Mutagenetix > Incidental Mutation

Incidental Mutation 'R0718:Ltbp3'

262048

Institutional Source

Beutler Lab

Gene Symbol

Ltbp3

Ensembl Gene

ENSMUSG00000024940

Gene Name

latent transforming growth factor beta binding protein 3

Synonyms

Ltbp2

MMRRC Submission

038900-MU

Accession Numbers

Essential gene?

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

Stock #

R0718 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

5790932-5808560 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 5796776 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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (96/96)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	T	3: 95,586,918 (GRCm39)	Y811N	possibly damaging	Het
Adrm1	T	C	2: 179,816,940 (GRCm39)		probably benign	Het
Alms1	T	A	6: 85,598,803 (GRCm39)	S1210T	probably benign	Het
Ampd3	C	T	7: 110,377,015 (GRCm39)	P11L	probably damaging	Het
Arhgap5	A	G	12: 52,563,290 (GRCm39)	E87G	possibly damaging	Het
Armc5	C	T	7: 127,839,242 (GRCm39)		probably benign	Het
Asic2	C	G	11: 80,862,282 (GRCm39)		probably benign	Het
Asph	A	G	4: 9,514,683 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,531,351 (GRCm39)		probably null	Het
Brip1	A	G	11: 86,034,131 (GRCm39)	L530P	possibly damaging	Het
Bsn	G	T	9: 107,988,559 (GRCm39)		probably benign	Het
Btnl4	T	A	17: 34,688,608 (GRCm39)	H390L	probably benign	Het
Ccdc70	A	C	8: 22,463,324 (GRCm39)	K38T	probably damaging	Het
Ccni	G	A	5: 93,350,175 (GRCm39)	P35S	probably benign	Het
Cdh17	A	G	4: 11,810,451 (GRCm39)	D714G	possibly damaging	Het
Cenpf	A	G	1: 189,386,181 (GRCm39)	L2033P	probably damaging	Het
Cfap69	A	T	5: 5,671,924 (GRCm39)	M328K	probably damaging	Het
Cmah	T	G	13: 24,601,193 (GRCm39)		probably null	Het
Cog6	T	C	3: 52,918,050 (GRCm39)	T163A	probably benign	Het
Cyp2j8	G	A	4: 96,389,433 (GRCm39)	S130F	probably benign	Het
Dgki	A	G	6: 36,989,831 (GRCm39)	V636A	probably damaging	Het
Dmkn	T	A	7: 30,464,211 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,012,276 (GRCm39)	I3679T	possibly damaging	Het
Dsp	A	T	13: 38,380,740 (GRCm39)	Y2495F	possibly damaging	Het
Exosc4	C	T	15: 76,213,689 (GRCm39)	A171V	probably benign	Het
Fbxw24	A	G	9: 109,452,577 (GRCm39)		probably benign	Het
Flvcr1	A	T	1: 190,757,779 (GRCm39)	L171Q	probably damaging	Het
Fsd1	G	T	17: 56,303,445 (GRCm39)		probably null	Het
Gm7732	A	G	17: 21,350,106 (GRCm39)		noncoding transcript	Het
H2-K2	A	C	17: 34,194,597 (GRCm39)		noncoding transcript	Het
Hgf	A	G	5: 16,798,857 (GRCm39)	N295S	probably damaging	Het
Ift88	T	A	14: 57,754,870 (GRCm39)	D811E	probably benign	Het
Igsf9b	T	A	9: 27,234,657 (GRCm39)		probably null	Het
Immt	T	A	6: 71,840,156 (GRCm39)	V311E	probably damaging	Het
Ipo11	T	A	13: 107,056,119 (GRCm39)	N51I	possibly damaging	Het
Isy1	T	C	6: 87,796,158 (GRCm39)	K260E	probably damaging	Het
Jchain	T	G	5: 88,674,061 (GRCm39)	I28L	probably benign	Het
Jmjd1c	T	A	10: 67,054,725 (GRCm39)		probably null	Het
Kif13b	T	C	14: 64,989,111 (GRCm39)		probably benign	Het
Klhdc7b	T	C	15: 89,272,372 (GRCm39)	Y427H	possibly damaging	Het
Klhl8	T	C	5: 104,024,159 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,341,292 (GRCm39)	D963N	probably damaging	Het
Ltf	C	A	9: 110,869,447 (GRCm39)	Q41K	probably benign	Het
Med4	T	A	14: 73,754,097 (GRCm39)	I148N	probably damaging	Het
