Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00938:Ltbp2'

28747

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ltbp2

Ensembl Gene

ENSMUSG00000002020

Gene Name

latent transforming growth factor beta binding protein 2

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.794) question?

Stock #

IGL00938

Quality Score

Status

Chromosome

Chromosomal Location

84829986-84923306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84878573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 309 (R309G)

Ref Sequence

ENSEMBL: ENSMUSP00000127693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002073] [ENSMUST00000110254] [ENSMUST00000163189]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002073
AA Change: R309G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002073
Gene: ENSMUSG00000002020
AA Change: R309G

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
low complexity region	99	108	N/A	INTRINSIC
EGF	184	213	6.55e-1	SMART
low complexity region	255	275	N/A	INTRINSIC
EGF	384	413	8.19e-2	SMART
low complexity region	515	526	N/A	INTRINSIC
Pfam:TB	546	582	3.8e-9	PFAM
EGF_CA	606	646	8.05e-10	SMART
Pfam:TB	666	707	3.4e-17	PFAM
EGF_CA	832	874	7.18e-7	SMART
EGF_CA	875	917	1.75e-10	SMART
EGF_CA	918	957	1.53e-10	SMART
EGF_CA	958	997	3.51e-10	SMART
EGF_CA	998	1038	8.3e-12	SMART
EGF_CA	1039	1080	4.56e-9	SMART
EGF_CA	1081	1122	4.56e-9	SMART
EGF_CA	1123	1163	8.76e-11	SMART
EGF_CA	1164	1205	4.38e-11	SMART
EGF_CA	1206	1246	1.75e-10	SMART
EGF_CA	1247	1290	2.24e-8	SMART
EGF_CA	1291	1332	6.01e-9	SMART
EGF	1336	1375	1.95e1	SMART
Pfam:TB	1410	1450	1.4e-13	PFAM
EGF_CA	1473	1515	2.31e-10	SMART
EGF_CA	1516	1555	7.93e-9	SMART
Pfam:TB	1582	1623	1e-13	PFAM
low complexity region	1691	1704	N/A	INTRINSIC
EGF	1724	1761	4e-5	SMART
EGF_CA	1762	1806	1.91e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110254
AA Change: R329G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105883
Gene: ENSMUSG00000002020
AA Change: R329G

Domain	Start	End	E-Value	Type
low complexity region	119	128	N/A	INTRINSIC
EGF	204	233	6.55e-1	SMART
low complexity region	275	295	N/A	INTRINSIC
EGF	404	433	8.19e-2	SMART
low complexity region	535	546	N/A	INTRINSIC
Pfam:TB	565	602	4e-8	PFAM
EGF_CA	626	666	8.05e-10	SMART
Pfam:TB	685	727	3.7e-16	PFAM
EGF_CA	852	894	7.18e-7	SMART
EGF_CA	895	934	1.53e-10	SMART
EGF_CA	935	974	3.51e-10	SMART
EGF_CA	975	1015	8.3e-12	SMART
EGF_CA	1016	1057	4.56e-9	SMART
EGF_CA	1058	1099	4.56e-9	SMART
EGF_CA	1100	1140	8.76e-11	SMART
EGF_CA	1141	1182	4.38e-11	SMART
EGF_CA	1183	1223	1.75e-10	SMART
EGF_CA	1224	1267	2.24e-8	SMART
EGF_CA	1268	1309	6.01e-9	SMART
EGF	1313	1352	1.95e1	SMART
Pfam:TB	1387	1427	1.4e-11	PFAM
EGF_CA	1450	1492	2.31e-10	SMART
EGF_CA	1493	1532	7.93e-9	SMART
Pfam:TB	1558	1600	4.6e-13	PFAM
low complexity region	1668	1681	N/A	INTRINSIC
EGF	1701	1738	4e-5	SMART
EGF_CA	1739	1783	1.91e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163189
AA Change: R309G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000127693
Gene: ENSMUSG00000002020
AA Change: R309G

