Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02207:Adamtsl2'

284545

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamtsl2

Ensembl Gene

ENSMUSG00000036040

Gene Name

ADAMTS-like 2

Synonyms

A930008K15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02207

Quality Score

Status

Chromosome

Chromosomal Location

26969391-26998993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26992993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 702 (E702G)

Ref Sequence

ENSEMBL: ENSMUSP00000088774 (fasta)

Gene Model

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

AlphaFold

Q7TSK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000091233
AA Change: E702G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: E702G

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

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 84,454,913 (GRCm39)	T260A	probably damaging	Het
Agap3	A	T	5: 24,704,934 (GRCm39)	T660S	probably benign	Het
Amotl2	A	T	9: 102,601,896 (GRCm39)	E380V	probably damaging	Het
Ap4e1	A	G	2: 126,853,736 (GRCm39)	E58G	probably damaging	Het
Arap3	G	A	18: 38,120,906 (GRCm39)	A713V	probably benign	Het
B4galt2	T	C	4: 117,738,718 (GRCm39)	D33G	probably damaging	Het
Bbs7	A	T	3: 36,658,639 (GRCm39)	S212T	probably benign	Het
Ccl26	A	G	5: 135,592,224 (GRCm39)	Y38H	probably benign	Het
Ccne2	A	T	4: 11,202,261 (GRCm39)	S339C	probably benign	Het
Cd55	A	G	1: 130,380,156 (GRCm39)	V274A	possibly damaging	Het
Cenpw	T	G	10: 30,074,577 (GRCm39)		probably null	Het
Cert1	T	C	13: 96,761,300 (GRCm39)		probably null	Het
Chrnb4	T	C	9: 54,942,500 (GRCm39)	D258G	probably damaging	Het
Commd3	T	C	2: 18,678,819 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2b23	C	A	7: 26,381,180 (GRCm39)	R59L	probably damaging	Het
Edar	G	T	10: 58,446,343 (GRCm39)	T194K	probably damaging	Het
Edem3	A	G	1: 151,684,111 (GRCm39)	I733V	possibly damaging	Het
Elmod2	T	C	8: 84,048,135 (GRCm39)	Y109C	probably benign	Het
Eps15	C	T	4: 109,161,945 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,005,412 (GRCm39)	V1937A	probably benign	Het
Fdx2	T	A	9: 20,979,415 (GRCm39)		probably null	Het
Flg2	A	T	3: 93,127,435 (GRCm39)	I2116F	unknown	Het
Gm15091	A	G	X: 148,760,462 (GRCm39)	D424G	possibly damaging	Het
Gm16380	T	A	9: 53,791,823 (GRCm39)		noncoding transcript	Het
Gpn2	G	A	4: 133,311,947 (GRCm39)	V60M	possibly damaging	Het
Grip1	G	A	10: 119,911,214 (GRCm39)	R1044K	probably damaging	Het
H2-D1	T	A	17: 35,482,390 (GRCm39)	S37T	possibly damaging	Het
Havcr1	C	T	11: 46,669,403 (GRCm39)	A294V	probably benign	Het
Herc4	G	A	10: 63,135,023 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,274,572 (GRCm39)	Y748C	probably benign	Het
Il20ra	A	G	10: 19,627,326 (GRCm39)	T242A	probably damaging	Het
Ilvbl	G	A	10: 78,419,536 (GRCm39)		probably null	Het
Kif18a	A	T	2: 109,127,052 (GRCm39)	I329L	probably damaging	Het
Kmt2a	T	A	9: 44,758,979 (GRCm39)	I957F	probably damaging	Het
Krt1	A	G	15: 101,757,051 (GRCm39)	I282T	possibly damaging	Het
Lamb1	T	G	12: 31,379,434 (GRCm39)	V1768G	probably damaging	Het
Nek9	A	T	12: 85,350,257 (GRCm39)	L939*	probably null	Het
Nfe2l2	A	G	2: 75,508,869 (GRCm39)	L122P	probably damaging	Het
Nin	T	C	12: 70,103,431 (GRCm39)	M270V	probably damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Nrde2	T	C	12: 100,097,190 (GRCm39)	Y870C	probably benign	Het
Nsmce2	A	G	15: 59,287,927 (GRCm39)	M71V	probably benign	Het
Ocstamp	T	C	2: 165,239,583 (GRCm39)	H201R	possibly damaging	Het
Oog4	T	C	4: 143,165,510 (GRCm39)	I212M	probably benign	Het
Or11g2	G	A	14: 50,856,015 (GRCm39)	G112D	probably damaging	Het
Or12e7	A	G	2: 87,287,794 (GRCm39)	D95G	probably benign	Het
Osmr	T	C	15: 6,876,628 (GRCm39)	T99A	probably benign	Het
Pdia4	A	T	6: 47,773,741 (GRCm39)	M536K	probably benign	Het
Pdyn	A	T	2: 129,530,438 (GRCm39)	L77H	probably damaging	Het
Pikfyve	T	C	1: 65,290,837 (GRCm39)		probably null	Het
Plcb1	A	G	2: 135,229,091 (GRCm39)	E1105G	probably damaging	Het
Rb1	A	T	14: 73,443,525 (GRCm39)	D743E	probably damaging	Het
Rdh14	G	A	12: 10,444,712 (GRCm39)	V188I	possibly damaging	Het
Scd3	T	C	19: 44,204,028 (GRCm39)	V72A	possibly damaging	Het
Shld1	A	T	2: 132,533,866 (GRCm39)		probably benign	Het
Slc25a27	G	A	17: 43,972,575 (GRCm39)	R104W	probably damaging	Het
Slc29a4	A	G	5: 142,704,640 (GRCm39)	D394G	possibly damaging	Het
Slco1a8	A	T	6: 141,936,158 (GRCm39)	I309N	possibly damaging	Het
Snx29	T	G	16: 11,556,216 (GRCm39)	M407R	probably damaging	Het
Syf2	A	G	4: 134,662,363 (GRCm39)		probably null	Het
Syn1	T	C	X: 20,731,376 (GRCm39)	Q321R	probably benign	Het
Tbc1d12	A	T	19: 38,905,091 (GRCm39)	D602V	probably damaging	Het
Tenm4	A	T	7: 96,523,323 (GRCm39)	I1585F	possibly damaging	Het
Tgfbr1	A	G	4: 47,410,785 (GRCm39)		probably benign	Het
Trav6-2	G	A	14: 52,904,889 (GRCm39)	V8M	possibly damaging	Het
Unc119b	A	G	5: 115,272,813 (GRCm39)	S53P	probably benign	Het
Vmp1	T	A	11: 86,498,019 (GRCm39)	I299F	possibly damaging	Het
Xpot	T	C	10: 121,449,485 (GRCm39)	Y194C	probably damaging	Het
Zbtb10	T	A	3: 9,345,525 (GRCm39)		probably null	Het

