Mutagenetix > Incidental Mutations

Incidental Mutation 'R1752:Ltbp3'

193673

Institutional Source

Beutler Lab

Gene Symbol

Ltbp3

Ensembl Gene

ENSMUSG00000024940

Gene Name

latent transforming growth factor beta binding protein 3

Synonyms

Ltbp2

MMRRC Submission

039784-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1752 (G1)

Quality Score

138

Status

Not validated

Chromosome

Chromosomal Location

5740904-5758532 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 5745657 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 180 (H180Q)

Ref Sequence

ENSEMBL: ENSMUSP00000080214 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000081496
AA Change: H180Q

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940
AA Change: H180Q

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

0.0800

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

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 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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 80,006,634	V1134A	probably benign	Het
Accsl	C	T	2: 93,858,030	G420S	probably damaging	Het
Adam29	A	G	8: 55,872,274	S382P	probably damaging	Het
Apob	T	C	12: 7,988,766	L393P	probably benign	Het
Arhgef19	T	G	4: 141,251,043	S616A	probably benign	Het
Atp11a	C	T	8: 12,813,094	T91I	probably damaging	Het
Ccdc88b	C	T	19: 6,853,322	V751I	probably benign	Het
Ccni	T	C	5: 93,202,456		probably benign	Het
Cd2	G	A	3: 101,276,195	A266V	probably benign	Het
Cd33	T	C	7: 43,532,298	D146G	probably benign	Het
Cdh16	A	G	8: 104,619,873		probably null	Het
Chd1	T	C	17: 15,743,232		probably null	Het
Chd5	A	T	4: 152,375,133	I1109F	probably damaging	Het
Cir1	T	C	2: 73,310,538	E29G	probably damaging	Het
Clec5a	T	C	6: 40,582,253	T66A	probably damaging	Het
Cpa2	A	G	6: 30,552,024	D250G	probably damaging	Het
Crybg2	T	A	4: 134,073,650	L707H	probably damaging	Het
Csmd3	T	C	15: 47,660,273	T2646A	probably benign	Het
Cul7	G	A	17: 46,653,167	R390Q	probably benign	Het
Cyp2c69	T	A	19: 39,881,153	I141F	probably damaging	Het
Dapk2	C	G	9: 66,220,643	R68G	probably damaging	Het
Dclk2	C	T	3: 86,806,127	V470I	possibly damaging	Het
Dixdc1	A	G	9: 50,682,550	V530A	probably benign	Het
Dock7	A	G	4: 98,966,444	F1528L	probably damaging	Het
Edn1	T	A	13: 42,303,599	V36E	possibly damaging	Het
Eng	T	C	2: 32,673,392	V319A	probably benign	Het
Epb41l2	A	G	10: 25,460,792	K229E	probably damaging	Het
Fam184a	T	C	10: 53,674,570	N698S	probably benign	Het
Fam208a	T	A	14: 27,471,928	Y1028*	probably null	Het
Fndc7	T	C	3: 108,869,330	N465S	probably benign	Het
Fstl4	T	C	11: 53,186,795	V793A	probably benign	Het
Gm884	T	C	11: 103,614,555	T2196A	possibly damaging	Het
Gm9797	A	T	10: 11,609,543		noncoding transcript	Het
Hsd17b4	T	C	18: 50,170,767	S436P	probably benign	Het
Itsn2	T	G	12: 4,711,950		probably null	Het
Kank3	T	C	17: 33,819,817	V570A	probably damaging	Het
Kif13a	A	T	13: 46,798,409	F733Y	probably damaging	Het
Kif16b	G	T	2: 142,690,666	D1184E	probably benign	Het
Kif20a	A	G	18: 34,631,581	D727G	possibly damaging	Het
Kif20b	T	A	19: 34,938,336	S504R	probably benign	Het