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
low complexity region	99	108	N/A	INTRINSIC
EGF	184	213	6.55e-1	SMART
low complexity region	255	275	N/A	INTRINSIC
EGF	384	413	8.19e-2	SMART
low complexity region	515	526	N/A	INTRINSIC
Pfam:TB	545	582	4e-8	PFAM
EGF_CA	606	646	8.05e-10	SMART
Pfam:TB	665	707	3.8e-16	PFAM
EGF_CA	832	874	7.18e-7	SMART
EGF_CA	875	914	1.53e-10	SMART
EGF_CA	915	954	3.51e-10	SMART
EGF_CA	955	995	8.3e-12	SMART
EGF_CA	996	1037	4.56e-9	SMART
EGF_CA	1038	1079	4.56e-9	SMART
EGF_CA	1080	1120	8.76e-11	SMART
EGF_CA	1121	1162	4.38e-11	SMART
EGF_CA	1163	1203	1.75e-10	SMART
EGF_CA	1204	1247	2.24e-8	SMART
EGF_CA	1248	1289	6.01e-9	SMART
EGF	1293	1332	1.95e1	SMART
Pfam:TB	1367	1407	1.5e-11	PFAM
EGF_CA	1430	1472	2.31e-10	SMART
EGF_CA	1473	1512	7.93e-9	SMART
Pfam:TB	1538	1580	4.7e-13	PFAM
low complexity region	1648	1661	N/A	INTRINSIC
EGF	1681	1718	4e-5	SMART
EGF_CA	1719	1763	1.91e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168699

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 family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit early embryonic lethality prior to E6.5. Mice homozygous for a different null allele are viable, fertile, and developmentally normal but develop lens dislocations due to ciliary zonule fragmentation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	G	4: 86,260,515 (GRCm39)	I909V	possibly damaging	Het
Alkal2	C	A	12: 30,937,089 (GRCm39)	H101N	probably damaging	Het
Camk2g	C	T	14: 20,787,398 (GRCm39)	G500S	probably damaging	Het
Col4a1	G	A	8: 11,286,456 (GRCm39)		probably benign	Het
Fry	T	A	5: 150,293,645 (GRCm39)	V446E	probably damaging	Het
Gpc2	C	A	5: 138,277,169 (GRCm39)	R86L	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Krt16	A	T	11: 100,139,543 (GRCm39)	C58*	probably null	Het
Mapkapk5	T	C	5: 121,675,166 (GRCm39)		probably benign	Het
Mpdz	G	A	4: 81,210,749 (GRCm39)	A1665V	probably damaging	Het
Mpp7	T	C	18: 7,353,297 (GRCm39)	T470A	probably benign	Het
Mypn	T	A	10: 63,028,202 (GRCm39)	D287V	probably damaging	Het
Nup160	T	C	2: 90,563,171 (GRCm39)	L1312P	probably damaging	Het
Or4a77	C	T	2: 89,487,420 (GRCm39)	V122M	probably damaging	Het
Or6k14	T	C	1: 173,927,933 (GRCm39)	M303T	probably benign	Het
Poln	C	A	5: 34,286,568 (GRCm39)	C200F	probably damaging	Het
Pparg	A	G	6: 115,440,100 (GRCm39)	I225V	probably benign	Het
Pspn	T	C	17: 57,306,629 (GRCm39)	E100G	probably benign	Het
Slc12a8	G	A	16: 33,361,267 (GRCm39)	V50I	probably damaging	Het
Suz12	A	G	11: 79,898,395 (GRCm39)		probably benign	Het
Ubiad1	A	G	4: 148,520,814 (GRCm39)	F270S	probably benign	Het
Vmn1r185	T	C	7: 26,311,116 (GRCm39)	I130V	probably benign	Het
Vmn1r210	A	T	13: 23,011,538 (GRCm39)	C249*	probably null	Het

