Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Ldb2'

470262

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

041824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44629474-44957022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44633893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 326 (Q326K)

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

probably benign
Transcript: ENSMUST00000199256
AA Change: Q324K

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143775
Gene: ENSMUSG00000039706
AA Change: Q324K

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

probably benign
Transcript: ENSMUST00000199534
AA Change: Q326K

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142442
Gene: ENSMUSG00000039706
AA Change: Q326K

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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,439,167 (GRCm39)	L130I	probably benign	Het
Abca9	A	G	11: 110,035,610 (GRCm39)	V670A	probably benign	Het
Adad1	A	G	3: 37,146,182 (GRCm39)	N517D	probably damaging	Het
Ankle2	T	C	5: 110,379,245 (GRCm39)	L48P	probably benign	Het
Aoc3	A	T	11: 101,228,485 (GRCm39)		probably benign	Het
Areg	A	G	5: 91,291,363 (GRCm39)	K102R	probably benign	Het
Bmp1	T	C	14: 70,745,963 (GRCm39)	T167A	probably damaging	Het
C4b	C	T	17: 34,953,525 (GRCm39)	G986D	probably benign	Het
Caml	G	T	13: 55,772,955 (GRCm39)	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,122,358 (GRCm39)	R53S	probably benign	Het
Cdh22	T	A	2: 164,985,576 (GRCm39)	I337L	probably benign	Het
Col12a1	A	T	9: 79,554,883 (GRCm39)	V2065D	probably benign	Het
Copg2	A	G	6: 30,788,531 (GRCm39)	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,500,526 (GRCm39)	P438S	probably damaging	Het
Dchs1	T	C	7: 105,421,931 (GRCm39)	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,500,177 (GRCm39)	V230A	probably damaging	Het
Depdc5	T	A	5: 33,132,790 (GRCm39)	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,839,933 (GRCm39)		probably null	Het
Dsc2	A	T	18: 20,174,876 (GRCm39)	D466E	probably damaging	Het
Dthd1	A	G	5: 62,984,411 (GRCm39)	D372G	probably damaging	Het
Eeig2	A	T	3: 108,934,571 (GRCm39)	F23I	probably benign	Het
Eogt	G	T	6: 97,111,265 (GRCm39)	Q199K	probably benign	Het
Epha6	C	A	16: 59,486,960 (GRCm39)	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,431,243 (GRCm39)	E128*	probably null	Het
Fgf20	T	C	8: 40,739,652 (GRCm39)	R33G	probably benign	Het
Fgg	A	G	3: 82,917,397 (GRCm39)	N142S	probably damaging	Het
Fhip2a	C	A	19: 57,359,619 (GRCm39)	P53Q	probably damaging	Het
Gba1	C	T	3: 89,115,951 (GRCm39)		probably null	Het
Gli2	A	G	1: 118,765,241 (GRCm39)	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,219,289 (GRCm39)	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,685,319 (GRCm39)	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,096,653 (GRCm39)	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,158,693 (GRCm39)	S652T	unknown	Het
Lipi	C	A	16: 75,357,689 (GRCm39)	R292L	probably benign	Het
Lrrc36	G	A	8: 106,176,246 (GRCm39)	V207I	possibly damaging	Het
Lyplal1	C	T	1: 185,820,949 (GRCm39)	G166D	probably benign	Het
Map1b	A	T	13: 99,566,810 (GRCm39)	Y1970*	probably null	Het
Map2	A	G	1: 66,464,628 (GRCm39)	N287D	probably damaging	Het
Map3k11	A	T	19: 5,747,498 (GRCm39)	Q578L	probably benign	Het
Map3k11	G	T	19: 5,747,499 (GRCm39)	Q578H	probably damaging	Het
Map4k4	G	A	1: 40,056,351 (GRCm39)	S1012N	probably benign	Het
Mapk13	A	T	17: 28,988,426 (GRCm39)	N15Y	probably damaging	Het
Mapk15	G	A	15: 75,867,759 (GRCm39)	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,097,456 (GRCm39)	R152L	possibly damaging	Het
Mtrex	C	A	13: 113,058,273 (GRCm39)	E53*	probably null	Het
Muc5ac	T	G	7: 141,344,840 (GRCm39)	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,486,440 (GRCm39)	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,489,737 (GRCm39)	H647Q	probably benign	Het
Neo1	A	G	9: 58,796,324 (GRCm39)	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,490,186 (GRCm39)	T514A	probably benign	Het
Or10al4	A	G	17: 38,037,587 (GRCm39)	Y224C	probably damaging	Het
Or12j4	A	T	7: 140,046,981 (GRCm39)	Y289F	probably damaging	Het
Or7a42	A	G	10: 78,791,899 (GRCm39)	N287D	probably damaging	Het
Or8d4	T	A	9: 40,039,018 (GRCm39)	K80*	probably null	Het
Orc2	A	T	1: 58,539,468 (GRCm39)	L57*	probably null	Het
Otoa	G	A	7: 120,744,791 (GRCm39)	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,717,247 (GRCm39)	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,616,742 (GRCm39)	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,283,753 (GRCm39)	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,237,187 (GRCm39)	D108G	probably benign	Het
Pink1	T	C	4: 138,044,621 (GRCm39)	D342G	probably damaging	Het
Prkacb	A	T	3: 146,443,753 (GRCm39)	V336E	probably damaging	Het
Ptpro	C	A	6: 137,393,834 (GRCm39)	S13*	probably null	Het
Rfng	A	G	11: 120,673,476 (GRCm39)	L215P	probably damaging	Het
Rpn2	T	C	2: 157,144,345 (GRCm39)	F336L	possibly damaging	Het
Sacs	A	G	14: 61,449,246 (GRCm39)		probably null	Het
Sirpb1a	T	A	3: 15,482,097 (GRCm39)	Y77F	probably benign	Het
Slc30a8	A	G	15: 52,196,971 (GRCm39)	D294G	probably benign	Het
Sox13	T	C	1: 133,316,672 (GRCm39)	I212V	probably benign	Het
Srebf2	T	A	15: 82,069,549 (GRCm39)	I657N	possibly damaging	Het
Srsf6	C	A	2: 162,775,629 (GRCm39)	T146K	probably benign	Het
Strn4	T	C	7: 16,558,088 (GRCm39)	V162A	possibly damaging	Het
Sulf2	T	C	2: 165,974,525 (GRCm39)	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,411,789 (GRCm39)	I1016F	probably damaging	Het
Tfrc	G	T	16: 32,437,475 (GRCm39)	A278S	probably damaging	Het
Tnrc6a	T	G	7: 122,783,512 (GRCm39)		probably null	Het
Vmn1r83	T	C	7: 12,055,695 (GRCm39)	I121V	probably benign	Het
Vps13d	T	C	4: 144,858,225 (GRCm39)	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,206,230 (GRCm39)	D397E	probably damaging	Het
Wipf3	T	C	6: 54,462,540 (GRCm39)	L250P	probably damaging	Het
Xirp1	A	G	9: 119,848,748 (GRCm39)	F45S	probably damaging	Het
Xpo5	A	G	17: 46,547,889 (GRCm39)	T910A	probably benign	Het
Zfp235	T	C	7: 23,841,101 (GRCm39)	Y507H	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
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

Predicted Primers

Posted On

2017-03-08