Mutagenetix > Incidental Mutation

Incidental Mutation 'R1299:Ltbp3'

158266

Institutional Source

Beutler Lab

Gene Symbol

Ltbp3

Ensembl Gene

ENSMUSG00000024940

Gene Name

latent transforming growth factor beta binding protein 3

Synonyms

Ltbp2

MMRRC Submission

039365-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R1299 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5790932-5808560 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 5795456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000080214 (fasta)

Gene Model

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

AlphaFold

Q61810

Predicted Effect

probably benign
Transcript: ENSMUST00000081496

SMART Domains

Protein: ENSMUSP00000080214
Gene: ENSMUSG00000024940

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (38/38)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,244,821 (GRCm39)	L2228P	possibly damaging	Het
Acnat1	T	A	4: 49,450,925 (GRCm39)	E62V	possibly damaging	Het
Adam7	A	G	14: 68,763,748 (GRCm39)		probably benign	Het
Ate1	A	T	7: 130,106,485 (GRCm39)	V292D	probably damaging	Het
Cbx8	T	C	11: 118,931,676 (GRCm39)	M1V	probably null	Het
Cdc73	T	C	1: 143,575,019 (GRCm39)	D58G	probably benign	Het
Cgnl1	G	A	9: 71,628,994 (GRCm39)		probably benign	Het
Col27a1	G	A	4: 63,183,868 (GRCm39)		probably benign	Het
Fam133b	T	C	5: 3,604,626 (GRCm39)		probably benign	Het
Fndc3a	A	G	14: 72,803,638 (GRCm39)		probably benign	Het
Golga3	G	A	5: 110,352,709 (GRCm39)	A867T	probably benign	Het
Gpr142	A	T	11: 114,695,185 (GRCm39)	Y50F	probably benign	Het
Gramd1c	A	G	16: 43,803,865 (GRCm39)		probably benign	Het
Gypa	G	A	8: 81,223,382 (GRCm39)	V53I	unknown	Het
H2-DMb2	T	C	17: 34,369,561 (GRCm39)	V235A	probably benign	Het
Igkv10-94	T	C	6: 68,681,482 (GRCm39)		probably benign	Het
Katnip	A	C	7: 125,451,195 (GRCm39)	M1109L	probably benign	Het
Klhl17	T	C	4: 156,315,419 (GRCm39)	Y484C	probably damaging	Het
Mapkbp1	G	A	2: 119,845,885 (GRCm39)	C412Y	probably damaging	Het
Mblac2	C	A	13: 81,859,845 (GRCm39)	C65*	probably null	Het
Or5b104	T	A	19: 13,072,494 (GRCm39)	N173Y	possibly damaging	Het
Or6c217	A	G	10: 129,737,946 (GRCm39)	I211T	probably benign	Het
Parn	G	A	16: 13,482,593 (GRCm39)	T85M	probably benign	Het
Pcdhb22	T	C	18: 37,653,643 (GRCm39)	S704P	probably damaging	Het
Prex1	A	G	2: 166,427,827 (GRCm39)	F942L	possibly damaging	Het
Prox1	G	T	1: 189,879,140 (GRCm39)		probably benign	Het
Prss55	A	T	14: 64,319,147 (GRCm39)	I70N	probably damaging	Het
Slc25a13	C	T	6: 6,113,937 (GRCm39)		probably null	Het
Smarca2	T	C	19: 26,749,011 (GRCm39)		probably null	Het
Smarcc2	C	A	10: 128,297,247 (GRCm39)	N46K	probably damaging	Het
Tdpoz4	A	T	3: 93,703,769 (GRCm39)	Y22F	probably benign	Het
Tgfbr1	T	A	4: 47,396,587 (GRCm39)		probably null	Het
Xpr1	A	C	1: 155,292,949 (GRCm39)	I11S	probably damaging	Het
Zfp354b	A	C	11: 50,814,297 (GRCm39)	S209R	probably benign	Het
Zfp882	A	G	8: 72,667,317 (GRCm39)	E88G	probably damaging	Het

