Mutagenetix > Incidental Mutations

Incidental Mutation 'R1846:Lpin2'

207764

Institutional Source

Beutler Lab

Gene Symbol

Lpin2

Ensembl Gene

ENSMUSG00000024052

Gene Name

lipin 2

Synonyms

2610511G02Rik

MMRRC Submission

039871-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.420) question?

Stock #

R1846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71182560-71249817 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71225069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 140 (T140A)

Ref Sequence

ENSEMBL: ENSMUSP00000120634 (fasta)

Gene Model

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

AlphaFold

Q99PI5

Predicted Effect

probably benign
Transcript: ENSMUST00000126681
AA Change: T178A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118610
Gene: ENSMUSG00000024052
AA Change: T178A

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
AA Change: T140A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119282
Gene: ENSMUSG00000024052
AA Change: T140A

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

probably benign
Transcript: ENSMUST00000135589
AA Change: T178A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115061
Gene: ENSMUSG00000024052
AA Change: T178A

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

noncoding transcript
Transcript: ENSMUST00000149973

Predicted Effect

probably benign
Transcript: ENSMUST00000156570
AA Change: T140A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000120634
Gene: ENSMUSG00000024052
AA Change: T140A

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

99% (75/76)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	G	T	14: 49,235,963	L102I	probably damaging	Het
2900092C05Rik	G	A	7: 12,512,882	R63Q	probably benign	Het
Adamts20	A	T	15: 94,345,990	C619S	probably damaging	Het
Alx1	T	C	10: 103,025,304	D121G	possibly damaging	Het
Anks3	A	C	16: 4,953,884	M215R	probably benign	Het
Anxa4	T	A	6: 86,741,911		probably null	Het
Arhgef25	A	G	10: 127,185,864	V222A	probably damaging	Het
Bglap2	A	G	3: 88,378,625		probably benign	Het
Cars2	A	G	8: 11,514,674	V22A	probably benign	Het
Cenpe	T	A	3: 135,239,845	I1040N	probably damaging	Het
Cep170	C	T	1: 176,755,769	D1015N	probably damaging	Het
Chia1	T	A	3: 106,130,865	I359N	probably damaging	Het
Crot	A	T	5: 8,988,248	V93E	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dnmbp	T	C	19: 43,902,747	I194V	probably damaging	Het
Dock4	T	A	12: 40,733,268	C734S	probably benign	Het
Eif4e3	T	C	6: 99,640,701	S70G	probably benign	Het
Entpd3	G	A	9: 120,558,375	D213N	probably benign	Het
Ern2	T	G	7: 122,176,536	Y445S	probably benign	Het
Fasn	A	G	11: 120,813,307	S1429P	probably benign	Het
Fat4	A	G	3: 38,982,383	I3395V	probably benign	Het
Fbln2	C	A	6: 91,256,417	Q628K	possibly damaging	Het
Fbxo28	T	C	1: 182,326,280	N164D	probably benign	Het
Fez1	T	C	9: 36,867,767	S247P	probably damaging	Het
Gars	A	G	6: 55,063,168	D360G	probably benign	Het
Gcfc2	A	T	6: 81,956,892	Q710L	probably damaging	Het
Ggt5	A	G	10: 75,610,542		probably null	Het
Glp1r	A	G	17: 30,929,935		probably null	Het
Hspa14	T	C	2: 3,491,660	D356G	possibly damaging	Het
Htt	T	A	5: 34,848,944	I1399N	probably damaging	Het
Kmt2e	G	A	5: 23,499,486		probably benign	Het
Krt36	C	A	11: 100,105,548	G17C	probably damaging	Het
Lama2	T	C	10: 27,212,096	E895G	probably damaging	Het
Lamb2	G	A	9: 108,487,387	R1142H	probably benign	Het
Lhcgr	C	T	17: 88,765,147		probably null	Het
Metap1	A	G	3: 138,480,682		probably benign	Het
Mpeg1	T	C	19: 12,463,122	V648A	probably benign	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Muc4	T	A	16: 32,752,369	I749N	probably benign	Het
N4bp2	T	C	5: 65,808,519	F1304L	probably damaging	Het
Nup85	A	G	11: 115,568,413	E114G	probably benign	Het
Olfr1258	A	G	2: 89,930,666	T286A	possibly damaging	Het
Olfr1415	A	T	1: 92,491,100	Y218*	probably null	Het
Olfr448	A	G	6: 42,897,320	S290G	probably damaging	Het
Pafah2	GCCCC	GCCCCC	4: 134,425,541		probably null	Het
Parp2	T	A	14: 50,815,386	C145*	probably null	Het
Plpp6	T	C	19: 28,964,280	S94P	probably benign	Het
Polr1a	T	C	6: 71,976,188	I1580T	probably damaging	Het
Polrmt	A	T	10: 79,738,209	V860E	probably damaging	Het
Ppp1r17	A	G	6: 56,022,427	E15G	possibly damaging	Het
Prl7b1	A	T	13: 27,602,848	W133R	probably damaging	Het
Ptk7	A	G	17: 46,576,490		probably null	Het
Rad23b	C	T	4: 55,383,637	Q290*	probably null	Het
Rorb	C	T	19: 18,955,081	E369K	probably damaging	Het
Rusc1	T	C	3: 89,092,145	D110G	probably damaging	Het
Smg7	A	G	1: 152,848,850	S527P	probably damaging	Het
Ssbp2	C	T	13: 91,664,149	P105L	probably damaging	Het
Stt3a	C	T	9: 36,763,385	R34H	probably damaging	Het
Sufu	T	A	19: 46,450,947	I202N	possibly damaging	Het
Thsd7b	G	A	1: 129,613,256	R289Q	probably damaging	Het
Tph1	A	T	7: 46,660,439	S130T	probably damaging	Het
Ttn	A	G	2: 76,945,686	S1671P	probably damaging	Het
Usp4	A	G	9: 108,372,736	I441V	probably benign	Het
Vmn1r8	A	G	6: 57,036,428	N155D	probably benign	Het
Vmn2r115	A	C	17: 23,359,383	K610T	probably damaging	Het
Vmn2r62	G	A	7: 42,789,122	P97S	probably damaging	Het
Zbtb40	T	C	4: 137,007,839	D297G	probably benign	Het
Zfp174	C	A	16: 3,854,735	Q383K	probably benign	Het
Zfp318	T	A	17: 46,413,666	D2198E	probably benign	Het
Zfp628	C	T	7: 4,920,867	P696L	possibly damaging	Het
Zgrf1	T	A	3: 127,615,463	N1695K	probably damaging	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
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
R6280:Lpin2	UTSW	17	71232248	unclassified	probably benign
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
Z1176:Lpin2	UTSW	17	71225211	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGACGTTCTGCCCTTAGGAAC -3'
(R):5'- GAAGTCCTTACCTTGCTGCCTG -3'

Sequencing Primer
(F):5'- GGTGTGTACTCAAAGAGCATCC -3'
(R):5'- ACCTTGCTGCCTGGGCTC -3'

Posted On

2014-06-23