Mutagenetix > Incidental Mutations

Incidental Mutation 'R2239:Ltbp3'

240578

Institutional Source

Beutler Lab

Gene Symbol

Ltbp3

Ensembl Gene

ENSMUSG00000024940

Gene Name

latent transforming growth factor beta binding protein 3

Synonyms

Ltbp2

MMRRC Submission

040239-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R2239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5740904-5758532 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 5751523 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 698 (C698*)

Ref Sequence

ENSEMBL: ENSMUSP00000080214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081496]

Predicted Effect

probably null
Transcript: ENSMUST00000081496
AA Change: C698*

SMART Domains

Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: C698*

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
EGF	109	138	6.76e-3	SMART
low complexity region	140	154	N/A	INTRINSIC
low complexity region	191	199	N/A	INTRINSIC
low complexity region	221	233	N/A	INTRINSIC
low complexity region	254	273	N/A	INTRINSIC
Pfam:TB	286	323	8e-9	PFAM
EGF_CA	352	392	2.08e-12	SMART
Pfam:TB	411	451	4.8e-18	PFAM
low complexity region	526	537	N/A	INTRINSIC
EGF_CA	571	612	8.71e-6	SMART
EGF_CA	613	656	2.8e-9	SMART
EGF_CA	657	699	2.48e-10	SMART
EGF_CA	700	740	4.96e-10	SMART
EGF_CA	741	781	1.69e-12	SMART
EGF_CA	782	822	1.94e-12	SMART
EGF_CA	823	862	3.27e-10	SMART
EGF_CA	863	905	3.32e-11	SMART
Pfam:TB	925	967	5.7e-16	PFAM
EGF_CA	990	1032	4.49e-8	SMART
EGF_CA	1033	1073	3.17e-8	SMART
Pfam:TB	1097	1134	1.2e-11	PFAM
EGF	1170	1203	1.53e1	SMART
EGF_CA	1204	1248	1.53e-10	SMART

