Mutagenetix > Incidental Mutations

Incidental Mutation 'R6321:Ltbp3'

510373

Institutional Source

Beutler Lab

Gene Symbol

Ltbp3

Ensembl Gene

ENSMUSG00000024940

Gene Name

latent transforming growth factor beta binding protein 3

Synonyms

Ltbp2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R6321 (G1)

Quality Score

225.009

Status

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	C	7: 131,257,006		probably null	Het
Actbl2	G	T	13: 111,255,381	M83I	probably damaging	Het
Adgra2	T	A	8: 27,114,162	M460K	probably benign	Het
Aldh16a1	G	A	7: 45,149,765	A31V	probably damaging	Het
Ank2	T	C	3: 126,946,938		probably benign	Het
Arrdc4	C	A	7: 68,749,045	D8Y	probably benign	Het
Auts2	A	G	5: 131,466,115	Y110H	probably damaging	Het
Blnk	A	T	19: 40,934,459	Y405N	probably damaging	Het
Capsl	T	C	15: 9,461,769	F84L	probably damaging	Het
Cenpl	T	C	1: 161,074,895	S46P	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Chrnd	C	T	1: 87,192,229	R90C	probably damaging	Het
Cyfip2	A	T	11: 46,291,520	M37K	probably benign	Het
Dnah11	T	C	12: 118,142,292	E625G	possibly damaging	Het
Dnah5	T	G	15: 28,372,411	V2936G	probably damaging	Het
Dock9	A	G	14: 121,546,021	M2055T	probably damaging	Het
Epb41l2	A	T	10: 25,468,128	R274S	probably damaging	Het
Erich3	A	T	3: 154,727,502	H371L	probably damaging	Het
Evi5l	C	A	8: 4,203,080	P454T	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Golgb1	T	A	16: 36,918,197	C2299*	probably null	Het
Heca	G	C	10: 17,915,243		probably null	Het
Hecw1	C	T	13: 14,522,829	A9T	probably benign	Het
Hs3st6	T	A	17: 24,758,568	W341R	probably damaging	Het
Kidins220	C	T	12: 25,057,534	S1571L	probably benign	Het
Klk9	A	G	7: 43,794,308	E82G	probably damaging	Het
Mecom	A	G	3: 29,980,592	Y502H	probably damaging	Het
Mfsd2a	A	G	4: 122,949,372	V372A	probably benign	Het
Mrgprd	A	G	7: 145,322,142	D250G	probably benign	Het
Muc2	A	G	7: 141,700,828	D191G	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naip6	C	A	13: 100,300,401	S538I	probably benign	Het
Olfr1312	A	G	2: 112,042,768	V88A	probably benign	Het
Olfr692	A	G	7: 105,368,902	Y192C	probably damaging	Het
Pnpla6	T	C	8: 3,544,015	V1342A	probably benign	Het
Ppp1r9a	A	G	6: 5,115,151	E789G	probably damaging	Het
Prkdc	A	G	16: 15,714,919	T1471A	probably benign	Het
Scarb1	T	A	5: 125,304,331	S50C	probably damaging	Het
Slc4a8	C	T	15: 100,789,164	T283M	probably damaging	Het
Smc2	C	A	4: 52,462,814	D601E	probably benign	Het
Snx6	C	A	12: 54,752,013	V221F	probably damaging	Het
Spag17	A	C	3: 100,088,427	K1794T	probably benign	Het
Tpo	A	G	12: 30,103,108	W416R	probably damaging	Het
Ttc13	C	A	8: 124,683,191	K427N	probably damaging	Het
Upf3a	A	T	8: 13,787,466	N137I	possibly damaging	Het
Ush2a	C	T	1: 188,849,046	Q3708*	probably null	Het
Zbtb17	G	A	4: 141,463,383	G171S	probably benign	Het
Zfp451	A	G	1: 33,813,735	F33L	probably damaging	Het
Zfp454	A	G	11: 50,873,049	F408L	probably damaging	Het
Zfp639	T	C	3: 32,517,088	Y40H	probably 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
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
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	intron	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
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
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'- TCAGGTTCCCAATAAGAGCAGAG -3'
(R):5'- AATCCGACCACCCTTATTGC -3'

Sequencing Primer
(F):5'- AGTGCTCTTCCCGAAACCAGTG -3'
(R):5'- ATTGCCCGCCCGTTTAAG -3'

Posted On

2018-04-02