Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02247:Adamtsl2'

286224

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 #

IGL02247

Quality Score

Status

Chromosome

Chromosomal Location

27079379-27108981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27084893 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 177 (R177G)

Ref Sequence

ENSEMBL: ENSMUSP00000088774 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000091233
AA Change: R177G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: R177G

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b1	T	C	13: 94,394,795		probably null	Het
Ascc3	A	C	10: 50,650,590	K595T	probably damaging	Het
Cnpy4	A	G	5: 138,192,863	T234A	probably benign	Het
Col13a1	T	C	10: 61,961,345	Y101C	probably damaging	Het
Crybg3	A	G	16: 59,503,150	I2809T	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dgkz	T	C	2: 91,937,460	S824G	probably benign	Het
Dsg1c	T	A	18: 20,264,316	I27N	probably damaging	Het
Efhb	C	T	17: 53,401,624	V673I	probably benign	Het
Egr1	T	C	18: 34,862,863	Y233H	possibly damaging	Het
Fam184a	T	C	10: 53,675,160	E237G	probably damaging	Het
Galt	A	G	4: 41,755,623		probably benign	Het
Gm4795	T	C	10: 45,007,115		noncoding transcript	Het
Gm6563	G	A	19: 23,676,028	E61K	possibly damaging	Het
Igkv1-133	G	A	6: 67,725,606	V103M	probably damaging	Het
Iqcb1	T	A	16: 36,839,896	H140Q	probably benign	Het
Itpk1	G	T	12: 102,623,409	P74Q	probably damaging	Het
Itpr3	T	A	17: 27,098,179	W803R	probably damaging	Het
Lgr4	C	T	2: 110,008,075		probably benign	Het
Lgr4	A	T	2: 110,002,501	D312V	probably benign	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mllt6	C	A	11: 97,670,332	A282E	probably benign	Het
Mtif2	T	C	11: 29,540,642	S449P	possibly damaging	Het
Nrg3	T	C	14: 38,371,312	I533M	probably damaging	Het
Nynrin	C	T	14: 55,871,710	Q1425*	probably null	Het
Olfr1148	A	G	2: 87,833,529	I163M	probably damaging	Het
Olfr1184	C	T	2: 88,487,427	H232Y	probably benign	Het
Olfr1469	T	A	19: 13,411,467	S299R	probably benign	Het
Olfr397	A	T	11: 73,964,862	M85L	probably benign	Het
Olfr679	T	A	7: 105,086,323	Y202*	probably null	Het
Olfr733	T	A	14: 50,299,114	N65I	probably damaging	Het
Olfr869	G	A	9: 20,137,220	V35I	probably benign	Het
Plcb4	C	T	2: 135,994,325	T20I	possibly damaging	Het
Ppp1r12b	G	T	1: 134,835,983	T771K	probably benign	Het
Prss22	T	C	17: 23,996,389	T138A	probably benign	Het
Ros1	A	T	10: 52,129,581	S907T	probably damaging	Het
Rtel1	T	A	2: 181,351,341	Y521*	probably null	Het
Sacs	T	C	14: 61,192,535	F678S	probably damaging	Het
Smtnl1	A	T	2: 84,817,028		probably benign	Het
Sumf2	T	C	5: 129,860,145	V258A	probably damaging	Het
Tas1r2	A	T	4: 139,669,516	Y722F	probably damaging	Het
Tecpr1	A	G	5: 144,206,554	F668L	possibly damaging	Het
Timd4	T	C	11: 46,815,731	F120S	probably damaging	Het
Tnnt3	T	C	7: 142,508,325		probably benign	Het
Trp53bp1	G	A	2: 121,236,589	S552F	probably damaging	Het
Txlnb	G	A	10: 17,830,342	R333Q	possibly damaging	Het
Txlnb	A	G	10: 17,841,528		probably benign	Het
Uroc1	A	G	6: 90,347,928	E461G	probably benign	Het
Vps45	G	A	3: 96,042,924	T231I	probably damaging	Het
Zfp648	T	A	1: 154,204,177	S27R	probably benign	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
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
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
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