Mutagenetix > Incidental Mutation

Incidental Mutation 'R6280:Lpin2'

507936

Institutional Source

Beutler Lab

Gene Symbol

Lpin2

Ensembl Gene

ENSMUSG00000024052

Gene Name

lipin 2

Synonyms

2610511G02Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.400) question?

Stock #

R6280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71182560-71249817 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 71232248 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126681] [ENSMUST00000129635] [ENSMUST00000135589] [ENSMUST00000156570]

AlphaFold

Q99PI5

Predicted Effect

probably benign
Transcript: ENSMUST00000126681

SMART Domains

Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	39	148	1e-47	PFAM
low complexity region	191	206	N/A	INTRINSIC
low complexity region	217	227	N/A	INTRINSIC
low complexity region	398	420	N/A	INTRINSIC
Pfam:Lipin_mid	504	596	6.1e-37	PFAM
LNS2	720	876	2.18e-107	SMART
low complexity region	924	930	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129635

SMART Domains

Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	1	114	2.2e-53	PFAM
low complexity region	153	168	N/A	INTRINSIC
low complexity region	179	189	N/A	INTRINSIC
low complexity region	360	382	N/A	INTRINSIC
LNS2	682	838	2.18e-107	SMART
low complexity region	886	892	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130750

Predicted Effect

probably benign
Transcript: ENSMUST00000135589

SMART Domains

Protein: ENSMUSP00000115061
Gene: ENSMUSG00000024052

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	39	152	2.3e-54	PFAM
low complexity region	191	206	N/A	INTRINSIC
low complexity region	217	227	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142842

Predicted Effect

unknown
Transcript: ENSMUST00000156570
AA Change: R444G

SMART Domains

Protein: ENSMUSP00000120634
Gene: ENSMUSG00000024052
AA Change: R444G

Domain	Start	End	E-Value	Type
Pfam:Lipin_N	1	114	8.5e-54	PFAM
low complexity region	153	168	N/A	INTRINSIC
low complexity region	179	189	N/A	INTRINSIC
low complexity region	360	382	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180743

