Mutagenetix > Incidental Mutation

Incidental Mutation 'R7686:Lbr'

593063

Institutional Source

Beutler Lab

Gene Symbol

Lbr

Ensembl Gene

ENSMUSG00000004880

Gene Name

lamin B receptor

Synonyms

MMRRC Submission

045751-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R7686 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181642880-181669966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181645086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 522 (F522S)

Ref Sequence

ENSEMBL: ENSMUSP00000005003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005003] [ENSMUST00000208001]

AlphaFold

Q3U9G9

Predicted Effect

probably damaging
Transcript: ENSMUST00000005003
AA Change: F522S

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

SMART Domains

Protein: ENSMUSP00000005003
Gene: ENSMUSG00000004880
AA Change: F522S

Domain	Start	End	E-Value	Type
TUDOR	4	62	6.7e-9	SMART
low complexity region	63	101	N/A	INTRINSIC
low complexity region	111	121	N/A	INTRINSIC
Pfam:ERG4_ERG24	194	626	4.6e-161	PFAM
Pfam:DUF1295	452	617	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192602

Predicted Effect

probably benign
Transcript: ENSMUST00000194415

Predicted Effect

probably benign
Transcript: ENSMUST00000195458

Predicted Effect

probably benign
Transcript: ENSMUST00000208001

Meta Mutation Damage Score

0.9638

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in abnormal skin and hair and impair growth. [provided by MGI curators]