Luzp2	T	C	7: 55,264,340	S306P	possibly damaging	Het
Macf1	T	C	4: 123,483,672	I1490V	possibly damaging	Het
Manba	T	A	3: 135,506,945	W72R	probably damaging	Het
Mast1	A	G	8: 84,925,336	V339A	probably benign	Het
Mnx1	A	G	5: 29,477,729	S183P	unknown	Het
Muc5b	T	G	7: 141,867,751	L4326R	possibly damaging	Het
Myb	T	C	10: 21,156,437	D15G	possibly damaging	Het
Ncapg2	A	T	12: 116,426,718	D429V	probably damaging	Het
Neurod6	A	G	6: 55,679,526	V42A	probably benign	Het
Nfxl1	A	T	5: 72,540,875	C276S	probably damaging	Het
Nptx2	C	A	5: 144,555,361	T316N	probably damaging	Het
Nrp2	T	A	1: 62,738,441	F135Y	probably damaging	Het
Nxpe3	A	T	16: 55,866,474	F57Y	probably benign	Het
Olfr1214	C	A	2: 88,987,315	A296S	possibly damaging	Het
Olfr610	T	A	7: 103,506,558	R129S	probably benign	Het
Osbpl11	T	C	16: 33,204,835	Y144H	probably damaging	Het
Pax5	T	C	4: 44,609,729	Y233C	probably damaging	Het
Pck1	A	G	2: 173,157,113	N388S	probably benign	Het
Plcd3	T	A	11: 103,080,259	Q157L	probably benign	Het
Pnma2	A	C	14: 66,916,336	M70L	probably benign	Het
Pogk	T	C	1: 166,408,428	K35E	probably damaging	Het
Ptprb	T	A	10: 116,340,990	V1227E	probably benign	Het
Pygm	T	A	19: 6,391,034	V450E	probably damaging	Het
Rb1	T	A	14: 73,287,624	I190F	probably damaging	Het
Setd2	T	A	9: 110,594,605	Y2243N	probably damaging	Het
Slc11a2	A	T	15: 100,405,806	L182Q	probably damaging	Het
Slc45a3	T	C	1: 131,977,521	L94P	probably damaging	Het
Slc9a4	T	C	1: 40,629,261	F688S	probably benign	Het
Slit3	A	T	11: 35,564,653	I196F	probably damaging	Het
Sprn	G	A	7: 140,153,495		probably benign	Het
Spsb2	A	G	6: 124,810,329	D242G	probably benign	Het
Srpk2	A	G	5: 23,528,019	I111T	probably damaging	Het
St8sia4	T	A	1: 95,591,812	Y317F	probably benign	Het
Stat5a	T	A	11: 100,884,058	*798K	probably null	Het
Sult1c1	C	T	17: 53,964,749	V137M	possibly damaging	Het
Synj1	T	C	16: 90,938,473	T1531A	probably benign	Het
Tax1bp1	A	G	6: 52,721,413	T37A	probably damaging	Het
Tet1	T	A	10: 62,812,989	D1888V	probably damaging	Het
Tln1	T	C	4: 43,536,311	T1994A	probably damaging	Het
Tmco3	A	C	8: 13,291,741	D5A	probably benign	Het
Tnk1	T	A	11: 69,856,706	N74I	possibly damaging	Het
Ttc16	A	T	2: 32,772,150	S120T	probably damaging	Het
Ttn	A	G	2: 76,764,262	V20480A	probably damaging	Het
Ttn	T	A	2: 76,944,104	T2153S	probably damaging	Het
Usp4	T	C	9: 108,374,242	Y539H	probably damaging	Het
Zar1	A	C	5: 72,577,372	V168G	probably damaging	Het
Zcchc9	T	C	13: 91,805,780	K119E	possibly damaging	Het
Zfp251	T	C	15: 76,853,663	N410S	possibly damaging	Het
Zfp605	A	T	5: 110,123,773	D10V	probably damaging	Het
Zyg11a	A	T	4: 108,205,282	N107K	possibly damaging	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
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
R2239:Ltbp3	UTSW	19	5751523	nonsense	probably null
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
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'- CTAATGGGAAGTCCACACAGTGAGC -3'
(R):5'- TTGGGCAATGTGTCCTGGAAGC -3'

Sequencing Primer
(F):5'- GCTCTTCCCGAAACCAGTG -3'
(R):5'- GATGGACACGCACGTTCAC -3'

Posted On

2014-05-23