Mutagenetix > Incidental Mutation

Incidental Mutation 'R0609:Adamtsl2'

54481

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl2

Ensembl Gene

ENSMUSG00000036040

Gene Name

ADAMTS-like 2

Synonyms

A930008K15Rik

MMRRC Submission

038798-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0609 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27079379-27108981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27089635 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 272 (D272G)

Ref Sequence

ENSEMBL: ENSMUSP00000088774 (fasta)

Gene Model

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

AlphaFold

Q7TSK7

Predicted Effect

probably benign
Transcript: ENSMUST00000091233
AA Change: D272G

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: D272G

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: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,811,461 (GRCm38)		probably null	Het
Abcb4	T	A	5: 8,947,376 (GRCm38)	C952S	probably damaging	Het
Aim2	G	A	1: 173,461,964 (GRCm38)	D158N	probably damaging	Het
Aldh3b1	C	T	19: 3,914,024 (GRCm38)	R426H	probably damaging	Het
Apoc2	A	G	7: 19,673,353 (GRCm38)	S28P	probably benign	Het
Arfgef3	G	A	10: 18,597,431 (GRCm38)	T1628I	probably benign	Het
Atp10a	G	A	7: 58,819,740 (GRCm38)		probably null	Het
Bcl2	G	A	1: 106,712,562 (GRCm38)	R107C	probably damaging	Het
Bmp8b	T	A	4: 123,121,899 (GRCm38)	D226E	probably benign	Het
Brsk2	T	C	7: 141,998,492 (GRCm38)	Y618H	probably damaging	Het
Casp12	T	A	9: 5,346,554 (GRCm38)	F27Y	probably damaging	Het
Casp8	T	A	1: 58,844,792 (GRCm38)	N439K	probably benign	Het
Ccdc175	T	A	12: 72,157,507 (GRCm38)	K253N	probably benign	Het
Cdc42bpa	A	G	1: 180,040,179 (GRCm38)	H193R	probably damaging	Het
Cdk17	T	C	10: 93,216,472 (GRCm38)	M105T	probably benign	Het
Cdon	C	A	9: 35,478,611 (GRCm38)	P854T	probably damaging	Het
Cep44	A	G	8: 56,544,152 (GRCm38)	M117T	possibly damaging	Het
Cep89	A	T	7: 35,435,530 (GRCm38)	E674D	probably damaging	Het
Cit	C	T	5: 115,873,943 (GRCm38)	A203V	probably damaging	Het
Clstn1	C	A	4: 149,629,300 (GRCm38)		probably null	Het
Col7a1	T	A	9: 108,958,147 (GRCm38)	D565E	unknown	Het
Cpb1	T	A	3: 20,262,474 (GRCm38)	Y304F	probably damaging	Het
Cps1	T	G	1: 67,172,802 (GRCm38)	Y710D	probably damaging	Het
Creb3l1	T	C	2: 91,987,053 (GRCm38)	T372A	possibly damaging	Het
Dars	A	G	1: 128,405,381 (GRCm38)	V102A	probably benign	Het
Dhx35	C	T	2: 158,817,415 (GRCm38)	T168I	possibly damaging	Het
Dnah5	T	C	15: 28,327,779 (GRCm38)	S2100P	probably benign	Het
Dst	T	C	1: 34,266,960 (GRCm38)		probably null	Het
Egflam	A	C	15: 7,253,523 (GRCm38)	L351R	possibly damaging	Het
Elp2	T	A	18: 24,626,156 (GRCm38)	D523E	probably benign	Het
Exo5	C	A	4: 120,921,684 (GRCm38)	G328V	probably damaging	Het
Fam208a	C	T	14: 27,461,750 (GRCm38)	T722I	probably benign	Het
Fut9	A	G	4: 25,620,811 (GRCm38)	M1T	probably null	Het
Galnt5	A	G	2: 58,024,625 (GRCm38)	N584S	possibly damaging	Het
Gbp3	T	C	3: 142,567,772 (GRCm38)	V360A	probably damaging	Het
Gdf6	G	A	4: 9,859,977 (GRCm38)	C353Y	probably damaging	Het
Gm13089	A	T	4: 143,698,503 (GRCm38)	D123E	probably benign	Het
Hace1	A	G	10: 45,648,869 (GRCm38)	T244A	probably damaging	Het
Hr	T	C	14: 70,559,657 (GRCm38)	I500T	probably benign	Het
Ifnl2	A	T	7: 28,509,282 (GRCm38)	L115Q	probably damaging	Het
Iigp1	T	C	18: 60,389,824 (GRCm38)	F5L	probably benign	Het
Inhbb	A	G	1: 119,417,416 (GRCm38)	L381P	probably damaging	Het
Irx3	A	T	8: 91,801,093 (GRCm38)	S50T	probably benign	Het
Ivns1abp	C	T	1: 151,360,145 (GRCm38)	T363I	probably benign	Het
Izumo1	A	T	7: 45,622,899 (GRCm38)	T35S	probably benign	Het
Kank4	A	G	4: 98,777,105 (GRCm38)	S651P	probably damaging	Het
Kit	T	C	5: 75,610,879 (GRCm38)	V232A	probably benign	Het
