Mutagenetix > Incidental Mutation

Incidental Mutation 'R9457:Ltbp2'

714673

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 #

R9457 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84829986-84923306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84835927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1335 (C1335S)

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 damaging
Transcript: ENSMUST00000002073
AA Change: C1358S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002073
Gene: ENSMUSG00000002020
AA Change: C1358S

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: C1335S

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105883
Gene: ENSMUSG00000002020
AA Change: C1335S

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: C1315S

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127693
Gene: ENSMUSG00000002020
AA Change: C1315S

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

SMART Domains

Protein: ENSMUSP00000132067
Gene: ENSMUSG00000002020
AA Change: C157S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	T	C	10: 115,414,236 (GRCm39)	L54P	unknown	Het
Ablim3	A	G	18: 61,978,920 (GRCm39)	S204P	probably benign	Het
Acadl	A	G	1: 66,892,400 (GRCm39)	V141A	probably benign	Het
Ace3	A	G	11: 105,885,687 (GRCm39)	D31G	probably benign	Het
Acte1	T	C	7: 143,437,713 (GRCm39)	V137A	possibly damaging	Het
Adam11	T	G	11: 102,660,724 (GRCm39)	V85G	probably benign	Het
Adarb1	A	T	10: 77,157,982 (GRCm39)	M155K	possibly damaging	Het
Arhgap10	G	A	8: 78,111,415 (GRCm39)	T376M	probably benign	Het
Bod1l	G	T	5: 41,979,310 (GRCm39)	T668K	probably damaging	Het
Ccdc87	A	G	19: 4,891,659 (GRCm39)	E717G	probably damaging	Het
Cdh17	T	A	4: 11,771,329 (GRCm39)	I37N	probably damaging	Het
Cfap99	T	G	5: 34,458,741 (GRCm39)	F45L	probably benign	Het
Chsy1	C	A	7: 65,822,148 (GRCm39)	H794Q	probably benign	Het
Clec4a3	G	A	6: 122,931,045 (GRCm39)	V45I	probably benign	Het
Clic3	G	A	2: 25,347,730 (GRCm39)	V32I	probably benign	Het
Clip2	A	T	5: 134,531,584 (GRCm39)	D740E	probably benign	Het
Col5a2	C	T	1: 45,426,004 (GRCm39)	V1062I	probably benign	Het
Col5a2	A	G	1: 45,431,973 (GRCm39)		probably null	Het
Cyp2j11	C	T	4: 96,195,596 (GRCm39)	V367I	probably damaging	Het
Ddr1	C	T	17: 35,993,650 (GRCm39)	A821T	possibly damaging	Het
Dna2	G	A	10: 62,786,572 (GRCm39)	E107K	probably benign	Het
Eif3d	A	G	15: 77,843,894 (GRCm39)	V484A	probably benign	Het
Fgfr4	A	G	13: 55,308,940 (GRCm39)	T354A	probably benign	Het
Fkbp6	T	C	5: 135,378,486 (GRCm39)	D54G	probably benign	Het
Gm4787	T	A	12: 81,426,020 (GRCm39)	E46V	probably damaging	Het
Gm47995	A	G	1: 151,074,226 (GRCm39)	T10A	possibly damaging	Het
Gnb1l	T	A	16: 18,359,745 (GRCm39)	I50N	probably damaging	Het
Gphb5	A	T	12: 75,462,523 (GRCm39)	V22D	probably damaging	Het
Gstt4	C	T	10: 75,650,959 (GRCm39)	C221Y	probably benign	Het
Hmces	T	C	6: 87,910,256 (GRCm39)	V222A	possibly damaging	Het
Kat14	T	A	2: 144,215,702 (GRCm39)	D62E	probably benign	Het
Kcnmb2	T	A	3: 32,236,018 (GRCm39)	V89E	probably benign	Het
Kif23	T	A	9: 61,851,507 (GRCm39)	N63I	probably benign	Het
