGAGGAGGAGGAGGAG	CGGAGGAGGAGGAG	4: 32,760,839		probably benign	Het
Mga	T	A	2: 119,926,594	H1018Q	possibly damaging	Het
Ncoa7	A	T	10: 30,689,800	M666K	probably damaging	Het
Ndnf	T	G	6: 65,703,313	V192G	possibly damaging	Het
Nr4a1	T	A	15: 101,274,227	I594N	probably damaging	Het
Olfr1294	T	A	2: 111,538,014	I92F	probably damaging	Het
Olfr60	T	C	7: 140,345,465	I175V	probably benign	Het
Olfr618	A	G	7: 103,597,343	N9S	probably benign	Het
Olfr635	G	A	7: 103,979,790	W199*	probably null	Het
Olfr698	T	C	7: 106,752,995	N131S	probably benign	Het
Paxbp1	T	C	16: 91,044,305		probably benign	Het
Pcdhb8	A	G	18: 37,355,962	E231G	possibly damaging	Het
Pcsk5	A	T	19: 17,433,461	Y1856N	probably benign	Het
Pde3a	T	C	6: 141,250,239	V217A	probably benign	Het
Pirb	A	T	7: 3,714,588	D674E	probably benign	Het
Pnisr	T	A	4: 21,869,517	M335K	possibly damaging	Het
Pomgnt2	A	T	9: 121,982,191	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Prkca	A	T	11: 107,939,612	D217E	possibly damaging	Het
Rac3	A	C	11: 120,723,337	I142L	probably benign	Het
Ralgapb	G	T	2: 158,444,675	A347S	probably damaging	Het
Rbm43	G	C	2: 51,925,434	S258R	possibly damaging	Het
Rnf182	T	A	13: 43,668,423	V150E	probably benign	Het
Rsph10b	T	C	5: 143,985,491	F409L	probably benign	Het
Ryr2	A	T	13: 11,700,349	L2778M	probably damaging	Het
Scn1a	T	C	2: 66,331,352	N284S	possibly damaging	Het
Scyl2	A	T	10: 89,640,905	M786K	probably benign	Het
Sema4g	C	A	19: 44,997,622	R301S	probably damaging	Het
Senp6	A	T	9: 80,113,774	E245D	possibly damaging	Het
Setx	T	C	2: 29,163,009	V2095A	possibly damaging	Het
Slc13a2	A	T	11: 78,400,142	M412K	possibly damaging	Het
Slc25a4	T	C	8: 46,209,400	N74D	probably damaging	Het
Slc28a1	T	A	7: 81,142,035	F316L	probably damaging	Het
Slfn8	G	A	11: 83,003,621	Q731*	probably null	Het
Slitrk4	A	G	X: 64,272,623	I146T	probably damaging	Het
Smg1	A	G	7: 118,154,199		probably benign	Het
Smg8	G	T	11: 87,080,613	Y777*	probably null	Het
Smyd1	T	A	6: 71,239,579	K61N	probably benign	Het
Sod2	T	C	17: 13,015,169	*223R	probably null	Het
Sp6	G	T	11: 97,021,508	A16S	probably benign	Het
Spata31d1a	A	C	13: 59,702,695	Y540D	probably damaging	Het
Spatc1l	A	G	10: 76,563,917	D91G	probably damaging	Het
Spg7	A	G	8: 123,080,741	T419A	probably benign	Het
St5	G	A	7: 109,525,326	Q686*	probably null	Het
St8sia4	A	G	1: 95,627,573	I244T	probably damaging	Het
Tbl2	C	T	5: 135,152,991	R27W	probably damaging	Het
Tmed4	G	A	11: 6,274,694	P47L	probably damaging	Het
Tmtc1	T	C	6: 148,444,048	D51G	possibly damaging	Het
Ttc28	T	C	5: 111,284,054		probably null	Het
Unc13d	A	G	11: 116,070,295	F412S	probably damaging	Het
Unc45b	A	C	11: 82,926,087	K451T	probably damaging	Het
Vmn2r16	A	G	5: 109,363,987	M687V	probably benign	Het
Vmn2r68	T	A	7: 85,234,052	H164L	probably benign	Het
Vps51	A	G	19: 6,069,469	V625A	probably benign	Het
Wapl	T	A	14: 34,691,912	W244R	probably damaging	Het
Wdr75	C	T	1: 45,823,403	T794I	probably benign	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
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	splice site	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
R6284:Pnpla7	UTSW	2	25016618	missense	possibly damaging	0.79
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
R8262:Pnpla7	UTSW	2	24983623	missense	probably damaging	1.00
R8283:Pnpla7	UTSW	2	25050923	missense	probably damaging	1.00
R8993:Pnpla7	UTSW	2	25053419	missense	possibly damaging	0.68
R9086:Pnpla7	UTSW	2	25039697	missense	probably damaging	1.00
R9229:Pnpla7	UTSW	2	24983491	missense	probably damaging	0.98
R9494:Pnpla7	UTSW	2	25052378	nonsense	probably null
R9651:Pnpla7	UTSW	2	25002919	missense	probably benign	0.02
Z1177:Pnpla7	UTSW	2	24998759	missense	probably null	0.06

Predicted Primers

PCR Primer
(F):5'- TCTCTGAGCTGCCTGGATTC -3'
(R):5'- AAATCCTAGACCAAGAAATCTGGG -3'

Sequencing Primer
(F):5'- AGCTGCCTGGATTCCGAGTG -3'
(R):5'- TTGTAACCATGGGAGGAGCCTG -3'

Posted On

2014-06-30