Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02253:Adamtsl2'

286488

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 #

IGL02253

Quality Score

Status

Chromosome

Chromosomal Location

27079379-27108981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27098697 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 587 (T587S)

Ref Sequence

ENSEMBL: ENSMUSP00000088774 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091233
AA Change: T587S

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: T587S

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: ENSMUST00000143246

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 120,207,959	E76G	probably benign	Het
Adgre4	T	A	17: 55,760,573	M9K	probably benign	Het
Aff2	T	A	X: 69,830,791	V447E	probably benign	Het
Arhgef10l	G	T	4: 140,544,284	S425*	probably null	Het
Cabcoco1	T	C	10: 68,436,277		probably null	Het
Calcr	T	A	6: 3,707,523	H259L	probably benign	Het
Cdc42bpa	T	A	1: 180,031,596		probably benign	Het
Cntnap5b	C	T	1: 100,164,211	H540Y	possibly damaging	Het
Cyp2a22	A	T	7: 26,938,237		probably benign	Het
Ddx3x	T	C	X: 13,284,968		probably benign	Het
Dnajc11	T	A	4: 151,950,519	Y28*	probably null	Het
Dock11	T	C	X: 36,041,128	F1472S	probably damaging	Het
Dusp18	T	C	11: 3,897,576	*189Q	probably null	Het
Dzip3	A	T	16: 48,944,924	Y476N	probably benign	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Evc2	T	A	5: 37,378,427		probably benign	Het
Fam151b	A	T	13: 92,477,927	Y18N	probably damaging	Het
Gk5	T	C	9: 96,137,771	F120S	probably damaging	Het
Gm17359	C	A	3: 79,449,434		probably benign	Het
Gm17359	C	A	3: 79,449,435		probably benign	Het
Kcna3	T	C	3: 107,037,411	L330P	probably damaging	Het
Kctd20	A	G	17: 28,961,486	N7S	probably benign	Het
Kmt2b	G	T	7: 30,581,727	R1276S	probably damaging	Het
Kmt2d	C	T	15: 98,858,175		probably benign	Het
L2hgdh	G	A	12: 69,705,760		probably benign	Het
Lifr	T	G	15: 7,190,604	V905G	probably damaging	Het
Mcm3ap	T	A	10: 76,470,065	V4E	probably benign	Het
Nrip3	A	C	7: 109,761,744		probably null	Het
Nsun2	T	G	13: 69,619,539	V204G	possibly damaging	Het
Nup54	A	G	5: 92,417,451		probably null	Het
Olfr494	T	A	7: 108,368,054	V188E	possibly damaging	Het
Olfr894	T	A	9: 38,219,735	M304K	probably benign	Het
Pdcl3	A	G	1: 38,994,930	D51G	probably benign	Het
Pdlim1	T	C	19: 40,230,530	E219G	probably damaging	Het
Pld4	A	C	12: 112,766,707	K239T	probably damaging	Het
Rgsl1	T	C	1: 153,793,767	Y291C	probably damaging	Het
Rnf213	C	A	11: 119,440,650	H2228Q	probably benign	Het
Rnf222	T	A	11: 68,893,036	I143N	probably damaging	Het
Sirt7	A	G	11: 120,620,867	I13T	probably benign	Het
Slfn10-ps	A	G	11: 83,029,064		noncoding transcript	Het
Slx4ip	T	C	2: 137,000,275		probably null	Het
Spata18	G	T	5: 73,668,596	S164I	possibly damaging	Het
Ssfa2	A	G	2: 79,660,444	T969A	probably damaging	Het
Stk26	T	C	X: 50,886,688	L212P	probably damaging	Het
Tmsb15a	T	C	X: 135,719,702	I56V	probably benign	Het
Tnrc6b	T	A	15: 80,876,541	S150T	probably damaging	Het
Tubb3	T	C	8: 123,420,820	M164T	probably benign	Het
Zfp516	A	G	18: 82,994,497	D1125G	probably benign	Het
Zyg11a	A	C	4: 108,183,695	V685G	probably null	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
IGL02655:Adamtsl2	APN	2	27082530	splice site	probably benign
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