Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01936:Ldb2'

180681

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ldb2

Ensembl Gene

ENSMUSG00000039706

Gene Name

LIM domain binding 2

Synonyms

CLIM1, Ldb3, CLIM-1a, CLIM-1b, CLP-36

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

44629474-44957022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44637586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 241 (R241W)

Ref Sequence

ENSEMBL: ENSMUSP00000143289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070748] [ENSMUST00000199256] [ENSMUST00000199261] [ENSMUST00000199534]

AlphaFold

O55203

Predicted Effect

probably damaging
Transcript: ENSMUST00000070748
AA Change: R241W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067737
Gene: ENSMUSG00000039706
AA Change: R241W

Domain	Start	End	E-Value	Type
Pfam:LIM_bind	30	232	9.9e-56	PFAM
low complexity region	249	281	N/A	INTRINSIC
PDB:2JTN\|A	293	337	2e-21	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000199256
AA Change: R241W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143775
Gene: ENSMUSG00000039706
AA Change: R241W

Domain	Start	End	E-Value	Type
Pfam:LIM_bind	30	232	6.9e-56	PFAM
low complexity region	249	281	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000199261
AA Change: R241W

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

SMART Domains

Protein: ENSMUSP00000143289
Gene: ENSMUSG00000039706
AA Change: R241W

Domain	Start	End	E-Value	Type
Pfam:LIM_bind	29	233	2.3e-68	PFAM
low complexity region	249	281	N/A	INTRINSIC
PDB:2YPA\|D	296	335	2e-20	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199471

Predicted Effect

probably damaging
Transcript: ENSMUST00000199534
AA Change: R241W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142442
Gene: ENSMUSG00000039706
AA Change: R241W

Domain	Start	End	E-Value	Type
Pfam:LIM_bind	29	233	2e-71	PFAM
low complexity region	249	281	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

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 LIM-domain binding family. Members of this family are characterized by a conserved nuclear localization sequence, an amino-terminal homodimerization domain and a carboxy-terminal LIM interaction domain. These proteins function as adapter molecules to allow assembly of transcriptional regulatory complexes. Genetic association studies suggest functions for this gene in rhegmatogenous retinal detachment and coronary artery disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous mutation of this gene results in no obvious phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 90,009,282 (GRCm39)	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,244,579 (GRCm39)	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,423,287 (GRCm39)	L926F	probably damaging	Het
Asgr2	A	T	11: 69,988,877 (GRCm39)		probably null	Het
C3ar1	T	A	6: 122,828,194 (GRCm39)	T8S	probably benign	Het
Caskin2	T	C	11: 115,695,543 (GRCm39)	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,904,856 (GRCm39)	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,212,569 (GRCm39)		probably null	Het
Cfap45	T	G	1: 172,361,616 (GRCm39)	M231R	probably damaging	Het
Clcn7	A	C	17: 25,374,350 (GRCm39)	N464H	probably benign	Het
Col20a1	T	A	2: 180,651,161 (GRCm39)		probably benign	Het
Col7a1	T	A	9: 108,797,067 (GRCm39)		probably benign	Het
Cops7a	T	C	6: 124,939,379 (GRCm39)	D90G	probably benign	Het
Ctcf	T	C	8: 106,396,864 (GRCm39)	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dcaf1	T	A	9: 106,736,800 (GRCm39)	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,800,760 (GRCm39)	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,768,277 (GRCm39)	E1009*	probably null	Het
Epg5	C	A	18: 78,028,316 (GRCm39)	R1286S	probably damaging	Het
Etv1	T	C	12: 38,885,060 (GRCm39)		probably benign	Het
Exosc7	T	C	9: 122,964,956 (GRCm39)		probably benign	Het
Fam227a	T	C	15: 79,496,747 (GRCm39)	D610G	possibly damaging	Het
Fat4	T	A	3: 39,033,923 (GRCm39)	M2525K	probably benign	Het
Gimap5	G	T	6: 48,729,999 (GRCm39)	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596 (GRCm39)	S79T	probably damaging	Het
Gpnmb	C	T	6: 49,024,384 (GRCm39)	T233I	probably null	Het
Hdac1-ps	T	C	17: 78,799,558 (GRCm39)	V183A	probably damaging	Het
Hyls1	T	C	9: 35,473,363 (GRCm39)	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,459,274 (GRCm39)	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,665,927 (GRCm39)	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,940,323 (GRCm39)	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,631,591 (GRCm39)	V264D	probably damaging	Het
Jph1	A	T	1: 17,167,608 (GRCm39)	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,265,695 (GRCm39)	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,751,826 (GRCm39)	F144S	probably damaging	Het
Kcnq1	G	A	7: 142,738,241 (GRCm39)	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,704,355 (GRCm39)	V813E	probably damaging	Het
Kntc1	T	A	5: 123,949,439 (GRCm39)	F1937I	probably damaging	Het
Lgr5	T	C	10: 115,288,319 (GRCm39)	N703S	probably damaging	Het
Map4k1	A	T	7: 28,688,032 (GRCm39)	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,520,940 (GRCm39)	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,868,708 (GRCm39)	G350C	probably damaging	Het
Myh2	A	T	11: 67,082,599 (GRCm39)	T1390S	possibly damaging	Het
Npat	T	A	9: 53,469,526 (GRCm39)		probably benign	Het
Nr2e1	T	A	10: 42,443,969 (GRCm39)	D251V	possibly damaging	Het
Or1x2	A	G	11: 50,918,162 (GRCm39)	N111S	probably benign	Het
Or4d10	C	T	19: 12,051,421 (GRCm39)	V192I	probably benign	Het
Or5b107	C	A	19: 13,142,767 (GRCm39)	P130T	probably damaging	Het
Plekha5	T	A	6: 140,470,621 (GRCm39)	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,529,256 (GRCm39)	V368A	probably damaging	Het
Psmb8	T	A	17: 34,419,168 (GRCm39)	L154Q	probably damaging	Het
Rab40c	A	C	17: 26,103,644 (GRCm39)	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,437,689 (GRCm39)	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,078,122 (GRCm39)	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,082,368 (GRCm39)	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,678,530 (GRCm39)	H111R	probably damaging	Het
Sspo	C	A	6: 48,452,821 (GRCm39)	P2843H	probably damaging	Het
Stk39	T	C	2: 68,144,908 (GRCm39)	T389A	probably benign	Het
Synrg	T	A	11: 83,910,531 (GRCm39)	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,908,076 (GRCm39)	S229N	probably benign	Het
Thsd1	G	A	8: 22,742,247 (GRCm39)	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,344,297 (GRCm39)	D1387E	probably benign	Het
Tmem145	G	T	7: 25,010,816 (GRCm39)	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,090,718 (GRCm39)	V187A	probably damaging	Het
Unc13c	T	A	9: 73,600,524 (GRCm39)	M1407L	probably benign	Het
Vps39	C	T	2: 120,153,609 (GRCm39)	G655D	probably benign	Het
Wwtr1	T	C	3: 57,482,241 (GRCm39)		probably benign	Het
Xrn1	T	C	9: 95,930,397 (GRCm39)	S1535P	probably damaging	Het