Allele List at MGI

All alleles(23) : Gene trapped(17) Spontaneous(6)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	T	1: 66,887,557 (GRCm39)		probably null	Het
Adgrg5	A	T	8: 95,664,430 (GRCm39)	I347F		Het
Agmo	T	C	12: 37,469,973 (GRCm39)	V431A	probably benign	Het
Arl14epl	A	G	18: 47,065,523 (GRCm39)	D96G	probably damaging	Het
Asxl1	C	T	2: 153,233,534 (GRCm39)	S113F	probably damaging	Het
Axdnd1	A	T	1: 156,223,034 (GRCm39)	C81*	probably null	Het
Bloc1s3	C	T	7: 19,241,531 (GRCm39)		probably benign	Het
Bmper	C	G	9: 23,310,840 (GRCm39)	L425V	probably benign	Het
Bok	A	T	1: 93,622,822 (GRCm39)	T194S	probably benign	Het
Bpifa5	A	T	2: 154,007,432 (GRCm39)	I125L	probably benign	Het
Brcc3dc	T	C	10: 108,535,301 (GRCm39)	E218G	probably damaging	Het
Brd10	A	T	19: 29,694,870 (GRCm39)	I1541N	probably benign	Het
Brpf3	T	C	17: 29,025,908 (GRCm39)	I327T	probably damaging	Het
Camk1	T	A	6: 113,313,158 (GRCm39)	N297Y	probably damaging	Het
Catsper2	C	T	2: 121,227,937 (GRCm39)		probably null	Het
Ccdc171	A	T	4: 83,575,556 (GRCm39)	N480I	unknown	Het
Cd83	A	G	13: 43,938,848 (GRCm39)	M22V	probably benign	Het
Col1a2	A	G	6: 4,518,964 (GRCm39)	D243G	unknown	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Ctla4	A	T	1: 60,951,752 (GRCm39)	T94S	probably benign	Het
Cyp2b19	T	C	7: 26,461,768 (GRCm39)	F196S	probably damaging	Het
Dhx32	A	T	7: 133,361,430 (GRCm39)	M1K	probably null	Het
Epha3	T	A	16: 63,593,651 (GRCm39)	I146F	probably damaging	Het
Erbb2	T	A	11: 98,326,399 (GRCm39)	S1008T	probably benign	Het
Esp34	A	G	17: 38,870,534 (GRCm39)	R143G	possibly damaging	Het
Fam135b	T	C	15: 71,335,233 (GRCm39)	K654E	possibly damaging	Het
Fgr	T	C	4: 132,725,324 (GRCm39)	M343T	probably benign	Het
Fibcd1	T	G	2: 31,723,880 (GRCm39)	D253A	probably damaging	Het
Foxk1	C	T	5: 142,387,625 (GRCm39)	S116L	probably damaging	Het
Gimap8	G	A	6: 48,633,006 (GRCm39)	G275E	probably damaging	Het
Glp1r	T	C	17: 31,144,633 (GRCm39)	Y269H	probably damaging	Het
H2ac20	T	C	3: 96,127,886 (GRCm39)	E92G	probably damaging	Het
Lca5	T	C	9: 83,277,292 (GRCm39)	N684S	probably benign	Het
Leng8	C	A	7: 4,146,504 (GRCm39)	S372*	probably null	Het
Lrp2	A	G	2: 69,319,581 (GRCm39)	Y1981H	probably damaging	Het
Lrrc37a	T	G	11: 103,389,062 (GRCm39)	Q2121P	unknown	Het
Lrrn2	A	G	1: 132,866,332 (GRCm39)	T466A	probably benign	Het
Map3k19	A	T	1: 127,749,985 (GRCm39)	L1122*	probably null	Het
Mfsd6	T	C	1: 52,701,554 (GRCm39)	E632G	probably benign	Het
Mfsd6l	C	T	11: 68,448,052 (GRCm39)	A301V	probably benign	Het
Mro	A	T	18: 74,010,510 (GRCm39)	M197L	probably benign	Het
Ncam2	A	T	16: 81,418,342 (GRCm39)	E799V	probably damaging	Het
Nek9	A	T	12: 85,350,433 (GRCm39)	D880E	probably benign	Het
Ntng1	T	A	3: 109,842,330 (GRCm39)	I148L	possibly damaging	Het
Or1ad6	A	G	11: 50,860,582 (GRCm39)	T246A	possibly damaging	Het
Or5ac23	T	A	16: 59,149,379 (GRCm39)	R164S	probably damaging	Het
P2ry13	C	T	3: 59,117,439 (GRCm39)	G113D	probably damaging	Het
Pnpt1	A	T	11: 29,107,070 (GRCm39)	T687S	probably damaging	Het
Pou2af1	T	C	9: 51,149,486 (GRCm39)	Y193H	probably damaging	Het
Ppp1r14c	T	A	10: 3,413,396 (GRCm39)	I143N	probably damaging	Het
Ppp1r16a	A	T	15: 76,578,783 (GRCm39)	S496C	probably benign	Het
Prdm12	G	A	2: 31,530,229 (GRCm39)	R40Q	probably damaging	Het
Rabepk	C	T	2: 34,669,308 (GRCm39)	G362S	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf26rt	A	T	6: 76,474,013 (GRCm39)	L201H	probably damaging	Het
Robo2	C	A	16: 73,755,293 (GRCm39)	V743F	probably damaging	Het
Scart1	T	A	7: 139,802,116 (GRCm39)	C148*	probably null	Het
Scart2	A	G	7: 139,828,965 (GRCm39)	N208S	probably benign	Het
Smg1	A	T	7: 117,767,081 (GRCm39)	Y1804N	unknown	Het
Ssh2	A	G	11: 77,316,150 (GRCm39)	E257G	possibly damaging	Het
Stoml3	T	C	3: 53,410,589 (GRCm39)	I101T	probably damaging	Het
Stxbp5	T	C	10: 9,645,154 (GRCm39)	D950G	probably damaging	Het
Syt10	T	C	15: 89,698,360 (GRCm39)	D328G	probably damaging	Het
Taf3	T	C	2: 9,956,299 (GRCm39)	K623E	probably damaging	Het
Tas2r134	T	A	2: 51,518,255 (GRCm39)	S245T	possibly damaging	Het
Tfap2b	G	C	1: 19,284,511 (GRCm39)	D140H	probably damaging	Het
Tjp3	C	T	10: 81,113,885 (GRCm39)	V458I	probably benign	Het
Tnpo3	G	T	6: 29,562,899 (GRCm39)	S606*	probably null	Het
Tram1l1	T	C	3: 124,114,959 (GRCm39)	F40L	probably benign	Het
Ttc29	A	T	8: 79,119,759 (GRCm39)	T464S	probably benign	Het
Txndc9	A	T	1: 38,026,849 (GRCm39)	M192K	probably benign	Het
Urb2	C	A	8: 124,771,911 (GRCm39)	A1444E	probably benign	Het
Uty	G	A	Y: 1,158,075 (GRCm39)	T657I	possibly damaging	Het
Vmn1r1	A	T	1: 181,985,590 (GRCm39)	V25D	probably damaging	Het
Vmn2r65	A	T	7: 84,589,744 (GRCm39)	I724N	probably damaging	Het
Xkr6	C	T	14: 63,844,295 (GRCm39)	T106M	possibly damaging	Het
Zc3h18	G	A	8: 123,140,615 (GRCm39)	R850Q	unknown	Het
Zfp341	A	G	2: 154,466,781 (GRCm39)	E50G	probably damaging	Het
Zfp62	C	A	11: 49,107,985 (GRCm39)	A692E	probably damaging	Het

