Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02655:Adamtsl2'

302326

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamtsl2

Ensembl Gene

ENSMUSG00000036040

Gene Name

ADAMTS-like 2

Synonyms

A930008K15Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02655

Quality Score

Status

Chromosome

Chromosomal Location

27079379-27108981 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 27082530 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000088774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091233]

Predicted Effect

probably benign
Transcript: ENSMUST00000091233

SMART Domains

Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
TSP1	50	106	5.14e-7	SMART
Pfam:ADAM_spacer1	214	331	5.4e-28	PFAM
low complexity region	345	358	N/A	INTRINSIC
TSP1	573	629	8.15e-1	SMART
TSP1	631	692	1.85e-2	SMART
TSP1	694	744	4.15e-1	SMART
TSP1	747	796	9.98e-5	SMART
TSP1	803	861	4.95e-2	SMART
TSP1	863	914	2.53e-6	SMART
Pfam:PLAC	922	953	1.4e-12	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous null mice die shortly after birth, are cyanotic and exhibit respiratory distress. Severe bronchial epithelial dysplasia with abnormal glycogen-rich inclusions in the bronchial epithelium is observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	G	A	1: 105,678,246	V204M	probably damaging	Het
4930402F06Rik	A	T	2: 35,380,486	S68T	possibly damaging	Het
4930544G11Rik	T	G	6: 65,953,090	V103G	probably damaging	Het
Adam7	A	T	14: 68,516,611	D346E	probably damaging	Het
Adamts1	A	G	16: 85,802,617	S32P	probably benign	Het
Adgrb2	C	A	4: 129,992,179	Y37*	probably null	Het
Apba3	A	G	10: 81,272,954	R547G	probably benign	Het
Ccnd2	C	T	6: 127,148,770	G101D	probably damaging	Het
Cpm	A	G	10: 117,683,281	T365A	probably benign	Het
Cpt2	A	G	4: 107,907,427	V380A	probably damaging	Het
Dnah7b	A	T	1: 46,116,301		probably benign	Het
Enpp1	A	C	10: 24,677,974	D105E	probably damaging	Het
Ermp1	C	A	19: 29,646,210	E127*	probably null	Het
Evi5	T	C	5: 107,813,580	K375R	probably benign	Het
Gm11564	A	T	11: 99,815,156	C149*	probably null	Het
Golgb1	A	T	16: 36,918,080	E2260D	probably damaging	Het
Gpc2	T	C	5: 138,278,925	D80G	possibly damaging	Het
Hsd11b2	A	G	8: 105,522,328	I151V	probably benign	Het
Knl1	T	C	2: 119,070,992	I1058T	possibly damaging	Het
Krtap4-8	A	T	11: 99,780,628		probably benign	Het
Me1	A	G	9: 86,654,727		probably benign	Het
Mki67	C	T	7: 135,714,019	R38H	probably damaging	Het
Nsmaf	A	G	4: 6,424,933	F272L	possibly damaging	Het
Pcyox1	A	T	6: 86,389,344	V78E	probably damaging	Het
Pkp1	G	T	1: 135,889,773	T208N	probably benign	Het
Plagl2	T	C	2: 153,232,417	E188G	probably damaging	Het
Pramef20	A	G	4: 144,372,846	F450L	probably benign	Het
Ric1	T	A	19: 29,595,451	S764T	probably damaging	Het
Sec24a	G	A	11: 51,734,655	T247M	probably benign	Het
Slc25a17	C	T	15: 81,323,643	R248Q	probably benign	Het
Stk36	C	T	1: 74,634,535	P1068S	probably damaging	Het
Tcn2	C	A	11: 3,926,158	S90I	possibly damaging	Het
Tfec	C	T	6: 16,834,309	A200T	possibly damaging	Het
Vmn2r4	A	G	3: 64,398,465	I512T	probably damaging	Het

Other mutations in Adamtsl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Adamtsl2	APN	2	27085088	missense	probably damaging	1.00
IGL01902:Adamtsl2	APN	2	27087252	missense	probably damaging	1.00
IGL02207:Adamtsl2	APN	2	27102981	missense	probably damaging	0.99
IGL02247:Adamtsl2	APN	2	27084893	missense	probably damaging	1.00
IGL02253:Adamtsl2	APN	2	27098697	missense	possibly damaging	0.48
IGL03148:Adamtsl2	APN	2	27084059	missense	probably damaging	0.99
IGL03269:Adamtsl2	APN	2	27108355	nonsense	probably null
R0609:Adamtsl2	UTSW	2	27089635	missense	probably benign	0.25
R1183:Adamtsl2	UTSW	2	27084080	missense	probably damaging	1.00
R1443:Adamtsl2	UTSW	2	27103066	missense	possibly damaging	0.89
R1675:Adamtsl2	UTSW	2	27082485	frame shift	probably null
R1698:Adamtsl2	UTSW	2	27103127	missense	possibly damaging	0.92
R1765:Adamtsl2	UTSW	2	27102830	missense	probably benign	0.01
R1934:Adamtsl2	UTSW	2	27089593	missense	probably damaging	0.99
R2106:Adamtsl2	UTSW	2	27102825	missense	probably benign	0.02
R2108:Adamtsl2	UTSW	2	27095558	missense	probably benign
R2189:Adamtsl2	UTSW	2	27081738	missense	probably benign	0.00
R2232:Adamtsl2	UTSW	2	27103178	missense	probably damaging	1.00
R4301:Adamtsl2	UTSW	2	27087283	missense	probably null	1.00
R4518:Adamtsl2	UTSW	2	27095547	missense	probably benign	0.00
R4572:Adamtsl2	UTSW	2	27083256	missense	probably damaging	0.99
R4627:Adamtsl2	UTSW	2	27093585	missense	probably damaging	0.99
R4668:Adamtsl2	UTSW	2	27095475	missense	probably benign	0.00
R4686:Adamtsl2	UTSW	2	27093825	missense	probably damaging	0.99
R4821:Adamtsl2	UTSW	2	27098592	splice site	probably null
R5054:Adamtsl2	UTSW	2	27101720	missense	probably damaging	1.00
R5460:Adamtsl2	UTSW	2	27095398	splice site	probably null
R5569:Adamtsl2	UTSW	2	27102833	missense	probably damaging	1.00
R5694:Adamtsl2	UTSW	2	27081724	missense	probably benign	0.03
R6836:Adamtsl2	UTSW	2	27081706	start codon destroyed	probably null	0.90
R7103:Adamtsl2	UTSW	2	27107461	missense	probably damaging	1.00
R7437:Adamtsl2	UTSW	2	27089709	missense	probably damaging	0.99
R8089:Adamtsl2	UTSW	2	27104797	missense	probably benign	0.00
R8389:Adamtsl2	UTSW	2	27103124	missense	possibly damaging	0.71
X0003:Adamtsl2	UTSW	2	27081772	small deletion	probably benign
X0003:Adamtsl2	UTSW	2	27081773	small deletion	probably benign
Z1176:Adamtsl2	UTSW	2	27081720	missense	probably benign	0.03

Posted On

2015-04-16