Mutagenetix > Incidental Mutation

Incidental Mutation 'R6058:Ldb2'

483042

Institutional Source

Beutler Lab

Gene Symbol

Ldb2

Ensembl Gene

ENSMUSG00000039706

Gene Name

LIM domain binding 2

Synonyms

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

MMRRC Submission

044224-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6058 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44629474-44957022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44633905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 322 (T322A)

Ref Sequence

ENSEMBL: ENSMUSP00000142442 (fasta)

Gene Model

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

AlphaFold

O55203

Predicted Effect

probably benign
Transcript: ENSMUST00000070748

SMART Domains

Protein: ENSMUSP00000067737
Gene: ENSMUSG00000039706

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

possibly damaging
Transcript: ENSMUST00000199256
AA Change: T320A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143775
Gene: ENSMUSG00000039706
AA Change: T320A

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 benign
Transcript: ENSMUST00000199261

SMART Domains

Protein: ENSMUSP00000143289
Gene: ENSMUSG00000039706

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

possibly damaging
Transcript: ENSMUST00000199534
AA Change: T322A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142442
Gene: ENSMUSG00000039706
AA Change: T322A

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

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Adamts20	G	A	15: 94,227,928 (GRCm39)	R1040*	probably null	Het
Akt1	A	G	12: 112,628,634 (GRCm39)	L52P	probably damaging	Het
Alk	T	A	17: 72,176,742 (GRCm39)	T1521S	probably benign	Het
Armt1	A	G	10: 4,403,488 (GRCm39)	N191S	probably damaging	Het
Ascl1	T	G	10: 87,328,562 (GRCm39)	N130T	probably damaging	Het
Bahcc1	T	G	11: 120,178,211 (GRCm39)	S2257A	probably damaging	Het
Cd86	T	C	16: 36,449,377 (GRCm39)	M7V	possibly damaging	Het
Cep57	A	T	9: 13,722,057 (GRCm39)	S304R	possibly damaging	Het
Cep57l1	A	T	10: 41,616,918 (GRCm39)	I123N	possibly damaging	Het
Cers6	A	G	2: 68,692,008 (GRCm39)	N10S	probably benign	Het
Chrng	A	G	1: 87,139,074 (GRCm39)	D475G	probably damaging	Het
Crabp1	T	A	9: 54,680,129 (GRCm39)	V128E	probably damaging	Het
Csnk2a1-ps3	T	C	1: 156,352,425 (GRCm39)	Y209H	probably damaging	Het
Dcdc2a	T	C	13: 25,240,354 (GRCm39)	V34A	possibly damaging	Het
Eeig1	G	A	2: 32,450,102 (GRCm39)	V117I	probably benign	Het
Fbn1	A	G	2: 125,308,532 (GRCm39)	C177R	possibly damaging	Het
Fras1	A	G	5: 96,857,844 (GRCm39)	D2046G	probably benign	Het
Glul	T	C	1: 153,783,087 (GRCm39)	I220T	probably benign	Het
Gpc6	C	T	14: 118,202,182 (GRCm39)	T464M	probably damaging	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
H2-K2	G	T	17: 34,218,304 (GRCm39)	T204K	probably benign	Het
H2-K2	T	C	17: 34,218,305 (GRCm39)	T204A	probably benign	Het
Hecw2	T	C	1: 53,963,135 (GRCm39)	H792R	possibly damaging	Het
Herc4	T	A	10: 63,110,821 (GRCm39)	I244K	possibly damaging	Het
Hsd11b2	G	T	8: 106,249,966 (GRCm39)	R359L	possibly damaging	Het
