Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Lmnb2'

471702

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 #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80737197-80754079 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 80740962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 248 (Q248*)

Ref Sequence

ENSEMBL: ENSMUSP00000136524 (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 null
Transcript: ENSMUST00000057623
AA Change: Q267*

SMART Domains

Protein: ENSMUSP00000057291
Gene: ENSMUSG00000062075
AA Change: Q267*

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 null
Transcript: ENSMUST00000105332
AA Change: Q126*

SMART Domains

Protein: ENSMUSP00000100969
Gene: ENSMUSG00000062075
AA Change: Q126*

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

noncoding transcript
Transcript: ENSMUST00000159094

Predicted Effect

probably null
Transcript: ENSMUST00000179022
AA Change: Q248*

SMART Domains

Protein: ENSMUSP00000136524
Gene: ENSMUSG00000062075
AA Change: Q248*

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: ENSMUST00000219896

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	T	C	7: 136,989,021 (GRCm39)		probably benign	Het
Abhd14a	A	T	9: 106,321,150 (GRCm39)		probably null	Het
Actn2	T	C	13: 12,355,378 (GRCm39)	N2D	probably benign	Het
Adcy9	T	C	16: 4,129,431 (GRCm39)	E722G	probably damaging	Het
Alox12	C	A	11: 70,133,609 (GRCm39)	V572L	possibly damaging	Het
Ankrd11	T	C	8: 123,616,488 (GRCm39)	I2434V	possibly damaging	Het
Anks1	T	A	17: 28,210,421 (GRCm39)		probably null	Het
Bltp1	C	T	3: 37,023,370 (GRCm39)	T2233I	possibly damaging	Het
Bpifa3	T	A	2: 153,978,241 (GRCm39)	S148T	probably damaging	Het
Bptf	C	T	11: 106,926,690 (GRCm39)		probably benign	Het
Cabin1	A	T	10: 75,493,673 (GRCm39)	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,656,301 (GRCm39)	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,024,761 (GRCm39)	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,119,826 (GRCm39)	G280E	probably benign	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Celsr1	G	T	15: 85,803,239 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,801,523 (GRCm39)	I150N	possibly damaging	Het
Cep135	C	A	5: 76,788,737 (GRCm39)	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,074,364 (GRCm39)	H224N	probably damaging	Het
Cul5	T	C	9: 53,534,093 (GRCm39)	R680G	probably damaging	Het
Dhx58	C	A	11: 100,593,035 (GRCm39)	R224L	probably damaging	Het
Dlx1	C	A	2: 71,361,353 (GRCm39)	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,428 (GRCm39)	D279A	probably damaging	Het
Dnai4	G	A	4: 102,906,786 (GRCm39)	P676S	probably benign	Het
Efcab3	A	G	11: 104,578,375 (GRCm39)		probably benign	Het
Enpp3	A	G	10: 24,650,740 (GRCm39)	W799R	probably benign	Het
Ercc5	A	G	1: 44,212,566 (GRCm39)	T675A	probably benign	Het
Farsa	T	A	8: 85,591,061 (GRCm39)		probably null	Het
Fbxw15	A	T	9: 109,384,320 (GRCm39)	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,349,410 (GRCm39)	V62I	probably benign	Het
Gart	A	G	16: 91,421,224 (GRCm39)	S815P	probably damaging	Het
Glrx5	A	G	12: 105,006,582 (GRCm39)	N111S	possibly damaging	Het
Gm10845	A	G	14: 80,100,614 (GRCm39)		noncoding transcript	Het
Gm9925	T	A	18: 74,198,587 (GRCm39)		probably benign	Het
Gsdme	T	C	6: 50,204,339 (GRCm39)	N206S	probably benign	Het
Helz2	T	C	2: 180,872,843 (GRCm39)	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,453,784 (GRCm39)	S93P	possibly damaging	Het
Ints2	A	T	11: 86,117,574 (GRCm39)	I716N	possibly damaging	Het
Map3k7cl	A	G	16: 87,367,209 (GRCm39)	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,768,466 (GRCm39)	I255N	probably benign	Het
Myh6	A	G	14: 55,187,965 (GRCm39)	I1163T	probably benign	Het
Nphs1	A	T	7: 30,165,540 (GRCm39)	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,142,581 (GRCm39)	L124Q	probably damaging	Het
Obscn	C	T	11: 59,013,445 (GRCm39)		probably null	Het
P4ha2	G	A	11: 54,017,238 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,132,164 (GRCm39)	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,389,384 (GRCm39)	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,493,983 (GRCm39)	V106A	probably benign	Het
Plekhm1	A	T	11: 103,267,517 (GRCm39)	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,053,809 (GRCm39)		probably benign	Het
Prb1c	A	G	6: 132,339,036 (GRCm39)	S61P	unknown	Het
Prmt9	T	C	8: 78,287,647 (GRCm39)		probably benign	Het
Rab26	T	C	17: 24,749,373 (GRCm39)	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,336,862 (GRCm39)	S942P	probably damaging	Het
Scgb2b18	T	C	7: 32,872,650 (GRCm39)	T52A	probably damaging	Het
Syt3	C	T	7: 44,042,187 (GRCm39)	Q349*	probably null	Het
Tas2r107	T	C	6: 131,636,743 (GRCm39)	N102S	probably benign	Het
Tas2r126	T	A	6: 42,411,934 (GRCm39)	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,619,712 (GRCm39)	I105N	probably benign	Het
Tet1	A	C	10: 62,715,552 (GRCm39)	M81R	probably benign	Het
Togaram2	T	C	17: 72,036,200 (GRCm39)	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,625,197 (GRCm39)		noncoding transcript	Het
Ttn	G	A	2: 76,591,579 (GRCm39)	T12703I	probably damaging	Het
Unc79	A	G	12: 103,091,885 (GRCm39)	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,633,419 (GRCm39)	T372I	possibly damaging	Het
Wdr24	T	C	17: 26,046,102 (GRCm39)	S476P	probably benign	Het
Zbtb1	T	C	12: 76,433,049 (GRCm39)	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,293,496 (GRCm39)	I29L	probably benign	Het
Zfp341	T	A	2: 154,472,361 (GRCm39)	C315S	probably damaging	Het
Zfp623	C	A	15: 75,820,012 (GRCm39)	R323S	probably benign	Het
Zfp831	T	A	2: 174,485,885 (GRCm39)	Y187N	possibly damaging	Het

