Mutagenetix > Incidental Mutation

Incidental Mutation 'R9566:Adamtsl2'

721563

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl2

Ensembl Gene

ENSMUSG00000036040

Gene Name

ADAMTS-like 2

Synonyms

A930008K15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9566 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26969391-26998993 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 26979773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000088774 (fasta)

Gene Model

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

AlphaFold

Q7TSK7

Predicted Effect

probably null
Transcript: ENSMUST00000091233

SMART Domains

Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	G	A	2: 151,314,226 (GRCm39)	T484I	probably benign	Het
4930568D16Rik	C	A	2: 35,244,645 (GRCm39)	E236*	probably null	Het
Abca13	C	A	11: 9,414,927 (GRCm39)	T3998K	probably damaging	Het
Adam8	A	G	7: 139,565,285 (GRCm39)	V643A	probably benign	Het
Akr1c18	A	T	13: 4,195,203 (GRCm39)		probably null	Het
Atf7ip2	C	T	16: 10,044,893 (GRCm39)	S222L	probably benign	Het
Atp2c1	A	T	9: 105,343,828 (GRCm39)	I127N	probably damaging	Het
Bcl11b	A	G	12: 107,881,784 (GRCm39)	Y844H	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Btnl4	A	G	17: 34,688,263 (GRCm39)	I505T	probably benign	Het
Cacna1b	G	A	2: 24,498,092 (GRCm39)	Q2024*	probably null	Het
Cars1	A	G	7: 143,113,384 (GRCm39)		probably null	Het
Ccne2	A	G	4: 11,193,026 (GRCm39)	K49E	probably benign	Het
Ccnk	A	G	12: 108,152,695 (GRCm39)	N4S	probably benign	Het
Cfap91	A	G	16: 38,155,996 (GRCm39)	F76L	probably damaging	Het
Clasp1	A	G	1: 118,479,801 (GRCm39)	D1027G	probably benign	Het
Copb1	A	T	7: 113,825,997 (GRCm39)	N662K	probably benign	Het
Cox8b	C	T	7: 140,478,926 (GRCm39)	S63N	probably benign	Het
Cpa4	C	A	6: 30,579,608 (GRCm39)	D138E	probably benign	Het
Dcc	A	G	18: 71,943,866 (GRCm39)	C262R	possibly damaging	Het
Dennd5a	C	T	7: 109,533,254 (GRCm39)	G172E	probably benign	Het
Dgke	C	T	11: 88,932,273 (GRCm39)		probably null	Het
Dnah11	A	G	12: 117,938,728 (GRCm39)	Y3247H	possibly damaging	Het
Dnajc21	T	G	15: 10,464,019 (GRCm39)	I49L	possibly damaging	Het
Dnm1	A	G	2: 32,228,011 (GRCm39)		probably null	Het
Ecd	A	T	14: 20,393,368 (GRCm39)	Y93*	probably null	Het
Epm2aip1	T	C	9: 111,101,807 (GRCm39)	L260P	probably damaging	Het
Eqtn	G	A	4: 94,813,185 (GRCm39)	P134S	probably damaging	Het
Ercc1	T	A	7: 19,088,377 (GRCm39)	C243*	probably null	Het
Fbln2	C	A	6: 91,231,513 (GRCm39)	H537N	probably benign	Het
Ffar2	A	G	7: 30,518,847 (GRCm39)	F231S	probably damaging	Het
Fhod1	G	A	8: 106,064,516 (GRCm39)	A172V	unknown	Het
Gbp8	C	T	5: 105,198,799 (GRCm39)	V39M	probably damaging	Het
Gm5773	T	C	3: 93,680,742 (GRCm39)	L138P	probably damaging	Het
Gtf2ird2	A	G	5: 134,246,256 (GRCm39)	E838G	probably damaging	Het
Gucy2e	C	A	11: 69,118,947 (GRCm39)	V682L	probably damaging	Het
Hmcn1	T	G	1: 150,498,660 (GRCm39)	N4073T	probably benign	Het
Il22b	A	T	10: 118,130,860 (GRCm39)	L12H	probably damaging	Het
Ist1	A	T	8: 110,408,816 (GRCm39)	S94T	probably benign	Het