Klhl11	T	C	11: 100,463,714 (GRCm38)	Y427C	probably damaging	Het
Laptm4b	T	A	15: 34,258,689 (GRCm38)	N36K	probably damaging	Het
Lrrk1	T	C	7: 66,266,615 (GRCm38)		probably null	Het
Mamdc4	G	T	2: 25,564,193 (GRCm38)	Q1042K	probably benign	Het
Mical2	A	G	7: 112,321,440 (GRCm38)		probably null	Het
Ms4a3	C	A	19: 11,631,361 (GRCm38)	V176F	possibly damaging	Het
Myo3a	T	C	2: 22,333,513 (GRCm38)	V427A	probably benign	Het
Myo3a	A	C	2: 22,396,299 (GRCm38)	E626D	possibly damaging	Het
Nckap5	A	T	1: 126,027,288 (GRCm38)	L509*	probably null	Het
Ndufa5	A	T	6: 24,519,249 (GRCm38)	D64E	possibly damaging	Het
Nedd4l	T	C	18: 65,208,461 (GRCm38)	Y753H	probably damaging	Het
Nynrin	T	C	14: 55,872,761 (GRCm38)	V1775A	probably damaging	Het
Olfr141	A	G	2: 86,806,861 (GRCm38)	L46S	probably damaging	Het
Olfr292	T	C	7: 86,694,876 (GRCm38)	V140A	possibly damaging	Het
Olfr694	A	T	7: 106,688,998 (GRCm38)	H244Q	probably damaging	Het
Olfr735	T	C	14: 50,345,926 (GRCm38)	Y141C	probably damaging	Het
Olfr823	G	A	10: 130,112,580 (GRCm38)	S70F	probably damaging	Het
Oplah	A	G	15: 76,302,992 (GRCm38)	S570P	probably benign	Het
Osbpl11	C	A	16: 33,234,444 (GRCm38)	Y632*	probably null	Het
Osbpl5	A	T	7: 143,694,821 (GRCm38)	L644Q	probably damaging	Het
Pcdhb19	T	C	18: 37,497,952 (GRCm38)	W267R	probably benign	Het
Pkhd1l1	A	C	15: 44,467,424 (GRCm38)	S132R	possibly damaging	Het
Ptpn13	T	A	5: 103,556,145 (GRCm38)	S1348T	probably benign	Het
Rc3h1	T	A	1: 160,930,135 (GRCm38)	W8R	probably damaging	Het
Rgs3	T	G	4: 62,625,936 (GRCm38)	V315G	probably damaging	Het
Rora	T	A	9: 69,361,869 (GRCm38)	M82K	probably damaging	Het
Rph3al	T	C	11: 75,908,969 (GRCm38)	I55V	probably benign	Het
Sag	T	C	1: 87,812,991 (GRCm38)	V45A	probably damaging	Het
Scn3a	T	C	2: 65,536,510 (GRCm38)	E56G	probably damaging	Het
Sec24c	T	G	14: 20,686,948 (GRCm38)	V324G	probably damaging	Het
Sptbn1	A	G	11: 30,138,979 (GRCm38)	L748S	probably damaging	Het
Stard9	A	T	2: 120,706,306 (GRCm38)	D4186V	probably damaging	Het
Stk39	T	C	2: 68,366,167 (GRCm38)	E306G	probably damaging	Het
Sycp1	C	A	3: 102,898,849 (GRCm38)		probably null	Het
Taf2	A	C	15: 55,060,050 (GRCm38)	L277R	probably damaging	Het
Tbc1d23	T	A	16: 57,173,106 (GRCm38)	I566F	possibly damaging	Het
Tekt5	T	C	16: 10,361,304 (GRCm38)	T400A	possibly damaging	Het
Tgfbrap1	T	C	1: 43,060,141 (GRCm38)	H401R	probably benign	Het
Tie1	T	A	4: 118,476,147 (GRCm38)	I841L	possibly damaging	Het
Tln1	T	G	4: 43,544,645 (GRCm38)	T1095P	possibly damaging	Het
Tmem147	A	G	7: 30,728,102 (GRCm38)	Y72H	probably benign	Het
Tnfaip2	A	G	12: 111,453,507 (GRCm38)	N691S	probably benign	Het
Trim24	G	A	6: 37,957,783 (GRCm38)	C811Y	probably damaging	Het
Trim30b	T	A	7: 104,357,976 (GRCm38)		probably benign	Het
Trpc4	T	G	3: 54,194,768 (GRCm38)	L29R	probably damaging	Het
Trpm6	A	T	19: 18,825,862 (GRCm38)	I890F	probably damaging	Het
Ttc23l	C	T	15: 10,504,536 (GRCm38)	E442K	probably benign	Het
Uggt2	A	G	14: 119,095,336 (GRCm38)	V62A	probably damaging	Het
Ugt1a6a	C	A	1: 88,138,884 (GRCm38)	S137R	probably benign	Het
Unc13a	A	G	8: 71,658,467 (GRCm38)	Y367H	probably damaging	Het
Vmn2r49	A	G	7: 9,976,306 (GRCm38)	I833T	probably benign	Het
Vmn2r7	T	C	3: 64,716,479 (GRCm38)	D231G	probably benign	Het
Ythdc2	A	T	18: 44,864,357 (GRCm38)	M994L	probably benign	Het
Zcchc6	A	T	13: 59,799,782 (GRCm38)	C506*	probably null	Het
Zfp804a	G	A	2: 82,257,588 (GRCm38)	S587N	probably damaging	Het
Zswim2	A	G	2: 83,923,659 (GRCm38)	I219T	probably benign	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
IGL02207:Adamtsl2	APN	2	27,102,981 (GRCm38)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCTCATCTGAGACAGACAGAAGG -3'
(R):5'- CCATCTCTGAAAGCCTGTGGCATAC -3'

Sequencing Primer
(F):5'- GGCACAGTGTCTGTCTGATCC -3'
(R):5'- GTGGCATACGCACCATGAC -3'

Posted On

2013-07-11