Mlh3	T	G	12: 85,294,471 (GRCm39)	S1242R	possibly damaging	Het
Mllt6	T	C	11: 97,567,185 (GRCm39)		probably benign	Het
Mpdz	A	G	4: 81,210,710 (GRCm39)	I1712T	possibly damaging	Het
Mrgprb4	T	A	7: 47,848,301 (GRCm39)	H209L	probably benign	Het
Nkapl	A	T	13: 21,652,610 (GRCm39)	M1K	probably null	Het
Nmur2	T	A	11: 55,920,324 (GRCm39)		probably benign	Het
Nsun2	T	A	13: 69,691,816 (GRCm39)		probably benign	Het
Or10ag60	A	G	2: 87,438,271 (GRCm39)	I180V	probably benign	Het
Or8k35	G	A	2: 86,424,425 (GRCm39)	T249I	probably benign	Het
Ovgp1	T	C	3: 105,882,146 (GRCm39)		probably benign	Het
Pcdh8	A	G	14: 80,008,131 (GRCm39)	V144A	possibly damaging	Het
Pcnx3	G	A	19: 5,727,756 (GRCm39)		probably benign	Het
Pla2r1	C	A	2: 60,309,874 (GRCm39)	V570L	possibly damaging	Het
Plxnd1	C	A	6: 115,943,599 (GRCm39)	E1202D	possibly damaging	Het
Ppp1r37	T	C	7: 19,266,179 (GRCm39)	E529G	probably benign	Het
Prdm15	A	G	16: 97,613,833 (GRCm39)	F496L	possibly damaging	Het
Prlhr	G	T	19: 60,456,497 (GRCm39)	S23*	probably null	Het
Prlhr	A	T	19: 60,456,443 (GRCm39)	V41D	probably benign	Het
Prpf4	C	T	4: 62,332,777 (GRCm39)		probably benign	Het
Psg26	C	T	7: 18,209,160 (GRCm39)	R416H	probably benign	Het
Psg26	T	C	7: 18,212,212 (GRCm39)	H381R	probably benign	Het
Ralgds	T	G	2: 28,439,128 (GRCm39)	M717R	probably benign	Het
Rbms1	T	C	2: 60,672,756 (GRCm39)	N44D	probably damaging	Het
Rpa1	T	C	11: 75,209,227 (GRCm39)		probably benign	Het
Rprd2	T	C	3: 95,673,699 (GRCm39)	N568S	probably benign	Het
Rptor	A	G	11: 119,763,202 (GRCm39)	M929V	probably benign	Het
Rspo1	T	A	4: 124,900,942 (GRCm39)	C97S	possibly damaging	Het
Scin	C	T	12: 40,129,606 (GRCm39)	G396S	probably damaging	Het
Scn9a	T	C	2: 66,377,456 (GRCm39)	N409D	probably damaging	Het
Sf3b1	A	G	1: 55,058,544 (GRCm39)	I15T	probably damaging	Het
Sh3bp2	T	C	5: 34,712,839 (GRCm39)	V149A	probably damaging	Het
Slc39a12	T	A	2: 14,412,237 (GRCm39)		probably benign	Het
Sp9	G	T	2: 73,104,171 (GRCm39)	A242S	possibly damaging	Het
Srr	A	G	11: 74,801,891 (GRCm39)	V126A	possibly damaging	Het
Tatdn3	G	T	1: 190,785,046 (GRCm39)		probably benign	Het
Tex14	G	A	11: 87,390,439 (GRCm39)	V379I	probably benign	Het
Tmed6	T	C	8: 107,788,356 (GRCm39)	N197S	probably damaging	Het
Ttbk2	A	T	2: 120,575,641 (GRCm39)	I1043N	probably benign	Het
Ttbk2	G	A	2: 120,579,056 (GRCm39)	L689F	probably benign	Het
Ttn	A	G	2: 76,641,040 (GRCm39)	S5283P	probably damaging	Het
Ube3b	C	A	5: 114,540,616 (GRCm39)	S441*	probably null	Het
Ush2a	G	A	1: 188,530,027 (GRCm39)	C3272Y	probably damaging	Het
Vac14	T	A	8: 111,359,109 (GRCm39)	I95K	probably damaging	Het
Vangl2	G	A	1: 171,833,784 (GRCm39)	A433V	probably damaging	Het
Vwa5b1	A	T	4: 138,336,135 (GRCm39)	V153D	probably damaging	Het
Zfhx3	T	A	8: 109,682,282 (GRCm39)	D3240E	unknown	Het
Zfp945	A	G	17: 23,070,004 (GRCm39)	C632R	probably damaging	Het
Zfyve26	G	A	12: 79,312,576 (GRCm39)		probably benign	Het
Zyg11b	A	T	4: 108,099,273 (GRCm39)	I606N	possibly 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
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
R1299:Ltbp3	UTSW	19	5,795,456 (GRCm39)	splice site	probably benign
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'- TGTCACAAGTGCCCACAGCTTC -3'
(R):5'- ACATGCCAGGCATCGCACATTC -3'

Sequencing Primer
(F):5'- CTGGGTGACTGATCCAGCTATC -3'
(R):5'- ATCGCACATTCGTTGATATCTG -3'

Posted On

2015-02-04