Mutagenetix > Incidental Mutations

Incidental Mutation 'R7663:Lmnb2'

591719

Institutional Source

Beutler Lab

Gene Symbol

Lmnb2

Ensembl Gene

ENSMUSG00000062075

Gene Name

lamin B2

Synonyms

lamin B3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7663 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80901203-80918245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80904739 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 336 (E336V)

Ref Sequence

ENSEMBL: ENSMUSP00000057291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020440] [ENSMUST00000057623] [ENSMUST00000105332] [ENSMUST00000179022] [ENSMUST00000218481] [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 damaging
Transcript: ENSMUST00000057623
AA Change: E336V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000057291
Gene: ENSMUSG00000062075
AA Change: E336V

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 damaging
Transcript: ENSMUST00000105332
AA Change: E195V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100969
Gene: ENSMUSG00000062075
AA Change: E195V

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 damaging
Transcript: ENSMUST00000179022
AA Change: E317V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136524
Gene: ENSMUSG00000062075
AA Change: E317V

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

probably benign
Transcript: ENSMUST00000218481

Predicted Effect

probably benign
Transcript: ENSMUST00000219896

Meta Mutation Damage Score

0.4731

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (68/69)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,066,126	T359A	probably damaging	Het
Abcd4	A	C	12: 84,606,129	V433G	probably damaging	Het
Acot5	C	A	12: 84,069,581	R39S	probably damaging	Het
Actl9	T	C	17: 33,433,469	S168P	probably damaging	Het
Adam15	A	G	3: 89,345,806	L237P	probably damaging	Het
Ahctf1	T	C	1: 179,790,314	Q289R	possibly damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Asah1	C	T	8: 41,341,627	R385Q	probably damaging	Het
AW549877	T	C	15: 3,988,683	Y170C	probably damaging	Het
Bicc1	T	C	10: 70,946,590	T607A	probably benign	Het
Ccdc88a	T	C	11: 29,498,614		probably null	Het
Cdhr4	A	T	9: 107,998,772	R750*	probably null	Het
Cep290	T	A	10: 100,554,536		probably null	Het
Clca3a1	T	A	3: 144,737,036	D749V	probably benign	Het
Clcn1	C	T	6: 42,310,063	P685S	possibly damaging	Het
Clk1	A	G	1: 58,421,160	S104P	probably damaging	Het
Commd10	T	C	18: 47,086,256	V172A	probably benign	Het
Cyp2c69	A	T	19: 39,877,509	C213*	probably null	Het
Dnah14	A	T	1: 181,752,155		probably null	Het
Dock2	C	T	11: 34,721,027	G170R	probably damaging	Het
Fam186a	T	G	15: 99,945,069	H1098P	probably benign	Het
Flt1	T	C	5: 147,655,120	T511A	probably benign	Het
Fmo1	A	C	1: 162,836,297	I221S	possibly damaging	Het
Fthl17b	C	T	X: 8,962,804	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,962,808	V8M	possibly damaging	Het
Ginm1	A	T	10: 7,775,362	S93R	possibly damaging	Het
Gm10251	A	C	14: 6,675,701		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gys2	C	T	6: 142,459,485	R192H	probably damaging	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Hectd4	C	A	5: 121,324,031	A987E	probably benign	Het
Herc2	G	A	7: 56,136,685	V1593I	probably benign	Het
Ighv14-3	T	C	12: 114,059,934	T88A	probably benign	Het
Jag2	T	C	12: 112,913,666	D695G	probably damaging	Het
Kazn	A	T	4: 142,104,898	D663E		Het
Krt79	T	C	15: 101,931,843	D306G	probably damaging	Het
Lama1	T	A	17: 67,780,880	C1498S		Het
Ldb1	T	C	19: 46,035,524	Y141C	probably damaging	Het
Lrp1b	T	A	2: 42,653,035		probably benign	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Mycbp2	T	A	14: 103,191,609	Y2377F	probably damaging	Het
Neb	T	A	2: 52,230,047	Y721F		Het
Ntf3	A	G	6: 126,101,815	S243P	probably damaging	Het
Olfr1195	G	C	2: 88,683,352	P127A	probably damaging	Het
Olfr1480	G	T	19: 13,530,445	M301I	probably damaging	Het
Olfr593	T	C	7: 103,212,445	M195T	possibly damaging	Het
Pdk1	G	A	2: 71,875,398		probably null	Het
Pdzd2	A	G	15: 12,373,203	V2282A	probably damaging	Het
Piwil1	T	C	5: 128,747,433	F517L	probably benign	Het
Plch2	T	A	4: 154,991,162	T738S	probably damaging	Het
Plekhm3	G	A	1: 64,883,208	R603W	probably damaging	Het
Pltp	A	T	2: 164,857,006		probably null	Het
Prdm4	A	G	10: 85,899,281	S666P	probably damaging	Het
Psmb3	G	T	11: 97,712,492	R177L	probably damaging	Het
Ralgapa2	A	G	2: 146,418,415	V764A	probably benign	Het
Rel	T	C	11: 23,742,713	D440G	probably benign	Het
Rims2	T	A	15: 39,507,026	V952E	probably damaging	Het
Samd4b	G	T	7: 28,423,500	C44*	probably null	Het
Slamf8	C	A	1: 172,588,038	V78F	possibly damaging	Het
Slc35a1	A	T	4: 34,675,493	N111K	possibly damaging	Het
Slc7a5	A	T	8: 121,887,535	Y264*	probably null	Het
Srsf2	T	C	11: 116,852,294	S134G	unknown	Het
Stag1	T	A	9: 100,738,138	M98K	probably damaging	Het
Trib1	T	C	15: 59,651,713	S199P	probably damaging	Het
Txnip	T	C	3: 96,559,837	S276P	possibly damaging	Het
Vmn1r194	C	T	13: 22,244,741	T176I	not run	Het
Vmn1r222	A	G	13: 23,232,431	L204P	possibly damaging	Het
Vmn2r63	T	A	7: 42,927,042	H449L	probably benign	Het
Vmn2r83	T	A	10: 79,479,122	N401K	probably damaging	Het
Vmn2r87	T	A	10: 130,472,185	H728L	probably damaging	Het
Zfp69	G	A	4: 120,935,126	A151V	probably benign	Het
Zfp738	A	G	13: 67,683,401		probably null	Het
Zfp974	T	C	7: 27,911,685	E205G	possibly 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
R5334:Lmnb2	UTSW	10	80903957	missense	probably benign	0.08
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
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'- TTTTGAAGCTCTGCCCAGC -3'
(R):5'- GCTTTTAGGCCTCCAAAAGCAG -3'

Sequencing Primer
(F):5'- TCTGCCCAATCGCCTGG -3'
(R):5'- TTAGGCCTCCAAAAGCAGGTGAC -3'

Posted On

2019-11-12