Other mutations in Ltbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Ltbp2	APN	12	84,837,838 (GRCm39)	missense	probably damaging	1.00
IGL01397:Ltbp2	APN	12	84,837,042 (GRCm39)	missense	probably damaging	1.00
IGL01570:Ltbp2	APN	12	84,840,807 (GRCm39)	missense	probably benign	0.05
IGL01631:Ltbp2	APN	12	84,855,920 (GRCm39)	critical splice donor site	probably null
IGL01662:Ltbp2	APN	12	84,856,020 (GRCm39)	missense	probably benign	0.00
IGL01728:Ltbp2	APN	12	84,837,783 (GRCm39)	missense	probably damaging	0.99
IGL01839:Ltbp2	APN	12	84,840,432 (GRCm39)	missense	possibly damaging	0.48
IGL01946:Ltbp2	APN	12	84,877,522 (GRCm39)	missense	probably damaging	1.00
IGL01977:Ltbp2	APN	12	84,876,973 (GRCm39)	missense	probably damaging	1.00
IGL02220:Ltbp2	APN	12	84,876,083 (GRCm39)	missense	possibly damaging	0.93
IGL02340:Ltbp2	APN	12	84,839,729 (GRCm39)	critical splice donor site	probably null
IGL02430:Ltbp2	APN	12	84,846,175 (GRCm39)	missense	probably damaging	1.00
IGL02492:Ltbp2	APN	12	84,856,439 (GRCm39)	missense	probably damaging	1.00
IGL02517:Ltbp2	APN	12	84,832,091 (GRCm39)	missense	probably benign	0.42
IGL02794:Ltbp2	APN	12	84,838,709 (GRCm39)	missense	probably damaging	1.00
deft	UTSW	12	84,900,686 (GRCm39)	missense	probably damaging	0.98
masterful	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
practiced	UTSW	12	84,856,122 (GRCm39)	missense	probably damaging	1.00
R0045:Ltbp2	UTSW	12	84,860,062 (GRCm39)	missense	probably damaging	1.00
R0045:Ltbp2	UTSW	12	84,856,361 (GRCm39)	missense	probably damaging	1.00
R0091:Ltbp2	UTSW	12	84,840,507 (GRCm39)	missense	probably damaging	1.00
R0094:Ltbp2	UTSW	12	84,846,200 (GRCm39)	missense	probably damaging	1.00
R0166:Ltbp2	UTSW	12	84,833,132 (GRCm39)	missense	probably benign	0.28
R0265:Ltbp2	UTSW	12	84,832,743 (GRCm39)	splice site	probably null
R0394:Ltbp2	UTSW	12	84,853,198 (GRCm39)	splice site	probably benign
R0535:Ltbp2	UTSW	12	84,837,826 (GRCm39)	missense	probably damaging	1.00
R0535:Ltbp2	UTSW	12	84,831,632 (GRCm39)	missense	probably damaging	1.00
R1465:Ltbp2	UTSW	12	84,860,074 (GRCm39)	missense	probably damaging	1.00
R1465:Ltbp2	UTSW	12	84,860,074 (GRCm39)	missense	probably damaging	1.00
R1513:Ltbp2	UTSW	12	84,838,718 (GRCm39)	missense	probably damaging	1.00
R1858:Ltbp2	UTSW	12	84,877,555 (GRCm39)	nonsense	probably null
R1880:Ltbp2	UTSW	12	84,876,045 (GRCm39)	missense	probably benign	0.45
R1894:Ltbp2	UTSW	12	84,834,735 (GRCm39)	missense	probably damaging	1.00
R1900:Ltbp2	UTSW	12	84,877,432 (GRCm39)	missense	probably damaging	1.00
R1903:Ltbp2	UTSW	12	84,876,879 (GRCm39)	missense	probably benign	0.01
R1912:Ltbp2	UTSW	12	84,832,637 (GRCm39)	missense	probably damaging	0.98
R1993:Ltbp2	UTSW	12	84,855,220 (GRCm39)	critical splice acceptor site	probably null
R1995:Ltbp2	UTSW	12	84,855,220 (GRCm39)	critical splice acceptor site	probably null
R2069:Ltbp2	UTSW	12	84,840,507 (GRCm39)	missense	probably damaging	1.00
R2126:Ltbp2	UTSW	12	84,832,483 (GRCm39)	splice site	probably null