Other mutations in Ltbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Ltbp3	APN	19	5,806,044 (GRCm39)	missense	probably damaging	0.99
IGL00978:Ltbp3	APN	19	5,804,047 (GRCm39)	missense	probably benign	0.26
IGL01517:Ltbp3	APN	19	5,807,760 (GRCm39)	missense	possibly damaging	0.57
IGL01529:Ltbp3	APN	19	5,797,867 (GRCm39)	missense	probably benign	0.06
IGL03119:Ltbp3	APN	19	5,807,471 (GRCm39)	missense	probably damaging	0.98
abner	UTSW	19	5,795,685 (GRCm39)	missense	probably benign	0.09
csp	UTSW	19	5,797,716 (GRCm39)	missense	probably damaging	1.00
lilia	UTSW	19	5,797,885 (GRCm39)	critical splice donor site	probably null
Rapunzel	UTSW	19	5,803,970 (GRCm39)	nonsense	probably null
PIT4305001:Ltbp3	UTSW	19	5,802,095 (GRCm39)	missense	probably damaging	0.99
PIT4453001:Ltbp3	UTSW	19	5,807,822 (GRCm39)	missense	probably damaging	0.97
PIT4480001:Ltbp3	UTSW	19	5,801,254 (GRCm39)	missense	possibly damaging	0.73
R0211:Ltbp3	UTSW	19	5,802,171 (GRCm39)	critical splice donor site	probably null
R0718:Ltbp3	UTSW	19	5,796,776 (GRCm39)	splice site	probably benign
R1103:Ltbp3	UTSW	19	5,797,440 (GRCm39)	critical splice acceptor site	probably null
R1103:Ltbp3	UTSW	19	5,797,439 (GRCm39)	critical splice acceptor site	probably null
R1510:Ltbp3	UTSW	19	5,798,915 (GRCm39)	missense	probably benign	0.02
R1616:Ltbp3	UTSW	19	5,796,995 (GRCm39)	missense	probably damaging	1.00
R1682:Ltbp3	UTSW	19	5,801,782 (GRCm39)	missense	probably benign	0.02
R1752:Ltbp3	UTSW	19	5,795,685 (GRCm39)	missense	probably benign	0.09
R1806:Ltbp3	UTSW	19	5,803,970 (GRCm39)	nonsense	probably null
R1866:Ltbp3	UTSW	19	5,797,877 (GRCm39)	missense	probably benign	0.43
R1981:Ltbp3	UTSW	19	5,808,107 (GRCm39)	missense	probably benign	0.15
R2211:Ltbp3	UTSW	19	5,803,990 (GRCm39)	missense	possibly damaging	0.79
R2239:Ltbp3	UTSW	19	5,801,551 (GRCm39)	nonsense	probably null
R2261:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R2263:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R2380:Ltbp3	UTSW	19	5,801,551 (GRCm39)	nonsense	probably null
R2412:Ltbp3	UTSW	19	5,796,673 (GRCm39)	missense	probably benign	0.08
R2446:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R2449:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R3056:Ltbp3	UTSW	19	5,801,434 (GRCm39)	missense	probably benign	0.11
R3080:Ltbp3	UTSW	19	5,806,916 (GRCm39)	frame shift	probably null
R3863:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R3864:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R3951:Ltbp3	UTSW	19	5,806,029 (GRCm39)	missense	probably damaging	1.00
R3961:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R3962:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R3963:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R3972:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R4028:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R4031:Ltbp3	UTSW	19	5,804,050 (GRCm39)	missense	probably benign	0.02
R4041:Ltbp3	UTSW	19	5,801,899 (GRCm39)	missense	possibly damaging	0.95
R4060:Ltbp3	UTSW	19	5,792,348 (GRCm39)	missense	probably benign	0.41
R4296:Ltbp3	UTSW	19	5,806,610 (GRCm39)	critical splice acceptor site	probably null
R4525:Ltbp3	UTSW	19	5,796,387 (GRCm39)	missense	probably benign	0.09
R4660:Ltbp3	UTSW	19	5,798,814 (GRCm39)	splice site	probably null
R4794:Ltbp3	UTSW	19	5,806,707 (GRCm39)	missense	probably damaging	1.00
R4980:Ltbp3	UTSW	19	5,803,955 (GRCm39)	critical splice acceptor site	probably null
R5071:Ltbp3	UTSW	19	5,806,851 (GRCm39)	missense	probably damaging	1.00
R5702:Ltbp3	UTSW	19	5,797,849 (GRCm39)	missense	probably benign
R5771:Ltbp3	UTSW	19	5,797,572 (GRCm39)	missense	probably damaging	1.00
R6021:Ltbp3	UTSW	19	5,803,708 (GRCm39)	missense	probably benign	0.00
R6053:Ltbp3	UTSW	19	5,802,122 (GRCm39)	missense	probably damaging	0.98
R6321:Ltbp3	UTSW	19	5,795,685 (GRCm39)	missense	probably benign	0.09
R6339:Ltbp3	UTSW	19	5,797,505 (GRCm39)	missense	probably damaging	1.00
R6371:Ltbp3	UTSW	19	5,795,800 (GRCm39)	splice site	probably null
R6709:Ltbp3	UTSW	19	5,797,885 (GRCm39)	critical splice donor site	probably null
R7666:Ltbp3	UTSW	19	5,797,034 (GRCm39)	missense	possibly damaging	0.79
R8499:Ltbp3	UTSW	19	5,798,712 (GRCm39)	missense	probably benign	0.01
R8937:Ltbp3	UTSW	19	5,797,512 (GRCm39)	missense	probably benign	0.09
R9362:Ltbp3	UTSW	19	5,803,697 (GRCm39)	missense	probably benign	0.01
R9645:Ltbp3	UTSW	19	5,802,099 (GRCm39)	missense	probably damaging	1.00
R9697:Ltbp3	UTSW	19	5,792,521 (GRCm39)	missense	probably benign	0.00
R9774:Ltbp3	UTSW	19	5,804,014 (GRCm39)	missense	probably benign	0.08
X0066:Ltbp3	UTSW	19	5,801,305 (GRCm39)	missense	probably benign	0.01
Z1177:Ltbp3	UTSW	19	5,797,758 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTTTCGGGGACCTACAGAAGGC -3'
(R):5'- ATCACCTGCACCGCGTAAATGG -3'

Sequencing Primer
(F):5'- ATGGGAAGTCCACACAGTGA -3'
(R):5'- ACTCTCCTTCTGGGGCAAG -3'

Posted On

2014-02-18