Mutagenetix > Incidental Mutation

Incidental Mutation 'R7526:Pnpla7'

582958

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

Essential gene?

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

Stock #

R7526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24976033-25054057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24998666 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 376 (R376G)

Ref Sequence

ENSEMBL: ENSMUSP00000044078 (fasta)

Gene Model

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

AlphaFold

A2AJ88

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045295
AA Change: R376G

PolyPhen 2 Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: R376G

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152777

SMART Domains

Protein: ENSMUSP00000122394
Gene: ENSMUSG00000036833

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

Meta Mutation Damage Score

0.0965

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,152,981	F85I	unknown	Het
Ankrd22	A	T	19: 34,149,365	W22R	possibly damaging	Het
Aqr	A	T	2: 114,108,109	H1287Q	probably damaging	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atp8b5	A	G	4: 43,366,609	E791G	probably damaging	Het
Bicd1	T	G	6: 149,513,726	S646A	possibly damaging	Het
Bmpr1b	A	T	3: 141,856,599	Y276N	probably damaging	Het
Cadps2	T	C	6: 23,496,851	H465R	probably damaging	Het
Card11	A	T	5: 140,913,429		probably null	Het
Ccdc9	A	G	7: 16,282,400	L139P	probably damaging	Het
Cdk5rap3	A	T	11: 96,909,945	M355K	probably benign	Het
Cnot2	A	T	10: 116,507,080	V116E	probably benign	Het
Defb48	A	G	14: 62,977,831	V32A	possibly damaging	Het
Dmkn	A	G	7: 30,777,651	D460G	possibly damaging	Het
Dmxl2	A	G	9: 54,400,957	V2170A	possibly damaging	Het
Dnah1	A	T	14: 31,287,876	F1912I	possibly damaging	Het
Dok3	C	T	13: 55,527,493	V71I	probably benign	Het
Dzip3	A	T	16: 48,975,474	F178Y	probably damaging	Het
Enpp1	T	C	10: 24,674,410		probably null	Het
Eogt	A	G	6: 97,113,952	F409L	probably damaging	Het
Erich6	A	T	3: 58,630,689	L218H	probably damaging	Het
Fam186a	G	C	15: 99,941,915	I2149M	possibly damaging	Het
Fat1	G	A	8: 45,023,427	V1837I	probably damaging	Het
Flrt3	T	A	2: 140,660,206	T501S	probably damaging	Het
Fmn1	A	C	2: 113,688,134	E1365D	probably damaging	Het
Fzd5	G	T	1: 64,736,092	P170Q	probably benign	Het
Gm13101	A	T	4: 143,965,817	C205S	probably benign	Het
Gm14326	G	A	2: 177,946,505	H233Y	probably damaging	Het
Gm19410	G	A	8: 35,790,612	V735M	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm2832	A	T	14: 41,280,962	I143L		Het
Gm7534	T	C	4: 134,200,073		probably null	Het
Greb1	G	A	12: 16,716,765	T344I	probably benign	Het
Grik2	A	T	10: 49,523,822	Y271N	possibly damaging	Het
Grin3b	A	G	10: 79,973,051	N212D	probably benign	Het
Hgsnat	A	G	8: 25,971,049	L187P	probably damaging	Het
Hmcn1	A	G	1: 150,656,573	I3152T	probably damaging	Het
Hsp90aa1	A	T	12: 110,695,294	I96N	unknown	Het
Il18r1	T	A	1: 40,471,772	L6I	probably damaging	Het
Ing3	G	A	6: 21,953,799	V80I	probably damaging	Het
Kif18b	T	C	11: 102,914,667	I255V	probably damaging	Het
Kif2c	A	T	4: 117,182,432	N20K	possibly damaging	Het
Mfsd6l	T	C	11: 68,558,038	W572R	probably damaging	Het
Mybphl	A	G	3: 108,374,180	T71A	probably benign	Het
Myo7a	G	T	7: 98,085,448	T613K	possibly damaging	Het
Nfatc3	T	C	8: 106,079,083	S195P	probably damaging	Het
Nrg1	T	C	8: 31,818,323	N603S	probably benign	Het
Olfr1054	A	T	2: 86,333,353	M1K	probably null	Het
Olfr1084	A	G	2: 86,639,669	I13T	possibly damaging	Het
Olfr629	T	C	7: 103,740,400	Y280C	probably damaging	Het
Parp8	T	C	13: 116,894,805	E457G	probably damaging	Het
Pclo	T	C	5: 14,521,062	F154L	probably benign	Het
Pear1	A	G	3: 87,752,568	S704P	probably damaging	Het
Pkib	A	G	10: 57,736,298	T92A	probably benign	Het
Ptprd	T	A	4: 76,066,327	E527D	probably benign	Het
Pum1	T	C	4: 130,747,026	V469A	probably damaging	Het
Rnf148	G	A	6: 23,654,284	Q238*	probably null	Het
Scn9a	A	C	2: 66,483,646	N1909K	probably benign	Het
Sema3c	A	T	5: 17,727,596	H699L	possibly damaging	Het
Sema3f	A	T	9: 107,689,728	C201S	probably damaging	Het
Serinc2	T	A	4: 130,258,790	D206V	probably benign	Het
Serping1	A	T	2: 84,767,293	S415T	probably benign	Het
Sirpb1b	A	T	3: 15,548,872	L50Q	probably damaging	Het
Slc25a22	T	C	7: 141,431,383	E262G	probably benign	Het
Slc5a8	A	G	10: 88,902,491	I205M	probably damaging	Het
Sod2	G	T	17: 13,008,031		probably benign	Het
Tec	T	C	5: 72,786,019	I118V	probably benign	Het
Tenm3	A	T	8: 48,287,812	V1212E	probably damaging	Het
Tex44	G	A	1: 86,426,515	V49I	probably benign	Het
Tmem132d	A	T	5: 127,784,141	L972*	probably null	Het
Tpte	G	A	8: 22,325,547		probably null	Het
Trim6	T	A	7: 104,232,832	I456N	probably damaging	Het
Ubr4	G	C	4: 139,422,417	V520L	probably benign	Het
Ubxn8	A	T	8: 33,633,607	N101K	probably benign	Het
Vmn2r60	AG	A	7: 42,195,734		probably null	Het
Vmn2r83	A	G	10: 79,491,558	T667A	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	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
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'- TCCCCTGGCAAGTGCTAATAG -3'
(R):5'- TGGTCAGGACAAGCTGACAC -3'

Sequencing Primer
(F):5'- AGTAAGATTGCTTGAAGTCCCTG -3'
(R):5'- CTGGGGGACAGGACACCTTAAC -3'

Posted On

2019-10-17