Meta Mutation Damage Score

0.9711

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

94% (68/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit craniofacial malformations including an overshot mandible and ossification of synchondroses. Mutants develop osteosclerosis of long bones and osteoarthritis, and, in some cases, high corticosterone levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 24,646,287	E406G	probably benign	Het
Ago3	G	A	4: 126,368,522	R412C	probably damaging	Het
Arhgap36	G	T	X: 49,493,405	V60L	possibly damaging	Het
Arl10	G	T	13: 54,575,149	V19L	probably benign	Het
Aspm	T	A	1: 139,456,846	I127K	possibly damaging	Het
Atp8b3	A	G	10: 80,530,988	C259R	probably damaging	Het
Camk2g	A	G	14: 20,739,387	I205T	probably damaging	Het
Ccdc47	G	T	11: 106,202,134	N100K	possibly damaging	Het
Cd200r4	T	A	16: 44,820,897	M1K	probably null	Het
Cdc37	G	A	9: 21,142,533	Q176*	probably null	Het
Cdh5	C	A	8: 104,125,672	H140N	possibly damaging	Het
Cep128	T	C	12: 91,347,567	T146A	probably benign	Het
Cnnm4	T	A	1: 36,505,678	S673T	probably benign	Het
Cnot1	T	C	8: 95,769,521	I342V	probably benign	Het
Cog8	C	A	8: 107,056,361	G99W	probably damaging	Het
Dars2	T	C	1: 161,063,282	T120A	possibly damaging	Het
Dnah7b	C	A	1: 46,201,184		probably benign	Het
Emilin2	T	A	17: 71,310,224	Q64L	probably benign	Het
Eomes	A	G	9: 118,482,291	D394G	probably damaging	Het
Epn1	A	G	7: 5,097,602	N518S	probably damaging	Het
Exoc1	T	C	5: 76,559,710		probably benign	Het
Fam186a	C	T	15: 99,954,864	V158M	unknown	Het
Fryl	A	G	5: 73,108,547	L477P	probably damaging	Het
Gbf1	T	C	19: 46,163,618	I30T	probably benign	Het
Gm7534	A	C	4: 134,202,205	M263R	unknown	Het
Gm7714	T	G	5: 88,282,554	M103R	probably benign	Het
Hsd17b1	A	T	11: 101,078,463	I8F	probably damaging	Het
Htatsf1	G	T	X: 57,066,504	D642Y	unknown	Het
Ift88	A	G	14: 57,455,504	I387V	probably damaging	Het
Kcnh5	T	A	12: 75,007,719	M484L	probably benign	Het
Kdm1b	T	A	13: 47,073,755	F574L	probably damaging	Het
Kdm6a	T	C	X: 18,199,237	F104S	probably damaging	Het
Kntc1	T	C	5: 123,803,670	V1809A	possibly damaging	Het
Lgr4	T	C	2: 110,012,393	Y908H	probably damaging	Het
Map3k1	A	C	13: 111,748,944	S1480A	probably benign	Het
Map7	A	T	10: 20,278,282	N715Y	unknown	Het
Morn4	A	G	19: 42,078,032	Y39H	possibly damaging	Het
Myh14	A	T	7: 44,665,183	D105E	probably damaging	Het
Nfasc	T	C	1: 132,583,022		probably benign	Het
Nfe2l2	G	A	2: 75,676,554	P401S	probably benign	Het
Nt5c1b	C	A	12: 10,375,558	T309K	probably damaging	Het
Olfr1156	T	C	2: 87,949,397	T279A	probably damaging	Het
Olfr1417	T	C	19: 11,828,450	D192G	probably damaging	Het
Olfr1463	T	C	19: 13,234,721	V157A	probably benign	Het
Olfr205	T	A	16: 59,329,375	I45F	probably damaging	Het
Olfr223	A	G	11: 59,589,271	S273P	possibly damaging	Het
P4hb	A	G	11: 120,563,282	Y329H	probably damaging	Het
Papolg	A	G	11: 23,876,378	Y259H	probably damaging	Het
Pcgf5	A	T	19: 36,437,354	N105I	probably damaging	Het
Pde4a	G	A	9: 21,211,268	C820Y	probably damaging	Het
Phka2	A	G	X: 160,541,412	E254G	probably damaging	Het
Phrf1	A	G	7: 141,237,692	E138G	probably damaging	Het
Rgs3	A	T	4: 62,625,887	T299S	probably benign	Het
Skint5	G	A	4: 113,546,536	T1163I	unknown	Het
Slc16a8	T	C	15: 79,252,947	M88V	probably damaging	Het
Slc35f4	A	G	14: 49,306,203		probably null	Het
Spata4	A	C	8: 54,602,629	K185T	probably benign	Het
Spin2c	A	G	X: 153,833,676	I162V	probably damaging	Het
Stac	G	A	9: 111,690,122		probably benign	Het
Tet1	T	C	10: 62,879,734	D94G	probably benign	Het
Tnfsf11	A	T	14: 78,299,981	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,771,147	T984I	probably benign	Het
Trmt5	A	G	12: 73,285,114	I4T	probably benign	Het
Ttc7b	A	G	12: 100,355,001		probably null	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	A	1: 188,576,214	T2020K	probably benign	Het
Zan	G	A	5: 137,457,837	Q1354*	probably null	Het