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice develop ataxia, impaired blance, and tremors with age and show altered cerebellar phospholipid composition and anemia. Mice show diet-induced hepatic triglyceride accumulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,327,057	S534P	probably damaging	Het
4930452B06Rik	T	G	14: 8,473,414		probably null	Het
Abca12	C	T	1: 71,272,460	D1930N	probably benign	Het
Adam8	A	G	7: 139,984,807	L667S	probably damaging	Het
Adcy4	A	T	14: 55,779,043	I317N	probably damaging	Het
Agpat3	A	G	10: 78,285,038	F102S	probably damaging	Het
Apbb2	A	T	5: 66,364,982	W443R	probably damaging	Het
BC049715	T	A	6: 136,840,231	Y156*	probably null	Het
Bpifc	C	T	10: 85,977,712	V323I	probably benign	Het
Camp	T	G	9: 109,847,509	I149L	probably benign	Het
Cnih1	A	G	14: 46,788,177		probably null	Het
Col18a1	A	T	10: 77,112,489		probably benign	Het
Dsg4	A	T	18: 20,466,667	D780V	probably damaging	Het
Dync1i1	G	A	6: 5,972,084	V442I	probably benign	Het
Fam83g	G	T	11: 61,703,182	S514I	probably benign	Het
Fam92b	A	G	8: 120,172,119	I94T	possibly damaging	Het
Fbxo7	A	G	10: 86,029,105	N93D	probably benign	Het
Fgf20	G	T	8: 40,281,112	S76*	probably null	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Fxr1	G	A	3: 34,046,252		probably benign	Het
Gon4l	T	A	3: 88,890,888	L800H	probably damaging	Het
Gpn3	T	A	5: 122,373,959	S33T	probably benign	Het
Gria4	T	C	9: 4,456,072	M743V	probably damaging	Het
Hira	A	G	16: 18,910,707	N109D	probably damaging	Het
Hsd3b3	A	G	3: 98,753,305		probably null	Het
Hsf2	T	G	10: 57,511,495	S370A	probably benign	Het
Htt	T	A	5: 34,870,759	D1786E	probably benign	Het
Ifit1bl2	T	A	19: 34,620,134	R27S	possibly damaging	Het
Il17rb	G	A	14: 30,002,971	A186V	probably benign	Het
Irak4	G	T	15: 94,551,810	E57*	probably null	Het
Kcnh2	T	A	5: 24,331,923	H221L	probably benign	Het
Kdm2b	T	C	5: 122,878,624	N1149D	probably damaging	Het
Kif26a	A	G	12: 112,174,869	H702R	probably damaging	Het
Kmt2e	T	C	5: 23,499,516	S1236P	possibly damaging	Het
Krt77	T	A	15: 101,865,475	D248V	probably damaging	Het
Lgals3bp	T	C	11: 118,393,280	N52S	possibly damaging	Het
Lhfp	T	C	3: 53,260,514	Y170H	probably damaging	Het
Lrig3	T	C	10: 126,010,979	I872T	probably benign	Het
Lrit3	T	C	3: 129,788,763	E525G	probably damaging	Het
Lrp1	T	C	10: 127,589,584	T726A	probably benign	Het
Mep1a	A	T	17: 43,502,392	N46K	probably damaging	Het
Muc16	C	A	9: 18,579,317		probably null	Het
N4bp1	A	C	8: 86,853,166	N669K	possibly damaging	Het
Nelfcd	A	G	2: 174,415,946	D26G	probably benign	Het
Neu4	G	A	1: 94,025,151	S414N	probably damaging	Het
Nudt9	A	G	5: 104,065,069	D336G	probably benign	Het
Obscn	C	A	11: 59,063,683	G3691V	possibly damaging	Het
Olfr1102	A	G	2: 87,002,020	N17S	probably damaging	Het
Olfr1263	A	C	2: 90,015,049	I40L	possibly damaging	Het
Pdgfd	T	A	9: 6,288,627	S94T	probably benign	Het
Picalm	A	G	7: 90,177,562	H290R	probably benign	Het
Pou2f3	A	T	9: 43,139,339	L242Q	probably damaging	Het
Pou2f3	G	T	9: 43,139,340	L242M	probably damaging	Het
Prkd3	C	T	17: 78,981,931	G187D	probably damaging	Het
Pwp1	A	G	10: 85,874,462	S49G	probably damaging	Het
Ralgapa2	A	G	2: 146,342,209	L1626P	probably damaging	Het
Rin2	A	G	2: 145,861,019	Y545C	probably damaging	Het
Rwdd4a	A	G	8: 47,542,797	T71A	probably benign	Het
Senp7	T	C	16: 56,162,375	F504L	possibly damaging	Het
Slc12a6	A	G	2: 112,337,358	T231A	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Slc17a2	A	G	13: 23,822,394	S468G	probably benign	Het
Slc4a10	A	G	2: 62,281,966	N697S	probably benign	Het
Spint1	T	A	2: 119,245,278	V194E	possibly damaging	Het
Sptlc2	A	T	12: 87,388,131	M14K	probably benign	Het
Stard9	A	G	2: 120,701,127	K2622E	probably benign	Het
Tbc1d5	T	C	17: 50,782,310	N614S	probably benign	Het
Tdpoz2	A	T	3: 93,651,883	C261S	probably benign	Het
Tmem150b	A	T	7: 4,724,374	I44N	probably benign	Het
Ttn	A	G	2: 76,778,158	L17807P	probably damaging	Het
Vcan	G	A	13: 89,725,373	R121W	probably damaging	Het
Vmn2r15	T	A	5: 109,293,425	H189L	possibly damaging	Het
Vmn2r19	A	G	6: 123,336,253	S761G	probably benign	Het
Wdr11	A	T	7: 129,599,106	K34*	probably null	Het
Zfp120	A	T	2: 150,118,044	S141R	possibly damaging	Het
Zfp462	C	G	4: 55,010,253	P740A	probably benign	Het