Other mutations in Lmnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Lmnb2	APN	10	80,739,871 (GRCm39)	missense	possibly damaging	0.92
IGL00908:Lmnb2	APN	10	80,745,821 (GRCm39)	missense	probably damaging	0.99
IGL01365:Lmnb2	APN	10	80,740,818 (GRCm39)	missense	probably benign	0.07
IGL01598:Lmnb2	APN	10	80,742,999 (GRCm39)	missense	probably benign	0.00
R0761:Lmnb2	UTSW	10	80,742,088 (GRCm39)	start codon destroyed	probably null	0.03
R1143:Lmnb2	UTSW	10	80,740,149 (GRCm39)	unclassified	probably benign
R1324:Lmnb2	UTSW	10	80,740,005 (GRCm39)	missense	possibly damaging	0.60
R1763:Lmnb2	UTSW	10	80,743,025 (GRCm39)	missense	probably damaging	1.00
R2229:Lmnb2	UTSW	10	80,740,226 (GRCm39)	unclassified	probably benign
R5001:Lmnb2	UTSW	10	80,753,946 (GRCm39)	missense	probably damaging	0.98
R5053:Lmnb2	UTSW	10	80,740,489 (GRCm39)	missense	probably damaging	1.00
R5334:Lmnb2	UTSW	10	80,739,791 (GRCm39)	missense	probably benign	0.08
R5713:Lmnb2	UTSW	10	80,741,921 (GRCm39)	missense	probably damaging	0.97
R6314:Lmnb2	UTSW	10	80,745,804 (GRCm39)	missense	probably damaging	1.00
R6835:Lmnb2	UTSW	10	80,745,794 (GRCm39)	missense	probably damaging	1.00
R7663:Lmnb2	UTSW	10	80,740,573 (GRCm39)	missense	probably damaging	1.00
R7776:Lmnb2	UTSW	10	80,753,991 (GRCm39)	missense	possibly damaging	0.52
R8230:Lmnb2	UTSW	10	80,740,982 (GRCm39)	missense	probably damaging	0.97
R8728:Lmnb2	UTSW	10	80,740,913 (GRCm39)	critical splice donor site	probably null
R9032:Lmnb2	UTSW	10	80,740,091 (GRCm39)	missense	probably benign	0.03
R9063:Lmnb2	UTSW	10	80,742,005 (GRCm39)	missense	probably benign	0.00
R9085:Lmnb2	UTSW	10	80,740,091 (GRCm39)	missense	probably benign	0.03
Z1176:Lmnb2	UTSW	10	80,739,072 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGCCTAAAAGCTGGTAGC -3'
(R):5'- GCACCTAGAGATAAAACCTGGC -3'

Sequencing Primer
(F):5'- ATGCGGGCCTCCTTGAG -3'
(R):5'- TGGCACAGCTGGGTCAC -3'

Posted On

2017-03-31