Mutagenetix > Incidental Mutation

Incidental Mutation 'R7776:Lmnb2'

598905

Institutional Source

Beutler Lab

Gene Symbol

Lmnb2

Ensembl Gene

ENSMUSG00000062075

Gene Name

lamin B2

Synonyms

lamin B3

MMRRC Submission

045832-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7776 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80737197-80754079 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80753991 bp (GRCm39)

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]

AlphaFold

P21619

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: 119,832,214 (GRCm39)		probably null	Het
Abca3	T	A	17: 24,605,250 (GRCm39)	V716D	possibly damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Alkbh1	A	G	12: 87,478,215 (GRCm39)	V232A	probably damaging	Het
Arhgef10l	T	A	4: 140,302,642 (GRCm39)	I271F	probably damaging	Het
Aspm	T	A	1: 139,407,584 (GRCm39)	M2157K	possibly damaging	Het
Capn13	G	A	17: 73,629,049 (GRCm39)	S586L	probably benign	Het
Cd3g	A	T	9: 44,885,459 (GRCm39)		probably null	Het
Cfap54	A	T	10: 92,704,603 (GRCm39)	Y2826N	unknown	Het
Cmas	T	C	6: 142,710,283 (GRCm39)	V134A	probably damaging	Het
Cnp	A	G	11: 100,469,814 (GRCm39)	H250R	probably damaging	Het
Dact1	G	A	12: 71,364,688 (GRCm39)	A453T	probably benign	Het
Dcaf6	T	A	1: 165,179,623 (GRCm39)	R506*	probably null	Het
Dph1	A	G	11: 75,081,272 (GRCm39)	V5A	probably benign	Het
Entpd3	A	G	9: 120,387,568 (GRCm39)	Y255C	probably damaging	Het
Etl4	A	T	2: 20,811,957 (GRCm39)	T1715S	probably damaging	Het
Exd2	T	A	12: 80,539,334 (GRCm39)	H466Q	probably damaging	Het
Fbln2	A	G	6: 91,246,181 (GRCm39)	N1056S	probably damaging	Het
Fcrl5	A	T	3: 87,351,502 (GRCm39)	Q250L	possibly damaging	Het
Fignl2	A	G	15: 100,951,301 (GRCm39)	V327A	unknown	Het
Gm10226	T	A	17: 21,910,866 (GRCm39)	C34S	possibly damaging	Het
H2bc6	A	T	13: 23,769,938 (GRCm39)	M1K	probably null	Het
Kdm6b	A	G	11: 69,296,960 (GRCm39)	S436P	possibly damaging	Het
Mcf2l	A	T	8: 12,930,127 (GRCm39)	E49V	probably benign	Het
Muc2	A	G	7: 141,290,942 (GRCm39)	E76G		Het
Naa60	T	C	16: 3,718,573 (GRCm39)	I135T	probably benign	Het
Neb	T	C	2: 52,097,713 (GRCm39)	Y4924C	possibly damaging	Het
Nlrp10	T	A	7: 108,524,656 (GRCm39)	I275F	probably damaging	Het
Nr3c2	T	C	8: 77,636,174 (GRCm39)	V425A	possibly damaging	Het
Nucb2	T	A	7: 116,128,248 (GRCm39)	D286E	probably damaging	Het
Nynrin	G	A	14: 56,103,420 (GRCm39)	G755S	probably damaging	Het
Or5d41	T	C	2: 88,054,429 (GRCm39)	T316A	probably damaging	Het
Padi2	T	A	4: 140,651,656 (GRCm39)	D135E	probably benign	Het
Pcdha6	T	A	18: 37,103,034 (GRCm39)	S742R	probably benign	Het
Pcdhgb5	T	A	18: 37,866,007 (GRCm39)	S601T	probably damaging	Het
Pira13	T	C	7: 3,826,246 (GRCm39)	N249S	unknown	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Prr15l	T	C	11: 96,825,390 (GRCm39)	W7R	possibly damaging	Het
Ptpn23	G	A	9: 110,215,368 (GRCm39)	H1431Y	possibly damaging	Het
Rnf20	C	T	4: 49,644,592 (GRCm39)	Q286*	probably null	Het
Rptor	T	C	11: 119,783,453 (GRCm39)	I1149T	probably benign	Het
Sfrp2	A	G	3: 83,674,086 (GRCm39)	I80V	probably benign	Het
Slc38a2	T	C	15: 96,588,033 (GRCm39)	D497G	probably benign	Het
Slc43a1	T	A	2: 84,671,197 (GRCm39)	M44K	probably damaging	Het
Stil	T	A	4: 114,890,035 (GRCm39)	V841E	possibly damaging	Het
Stip1	T	A	19: 6,999,141 (GRCm39)	H479L	probably benign	Het
Supt6	A	G	11: 78,100,355 (GRCm39)	Y1486H	probably damaging	Het
Taf6	T	C	5: 138,180,282 (GRCm39)	D324G	probably damaging	Het
Tgif1	T	A	17: 71,158,452 (GRCm39)		probably benign	Het
Tmprss11f	T	C	5: 86,681,605 (GRCm39)	E216G	probably benign	Het
Tmprss7	C	A	16: 45,488,014 (GRCm39)	A472S	probably benign	Het
Trpm1	T	A	7: 63,897,939 (GRCm39)	F1191I	probably benign	Het
Tspan12	T	A	6: 21,836,442 (GRCm39)	N40I	probably damaging	Het
Ttll3	AAGTA	AAGTACAGTA	6: 113,376,120 (GRCm39)		probably null	Het
Unc13c	A	T	9: 73,602,232 (GRCm39)	I1338N	probably damaging	Het
Vegfc	T	A	8: 54,530,835 (GRCm39)	S8T	unknown	Het
Vmn1r59	T	A	7: 5,457,634 (GRCm39)	Q42L	probably damaging	Het
Vmn2r-ps117	A	T	17: 19,043,934 (GRCm39)	I337F	probably damaging	Het
Xylb	G	A	9: 119,209,766 (GRCm39)		probably null	Het
Zfp551	T	A	7: 12,152,569 (GRCm39)	I55F	probably damaging	Het
Zfp972	T	C	2: 177,563,532 (GRCm39)	N27S	probably benign	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
R5975:Lmnb2	UTSW	10	80,740,962 (GRCm39)	nonsense	probably null
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
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'- GCTCATTTCACCTATCACCAGG -3'
(R):5'- ACTACATCTCCTGGCATGCC -3'

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

Posted On

2019-11-26