Mutagenetix > Incidental Mutation

Incidental Mutation 'R5334:Lmnb2'

423420

Institutional Source

Beutler Lab

Gene Symbol

Lmnb2

Ensembl Gene

ENSMUSG00000062075

Gene Name

lamin B2

Synonyms

lamin B3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5334 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80901203-80918245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80903957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 376 (V376I)

Ref Sequence

ENSEMBL: ENSMUSP00000100969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020440] [ENSMUST00000057623] [ENSMUST00000105332] [ENSMUST00000105333] [ENSMUST00000179022] [ENSMUST00000218481] [ENSMUST00000219817] [ENSMUST00000219896]

AlphaFold

P21619

Predicted Effect

probably benign
Transcript: ENSMUST00000020440

SMART Domains

Protein: ENSMUSP00000020440
Gene: ENSMUSG00000020219

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:zf-Tim10_DDP	23	87	4.6e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057623
AA Change: V517I

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

SMART Domains

Protein: ENSMUSP00000057291
Gene: ENSMUSG00000062075
AA Change: V517I

Domain	Start	End	E-Value	Type
Filament	42	398	1.97e-47	SMART
low complexity region	402	422	N/A	INTRINSIC
internal_repeat_1	427	442	1.72e-5	PROSPERO
low complexity region	444	458	N/A	INTRINSIC
Pfam:LTD	462	575	9.3e-16	PFAM
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105332
AA Change: V376I

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000100969
Gene: ENSMUSG00000062075
AA Change: V376I

Domain	Start	End	E-Value	Type
Pfam:Filament	77	257	1.2e-49	PFAM
low complexity region	261	281	N/A	INTRINSIC
Pfam:LTD	317	435	6.7e-23	PFAM
low complexity region	438	455	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105333

SMART Domains

Protein: ENSMUSP00000100970
Gene: ENSMUSG00000059406

Domain	Start	End	E-Value	Type
Pfam:SEA	62	155	1.7e-10	PFAM
LDLa	189	227	1.15e-4	SMART
Tryp_SPc	238	467	2.43e-96	SMART
low complexity region	477	502	N/A	INTRINSIC
Tryp_SPc	539	767	7.28e-86	SMART
Tryp_SPc	867	1093	1.62e-92	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179022
AA Change: V498I

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

SMART Domains

Protein: ENSMUSP00000136524
Gene: ENSMUSG00000062075
AA Change: V498I

Domain	Start	End	E-Value	Type
Pfam:Filament	23	379	8.9e-96	PFAM
low complexity region	383	403	N/A	INTRINSIC
internal_repeat_1	408	423	1.1e-5	PROSPERO
Pfam:LTD	439	557	1.3e-23	PFAM
low complexity region	560	577	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218149

