Mutagenetix > Incidental Mutation

Incidental Mutation 'R9157:Ltbp2'

695462

Institutional Source

Beutler Lab

Gene Symbol

Ltbp2

Ensembl Gene

ENSMUSG00000002020

Gene Name

latent transforming growth factor beta binding protein 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.794) question?

Stock #

R9157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84829986-84923306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84837864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1192 (P1192L)

Ref Sequence

ENSEMBL: ENSMUSP00000105883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002073] [ENSMUST00000110254] [ENSMUST00000163189] [ENSMUST00000166383]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002073
AA Change: P1215L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000002073
Gene: ENSMUSG00000002020
AA Change: P1215L

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: P1192L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000105883
Gene: ENSMUSG00000002020
AA Change: P1192L

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: P1172L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000127693
Gene: ENSMUSG00000002020
AA Change: P1172L

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

probably benign
Transcript: ENSMUST00000163214

SMART Domains

Protein: ENSMUSP00000132067
Gene: ENSMUSG00000002020

Domain	Start	End	E-Value	Type
EGF_CA	6	46	8.76e-11	SMART
EGF_CA	47	90	2.24e-8	SMART
EGF_CA	91	132	6.01e-9	SMART
EGF	136	175	1.95e1	SMART
Pfam:TB	210	250	1.5e-14	PFAM
EGF	276	307	1.5e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165141

SMART Domains

Protein: ENSMUSP00000132690
Gene: ENSMUSG00000002020

Domain	Start	End	E-Value	Type
EGF	1	31	1.2e1	SMART
EGF_CA	32	71	3.51e-10	SMART
EGF_CA	72	112	8.3e-12	SMART
EGF_CA	113	154	4.56e-9	SMART
EGF_like	155	183	1.67e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166383

SMART Domains

Protein: ENSMUSP00000127255
Gene: ENSMUSG00000002020

Domain	Start	End	E-Value	Type
EGF_CA	8	49	2.13e-9	SMART
Pfam:TB	75	117	1.3e-14	PFAM
low complexity region	185	198	N/A	INTRINSIC