Other mutations in Adamtsl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Adamtsl2	APN	2	26,975,100 (GRCm39)	missense	probably damaging	1.00
IGL01902:Adamtsl2	APN	2	26,977,264 (GRCm39)	missense	probably damaging	1.00
IGL02247:Adamtsl2	APN	2	26,974,905 (GRCm39)	missense	probably damaging	1.00
IGL02253:Adamtsl2	APN	2	26,988,709 (GRCm39)	missense	possibly damaging	0.48
IGL02655:Adamtsl2	APN	2	26,972,542 (GRCm39)	splice site	probably benign
IGL03148:Adamtsl2	APN	2	26,974,071 (GRCm39)	missense	probably damaging	0.99
IGL03269:Adamtsl2	APN	2	26,998,367 (GRCm39)	nonsense	probably null
R0609:Adamtsl2	UTSW	2	26,979,647 (GRCm39)	missense	probably benign	0.25
R1183:Adamtsl2	UTSW	2	26,974,092 (GRCm39)	missense	probably damaging	1.00
R1443:Adamtsl2	UTSW	2	26,993,078 (GRCm39)	missense	possibly damaging	0.89
R1675:Adamtsl2	UTSW	2	26,972,497 (GRCm39)	frame shift	probably null
R1698:Adamtsl2	UTSW	2	26,993,139 (GRCm39)	missense	possibly damaging	0.92
R1765:Adamtsl2	UTSW	2	26,992,842 (GRCm39)	missense	probably benign	0.01
R1934:Adamtsl2	UTSW	2	26,979,605 (GRCm39)	missense	probably damaging	0.99
R2106:Adamtsl2	UTSW	2	26,992,837 (GRCm39)	missense	probably benign	0.02
R2108:Adamtsl2	UTSW	2	26,985,570 (GRCm39)	missense	probably benign
R2189:Adamtsl2	UTSW	2	26,971,750 (GRCm39)	missense	probably benign	0.00
R2232:Adamtsl2	UTSW	2	26,993,190 (GRCm39)	missense	probably damaging	1.00
R4301:Adamtsl2	UTSW	2	26,977,295 (GRCm39)	missense	probably null	1.00
R4518:Adamtsl2	UTSW	2	26,985,559 (GRCm39)	missense	probably benign	0.00
R4572:Adamtsl2	UTSW	2	26,973,268 (GRCm39)	missense	probably damaging	0.99
R4627:Adamtsl2	UTSW	2	26,983,597 (GRCm39)	missense	probably damaging	0.99
R4668:Adamtsl2	UTSW	2	26,985,487 (GRCm39)	missense	probably benign	0.00
R4686:Adamtsl2	UTSW	2	26,983,837 (GRCm39)	missense	probably damaging	0.99
R4821:Adamtsl2	UTSW	2	26,988,604 (GRCm39)	splice site	probably null
R5054:Adamtsl2	UTSW	2	26,991,732 (GRCm39)	missense	probably damaging	1.00
R5460:Adamtsl2	UTSW	2	26,985,410 (GRCm39)	splice site	probably null
R5569:Adamtsl2	UTSW	2	26,992,845 (GRCm39)	missense	probably damaging	1.00
R5694:Adamtsl2	UTSW	2	26,971,736 (GRCm39)	missense	probably benign	0.03
R6836:Adamtsl2	UTSW	2	26,971,718 (GRCm39)	start codon destroyed	probably null	0.90
R7103:Adamtsl2	UTSW	2	26,997,473 (GRCm39)	missense	probably damaging	1.00
R7437:Adamtsl2	UTSW	2	26,979,721 (GRCm39)	missense	probably damaging	0.99
R8089:Adamtsl2	UTSW	2	26,994,809 (GRCm39)	missense	probably benign	0.00
R8389:Adamtsl2	UTSW	2	26,993,136 (GRCm39)	missense	possibly damaging	0.71
R9284:Adamtsl2	UTSW	2	26,994,055 (GRCm39)	splice site	probably benign
R9566:Adamtsl2	UTSW	2	26,979,773 (GRCm39)	critical splice donor site	probably null
R9772:Adamtsl2	UTSW	2	26,985,666 (GRCm39)	missense	probably benign
X0003:Adamtsl2	UTSW	2	26,971,785 (GRCm39)	small deletion	probably benign
X0003:Adamtsl2	UTSW	2	26,971,784 (GRCm39)	small deletion	probably benign
Z1176:Adamtsl2	UTSW	2	26,971,732 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16