Igsf9	G	A	1: 172,312,456 (GRCm39)	E56K	probably damaging	Het
Il9	T	C	13: 56,628,495 (GRCm39)	T65A	possibly damaging	Het
Kcnip1	T	C	11: 33,592,478 (GRCm39)	T102A	probably damaging	Het
L3mbtl2	T	C	15: 81,551,555 (GRCm39)	S74P	probably benign	Het
Lamc2	C	T	1: 153,012,575 (GRCm39)	D700N	probably benign	Het
Lix1	A	T	17: 17,664,012 (GRCm39)	I117F	probably damaging	Het
Map2	T	A	1: 66,454,573 (GRCm39)	D1154E	probably benign	Het
Marco	A	T	1: 120,404,435 (GRCm39)	I425N	probably damaging	Het
Mark4	T	C	7: 19,160,310 (GRCm39)	E650G	probably benign	Het
Mink1	A	G	11: 70,502,546 (GRCm39)	T1086A	possibly damaging	Het
Nxf1	G	A	19: 8,745,186 (GRCm39)	V479M	probably damaging	Het
Or10v1	T	A	19: 11,873,388 (GRCm39)	M1K	probably null	Het
Or11g2	T	C	14: 50,856,158 (GRCm39)	F160L	probably benign	Het
Or2n1e	A	G	17: 38,586,150 (GRCm39)	T163A	probably damaging	Het
Or5h23	T	C	16: 58,906,273 (GRCm39)	D191G	probably damaging	Het
Or5h23	A	G	16: 58,906,792 (GRCm39)	V18A	probably benign	Het
Or6c5	T	C	10: 129,074,329 (GRCm39)	S104P	probably damaging	Het
Otx2	T	C	14: 48,896,215 (GRCm39)	D281G	probably damaging	Het
Pcdhga3	A	T	18: 37,808,141 (GRCm39)	D198V	probably damaging	Het
Ppp1r13l	T	C	7: 19,104,500 (GRCm39)	V273A	probably benign	Het
Ppp6r2	T	C	15: 89,137,455 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,143,995 (GRCm39)	I273F	possibly damaging	Het
Prg4	C	T	1: 150,327,197 (GRCm39)	G873D	probably damaging	Het
Ptprq	T	C	10: 107,471,135 (GRCm39)	N1422S	probably benign	Het
Rbm27	A	T	18: 42,460,570 (GRCm39)	K839M	probably damaging	Het
Rere	A	T	4: 150,553,255 (GRCm39)	N149I	probably damaging	Het
Ret	A	G	6: 118,156,280 (GRCm39)	L340S	probably benign	Het
Sel1l2	T	A	2: 140,082,889 (GRCm39)	D583V	possibly damaging	Het
Shroom1	A	T	11: 53,354,308 (GRCm39)	D76V	possibly damaging	Het
Slc5a3	C	A	16: 91,875,963 (GRCm39)	S673R	probably benign	Het
Spink1	A	T	18: 43,861,247 (GRCm39)	I74N	probably damaging	Het
Tbc1d1	T	A	5: 64,435,352 (GRCm39)	S497T	probably damaging	Het
Trim3	C	T	7: 105,260,278 (GRCm39)	R741Q	probably damaging	Het
Ttn	A	G	2: 76,747,022 (GRCm39)	C4676R	probably benign	Het
Ubqlnl	G	A	7: 103,797,959 (GRCm39)	P513S	probably benign	Het
Unc13d	C	T	11: 115,964,394 (GRCm39)		probably null	Het
Vmn1r125	TGG	TG	7: 21,006,144 (GRCm39)		probably null	Het
Vmn2r7	A	T	3: 64,632,436 (GRCm39)	C9S	probably benign	Het
Xdh	T	A	17: 74,213,264 (GRCm39)	M829L	probably damaging	Het
Zcrb1	A	G	15: 93,285,463 (GRCm39)	F173L	probably benign	Het
Zfp41	T	C	15: 75,490,372 (GRCm39)	V108A	probably damaging	Het
Zfp438	T	C	18: 5,213,209 (GRCm39)	E583G	probably damaging	Het
Zfp628	T	C	7: 4,923,917 (GRCm39)	L713P	probably damaging	Het
Zfp664	T	A	5: 124,963,042 (GRCm39)	C145*	probably null	Het
Zfp683	T	C	4: 133,786,042 (GRCm39)	C390R	probably damaging	Het
Zfp941	G	A	7: 140,392,010 (GRCm39)	P450S	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
IGL01936:Ldb2	APN	5	44,637,586 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTGAGAGTAGCCCACGTAC -3'
(R):5'- GCAACAACAGTGTATGTGTGC -3'

Sequencing Primer
(F):5'- AGAGTAGCCCACGTACCCTTG -3'
(R):5'- ATACATGTGTATGTGAGTGTGTGTG -3'

Posted On

2017-07-14