Other mutations in Lbr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01585:Lbr	APN	1	181,653,208 (GRCm39)	nonsense	probably null
IGL01680:Lbr	APN	1	181,663,759 (GRCm39)	missense	probably damaging	1.00
IGL02738:Lbr	APN	1	181,659,778 (GRCm39)	missense	probably benign	0.16
IGL03048:Lbr	APN	1	181,666,109 (GRCm39)	utr 5 prime	probably benign
IGL03227:Lbr	APN	1	181,663,620 (GRCm39)	splice site	probably null
IGL03337:Lbr	APN	1	181,659,788 (GRCm39)	missense	possibly damaging	0.92
Aconcagua	UTSW	1	181,656,467 (GRCm39)	missense	probably benign	0.02
kosciuszko	UTSW	1	181,653,186 (GRCm39)	critical splice donor site	probably null
Mont_blanc	UTSW	1	181,648,267 (GRCm39)	missense	probably damaging	1.00
seven	UTSW	1	181,659,778 (GRCm39)	missense	probably benign	0.16
Strzelecki	UTSW	1	181,644,571 (GRCm39)	missense	possibly damaging	0.85
thredbo	UTSW	1	181,645,086 (GRCm39)	missense	probably damaging	1.00
1mM(1):Lbr	UTSW	1	181,659,244 (GRCm39)	missense	possibly damaging	0.65
H8562:Lbr	UTSW	1	181,648,233 (GRCm39)	splice site	probably benign
IGL02991:Lbr	UTSW	1	181,649,117 (GRCm39)	missense	probably damaging	1.00
R0597:Lbr	UTSW	1	181,659,778 (GRCm39)	missense	probably benign	0.16
R1118:Lbr	UTSW	1	181,648,233 (GRCm39)	splice site	probably benign
R1727:Lbr	UTSW	1	181,647,481 (GRCm39)	missense	probably benign	0.01
R2566:Lbr	UTSW	1	181,663,692 (GRCm39)	missense	probably damaging	0.96
R3699:Lbr	UTSW	1	181,646,485 (GRCm39)	missense	probably damaging	1.00
R3854:Lbr	UTSW	1	181,659,280 (GRCm39)	missense	probably benign	0.05
R4290:Lbr	UTSW	1	181,648,267 (GRCm39)	missense	probably damaging	1.00
R4292:Lbr	UTSW	1	181,648,267 (GRCm39)	missense	probably damaging	1.00
R4293:Lbr	UTSW	1	181,648,267 (GRCm39)	missense	probably damaging	1.00
R4294:Lbr	UTSW	1	181,648,267 (GRCm39)	missense	probably damaging	1.00
R4295:Lbr	UTSW	1	181,648,267 (GRCm39)	missense	probably damaging	1.00
R4771:Lbr	UTSW	1	181,665,986 (GRCm39)	missense	probably damaging	1.00
R4890:Lbr	UTSW	1	181,645,133 (GRCm39)	missense	probably benign	0.10
R5011:Lbr	UTSW	1	181,647,453 (GRCm39)	nonsense	probably null
R5402:Lbr	UTSW	1	181,647,526 (GRCm39)	missense	probably benign	0.00
R5486:Lbr	UTSW	1	181,646,403 (GRCm39)	critical splice donor site	probably null
R5617:Lbr	UTSW	1	181,656,467 (GRCm39)	missense	probably benign	0.02
R5630:Lbr	UTSW	1	181,644,529 (GRCm39)	splice site	probably null
R6360:Lbr	UTSW	1	181,659,720 (GRCm39)	missense	probably benign	0.00
R6575:Lbr	UTSW	1	181,663,763 (GRCm39)	missense	probably damaging	1.00
R7069:Lbr	UTSW	1	181,656,354 (GRCm39)	missense	probably damaging	1.00
R7342:Lbr	UTSW	1	181,653,186 (GRCm39)	critical splice donor site	probably null
R7590:Lbr	UTSW	1	181,649,076 (GRCm39)	missense	probably damaging	1.00
R8477:Lbr	UTSW	1	181,644,539 (GRCm39)	missense	possibly damaging	0.60
R8742:Lbr	UTSW	1	181,644,571 (GRCm39)	missense	possibly damaging	0.85
R8838:Lbr	UTSW	1	181,648,294 (GRCm39)	missense	possibly damaging	0.74
R8998:Lbr	UTSW	1	181,646,512 (GRCm39)	missense	probably damaging	1.00
R8999:Lbr	UTSW	1	181,646,512 (GRCm39)	missense	probably damaging	1.00
R9040:Lbr	UTSW	1	181,644,910 (GRCm39)	missense	probably damaging	1.00
R9059:Lbr	UTSW	1	181,645,119 (GRCm39)	missense
R9111:Lbr	UTSW	1	181,645,068 (GRCm39)	missense	possibly damaging	0.94
R9195:Lbr	UTSW	1	181,663,837 (GRCm39)	missense	probably benign	0.00
R9709:Lbr	UTSW	1	181,666,034 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATGATGAGGTCACCCAAG -3'
(R):5'- CAGACACTGTTCTTTGTGGGC -3'

Sequencing Primer
(F):5'- CCATGATGAGGTCACCCAAGTAATTG -3'
(R):5'- CATGACTGGAAGTGTTTGCC -3'

Posted On

2019-11-12