Meta Mutation Damage Score

0.0892

Coding Region Coverage

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

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,207,220 (GRCm39)	T324A	probably benign	Het
Adam9	A	T	8: 25,493,331 (GRCm39)	F92L	probably damaging	Het
Adgrb1	A	G	15: 74,411,624 (GRCm39)	T376A	probably damaging	Het
Aff3	A	C	1: 38,249,559 (GRCm39)	I516S	probably benign	Het
Bdp1	C	T	13: 100,186,436 (GRCm39)	S1672N	probably benign	Het
Btc	A	T	5: 91,513,980 (GRCm39)	I94N	probably damaging	Het
Ccdc168	A	G	1: 44,096,520 (GRCm39)	V1526A	probably benign	Het
Ccdc47	A	T	11: 106,093,208 (GRCm39)		probably null	Het
Ceacam5	A	T	7: 17,493,419 (GRCm39)	Y814F	possibly damaging	Het
Celsr3	A	T	9: 108,707,185 (GRCm39)	R1223W	probably damaging	Het
Cenpc1	A	G	5: 86,166,316 (GRCm39)	M779T	probably benign	Het
Cfap20dc	T	A	14: 8,518,635 (GRCm38)	T274S	probably benign	Het
Depdc5	T	C	5: 33,102,452 (GRCm39)	I986T	probably damaging	Het
Dhx40	A	T	11: 86,662,050 (GRCm39)	I669N	probably damaging	Het
Dnah1	T	A	14: 30,987,970 (GRCm39)	I3483F	probably damaging	Het
Dzip3	C	T	16: 48,748,124 (GRCm39)	G918D	probably benign	Het
Fam185a	T	G	5: 21,660,837 (GRCm39)	V284G	probably damaging	Het
Fhod3	T	C	18: 25,218,651 (GRCm39)	S805P	probably damaging	Het
Filip1l	A	G	16: 57,391,980 (GRCm39)	N856S	probably benign	Het
Gm12887	C	T	4: 121,473,701 (GRCm39)	V50M	probably benign	Het
Gm45785	T	C	7: 140,398,616 (GRCm39)	I94V	unknown	Het
Gm9195	A	G	14: 72,692,038 (GRCm39)	I1616T	unknown	Het
Grm4	T	A	17: 27,653,956 (GRCm39)	I665F	probably benign	Het
Hcls1	C	T	16: 36,777,000 (GRCm39)	A230V	probably benign	Het
Hic1	A	G	11: 75,057,053 (GRCm39)	L612P	possibly damaging	Het
Hmcn1	A	C	1: 150,522,343 (GRCm39)	V3519G	probably benign	Het
Hmgcs1	A	G	13: 120,165,963 (GRCm39)	Y360C	probably benign	Het
Hspa12a	A	T	19: 58,789,292 (GRCm39)	M448K	possibly damaging	Het
Htt	T	G	5: 34,987,171 (GRCm39)	I1130S	probably null	Het
Irx3	A	G	8: 92,527,694 (GRCm39)	Y59H	probably damaging	Het
Klc4	A	G	17: 46,950,361 (GRCm39)	L280P	probably damaging	Het
Lrp1	G	T	10: 127,410,209 (GRCm39)	N1512K	probably damaging	Het
Marco	T	C	1: 120,421,814 (GRCm39)	E130G	probably damaging	Het
Mdga1	G	A	17: 30,057,491 (GRCm39)	T775M	probably damaging	Het
Ms4a18	A	T	19: 10,988,804 (GRCm39)	L184Q	probably damaging	Het
Msi2	A	C	11: 88,608,889 (GRCm39)	S10A	probably benign	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Ngfr	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 95,478,316 (GRCm39)		probably benign	Het
Nradd	A	G	9: 110,451,188 (GRCm39)	L60P	probably damaging	Het
Nup188	A	G	2: 30,188,456 (GRCm39)	Y39C	probably benign	Het
Odf2	G	T	2: 29,816,815 (GRCm39)	G754C	probably benign	Het
Or10a2	A	T	7: 106,673,214 (GRCm39)	M60L	probably damaging	Het
Or12d15	A	G	17: 37,694,183 (GRCm39)	M242V	probably benign	Het
Or13d1	A	G	4: 52,971,419 (GRCm39)	Y266C	possibly damaging	Het
Or4b1	A	G	2: 89,979,522 (GRCm39)	I276T	possibly damaging	Het
Osbpl6	C	T	2: 76,382,468 (GRCm39)	P222S	probably benign	Het
Pcdhga3	T	C	18: 37,809,229 (GRCm39)	Y561H	probably benign	Het
Phykpl	G	A	11: 51,490,375 (GRCm39)	V419I	probably benign	Het
Pskh1	A	G	8: 106,640,142 (GRCm39)	Y274C	possibly damaging	Het
Rap1gap	G	T	4: 137,444,742 (GRCm39)	V219F	probably damaging	Het
Rapgef4	C	A	2: 72,005,212 (GRCm39)	H220N	probably benign	Het
Rcor3	G	T	1: 191,810,181 (GRCm39)	H165Q	possibly damaging	Het
Reg3d	T	C	6: 78,354,422 (GRCm39)	T60A	possibly damaging	Het
Rgs9	T	A	11: 109,116,549 (GRCm39)	D644V	probably damaging	Het
Rhob	T	A	12: 8,549,319 (GRCm39)	H105L	probably benign	Het
Rph3a	T	C	5: 121,101,892 (GRCm39)	K115E	probably damaging	Het
Rsf1	GG	GGGGACGGCCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scn4b	T	A	9: 45,058,013 (GRCm39)	V35E	probably damaging	Het
Serpina3i	T	C	12: 104,231,672 (GRCm39)	I103T	probably damaging	Het
Sidt2	T	C	9: 45,852,658 (GRCm39)	T776A	possibly damaging	Het
Slc15a1	T	C	14: 121,702,389 (GRCm39)	I586V	probably benign	Het
Slc15a5	A	T	6: 137,961,456 (GRCm39)	V213E		Het
Stard13	C	A	5: 151,157,152 (GRCm39)	A10S	probably benign	Het
Taf6	C	A	5: 138,179,221 (GRCm39)	V406F	possibly damaging	Het
Tap2	G	T	17: 34,431,004 (GRCm39)	R368L	possibly damaging	Het
Tmem236	T	C	2: 14,223,889 (GRCm39)	V226A	probably benign	Het
Tmem87a	T	A	2: 120,210,093 (GRCm39)	I287F	possibly damaging	Het
Ttll13	A	T	7: 79,904,428 (GRCm39)	K351I	possibly damaging	Het
Ttn	T	A	2: 76,581,245 (GRCm39)	Y23216F	probably damaging	Het
Vmn2r27	T	C	6: 124,201,244 (GRCm39)	T238A	probably benign	Het
Vmn2r54	T	C	7: 12,366,055 (GRCm39)	Y293C	possibly damaging	Het
Vsig10l	T	C	7: 43,112,948 (GRCm39)	S69P		Het
Wdr83	G	A	8: 85,806,432 (GRCm39)	T122I	probably damaging	Het
Zfp219	A	G	14: 52,246,200 (GRCm39)	V309A	probably damaging	Het
Zfp354a	C	T	11: 50,960,788 (GRCm39)	S332F	probably damaging	Het
Zfp354b	T	C	11: 50,813,887 (GRCm39)	N346S	possibly damaging	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
IGL00938:Ltbp2	APN	12	84,878,573 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- CGTTCCAGGGAGCTAAGAAG -3'
(R):5'- TCTCCAGGGTCTCAGTGTTC -3'

Sequencing Primer
(F):5'- TTCCAGGGAGCTAAGAAGGACATG -3'
(R):5'- CTCAGGTTCCTGGCACTG -3'

Posted On

2022-01-20