Mutagenetix > Incidental Mutation

Incidental Mutation 'R2106:Adamtsl2'

230932

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl2

Ensembl Gene

ENSMUSG00000036040

Gene Name

ADAMTS-like 2

Synonyms

A930008K15Rik

MMRRC Submission

040110-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2106 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26969391-26998993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26992837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 650 (F650S)

Ref Sequence

ENSEMBL: ENSMUSP00000088774 (fasta)

Gene Model

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

AlphaFold

Q7TSK7

Predicted Effect

probably benign
Transcript: ENSMUST00000091233
AA Change: F650S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: F650S

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

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.2%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akr1c13	T	A	13: 4,248,593 (GRCm39)	V266E	probably damaging	Het
Ankrd61	A	T	5: 143,828,564 (GRCm39)	L95Q	probably damaging	Het
Atp11a	A	G	8: 12,885,228 (GRCm39)	T22A	probably benign	Het
Brca1	A	G	11: 101,415,803 (GRCm39)	V777A	possibly damaging	Het
Ccdc40	G	T	11: 119,155,123 (GRCm39)	R1121L	probably damaging	Het
Cdhr4	A	C	9: 107,874,693 (GRCm39)	S588R	possibly damaging	Het
Cfap69	T	C	5: 5,645,979 (GRCm39)	N517D	probably benign	Het
Chrm2	T	C	6: 36,500,382 (GRCm39)	Y80H	probably damaging	Het
Cimip2a	A	G	2: 25,110,663 (GRCm39)	Y157C	probably damaging	Het
Csgalnact2	G	T	6: 118,086,090 (GRCm39)	Y534*	probably null	Het
Defb35	A	G	8: 22,430,809 (GRCm39)	E61G	unknown	Het
Dhx15	A	T	5: 52,327,428 (GRCm39)	D95E	probably benign	Het
Dhx57	A	G	17: 80,582,792 (GRCm39)	V271A	probably damaging	Het
Dlg1	T	C	16: 31,631,574 (GRCm39)	S444P	probably damaging	Het
Edem1	T	A	6: 108,825,686 (GRCm39)	N406K	probably damaging	Het
Eif4g3	A	T	4: 137,810,230 (GRCm39)		probably benign	Het
Epb41	A	G	4: 131,717,152 (GRCm39)	I56T	probably damaging	Het
Epg5	T	A	18: 78,034,578 (GRCm39)	Y1442*	probably null	Het
Fat2	T	C	11: 55,147,390 (GRCm39)	T3951A	probably benign	Het
Fryl	A	G	5: 73,255,674 (GRCm39)	S786P	probably damaging	Het
Fyb2	A	G	4: 104,802,769 (GRCm39)	T224A	probably benign	Het
Ginm1	A	T	10: 7,651,090 (GRCm39)	F105L	probably damaging	Het
Heatr1	T	C	13: 12,426,939 (GRCm39)	V688A	probably benign	Het
Hnmt	T	G	2: 23,909,130 (GRCm39)	Q94H	probably benign	Het
Ice1	A	G	13: 70,753,741 (GRCm39)	Y782H	probably benign	Het
Immt	T	C	6: 71,848,499 (GRCm39)	V418A	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Krt84	T	C	15: 101,439,301 (GRCm39)	N248D	probably damaging	Het
Lig1	C	A	7: 13,039,863 (GRCm39)	R692S	probably damaging	Het
Lvrn	G	T	18: 47,011,356 (GRCm39)	A438S	probably damaging	Het