Lamc2	T	C	1: 153,015,600 (GRCm39)	M578V	probably benign	Het
Lyst	A	G	13: 13,862,330 (GRCm39)	E2622G	possibly damaging	Het
Mctp1	A	T	13: 76,532,793 (GRCm39)	H47L	probably benign	Het
Mical2	A	G	7: 112,010,665 (GRCm39)	K618R	probably damaging	Het
Mllt6	T	C	11: 97,556,586 (GRCm39)	I92T	probably benign	Het
Morc2a	A	G	11: 3,626,184 (GRCm39)	I223V	probably benign	Het
Msh3	A	T	13: 92,481,594 (GRCm39)	I306N	probably benign	Het
Myo3b	T	A	2: 69,925,553 (GRCm39)	S35T	probably benign	Het
Nfkbiz	A	T	16: 55,634,347 (GRCm39)	V700E	probably damaging	Het
Oit3	T	A	10: 59,277,505 (GRCm39)	M1L	unknown	Het
Or4c1	A	T	2: 89,133,075 (GRCm39)	I287N	probably damaging	Het
Or51l14	T	A	7: 103,100,618 (GRCm39)	F25I	probably benign	Het
Or8k17	A	T	2: 86,066,816 (GRCm39)	I114K	probably damaging	Het
Peg3	T	G	7: 6,710,998 (GRCm39)	D1408A	probably damaging	Het
Plaa	A	C	4: 94,475,120 (GRCm39)	S201R	possibly damaging	Het
Potefam1	A	T	2: 111,000,631 (GRCm39)	M196K	unknown	Het
Psmd5	A	G	2: 34,744,338 (GRCm39)	S395P	probably benign	Het
Ralgapa2	T	C	2: 146,176,474 (GRCm39)	I1701V	probably damaging	Het
Rmc1	A	G	18: 12,312,303 (GRCm39)	H181R	probably benign	Het
Rnf32	G	A	5: 29,411,184 (GRCm39)	A157T	probably damaging	Het
Rrad	T	A	8: 105,356,359 (GRCm39)		probably null	Het
Samm50	T	A	15: 84,092,042 (GRCm39)	L339Q	probably damaging	Het
Scin	T	C	12: 40,154,957 (GRCm39)	E212G	possibly damaging	Het
Scrib	T	C	15: 75,939,148 (GRCm39)	D146G	probably damaging	Het
Slc19a1	G	A	10: 76,885,605 (GRCm39)	D502N	probably benign	Het
Slc4a4	T	C	5: 89,362,432 (GRCm39)	S839P	probably damaging	Het
Slc4a8	A	G	15: 100,704,141 (GRCm39)	D764G	probably damaging	Het
Slc6a19	G	A	13: 73,829,884 (GRCm39)	A590V	probably damaging	Het
Slfn8	G	T	11: 82,908,532 (GRCm39)	H4N	probably benign	Het
Smad9	T	A	3: 54,696,756 (GRCm39)	F274I	possibly damaging	Het
Snx4	A	G	16: 33,106,380 (GRCm39)	E271G	probably benign	Het
Spata31h1	A	G	10: 82,122,573 (GRCm39)	V3479A	probably benign	Het
Tektip1	C	A	10: 81,201,611 (GRCm39)	V4L	probably benign	Het
Thap4	G	A	1: 93,678,028 (GRCm39)	R253*	probably null	Het
Tmem65	T	A	15: 58,662,028 (GRCm39)	I144F		Het
Tnrc6a	G	A	7: 122,778,958 (GRCm39)	R1223Q	probably benign	Het
Traf7	CA	CAA	17: 24,746,737 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,747,226 (GRCm39)	Y1424C	possibly damaging	Het
Trrap	T	A	5: 144,763,478 (GRCm39)	Y2457N	probably damaging	Het
Vmn1r7	A	G	6: 57,001,508 (GRCm39)	S251P	probably damaging	Het
Vmn2r89	A	T	14: 51,693,469 (GRCm39)	E273V	probably damaging	Het
Vps52	A	G	17: 34,181,156 (GRCm39)	D466G	probably damaging	Het
Xirp2	T	C	2: 67,345,976 (GRCm39)	V2739A	probably benign	Het
Zc3h4	C	T	7: 16,168,675 (GRCm39)	S1003F	unknown	Het
Zyg11a	A	T	4: 108,075,102 (GRCm39)	H6Q	probably 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
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
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'- ACTGGCCCACTGAACTCTAC -3'
(R):5'- AGAGCTTGTGGACACGAGAC -3'

Sequencing Primer
(F):5'- CTGAACTCTACTAAGTAGCTGGAGC -3'
(R):5'- CTTGTGGACACGAGACACCAG -3'

Posted On

2022-06-15