R2139:Ltbp2	UTSW	12	84,862,753 (GRCm39)	missense	probably damaging	1.00
R2341:Ltbp2	UTSW	12	84,855,937 (GRCm39)	missense	probably benign	0.08
R2511:Ltbp2	UTSW	12	84,851,183 (GRCm39)	splice site	probably null
R3737:Ltbp2	UTSW	12	84,851,248 (GRCm39)	missense	probably damaging	1.00
R3738:Ltbp2	UTSW	12	84,851,248 (GRCm39)	missense	probably damaging	1.00
R3739:Ltbp2	UTSW	12	84,851,248 (GRCm39)	missense	probably damaging	1.00
R3889:Ltbp2	UTSW	12	84,831,681 (GRCm39)	unclassified	probably benign
R4034:Ltbp2	UTSW	12	84,851,248 (GRCm39)	missense	probably damaging	1.00
R4542:Ltbp2	UTSW	12	84,878,593 (GRCm39)	nonsense	probably null
R4621:Ltbp2	UTSW	12	84,856,122 (GRCm39)	missense	probably damaging	1.00
R4623:Ltbp2	UTSW	12	84,856,122 (GRCm39)	missense	probably damaging	1.00
R4831:Ltbp2	UTSW	12	84,840,414 (GRCm39)	missense	possibly damaging	0.55
R5080:Ltbp2	UTSW	12	84,850,638 (GRCm39)	missense	probably damaging	1.00
R5116:Ltbp2	UTSW	12	84,856,511 (GRCm39)	missense	probably damaging	1.00
R5351:Ltbp2	UTSW	12	84,837,132 (GRCm39)	missense	possibly damaging	0.95
R5445:Ltbp2	UTSW	12	84,856,428 (GRCm39)	missense	probably null	1.00
R5608:Ltbp2	UTSW	12	84,834,238 (GRCm39)	splice site	probably null
R5784:Ltbp2	UTSW	12	84,915,513 (GRCm39)	missense	probably damaging	1.00
R5838:Ltbp2	UTSW	12	84,835,875 (GRCm39)	missense	probably benign	0.16
R5859:Ltbp2	UTSW	12	84,840,837 (GRCm39)	missense	possibly damaging	0.52
R6004:Ltbp2	UTSW	12	84,922,923 (GRCm39)	missense	probably benign	0.00
R6028:Ltbp2	UTSW	12	84,831,626 (GRCm39)	missense	probably damaging	1.00
R6347:Ltbp2	UTSW	12	84,900,686 (GRCm39)	missense	probably damaging	0.98
R6615:Ltbp2	UTSW	12	84,860,091 (GRCm39)	missense	probably damaging	1.00
R6636:Ltbp2	UTSW	12	84,922,612 (GRCm39)	missense	probably benign	0.00
R6637:Ltbp2	UTSW	12	84,922,612 (GRCm39)	missense	probably benign	0.00
R6755:Ltbp2	UTSW	12	84,841,847 (GRCm39)	missense	probably damaging	1.00
R6759:Ltbp2	UTSW	12	84,834,184 (GRCm39)	missense	probably damaging	0.99
R6806:Ltbp2	UTSW	12	84,856,012 (GRCm39)	missense	possibly damaging	0.74
R6968:Ltbp2	UTSW	12	84,835,857 (GRCm39)	critical splice donor site	probably null
R7084:Ltbp2	UTSW	12	84,915,459 (GRCm39)	missense	probably damaging	1.00
R7250:Ltbp2	UTSW	12	84,834,166 (GRCm39)	nonsense	probably null
R7374:Ltbp2	UTSW	12	84,876,949 (GRCm39)	missense	probably damaging	1.00
R7501:Ltbp2	UTSW	12	84,877,419 (GRCm39)	missense	probably damaging	1.00
R7523:Ltbp2	UTSW	12	84,837,808 (GRCm39)	missense	probably benign	0.00
R7754:Ltbp2	UTSW	12	84,860,012 (GRCm39)	critical splice donor site	probably null
R7827:Ltbp2	UTSW	12	84,836,655 (GRCm39)	missense	probably benign	0.19
R8042:Ltbp2	UTSW	12	84,838,673 (GRCm39)	missense	probably damaging	0.99
R8110:Ltbp2	UTSW	12	84,850,676 (GRCm39)	nonsense	probably null
R8411:Ltbp2	UTSW	12	84,833,187 (GRCm39)	missense	probably damaging	1.00
R8688:Ltbp2	UTSW	12	84,850,578 (GRCm39)	missense	probably benign	0.20
R8711:Ltbp2	UTSW	12	84,900,515 (GRCm39)	missense	probably benign	0.00