Mast4	C	T	13: 102,887,054 (GRCm39)	V1204I	probably damaging	Het
Med21	G	T	6: 146,550,710 (GRCm39)	D74Y	probably damaging	Het
Nat8	T	C	6: 85,807,506 (GRCm39)	D209G	probably benign	Het
Nipal1	C	A	5: 72,820,902 (GRCm39)	F132L	probably damaging	Het
Npr2	A	T	4: 43,644,329 (GRCm39)	I613F	probably damaging	Het
Nrcam	A	G	12: 44,617,073 (GRCm39)	T706A	probably benign	Het
Or5w1b	A	G	2: 87,475,895 (GRCm39)	S191P	probably damaging	Het
Or8w1	T	C	2: 87,465,503 (GRCm39)	E196G	probably benign	Het
Pam	A	G	1: 97,759,215 (GRCm39)	V823A	probably damaging	Het
Pdik1l	A	T	4: 134,011,565 (GRCm39)	Y93N	probably damaging	Het
Perm1	T	C	4: 156,303,336 (GRCm39)	W627R	probably damaging	Het
Pofut1	G	A	2: 153,101,713 (GRCm39)		probably null	Het
Prmt5	T	C	14: 54,745,374 (GRCm39)	I598V	probably benign	Het
Rab11fip5	T	C	6: 85,351,369 (GRCm39)	I48V	probably damaging	Het
Rad51d	T	A	11: 82,770,134 (GRCm39)	K261N	probably damaging	Het
Rapgef6	T	G	11: 54,559,512 (GRCm39)	I1050S	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,468,474 (GRCm39)	E4688G	probably damaging	Het
Siva1	G	T	12: 112,613,440 (GRCm39)	R96L	probably damaging	Het
Slc13a4	T	C	6: 35,264,799 (GRCm39)	N140S	probably damaging	Het
Slc26a5	T	A	5: 22,028,542 (GRCm39)	D342V	probably damaging	Het
Slfn9	A	G	11: 82,878,506 (GRCm39)	S208P	possibly damaging	Het
Sspo	C	A	6: 48,443,250 (GRCm39)	T1899N	possibly damaging	Het
Sytl1	T	C	4: 132,984,774 (GRCm39)	D200G	probably benign	Het
Tas2r118	T	C	6: 23,969,569 (GRCm39)	N164S	probably benign	Het
Tbc1d17	A	G	7: 44,497,692 (GRCm39)		probably null	Het
Tex14	T	C	11: 87,377,076 (GRCm39)	M140T	possibly damaging	Het
Tm6sf2	T	C	8: 70,532,396 (GRCm39)	F352S	probably benign	Het
Tmem88	A	G	11: 69,288,685 (GRCm39)	L78P	probably benign	Het
Trafd1	A	G	5: 121,511,274 (GRCm39)	S515P	probably benign	Het
Trpm6	A	T	19: 18,790,714 (GRCm39)	E583V	possibly damaging	Het
Ttc23l	A	G	15: 10,547,342 (GRCm39)	C91R	probably damaging	Het
Ubap1l	T	C	9: 65,281,089 (GRCm39)	S256P	probably benign	Het
Vmn1r26	T	G	6: 57,985,710 (GRCm39)	S160R	possibly damaging	Het
Vmn2r97	A	G	17: 19,168,100 (GRCm39)	S785G	probably damaging	Het
Wdr27	T	G	17: 15,141,116 (GRCm39)	R278S	probably benign	Het
Wdr7	T	C	18: 63,911,109 (GRCm39)	S834P	probably damaging	Het
Zdhhc12	C	T	2: 29,981,814 (GRCm39)	C116Y	probably damaging	Het
Zfp946	T	C	17: 22,672,466 (GRCm39)	F22L	probably benign	Het
Zfp948	G	T	17: 21,807,953 (GRCm39)	E382*	probably null	Het
Zfp956	T	A	6: 47,941,359 (GRCm39)	*573K	probably null	Het
Zim1	T	G	7: 6,681,073 (GRCm39)	T197P	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
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'- ACACTGGGTTAACATGGGC -3'
(R):5'- GTGCACTACGAGGAAGTCAG -3'

Sequencing Primer
(F):5'- CTGGGTTAACATGGGCACAGTC -3'
(R):5'- ACCCCAGCGTCTGTAGATG -3'

Posted On

2014-09-18