Mutagenetix > Incidental Mutation

Incidental Mutation 'R1934:Adamtsl2'

215637

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl2

Ensembl Gene

ENSMUSG00000036040

Gene Name

ADAMTS-like 2

Synonyms

A930008K15Rik

MMRRC Submission

039952-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1934 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26969391-26998993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26979605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 258 (D258V)

Ref Sequence

ENSEMBL: ENSMUSP00000088774 (fasta)

Gene Model

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

AlphaFold

Q7TSK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000091233
AA Change: D258V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: D258V

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,626,792 (GRCm39)	L548P	probably damaging	Het
Abca6	A	G	11: 110,100,909 (GRCm39)		probably null	Het
Abcb5	A	G	12: 118,871,235 (GRCm39)		probably null	Het
Acacb	G	A	5: 114,336,343 (GRCm39)	A686T	probably benign	Het
Acot6	T	C	12: 84,153,367 (GRCm39)	V203A	probably benign	Het
Adam25	A	T	8: 41,207,922 (GRCm39)	Y396F	probably benign	Het
Adamts9	A	G	6: 92,920,102 (GRCm39)	L12P	possibly damaging	Het
Aox4	G	A	1: 58,285,095 (GRCm39)	V616I	probably benign	Het
Ap1m1	A	G	8: 73,009,637 (GRCm39)	I382V	probably damaging	Het
Arhgef2	G	A	3: 88,537,098 (GRCm39)	R8Q	probably damaging	Het
Arhgef37	T	G	18: 61,657,014 (GRCm39)	E17A	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Arih1	T	C	9: 59,302,215 (GRCm39)	D431G	probably damaging	Het
Astn2	C	T	4: 65,353,426 (GRCm39)	V1115M	probably damaging	Het
Atg7	T	A	6: 114,678,196 (GRCm39)	M280K	probably damaging	Het
Birc2	T	C	9: 7,854,500 (GRCm39)	T397A	possibly damaging	Het
Ccdc110	A	G	8: 46,396,287 (GRCm39)	N726S	probably damaging	Het
Cdadc1	A	T	14: 59,827,309 (GRCm39)	S121T	possibly damaging	Het
Cdh16	A	G	8: 105,344,595 (GRCm39)	V7A	possibly damaging	Het
Cenpb	A	G	2: 131,021,184 (GRCm39)	S205P	probably benign	Het
Chsy1	T	C	7: 65,821,991 (GRCm39)	V742A	probably damaging	Het
Col12a1	G	A	9: 79,511,804 (GRCm39)	R133*	probably null	Het
Col18a1	A	C	10: 76,948,578 (GRCm39)	S311R	possibly damaging	Het
Col9a3	G	A	2: 180,248,927 (GRCm39)	V260M	probably damaging	Het
Coq2	T	A	5: 100,809,731 (GRCm39)	R17S	probably damaging	Het
Ctf1	A	G	7: 127,311,936 (GRCm39)	R4G	probably damaging	Het
Cwc27	T	C	13: 104,768,184 (GRCm39)	D437G	probably benign	Het
Cyp4f14	T	C	17: 33,125,289 (GRCm39)	N430D	probably damaging	Het
Dars2	A	G	1: 160,890,811 (GRCm39)		probably null	Het
Dgkz	A	T	2: 91,767,449 (GRCm39)	M848K	possibly damaging	Het
Dnhd1	T	G	7: 105,357,789 (GRCm39)	V3208G	probably benign	Het
Dsg1b	A	G	18: 20,528,963 (GRCm39)	Y233C	probably damaging	Het
Edem3	A	T	1: 151,680,034 (GRCm39)	D460V	probably damaging	Het
Ednra	A	G	8: 78,415,747 (GRCm39)	S167P	possibly damaging	Het
Eif3m	A	T	2: 104,831,624 (GRCm39)	V180D	probably damaging	Het
Fam217a	T	A	13: 35,094,864 (GRCm39)	R207S	probably damaging	Het
Fcgbp	G	A	7: 27,806,518 (GRCm39)	G2162D	probably damaging	Het
Fhod3	A	T	18: 25,223,335 (GRCm39)	I894F	probably benign	Het
Fpgs	A	T	2: 32,577,993 (GRCm39)	I143N	probably damaging	Het
Fpr-rs6	A	G	17: 20,403,152 (GRCm39)	S70P	probably benign	Het
Frs2	T	C	10: 116,914,806 (GRCm39)	M38V	probably damaging	Het
Fsip2	A	G	2: 82,810,902 (GRCm39)	N2407S	possibly damaging	Het
Gabrg2	T	A	11: 41,811,297 (GRCm39)	T283S	probably benign	Het
Gas2l1	T	A	11: 5,011,408 (GRCm39)	T474S	probably benign	Het
Gli1	A	T	10: 127,167,108 (GRCm39)	M715K	possibly damaging	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm5800	T	A	14: 51,949,396 (GRCm39)	N183I	possibly damaging	Het