Other mutations in Ldb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Ldb2	APN	5	44,699,026 (GRCm39)	splice site	probably null
IGL01757:Ldb2	APN	5	44,699,209 (GRCm39)	splice site	probably benign
IGL03105:Ldb2	APN	5	44,956,715 (GRCm39)	missense	possibly damaging	0.70
IGL03108:Ldb2	APN	5	44,699,057 (GRCm39)	missense	probably damaging	1.00
R0152:Ldb2	UTSW	5	44,699,141 (GRCm39)	missense	possibly damaging	0.86
R0178:Ldb2	UTSW	5	44,630,841 (GRCm39)	missense	probably damaging	1.00
R0841:Ldb2	UTSW	5	44,690,016 (GRCm39)	missense	probably damaging	1.00
R1145:Ldb2	UTSW	5	44,690,016 (GRCm39)	missense	probably damaging	1.00
R1145:Ldb2	UTSW	5	44,690,016 (GRCm39)	missense	probably damaging	1.00
R1318:Ldb2	UTSW	5	44,692,379 (GRCm39)	critical splice donor site	probably null
R1607:Ldb2	UTSW	5	44,630,814 (GRCm39)	missense	probably damaging	0.99
R2863:Ldb2	UTSW	5	44,637,666 (GRCm39)	missense	probably damaging	0.99
R3803:Ldb2	UTSW	5	44,630,736 (GRCm39)	missense	probably benign	0.38
R4502:Ldb2	UTSW	5	44,826,749 (GRCm39)	missense	probably damaging	1.00
R4613:Ldb2	UTSW	5	44,633,893 (GRCm39)	missense	probably benign	0.27
R4985:Ldb2	UTSW	5	44,637,645 (GRCm39)	missense	probably damaging	1.00
R5475:Ldb2	UTSW	5	44,699,174 (GRCm39)	missense	probably damaging	1.00
R5512:Ldb2	UTSW	5	44,637,586 (GRCm39)	missense	probably damaging	1.00
R6058:Ldb2	UTSW	5	44,633,905 (GRCm39)	missense	possibly damaging	0.66
R6282:Ldb2	UTSW	5	44,690,007 (GRCm39)	missense	probably damaging	1.00
R6438:Ldb2	UTSW	5	44,637,652 (GRCm39)	missense	probably damaging	0.98
R6770:Ldb2	UTSW	5	44,826,738 (GRCm39)	missense	probably damaging	0.99
R6830:Ldb2	UTSW	5	44,699,199 (GRCm39)	missense	probably damaging	1.00
R8061:Ldb2	UTSW	5	44,637,612 (GRCm39)	missense	probably damaging	1.00
R8819:Ldb2	UTSW	5	44,956,757 (GRCm39)	nonsense	probably null
R8820:Ldb2	UTSW	5	44,956,757 (GRCm39)	nonsense	probably null
X0026:Ldb2	UTSW	5	44,690,070 (GRCm39)	missense	probably damaging	0.99
X0028:Ldb2	UTSW	5	44,699,136 (GRCm39)	missense	probably benign	0.04

Posted On

2014-05-07