Predicted Effect

probably benign
Transcript: ENSMUST00000218481

Predicted Effect

probably benign
Transcript: ENSMUST00000219817

Predicted Effect

probably benign
Transcript: ENSMUST00000219896

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal death with abnormal brain development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc15	C	T	7: 101,898,603	P68L	probably damaging	Het
Ap4s1	C	T	12: 51,738,671	S142L	probably benign	Het
Apol11a	A	G	15: 77,516,753	T147A	probably benign	Het
Aqp9	T	C	9: 71,123,010		probably null	Het
Arhgap25	T	A	6: 87,463,261	N468I	possibly damaging	Het
Arhgef2	T	A	3: 88,646,329	S924R	probably damaging	Het
Atad3a	A	T	4: 155,755,689	L144Q	probably damaging	Het
Ccbe1	T	C	18: 66,083,245	I136V	probably damaging	Het
Col24a1	C	A	3: 145,461,525	P1119Q	possibly damaging	Het
Dgkd	T	C	1: 87,938,267		probably null	Het
Dnah7a	A	G	1: 53,503,646	I2455T	probably benign	Het
Dock2	T	C	11: 34,228,643	T1795A	probably benign	Het
Dpp6	A	T	5: 27,709,540	E541V	probably benign	Het
Edem1	T	C	6: 108,848,832		probably null	Het
Fbxo41	A	G	6: 85,478,483	V573A	probably damaging	Het
Fech	A	C	18: 64,464,120	V256G	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gal3st4	T	G	5: 138,265,721	K339Q	probably benign	Het
Gm11487	T	A	4: 73,403,517	M94L	probably benign	Het
Gm884	T	C	11: 103,613,873	Q2423R	probably benign	Het
Gpr158	T	A	2: 21,827,505	S1139T	probably benign	Het
Gpr180	A	T	14: 118,160,056	S321C	probably damaging	Het
Grik1	CGG	CGGG	16: 87,923,194		probably null	Het
Grin2c	T	G	11: 115,256,055	N438T	possibly damaging	Het
Hcn2	T	C	10: 79,726,291	S374P	probably damaging	Het
Hmcn1	T	A	1: 150,755,372	I892F	probably damaging	Het
Ifi207	C	T	1: 173,727,531	V869I	probably benign	Het
Itgad	T	C	7: 128,189,286	Y390H	probably damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnj15	A	G	16: 95,296,649	K377E	probably damaging	Het
Kcnq3	A	G	15: 66,025,224	S276P	probably damaging	Het
Klhl26	T	C	8: 70,452,318	D280G	probably damaging	Het
Mepce	T	A	5: 137,786,627	R29S	probably benign	Het
Mlh3	A	G	12: 85,245,761		probably null	Het
Mlip	T	A	9: 77,243,676	T33S	probably damaging	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Ncapg2	T	C	12: 116,426,637	I402T	probably damaging	Het
Olfr1026	T	C	2: 85,923,714	Y149H	probably damaging	Het
Olfr171	C	G	16: 19,624,491	G203A	probably benign	Het
Pcsk5	T	C	19: 17,461,851	D1301G	probably benign	Het
Pilrb1	T	C	5: 137,854,903	M213V	probably benign	Het
Plxdc1	T	C	11: 97,956,105	T163A	possibly damaging	Het
Pnpla2	T	C	7: 141,459,493	L373P	probably damaging	Het
Prickle2	A	G	6: 92,425,684	Y52H	probably damaging	Het
Rnf220	A	G	4: 117,272,351	C294R	probably damaging	Het
Slc12a1	A	G	2: 125,217,889	D903G	probably damaging	Het
Slc17a2	T	C	13: 23,819,051	F228S	probably damaging	Het
Sptbn1	T	C	11: 30,137,364	E1025G	possibly damaging	Het
Sult1c1	T	G	17: 53,964,730	D143A	probably damaging	Het
Taar1	T	G	10: 23,920,545	I47R	probably damaging	Het
Tctn3	G	T	19: 40,602,822	Q514K	probably benign	Het
Tg	T	C	15: 66,678,055	F222S	probably damaging	Het
Tmem236	C	A	2: 14,219,060	T220K	possibly damaging	Het
Trim50	C	T	5: 135,367,476	T426M	probably damaging	Het
Vmn1r237	T	C	17: 21,314,680	F222L	probably benign	Het
Wrap73	G	A	4: 154,145,274	R34Q	probably damaging	Het
Zfp85	T	C	13: 67,751,684	Y52C	probably damaging	Het

Other mutations in Lmnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Lmnb2	APN	10	80904037	missense	possibly damaging	0.92
IGL00908:Lmnb2	APN	10	80909987	missense	probably damaging	0.99
IGL01365:Lmnb2	APN	10	80904984	missense	probably benign	0.07
IGL01598:Lmnb2	APN	10	80907165	missense	probably benign	0.00
R0761:Lmnb2	UTSW	10	80906254	start codon destroyed	probably null	0.03
R1143:Lmnb2	UTSW	10	80904315	unclassified	probably benign
R1324:Lmnb2	UTSW	10	80904171	missense	possibly damaging	0.60
R1763:Lmnb2	UTSW	10	80907191	missense	probably damaging	1.00
R2229:Lmnb2	UTSW	10	80904392	unclassified	probably benign
R5001:Lmnb2	UTSW	10	80918112	missense	probably damaging	0.98
R5053:Lmnb2	UTSW	10	80904655	missense	probably damaging	1.00
R5713:Lmnb2	UTSW	10	80906087	missense	probably damaging	0.97
R5975:Lmnb2	UTSW	10	80905128	nonsense	probably null
R6314:Lmnb2	UTSW	10	80909970	missense	probably damaging	1.00
R6835:Lmnb2	UTSW	10	80909960	missense	probably damaging	1.00
R7663:Lmnb2	UTSW	10	80904739	missense	probably damaging	1.00
R7776:Lmnb2	UTSW	10	80918157	missense	possibly damaging	0.52
R8230:Lmnb2	UTSW	10	80905148	missense	probably damaging	0.97
R8728:Lmnb2	UTSW	10	80905079	critical splice donor site	probably null
R9032:Lmnb2	UTSW	10	80904257	missense	probably benign	0.03
R9063:Lmnb2	UTSW	10	80906171	missense	probably benign	0.00
R9085:Lmnb2	UTSW	10	80904257	missense	probably benign	0.03
Z1176:Lmnb2	UTSW	10	80903238	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACACTGACAACTGTGAACTG -3'
(R):5'- GTTCGTGCGCCTTAAGAACTC -3'

Sequencing Primer
(F):5'- CTCAGACATGGGGAATCACTTG -3'
(R):5'- GCCTTAAGAACTCTTCAGACAAGGTG -3'

Posted On

2016-08-04