Klhl24	A	T	16: 19,934,669 (GRCm39)	N381Y	probably damaging	Het
Krtap24-1	C	T	16: 88,408,886 (GRCm39)	C80Y		Het
Lcp2	T	A	11: 34,000,944 (GRCm39)	D42E		Het
Map1s	G	A	8: 71,365,580 (GRCm39)	A162T	probably benign	Het
Mbd5	T	G	2: 49,169,521 (GRCm39)	V1564G	probably damaging	Het
Mettl15	A	T	2: 108,923,592 (GRCm39)	S277T	possibly damaging	Het
Mfsd12	C	G	10: 81,196,962 (GRCm39)	T177S	probably benign	Het
Mlxipl	A	G	5: 135,152,616 (GRCm39)	D244G	possibly damaging	Het
Mutyh	G	A	4: 116,673,780 (GRCm39)	V164M	probably damaging	Het
Mypop	A	G	7: 18,726,534 (GRCm39)	D167G	probably benign	Het
Nbeal2	C	T	9: 110,457,989 (GRCm39)	V2169M	probably benign	Het
Nifk	G	T	1: 118,260,492 (GRCm39)	V259F	probably damaging	Het
Oasl1	A	G	5: 115,066,331 (GRCm39)	T150A	probably benign	Het
Obox6	G	A	7: 15,568,352 (GRCm39)	R175C		Het
Or2y11	T	C	11: 49,443,162 (GRCm39)	V196A	probably benign	Het
Or5p52	T	A	7: 107,502,409 (GRCm39)	C162S	possibly damaging	Het
Or5p69	A	T	7: 107,966,783 (GRCm39)	I29F	probably benign	Het
Per3	A	G	4: 151,113,335 (GRCm39)	F331S		Het
Pitrm1	A	G	13: 6,613,452 (GRCm39)	D508G	probably benign	Het
Plec	T	A	15: 76,062,790 (GRCm39)	I2427F	possibly damaging	Het
Prkd3	A	T	17: 79,292,652 (GRCm39)	V140D	probably damaging	Het
Prpf3	G	A	3: 95,760,800 (GRCm39)	A34V	probably damaging	Het
Ptar1	A	G	19: 23,686,206 (GRCm39)	T173A	probably benign	Het
Resf1	A	G	6: 149,227,352 (GRCm39)	N133D	possibly damaging	Het
Rest	G	T	5: 77,416,277 (GRCm39)	E164*	probably null	Het
Rnpepl1	A	C	1: 92,847,468 (GRCm39)	D685A		Het
Sc5d	T	C	9: 42,170,008 (GRCm39)	N71S	probably damaging	Het
Serpinb3c	A	T	1: 107,200,425 (GRCm39)	S239R	probably damaging	Het
Slc28a3	C	T	13: 58,758,653 (GRCm39)		probably benign	Het
Smagp	T	C	15: 100,519,844 (GRCm39)	Y60C	probably damaging	Het
Spink10	T	A	18: 62,790,939 (GRCm39)	M75K	probably benign	Het
Spryd7	T	C	14: 61,777,639 (GRCm39)	N147S	probably benign	Het
Steap4	A	G	5: 8,025,646 (GRCm39)	E69G	possibly damaging	Het
Svil	C	A	18: 5,099,661 (GRCm39)	H1732Q	probably damaging	Het
Tgoln1	T	C	6: 72,592,911 (GRCm39)	T190A	probably benign	Het
Tmem63c	C	T	12: 87,108,305 (GRCm39)	S106F	possibly damaging	Het
Trpv5	T	C	6: 41,637,456 (GRCm39)	D375G	probably null	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ugt2b38	A	G	5: 87,558,209 (GRCm39)	L484P	probably damaging	Het
Uox	A	T	3: 146,330,308 (GRCm39)	T179S	possibly damaging	Het
Usp34	A	G	11: 23,317,529 (GRCm39)	I882V		Het
Vmn2r124	A	G	17: 18,293,581 (GRCm39)	K556R	probably benign	Het
Vmn2r57	A	G	7: 41,077,089 (GRCm39)	F359S	probably benign	Het
Wasf2	T	C	4: 132,921,766 (GRCm39)	V295A	unknown	Het
Znhit1	G	A	5: 137,015,785 (GRCm39)		probably benign	Het
Zscan22	C	T	7: 12,640,866 (GRCm39)	T370M	probably damaging	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
IGL02207:Adamtsl2	APN	2	26,992,993 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCCTTGCAGATGAAGCTG -3'
(R):5'- TGGGATGGCATAGAACAACAGTTC -3'

Sequencing Primer
(F):5'- CCTTGCAGATGAAGCTGGTTTCTAC -3'
(R):5'- CAACAGTTCTGAATGGATGGATG -3'

Posted On

2022-08-09