Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Adamtsl2'

550971

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl2

Ensembl Gene

ENSMUSG00000036040

Gene Name

ADAMTS-like 2

Synonyms

A930008K15Rik

MMRRC Submission

045195-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26969391-26998993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26997473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 893 (V893I)

Ref Sequence

ENSEMBL: ENSMUSP00000088774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091233] [ENSMUST00000151224]

AlphaFold

Q7TSK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000091233
AA Change: V893I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: V893I

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

probably benign
Transcript: ENSMUST00000151224

SMART Domains

Protein: ENSMUSP00000127556
Gene: ENSMUSG00000009216

Domain	Start	End	E-Value	Type
Pfam:FAM163	1	167	1.2e-68	PFAM

Meta Mutation Damage Score

0.2669

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,628,181 (GRCm39)	T294A	probably damaging	Het
Amph	T	A	13: 19,333,908 (GRCm39)	D656E	probably benign	Het
Aoah	T	C	13: 21,207,485 (GRCm39)	F568S	probably damaging	Het
Atr	G	A	9: 95,747,425 (GRCm39)	G236S	probably damaging	Het
Brd3	T	A	2: 27,340,406 (GRCm39)	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,379,426 (GRCm39)	E524G	probably damaging	Het
Cog2	T	C	8: 125,267,853 (GRCm39)		probably null	Het
Csnka2ip	C	A	16: 64,299,120 (GRCm39)	V415F	unknown	Het
Dmp1	A	T	5: 104,359,729 (GRCm39)	D135V	probably damaging	Het
Dtna	T	C	18: 23,786,436 (GRCm39)		probably null	Het
Endou	A	G	15: 97,616,810 (GRCm39)	S238P	probably damaging	Het
Ep400	T	A	5: 110,881,651 (GRCm39)	E779D	unknown	Het
Fcgbp	A	G	7: 27,784,387 (GRCm39)	E149G	probably benign	Het
G6pc1	C	A	11: 101,265,413 (GRCm39)		probably null	Het
Gmeb1	T	C	4: 131,962,179 (GRCm39)	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,312,902 (GRCm39)	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,161,793 (GRCm39)	G199D	probably benign	Het
Hoxb2	T	C	11: 96,244,447 (GRCm39)	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,226,572 (GRCm39)	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,673,648 (GRCm39)		probably null	Het
Kcnmb4	T	C	10: 116,309,164 (GRCm39)	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,005,507 (GRCm39)	Y89C	probably damaging	Het
Kif23	T	A	9: 61,827,174 (GRCm39)	K892N	probably damaging	Het
Lama3	T	A	18: 12,664,936 (GRCm39)	S646T	probably benign	Het
Lig3	T	A	11: 82,688,138 (GRCm39)	M709K	probably benign	Het
Mindy3	C	A	2: 12,405,885 (GRCm39)	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,196,057 (GRCm39)	E569G	possibly damaging	Het
Misp	T	A	10: 79,662,999 (GRCm39)	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,443,330 (GRCm39)	T303S	probably damaging	Het
Msh3	T	G	13: 92,411,308 (GRCm39)	I630L	probably benign	Het
Muc21	C	A	17: 35,932,432 (GRCm39)	A585S	unknown	Het
Myo16	A	G	8: 10,619,673 (GRCm39)	Y1408C	unknown	Het
N4bp2	T	C	5: 65,964,189 (GRCm39)	V746A	probably benign	Het
Oga	G	A	19: 45,771,605 (GRCm39)		probably benign	Het
Or4c120	A	G	2: 89,000,827 (GRCm39)	I243T	possibly damaging	Het
Or4d11	A	G	19: 12,013,752 (GRCm39)	M118T	probably damaging	Het
Or5p56	A	G	7: 107,589,805 (GRCm39)	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,573,715 (GRCm39)	M44I	probably null	Het
Pik3c2b	T	G	1: 133,033,712 (GRCm39)	L1572R	probably damaging	Het
Pilra	T	C	5: 137,829,488 (GRCm39)	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,437,027 (GRCm39)	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,113,429 (GRCm39)	D619G	probably benign	Het
Pramel31	C	T	4: 144,090,297 (GRCm39)	R446C	probably benign	Het
Ptprb	T	A	10: 116,174,718 (GRCm39)	Y797N	probably damaging	Het
Rb1	T	C	14: 73,500,084 (GRCm39)	D521G	probably damaging	Het
Rnf17	T	G	14: 56,708,763 (GRCm39)	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,218,787 (GRCm39)	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,244,693 (GRCm39)	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,701,201 (GRCm39)	V634A	probably benign	Het
Spam1	A	G	6: 24,800,583 (GRCm39)	M441V	probably benign	Het
Teddm3	A	C	16: 20,971,729 (GRCm39)	L280*	probably null	Het
Tmem231	T	C	8: 112,645,517 (GRCm39)		probably null	Het
Tom1l1	T	C	11: 90,561,907 (GRCm39)		probably null	Het
Topors	C	T	4: 40,261,706 (GRCm39)	G526D	probably benign	Het
Trpm6	A	T	19: 18,790,911 (GRCm39)	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,664,440 (GRCm39)	M66L	probably benign	Het
Tubgcp6	A	G	15: 88,985,232 (GRCm39)	F1619L	probably damaging	Het
Vps13d	G	T	4: 144,842,062 (GRCm39)	A2619E		Het
Vps8	G	A	16: 21,345,191 (GRCm39)	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,799 (GRCm39)	M86L	probably benign	Het
Zfp64	A	T	2: 168,768,357 (GRCm39)	D418E	probably benign	Het
Zfp952	C	T	17: 33,222,606 (GRCm39)	P362S	possibly damaging	Het
Zglp1	T	C	9: 20,977,368 (GRCm39)	E149G	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AAGGAACTGCTGTGTCCTTG -3'
(R):5'- CCTCAGAGAAGACCTCCTGAAG -3'

Sequencing Primer
(F):5'- GTGTCCTTGCCAGCCTGTG -3'
(R):5'- TAGATGCTTCCCCGGCTGATG -3'

Posted On

2019-05-15