Mutagenetix > Incidental Mutations

Incidental Mutation 'R9063:Lmnb2'

689099

Institutional Source

Beutler Lab

Gene Symbol

Lmnb2

Ensembl Gene

ENSMUSG00000062075

Gene Name

lamin B2

Synonyms

lamin B3

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9063 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80901203-80918245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80906171 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 29 (V29M)

Ref Sequence

ENSEMBL: ENSMUSP00000100969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057623] [ENSMUST00000105332] [ENSMUST00000179022]

AlphaFold

P21619

Predicted Effect

probably benign
Transcript: ENSMUST00000057623

SMART Domains

Protein: ENSMUSP00000057291
Gene: ENSMUSG00000062075

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: V29M

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

SMART Domains

Protein: ENSMUSP00000100969
Gene: ENSMUSG00000062075
AA Change: V29M

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: ENSMUST00000179022

SMART Domains

Protein: ENSMUSP00000136524
Gene: ENSMUSG00000062075

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	G	7: 116,104,425	S178A	probably benign	Het
Add3	T	C	19: 53,233,871	L303P	probably damaging	Het
Agr2	T	A	12: 36,003,899	*176K	probably null	Het
Apobr	C	T	7: 126,586,748	T477I	probably benign	Het
Cdca7l	G	A	12: 117,874,801	V336M	probably damaging	Het
Cep63	T	G	9: 102,619,028	H18P	unknown	Het
Copa	A	G	1: 172,116,962	D838G	probably benign	Het
Cspg4	G	T	9: 56,888,403	V1141L	probably benign	Het
D930020B18Rik	A	G	10: 121,661,097	T146A	probably benign	Het
Dapk1	A	T	13: 60,718,450	I206L	probably benign	Het
Emsy	C	T	7: 98,646,477	D73N	probably damaging	Het
Esr2	A	T	12: 76,121,816	Y540N	probably benign	Het
Exoc7	C	A	11: 116,289,275	V668L	probably benign	Het
Fcgbp	C	T	7: 28,091,852	T846I	probably damaging	Het
Fhod3	A	G	18: 25,020,715	E418G	probably damaging	Het
Fryl	G	A	5: 73,081,003	R1467C	possibly damaging	Het
Gas2l3	A	G	10: 89,413,696	I520T	probably benign	Het
Gfod1	A	G	13: 43,200,804	C232R	probably benign	Het
Gpr61	T	C	3: 108,150,239	R369G	probably benign	Het
Hk1	T	C	10: 62,286,650	Y423C	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Jmy	T	C	13: 93,499,072	R79G	probably benign	Het
Kcnn4	T	A	7: 24,377,509	V161E	probably damaging	Het
Kif15	T	A	9: 123,004,641	I1040N	probably damaging	Het
Kif2b	A	G	11: 91,575,828	L543S	probably damaging	Het
Kpna2	A	G	11: 106,992,663	I81T	probably benign	Het
Krt12	A	G	11: 99,416,931	S444P	probably benign	Het
Lmod2	T	C	6: 24,603,365	V113A	probably benign	Het
Lrp1b	T	C	2: 41,341,826	T1211A		Het
Lrrc8d	T	C	5: 105,814,093	S790P	probably damaging	Het
Map3k4	A	G	17: 12,263,991	V613A	probably damaging	Het
Marveld2	T	C	13: 100,612,145	N142S	probably benign	Het
Mfsd7a	A	G	5: 108,442,237	L433P	probably damaging	Het
Mgll	G	A	6: 88,825,708	V282I	possibly damaging	Het
Mief2	G	A	11: 60,731,488	E295K	probably damaging	Het
Mmrn2	A	T	14: 34,398,610	H479L	probably benign	Het
Myh15	T	A	16: 49,092,755	N358K	probably benign	Het
Mzf1	T	G	7: 13,053,078	K101Q	probably damaging	Het
Ncbp3	T	A	11: 73,073,427	L401Q	probably damaging	Het
Nck2	T	C	1: 43,554,343	C237R	possibly damaging	Het
Nlrp9a	T	G	7: 26,573,866	N976K	possibly damaging	Het
Nol11	A	G	11: 107,173,414	V524A	probably benign	Het
Nol11	T	C	11: 107,179,031	Y331C	possibly damaging	Het
Nsmf	A	T	2: 25,062,610	H149L	probably benign	Het
Olfm3	T	C	3: 115,120,933	V231A	probably benign	Het
Olfr364-ps1	A	T	2: 37,146,634	M141L	probably benign	Het
Olfr544	T	C	7: 102,484,724	Y132C	probably damaging	Het
Olfr575	A	G	7: 102,955,239	S121P	probably benign	Het
Pcdhgb5	T	A	18: 37,731,686	F178Y	probably damaging	Het
Plk2	T	A	13: 110,396,386	S160R	possibly damaging	Het
Plk5	C	G	10: 80,357,996	R40G	probably damaging	Het
Ppp1cc	A	G	5: 122,168,216	N33D	probably benign	Het
Ptpn23	T	C	9: 110,389,625	E499G	possibly damaging	Het
Pwp1	A	G	10: 85,884,567	H356R	probably benign	Het
Rbsn	G	T	6: 92,194,019	T307K	probably benign	Het
Rnf19a	G	A	15: 36,265,469	Q161*	probably null	Het
Scin	T	C	12: 40,084,337	D236G	possibly damaging	Het
Setd1a	G	A	7: 127,786,386	R755H	possibly damaging	Het
Sik3	C	T	9: 46,212,437	T1178I	probably benign	Het
Tex26	C	T	5: 149,470,361	R272C	probably damaging	Het
Trim60	T	A	8: 65,000,813	K261N	possibly damaging	Het
Tspan9	A	G	6: 127,967,109	I76T	probably damaging	Het
Ttn	T	A	2: 76,758,489	Y21412F	probably damaging	Het
Ttn	A	T	2: 76,880,563	I8409N	unknown	Het
Unc80	T	C	1: 66,606,657		probably null	Het
Ush2a	A	T	1: 188,263,260	Q76L	probably benign	Het
Usp1	G	A	4: 98,931,152	V284I	probably benign	Het
Usp31	A	G	7: 121,707,243	V4A	probably benign	Het
Vmn2r88	G	A	14: 51,410,872		probably benign	Het
Zfp959	G	A	17: 55,897,221	R86K	probably benign	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
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
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'- AATAGACTCTAGCCCAGGGATC -3'
(R):5'- CCAATAGAGCTTCAGTGTAGAGC -3'

Sequencing Primer
(F):5'- ACTCTAGCCCAGGGATCTAGGG -3'
(R):5'- AGCTTCAGTGTAGAGCCCTGTG -3'

Posted On

2021-11-19