Other mutations in Lpin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Lpin2	APN	17	71243972	missense	probably damaging	1.00
IGL01712:Lpin2	APN	17	71215068	missense	probably damaging	1.00
IGL01727:Lpin2	APN	17	71246452	missense	probably damaging	1.00
IGL01969:Lpin2	APN	17	71231507	missense	probably benign	0.00
IGL02143:Lpin2	APN	17	71243926	missense	probably damaging	1.00
IGL02600:Lpin2	APN	17	71238698	missense	probably damaging	0.99
IGL02931:Lpin2	APN	17	71238683	missense	probably damaging	1.00
aspen	UTSW	17	71243970	nonsense	probably null
R1570_Lpin2_218	UTSW	17	71245181	nonsense	probably null
R0144:Lpin2	UTSW	17	71225076	missense	probably damaging	1.00
R0165:Lpin2	UTSW	17	71246519	missense	probably damaging	1.00
R0367:Lpin2	UTSW	17	71215022	missense	probably damaging	1.00
R0648:Lpin2	UTSW	17	71229312	missense	probably benign	0.01
R1564:Lpin2	UTSW	17	71225060	missense	probably benign	0.01
R1570:Lpin2	UTSW	17	71245181	nonsense	probably null
R1846:Lpin2	UTSW	17	71225069	missense	probably benign	0.00
R3607:Lpin2	UTSW	17	71229392	missense	probably damaging	1.00
R4006:Lpin2	UTSW	17	71246501	missense	probably damaging	1.00
R4526:Lpin2	UTSW	17	71237378	splice site	probably null
R4705:Lpin2	UTSW	17	71232143	unclassified	probably benign
R4949:Lpin2	UTSW	17	71231339	missense	probably damaging	1.00
R4970:Lpin2	UTSW	17	71231334	missense	probably damaging	0.98
R5099:Lpin2	UTSW	17	71243970	nonsense	probably null
R5100:Lpin2	UTSW	17	71243970	nonsense	probably null
R5101:Lpin2	UTSW	17	71243970	nonsense	probably null
R5152:Lpin2	UTSW	17	71245159	missense	probably damaging	1.00
R5216:Lpin2	UTSW	17	71242760	missense	probably damaging	1.00
R5321:Lpin2	UTSW	17	71246858	missense	probably damaging	1.00
R5457:Lpin2	UTSW	17	71243372	missense	probably damaging	1.00
R5695:Lpin2	UTSW	17	71244803	missense	probably damaging	1.00
R5786:Lpin2	UTSW	17	71230273	missense	probably benign	0.03
R5869:Lpin2	UTSW	17	71232276	unclassified	probably benign
R5894:Lpin2	UTSW	17	71246934	missense	probably benign	0.39
R6116:Lpin2	UTSW	17	71243930	missense	probably damaging	1.00
R6253:Lpin2	UTSW	17	71231269	missense	probably damaging	1.00
R6443:Lpin2	UTSW	17	71241668	missense	probably benign	0.25
R6528:Lpin2	UTSW	17	71244005	missense	probably damaging	1.00
R6634:Lpin2	UTSW	17	71246418	missense	probably damaging	1.00
R6828:Lpin2	UTSW	17	71222128	missense	probably damaging	1.00
R6885:Lpin2	UTSW	17	71215150	missense	probably damaging	1.00
R6930:Lpin2	UTSW	17	71244791	missense	probably damaging	1.00
R7067:Lpin2	UTSW	17	71244858	missense	possibly damaging	0.72
R7583:Lpin2	UTSW	17	71231396	nonsense	probably null
R7806:Lpin2	UTSW	17	71245171	missense	probably damaging	1.00
R7840:Lpin2	UTSW	17	71230274	missense	probably benign	0.14
R8011:Lpin2	UTSW	17	71230375	missense	probably benign	0.43
R8553:Lpin2	UTSW	17	71231237	missense	probably damaging	1.00
R8879:Lpin2	UTSW	17	71242754	missense	probably damaging	1.00
R8947:Lpin2	UTSW	17	71204876	missense	probably benign	0.44
R8983:Lpin2	UTSW	17	71246967	missense	unknown
R9109:Lpin2	UTSW	17	71231521	critical splice donor site	probably null
R9184:Lpin2	UTSW	17	71233916	nonsense	probably null
R9242:Lpin2	UTSW	17	71246971	makesense	probably null
R9447:Lpin2	UTSW	17	71232092	missense	unknown
R9573:Lpin2	UTSW	17	71231190	missense	probably benign	0.00
R9603:Lpin2	UTSW	17	71243415	missense	probably damaging	1.00
R9666:Lpin2	UTSW	17	71222070	missense	probably damaging	1.00
Z1176:Lpin2	UTSW	17	71225211	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGACCTCTGCTTAGCTGAAG -3'
(R):5'- TGTGTGTCTTTTAGCAACAAGC -3'

Sequencing Primer
(F):5'- AGCTGAAGCAAAATGAAATCTTTTG -3'
(R):5'- AGCCCGATCTAAAACAATTGATATAG -3'

Posted On

2018-03-15