Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03269:Adamtsl2'

415206

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 #

IGL03269

Quality Score

Status

Chromosome

Chromosomal Location

27079379-27108981 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 27108355 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 930 (C930*)

Ref Sequence

ENSEMBL: ENSMUSP00000088774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091233] [ENSMUST00000151224]

Predicted Effect

probably null
Transcript: ENSMUST00000091233
AA Change: C930*

SMART Domains

Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: C930*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130600

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139633

Predicted Effect

probably benign
Transcript: ENSMUST00000151224

SMART Domains

Protein: ENSMUSP00000127556
Gene: ENSMUSG00000009216

Domain	Start	End	E-Value	Type
Pfam:FAM163	1	167	1.2e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169787

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankar	A	T	1: 72,665,201	V854E	probably damaging	Het
Ccdc151	A	G	9: 21,998,043		probably null	Het
Ceacam3	T	A	7: 17,161,842	L579Q	probably damaging	Het
Clip2	G	T	5: 134,516,894	H314Q	probably damaging	Het
Fbxo28	A	G	1: 182,317,018	V327A	possibly damaging	Het
Gdap1	T	A	1: 17,161,505	F358Y	probably benign	Het
Ighv1-18	T	C	12: 114,682,846	Y46C	probably damaging	Het
Il1rl2	T	A	1: 40,365,312	F531Y	probably damaging	Het
Irf6	A	G	1: 193,162,598		probably benign	Het
Ncoa6	T	C	2: 155,406,489	T1632A	probably damaging	Het
Olfr1469	T	A	19: 13,411,428	N286K	probably damaging	Het
Olfr723	T	A	14: 49,928,708	T279S	probably damaging	Het
Olfr902	A	G	9: 38,448,901	T10A	probably benign	Het
Osgepl1	C	A	1: 53,321,112	Y332*	probably null	Het
Pibf1	G	A	14: 99,187,735	A553T	probably damaging	Het
Prpf38b	A	G	3: 108,905,241	F219L	probably benign	Het
Pwp1	C	A	10: 85,882,904	Q312K	probably damaging	Het
Rnf17	T	C	14: 56,427,946	V185A	possibly damaging	Het
Serpina3k	T	C	12: 104,340,521	I4T	possibly damaging	Het
Slc33a1	A	G	3: 63,963,757	V145A	probably damaging	Het
Slco3a1	T	C	7: 74,318,532	D480G	possibly damaging	Het
Tcrg-V4	T	A	13: 19,185,452	I122K	probably damaging	Het
Tdpoz4	G	A	3: 93,796,837	C147Y	probably damaging	Het
Tlr4	C	A	4: 66,840,796	P609T	probably damaging	Het
Ttc30a2	T	C	2: 75,978,135	D11G	possibly damaging	Het
Unc79	A	G	12: 103,088,677	K927E	probably damaging	Het
Vmn1r71	G	A	7: 10,748,644	T39I	possibly damaging	Het
Vmn2r9	A	G	5: 108,847,954	L276P	probably damaging	Het
Zfp335	C	A	2: 164,900,354	R570L	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
IGL02655:Adamtsl2	APN	2	27082530	splice site	probably benign
IGL03148:Adamtsl2	APN	2	27084059	missense	probably damaging	0.99
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

2016-08-02