Other mutations in Ltbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Ltbp3	APN	19	5756016	missense	probably damaging	0.99
IGL00978:Ltbp3	APN	19	5754019	missense	probably benign	0.26
IGL01517:Ltbp3	APN	19	5757732	missense	possibly damaging	0.57
IGL01529:Ltbp3	APN	19	5747839	missense	probably benign	0.06
IGL03119:Ltbp3	APN	19	5757443	missense	probably damaging	0.98
csp	UTSW	19	5747688	missense	probably damaging	1.00
lilia	UTSW	19	5747857	critical splice donor site	probably null
Rapunzel	UTSW	19	5753942	nonsense	probably null
PIT4305001:Ltbp3	UTSW	19	5752067	missense	probably damaging	0.99
PIT4453001:Ltbp3	UTSW	19	5757794	missense	probably damaging	0.97
PIT4480001:Ltbp3	UTSW	19	5751226	missense	possibly damaging	0.73
R0211:Ltbp3	UTSW	19	5752143	critical splice donor site	probably null
R0718:Ltbp3	UTSW	19	5746748	splice site	probably benign
R1103:Ltbp3	UTSW	19	5747411	critical splice acceptor site	probably null
R1103:Ltbp3	UTSW	19	5747412	critical splice acceptor site	probably null
R1299:Ltbp3	UTSW	19	5745428	splice site	probably benign
R1510:Ltbp3	UTSW	19	5748887	missense	probably benign	0.02
R1616:Ltbp3	UTSW	19	5746967	missense	probably damaging	1.00
R1682:Ltbp3	UTSW	19	5751754	missense	probably benign	0.02
R1752:Ltbp3	UTSW	19	5745657	missense	probably benign	0.09
R1806:Ltbp3	UTSW	19	5753942	nonsense	probably null
R1866:Ltbp3	UTSW	19	5747849	missense	probably benign	0.43
R1981:Ltbp3	UTSW	19	5758079	missense	probably benign	0.15
R2211:Ltbp3	UTSW	19	5753962	missense	possibly damaging	0.79
R2261:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R2263:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R2380:Ltbp3	UTSW	19	5751523	nonsense	probably null
R2412:Ltbp3	UTSW	19	5746645	missense	probably benign	0.08
R2446:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R2449:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R3056:Ltbp3	UTSW	19	5751406	missense	probably benign	0.11
R3080:Ltbp3	UTSW	19	5756888	frame shift	probably null
R3863:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R3864:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R3951:Ltbp3	UTSW	19	5756001	missense	probably damaging	1.00
R3961:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R3962:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R3963:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R3972:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R4028:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R4031:Ltbp3	UTSW	19	5754022	missense	probably benign	0.02
R4041:Ltbp3	UTSW	19	5751871	missense	possibly damaging	0.95
R4060:Ltbp3	UTSW	19	5742320	missense	probably benign	0.41
R4296:Ltbp3	UTSW	19	5756582	critical splice acceptor site	probably null
R4525:Ltbp3	UTSW	19	5746359	missense	probably benign	0.09
R4660:Ltbp3	UTSW	19	5748786	splice site	probably null
R4794:Ltbp3	UTSW	19	5756679	missense	probably damaging	1.00
R4980:Ltbp3	UTSW	19	5753927	critical splice acceptor site	probably null
R5071:Ltbp3	UTSW	19	5756823	missense	probably damaging	1.00
R5702:Ltbp3	UTSW	19	5747821	missense	probably benign
R5771:Ltbp3	UTSW	19	5747544	missense	probably damaging	1.00
R6021:Ltbp3	UTSW	19	5753680	missense	probably benign	0.00
R6053:Ltbp3	UTSW	19	5752094	missense	probably damaging	0.98
R6321:Ltbp3	UTSW	19	5745657	missense	probably benign	0.09
R6339:Ltbp3	UTSW	19	5747477	missense	probably damaging	1.00
R6371:Ltbp3	UTSW	19	5745772	splice site	probably null
R6709:Ltbp3	UTSW	19	5747857	critical splice donor site	probably null
R7666:Ltbp3	UTSW	19	5747006	missense	possibly damaging	0.79
R8499:Ltbp3	UTSW	19	5748684	missense	probably benign	0.01
X0066:Ltbp3	UTSW	19	5751277	missense	probably benign	0.01
Z1177:Ltbp3	UTSW	19	5747730	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTAACCCGGGTATACTG -3'
(R):5'- TCTGGGGTCAACATAGCTGGTC -3'

Sequencing Primer
(F):5'- CGGGTATACTGGGTGGGACC -3'
(R):5'- TCAACATAGCTGGTCCGATG -3'

Posted On

2014-10-15