R8712:Ltbp2	UTSW	12	84,853,124 (GRCm39)	missense	probably benign	0.08
R8893:Ltbp2	UTSW	12	84,875,316 (GRCm39)	missense	probably damaging	1.00
R8978:Ltbp2	UTSW	12	84,834,164 (GRCm39)	missense	probably benign	0.00
R9016:Ltbp2	UTSW	12	84,856,467 (GRCm39)	missense	probably benign	0.02
R9123:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9129:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9132:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9144:Ltbp2	UTSW	12	84,856,426 (GRCm39)	missense	probably damaging	1.00
R9150:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9152:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9156:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9157:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9158:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9159:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9160:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9199:Ltbp2	UTSW	12	84,832,750 (GRCm39)	missense	probably benign	0.09
R9212:Ltbp2	UTSW	12	84,839,824 (GRCm39)	missense	probably damaging	1.00
R9275:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9276:Ltbp2	UTSW	12	84,876,885 (GRCm39)	missense	possibly damaging	0.79
R9276:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9278:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9279:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9280:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9281:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9312:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9313:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9331:Ltbp2	UTSW	12	84,922,965 (GRCm39)	missense	probably benign
R9355:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9375:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9377:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9378:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9450:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9457:Ltbp2	UTSW	12	84,835,927 (GRCm39)	missense	probably benign	0.19
R9486:Ltbp2	UTSW	12	84,878,648 (GRCm39)	missense	possibly damaging	0.49
R9505:Ltbp2	UTSW	12	84,900,638 (GRCm39)	missense	probably damaging	1.00
R9512:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9581:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9582:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9645:Ltbp2	UTSW	12	84,837,864 (GRCm39)	missense	probably benign	0.00
R9747:Ltbp2	UTSW	12	84,915,515 (GRCm39)	missense	probably damaging	1.00
R9792:Ltbp2	UTSW	12	84,876,128 (GRCm39)	missense	probably damaging	0.99
R9795:Ltbp2	UTSW	12	84,876,128 (GRCm39)	missense	probably damaging	0.99
X0017:Ltbp2	UTSW	12	84,875,302 (GRCm39)	missense	probably damaging	1.00
X0026:Ltbp2	UTSW	12	84,876,973 (GRCm39)	missense	probably damaging	1.00
Z1176:Ltbp2	UTSW	12	84,922,627 (GRCm39)	missense	probably benign	0.01
Z1177:Ltbp2	UTSW	12	84,876,090 (GRCm39)	missense	possibly damaging	0.87

Posted On

2013-04-17