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

27079379-27108981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27102981 bp (GRCm38)

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
1110034G24Rik	A	T	2: 132,691,946 (GRCm38)		probably benign	Het
Adgre5	T	C	8: 83,728,284 (GRCm38)	T260A	probably damaging	Het
Agap3	A	T	5: 24,499,936 (GRCm38)	T660S	probably benign	Het
Amotl2	A	T	9: 102,724,697 (GRCm38)	E380V	probably damaging	Het
Ap4e1	A	G	2: 127,011,816 (GRCm38)	E58G	probably damaging	Het
Arap3	G	A	18: 37,987,853 (GRCm38)	A713V	probably benign	Het
B4galt2	T	C	4: 117,881,521 (GRCm38)	D33G	probably damaging	Het
Bbs7	A	T	3: 36,604,490 (GRCm38)	S212T	probably benign	Het
Ccl26	A	G	5: 135,563,370 (GRCm38)	Y38H	probably benign	Het
Ccne2	A	T	4: 11,202,261 (GRCm38)	S339C	probably benign	Het
Cd55	A	G	1: 130,452,419 (GRCm38)	V274A	possibly damaging	Het
Cenpw	T	G	10: 30,198,581 (GRCm38)		probably null	Het
Chrnb4	T	C	9: 55,035,216 (GRCm38)	D258G	probably damaging	Het
Col4a3bp	T	C	13: 96,624,792 (GRCm38)		probably null	Het
Commd3	T	C	2: 18,674,008 (GRCm38)		probably null	Het
Csgalnact1	C	A	8: 68,401,492 (GRCm38)	G219V	probably damaging	Het
Cyp2b23	C	A	7: 26,681,755 (GRCm38)	R59L	probably damaging	Het
Edar	G	T	10: 58,610,521 (GRCm38)	T194K	probably damaging	Het
Edem3	A	G	1: 151,808,360 (GRCm38)	I733V	possibly damaging	Het
Elmod2	T	C	8: 83,321,506 (GRCm38)	Y109C	probably benign	Het
Eps15	C	T	4: 109,304,748 (GRCm38)		probably benign	Het
Fat4	T	C	3: 38,951,263 (GRCm38)	V1937A	probably benign	Het
Fdx1l	T	A	9: 21,068,119 (GRCm38)		probably null	Het
Flg2	A	T	3: 93,220,128 (GRCm38)	I2116F	unknown	Het
Gm15091	A	G	X: 149,977,466 (GRCm38)	D424G	possibly damaging	Het
Gm16380	T	A	9: 53,884,539 (GRCm38)		noncoding transcript	Het
Gm6614	A	T	6: 141,990,432 (GRCm38)	I309N	possibly damaging	Het
Gpn2	G	A	4: 133,584,636 (GRCm38)	V60M	possibly damaging	Het
Grip1	G	A	10: 120,075,309 (GRCm38)	R1044K	probably damaging	Het
H2-D1	T	A	17: 35,263,414 (GRCm38)	S37T	possibly damaging	Het
Havcr1	C	T	11: 46,778,576 (GRCm38)	A294V	probably benign	Het
Herc4	G	A	10: 63,299,244 (GRCm38)		probably null	Het
Ift140	A	G	17: 25,055,598 (GRCm38)	Y748C	probably benign	Het
Il20ra	A	G	10: 19,751,578 (GRCm38)	T242A	probably damaging	Het
Ilvbl	G	A	10: 78,583,702 (GRCm38)		probably null	Het
Kif18a	A	T	2: 109,296,707 (GRCm38)	I329L	probably damaging	Het
Kmt2a	T	A	9: 44,847,682 (GRCm38)	I957F	probably damaging	Het
Krt1	A	G	15: 101,848,616 (GRCm38)	I282T	possibly damaging	Het
Lamb1	T	G	12: 31,329,435 (GRCm38)	V1768G	probably damaging	Het
Nek9	A	T	12: 85,303,483 (GRCm38)	L939*	probably null	Het
Nfe2l2	A	G	2: 75,678,525 (GRCm38)	L122P	probably damaging	Het
Nin	T	C	12: 70,056,657 (GRCm38)	M270V	probably damaging	Het
Nlrp4a	G	T	7: 26,449,278 (GRCm38)	K103N	possibly damaging	Het
Nrde2	T	C	12: 100,130,931 (GRCm38)	Y870C	probably benign	Het
Nsmce2	A	G	15: 59,416,078 (GRCm38)	M71V	probably benign	Het
Ocstamp	T	C	2: 165,397,663 (GRCm38)	H201R	possibly damaging	Het
Olfr1126	A	G	2: 87,457,450 (GRCm38)	D95G	probably benign	Het
Olfr744	G	A	14: 50,618,558 (GRCm38)	G112D	probably damaging	Het
Oog4	T	C	4: 143,438,940 (GRCm38)	I212M	probably benign	Het
Osmr	T	C	15: 6,847,147 (GRCm38)	T99A	probably benign	Het
Pdia4	A	T	6: 47,796,807 (GRCm38)	M536K	probably benign	Het
Pdyn	A	T	2: 129,688,518 (GRCm38)	L77H	probably damaging	Het
Pikfyve	T	C	1: 65,251,678 (GRCm38)		probably null	Het
Plcb1	A	G	2: 135,387,171 (GRCm38)	E1105G	probably damaging	Het
Rb1	A	T	14: 73,206,085 (GRCm38)	D743E	probably damaging	Het
Rdh14	G	A	12: 10,394,712 (GRCm38)	V188I	possibly damaging	Het
Scd3	T	C	19: 44,215,589 (GRCm38)	V72A	possibly damaging	Het
Slc25a27	G	A	17: 43,661,684 (GRCm38)	R104W	probably damaging	Het
Slc29a4	A	G	5: 142,718,885 (GRCm38)	D394G	possibly damaging	Het
Snx29	T	G	16: 11,738,352 (GRCm38)	M407R	probably damaging	Het
Syf2	A	G	4: 134,935,052 (GRCm38)		probably null	Het
Syn1	T	C	X: 20,865,137 (GRCm38)	Q321R	probably benign	Het
Tbc1d12	A	T	19: 38,916,647 (GRCm38)	D602V	probably damaging	Het
Tenm4	A	T	7: 96,874,116 (GRCm38)	I1585F	possibly damaging	Het
Tgfbr1	A	G	4: 47,410,785 (GRCm38)		probably benign	Het
Trav6-2	G	A	14: 52,667,432 (GRCm38)	V8M	possibly damaging	Het
Unc119b	A	G	5: 115,134,754 (GRCm38)	S53P	probably benign	Het
Vmp1	T	A	11: 86,607,193 (GRCm38)	I299F	possibly damaging	Het
Xpot	T	C	10: 121,613,580 (GRCm38)	Y194C	probably damaging	Het
Zbtb10	T	A	3: 9,280,465 (GRCm38)		probably null	Het