Gm8674	T	A	13: 50,055,471 (GRCm39)		noncoding transcript	Het
Gnat3	A	T	5: 18,224,508 (GRCm39)	I303F	possibly damaging	Het
Grin2d	C	T	7: 45,506,251 (GRCm39)	V547M	probably damaging	Het
Grpr	C	A	X: 162,332,137 (GRCm39)	V53L	probably benign	Het
Heatr5b	T	C	17: 79,103,347 (GRCm39)	I1169V	possibly damaging	Het
Icam5	A	G	9: 20,946,082 (GRCm39)	T305A	probably benign	Het
Itga11	T	A	9: 62,651,796 (GRCm39)	N309K	probably damaging	Het
Itgb6	T	C	2: 60,499,493 (GRCm39)	D100G	probably benign	Het
Kdm3b	A	G	18: 34,946,597 (GRCm39)	K862R	probably benign	Het
Kif7	T	C	7: 79,361,286 (GRCm39)	D135G	probably benign	Het
Lrp4	A	G	2: 91,310,777 (GRCm39)	D606G	probably damaging	Het
Lrrtm1	A	T	6: 77,221,949 (GRCm39)		probably null	Het
Metap1d	A	T	2: 71,352,927 (GRCm39)	H252L	possibly damaging	Het
Mfhas1	A	G	8: 36,058,251 (GRCm39)	K909E	possibly damaging	Het
Mrgprh	C	T	17: 13,095,838 (GRCm39)	T26I	probably damaging	Het
Myo15b	T	C	11: 115,754,310 (GRCm39)	S937P	probably benign	Het
Neto2	A	T	8: 86,397,033 (GRCm39)	I73N	possibly damaging	Het
Nod2	T	C	8: 89,390,347 (GRCm39)	I196T	probably benign	Het
Nvl	T	G	1: 180,926,693 (GRCm39)	T788P	probably damaging	Het
Or13a25	C	A	7: 140,247,951 (GRCm39)	C243*	probably null	Het
Or2h2	A	T	17: 37,396,906 (GRCm39)	D50E	possibly damaging	Het
Pax3	G	A	1: 78,080,117 (GRCm39)	T423I	possibly damaging	Het
Pde4dip	A	G	3: 97,600,007 (GRCm39)	V2403A	possibly damaging	Het
Phip	C	T	9: 82,785,235 (GRCm39)	V827I	probably benign	Het
Plcb3	A	G	19: 6,941,977 (GRCm39)	F285L	probably damaging	Het
Pnp2	A	G	14: 51,193,675 (GRCm39)	I16V	probably benign	Het
Pola2	A	G	19: 6,003,769 (GRCm39)	L202P	probably damaging	Het
Ppfia1	A	T	7: 144,058,847 (GRCm39)	N651K	probably benign	Het
Prss53	T	C	7: 127,485,920 (GRCm39)		probably null	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Rasgrf2	A	T	13: 92,131,825 (GRCm39)		probably null	Het
Rccd1	T	A	7: 79,970,272 (GRCm39)	N115I	possibly damaging	Het
Rpgrip1	A	T	14: 52,352,101 (GRCm39)	T26S	possibly damaging	Het
Rpn1	T	A	6: 88,070,841 (GRCm39)	V237E	probably damaging	Het
Sema4f	G	T	6: 82,907,908 (GRCm39)	P180Q	probably damaging	Het
Slc36a4	T	C	9: 15,632,085 (GRCm39)	V87A	probably damaging	Het
Slc5a4b	A	T	10: 75,917,307 (GRCm39)	V243E	possibly damaging	Het
Sos2	T	G	12: 69,695,315 (GRCm39)	I141L	probably damaging	Het
Srbd1	A	G	17: 86,410,321 (GRCm39)	V537A	probably damaging	Het
Sugp1	A	G	8: 70,509,225 (GRCm39)	E166G	possibly damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tshr	T	C	12: 91,503,955 (GRCm39)	S298P	probably damaging	Het
Tspan14	T	C	14: 40,656,209 (GRCm39)	Y6C	probably damaging	Het
Ttn	A	T	2: 76,577,384 (GRCm39)	V24503E	probably damaging	Het
Vcan	T	A	13: 89,851,045 (GRCm39)	N1305I	probably damaging	Het
Vmn2r81	A	G	10: 79,083,628 (GRCm39)	M1V	probably null	Het
Vps39	A	T	2: 120,148,558 (GRCm39)	V873E	probably damaging	Het
Vstm2a	A	T	11: 16,359,734 (GRCm39)	D270V	unknown	Het
Wdr24	A	T	17: 26,043,240 (GRCm39)	M21L	possibly damaging	Het
Wee1	A	G	7: 109,721,698 (GRCm39)	T48A	probably benign	Het
Zfp369	T	C	13: 65,444,965 (GRCm39)	C703R	probably damaging	Het
Zfp532	A	T	18: 65,818,682 (GRCm39)	D1114V	probably damaging	Het
Zfp758	A	G	17: 22,592,633 (GRCm39)	T46A	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
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

Predicted Primers

PCR Primer
(F):5'- CTCTTAGGTTTTCACTGGCCAGG -3'
(R):5'- ACGCACCATGACATTCAGGC -3'

Sequencing Primer
(F):5'- CAGGCACAGTGTCTGTCTGATC -3'
(R):5'- CATGACATTCAGGCCCTGGTTG -3'

Posted On

2014-07-14