Mutagenetix > Incidental Mutations

Incidental Mutation 'R7776:Lmnb2'

598905

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 #

R7776 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80901203-80918245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80918157 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 21 (A21E)

Ref Sequence

ENSEMBL: ENSMUSP00000057291 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057623
AA Change: A21E

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000057291
Gene: ENSMUSG00000062075
AA Change: A21E

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: ENSMUST00000179022
AA Change: A2E

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000136524
Gene: ENSMUSG00000062075
AA Change: A2E

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: 100.0%
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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,232,991		probably null	Het
Abca3	T	A	17: 24,386,276	V716D	possibly damaging	Het
Adprhl1	C	T	8: 13,248,682	V83I	probably damaging	Het
Alkbh1	A	G	12: 87,431,445	V232A	probably damaging	Het
Arhgef10l	T	A	4: 140,575,331	I271F	probably damaging	Het
Aspm	T	A	1: 139,479,846	M2157K	possibly damaging	Het
Capn13	G	A	17: 73,322,054	S586L	probably benign	Het
Cd3g	A	T	9: 44,974,161		probably null	Het
Cfap54	A	T	10: 92,868,741	Y2826N	unknown	Het
Cmas	T	C	6: 142,764,557	V134A	probably damaging	Het
Cnp	A	G	11: 100,578,988	H250R	probably damaging	Het
Dact1	G	A	12: 71,317,914	A453T	probably benign	Het
Dcaf6	T	A	1: 165,352,054	R506*	probably null	Het
Dph1	A	G	11: 75,190,446	V5A	probably benign	Het
Entpd3	A	G	9: 120,558,502	Y255C	probably damaging	Het
Etl4	A	T	2: 20,807,146	T1715S	probably damaging	Het
Exd2	T	A	12: 80,492,560	H466Q	probably damaging	Het
Fbln2	A	G	6: 91,269,199	N1056S	probably damaging	Het
Fcrl5	A	T	3: 87,444,195	Q250L	possibly damaging	Het
Fignl2	A	G	15: 101,053,420	V327A	unknown	Het
Gm10226	T	A	17: 21,691,959	C34S	possibly damaging	Het
Gm15448	T	C	7: 3,823,247	N249S	unknown	Het
Hist1h2be	A	T	13: 23,585,955	M1K	probably null	Het
Kdm6b	A	G	11: 69,406,134	S436P	possibly damaging	Het
Mcf2l	A	T	8: 12,880,127	E49V	probably benign	Het
Muc2	A	G	7: 141,704,393	E76G		Het
Naa60	T	C	16: 3,900,709	I135T	probably benign	Het
Neb	T	C	2: 52,207,701	Y4924C	possibly damaging	Het
Nlrp10	T	A	7: 108,925,449	I275F	probably damaging	Het
Nr3c2	T	C	8: 76,909,545	V425A	possibly damaging	Het
Nucb2	T	A	7: 116,529,013	D286E	probably damaging	Het
Nynrin	G	A	14: 55,865,963	G755S	probably damaging	Het
Olfr1170	T	C	2: 88,224,085	T316A	probably damaging	Het
Padi2	T	A	4: 140,924,345	D135E	probably benign	Het
Pcdha6	T	A	18: 36,969,981	S742R	probably benign	Het
Pcdhgb5	T	A	18: 37,732,954	S601T	probably damaging	Het
Polr1b	C	A	2: 129,125,544	F952L	probably damaging	Het
Prr15l	T	C	11: 96,934,564	W7R	possibly damaging	Het
Ptpn23	G	A	9: 110,386,300	H1431Y	possibly damaging	Het
Rnf20	C	T	4: 49,644,592	Q286*	probably null	Het
Rptor	T	C	11: 119,892,627	I1149T	probably benign	Het
Sfrp2	A	G	3: 83,766,779	I80V	probably benign	Het
Slc38a2	T	C	15: 96,690,152	D497G	probably benign	Het
Slc43a1	T	A	2: 84,840,853	M44K	probably damaging	Het
Stil	T	A	4: 115,032,838	V841E	possibly damaging	Het
Stip1	T	A	19: 7,021,773	H479L	probably benign	Het
Supt6	A	G	11: 78,209,529	Y1486H	probably damaging	Het
Taf6	T	C	5: 138,182,020	D324G	probably damaging	Het
Tgif1	T	A	17: 70,851,457		probably benign	Het
Tmprss11f	T	C	5: 86,533,746	E216G	probably benign	Het
Tmprss7	C	A	16: 45,667,651	A472S	probably benign	Het
Trpm1	T	A	7: 64,248,191	F1191I	probably benign	Het
Tspan12	T	A	6: 21,836,443	N40I	probably damaging	Het
Ttll3	AAGTA	AAGTACAGTA	6: 113,399,159		probably null	Het
Unc13c	A	T	9: 73,694,950	I1338N	probably damaging	Het
Vegfc	T	A	8: 54,077,800	S8T	unknown	Het
Vmn1r59	T	A	7: 5,454,635	Q42L	probably damaging	Het
Vmn2r-ps117	A	T	17: 18,823,672	I337F	probably damaging	Het
Xylb	G	A	9: 119,380,700		probably null	Het
Zfp551	T	A	7: 12,418,642	I55F	probably damaging	Het
Zfp972	T	C	2: 177,921,739	N27S	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
Z1176:Lmnb2	UTSW	10	80903238	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTCATTTCACCTATCACCAGG -3'
(R):5'- ACTACATCTCCTGGCATGCC -3'

Sequencing Primer
(F):5'- TTTCACCTATCACCAGGATCAAG -3'
(R):5'- TCCTGGCATGCCTCGCAAG -3'

Posted On

2019-11-26