Other mutations in Adamtsl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Adamtsl2	APN	2	27,085,088 (GRCm38)	missense	probably damaging	1.00
IGL01902:Adamtsl2	APN	2	27,087,252 (GRCm38)	missense	probably damaging	1.00
IGL02247:Adamtsl2	APN	2	27,084,893 (GRCm38)	missense	probably damaging	1.00
IGL02253:Adamtsl2	APN	2	27,098,697 (GRCm38)	missense	possibly damaging	0.48
IGL02655:Adamtsl2	APN	2	27,082,530 (GRCm38)	splice site	probably benign
IGL03148:Adamtsl2	APN	2	27,084,059 (GRCm38)	missense	probably damaging	0.99
IGL03269:Adamtsl2	APN	2	27,108,355 (GRCm38)	nonsense	probably null
R0609:Adamtsl2	UTSW	2	27,089,635 (GRCm38)	missense	probably benign	0.25
R1183:Adamtsl2	UTSW	2	27,084,080 (GRCm38)	missense	probably damaging	1.00
R1443:Adamtsl2	UTSW	2	27,103,066 (GRCm38)	missense	possibly damaging	0.89
R1675:Adamtsl2	UTSW	2	27,082,485 (GRCm38)	frame shift	probably null
R1698:Adamtsl2	UTSW	2	27,103,127 (GRCm38)	missense	possibly damaging	0.92
R1765:Adamtsl2	UTSW	2	27,102,830 (GRCm38)	missense	probably benign	0.01
R1934:Adamtsl2	UTSW	2	27,089,593 (GRCm38)	missense	probably damaging	0.99
R2106:Adamtsl2	UTSW	2	27,102,825 (GRCm38)	missense	probably benign	0.02
R2108:Adamtsl2	UTSW	2	27,095,558 (GRCm38)	missense	probably benign
R2189:Adamtsl2	UTSW	2	27,081,738 (GRCm38)	missense	probably benign	0.00
R2232:Adamtsl2	UTSW	2	27,103,178 (GRCm38)	missense	probably damaging	1.00
R4301:Adamtsl2	UTSW	2	27,087,283 (GRCm38)	missense	probably null	1.00
R4518:Adamtsl2	UTSW	2	27,095,547 (GRCm38)	missense	probably benign	0.00
R4572:Adamtsl2	UTSW	2	27,083,256 (GRCm38)	missense	probably damaging	0.99
R4627:Adamtsl2	UTSW	2	27,093,585 (GRCm38)	missense	probably damaging	0.99
R4668:Adamtsl2	UTSW	2	27,095,475 (GRCm38)	missense	probably benign	0.00
R4686:Adamtsl2	UTSW	2	27,093,825 (GRCm38)	missense	probably damaging	0.99
R4821:Adamtsl2	UTSW	2	27,098,592 (GRCm38)	splice site	probably null
R5054:Adamtsl2	UTSW	2	27,101,720 (GRCm38)	missense	probably damaging	1.00
R5460:Adamtsl2	UTSW	2	27,095,398 (GRCm38)	splice site	probably null
R5569:Adamtsl2	UTSW	2	27,102,833 (GRCm38)	missense	probably damaging	1.00
R5694:Adamtsl2	UTSW	2	27,081,724 (GRCm38)	missense	probably benign	0.03
R6836:Adamtsl2	UTSW	2	27,081,706 (GRCm38)	start codon destroyed	probably null	0.90
R7103:Adamtsl2	UTSW	2	27,107,461 (GRCm38)	missense	probably damaging	1.00
R7437:Adamtsl2	UTSW	2	27,089,709 (GRCm38)	missense	probably damaging	0.99
R8089:Adamtsl2	UTSW	2	27,104,797 (GRCm38)	missense	probably benign	0.00
R8389:Adamtsl2	UTSW	2	27,103,124 (GRCm38)	missense	possibly damaging	0.71
R9284:Adamtsl2	UTSW	2	27,104,043 (GRCm38)	splice site	probably benign
R9566:Adamtsl2	UTSW	2	27,089,761 (GRCm38)	critical splice donor site	probably null
R9772:Adamtsl2	UTSW	2	27,095,654 (GRCm38)	missense	probably benign
X0003:Adamtsl2	UTSW	2	27,081,773 (GRCm38)	small deletion	probably benign
X0003:Adamtsl2	UTSW	2	27,081,772 (GRCm38)	small deletion	probably benign
Z1176:Adamtsl2	UTSW	2	27,081,720 (GRCm38)	missense	probably benign	0.03

Posted On

2015-04-16