Mutagenetix > Incidental Mutations

Incidental Mutation 'R4594:Adamts15'

344261

Institutional Source

Beutler Lab

Gene Symbol

Adamts15

Ensembl Gene

ENSMUSG00000033453

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 15

Synonyms

MMRRC Submission

041810-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30899155-30922452 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30921447 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 264 (I264N)

Ref Sequence

ENSEMBL: ENSMUSP00000067022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065112] [ENSMUST00000216215]

AlphaFold

P59384

Predicted Effect

probably damaging
Transcript: ENSMUST00000065112
AA Change: I264N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067022
Gene: ENSMUSG00000033453
AA Change: I264N

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Pep_M12B_propep	24	157	8.7e-27	PFAM
Pfam:Reprolysin_4	216	422	8.2e-7	PFAM
Pfam:Reprolysin_5	217	404	7.2e-13	PFAM
Pfam:Reprolysin	218	427	3.7e-20	PFAM
Pfam:Reprolysin_3	240	372	6.1e-10	PFAM
Blast:ACR	429	507	1e-25	BLAST
TSP1	519	571	7.85e-12	SMART
Pfam:ADAM_spacer1	683	801	7.1e-36	PFAM
TSP1	842	895	3e-8	SMART
TSP1	896	949	4.21e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000216215

Meta Mutation Damage Score

0.6506

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active versicanase enzyme. This gene is located adjacent to a related ADAMTS gene (Adamts8) on chromosome 9. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,575,754	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,860,538	T82S	possibly damaging	Het
Alpk1	G	A	3: 127,683,554	A285V	probably damaging	Het
Auh	T	C	13: 52,912,966		probably benign	Het
BC030499	T	A	11: 78,291,647	V94D	possibly damaging	Het
Cacna2d3	A	G	14: 28,982,346	F826S	probably benign	Het
Ccdc54	G	T	16: 50,590,017	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079	V551I	probably benign	Het
Diaph3	C	T	14: 86,986,037	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842		probably benign	Het
Dscam	A	T	16: 96,717,996	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186	E196G	probably benign	Het
Gsk3b	G	A	16: 38,170,701	C107Y	possibly damaging	Het
H2-M5	T	C	17: 36,987,805	T250A	possibly damaging	Het
Il17f	T	A	1: 20,777,802	T151S	probably damaging	Het
Ints12	A	G	3: 133,108,868	N279D	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321	T226I	probably benign	Het
Mael	T	A	1: 166,235,487	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652	R49S	probably benign	Het
Meioc	G	T	11: 102,674,166	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,392,847		probably null	Het
Nfe2	A	G	15: 103,248,805	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489	I478T	probably benign	Het
Nxpe2	T	C	9: 48,319,482	D529G	probably damaging	Het
Oard1	T	C	17: 48,415,239	S88P	possibly damaging	Het
Olfr1370	C	T	13: 21,072,522	V260I	probably benign	Het
Olfr231	G	T	1: 174,117,320	T232N	probably damaging	Het
Olfr639	T	C	7: 104,012,417	D95G	probably benign	Het
Olfr678	T	C	7: 105,069,590	V41A	probably benign	Het
Olfr732	G	A	14: 50,281,683	T190I	probably benign	Het
Olfr741	A	G	14: 50,486,162	R235G	probably benign	Het
Olfr906	A	C	9: 38,488,761	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253	T262I	possibly damaging	Het
Plcb4	A	T	2: 136,002,599	M146L	probably damaging	Het
Prkdc	A	T	16: 15,767,966	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671		probably benign	Het
Rad51ap2	T	C	12: 11,457,880	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,394,567	N139K	probably damaging	Het
Rexo2	A	T	9: 48,480,417	V46E	probably damaging	Het
Slmap	A	T	14: 26,465,617	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662	D548V	probably damaging	Het
Wdr81	T	C	11: 75,445,794	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,429,042	N291K	possibly damaging	Het
Zfp119a	G	A	17: 55,866,325	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182	L335P	probably damaging	Het

Other mutations in Adamts15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Adamts15	APN	9	30902053	missense	probably damaging	1.00
IGL01325:Adamts15	APN	9	30921688	missense	possibly damaging	0.86
IGL01506:Adamts15	APN	9	30922134	missense	probably benign	0.08
IGL01897:Adamts15	APN	9	30902152	missense	probably damaging	1.00
IGL02137:Adamts15	APN	9	30910660	missense	probably damaging	1.00
IGL02876:Adamts15	APN	9	30904522	missense	probably damaging	0.98
IGL02997:Adamts15	APN	9	30906057	splice site	probably benign
IGL03094:Adamts15	APN	9	30904472	splice site	probably benign
IGL03146:Adamts15	APN	9	30921567	missense	probably damaging	0.99
IGL03241:Adamts15	APN	9	30904485	missense	probably damaging	1.00
Awareness	UTSW	9	30911108	critical splice donor site	probably null
heightened	UTSW	9	30904770	missense	probably damaging	1.00
Pugsley	UTSW	9	30906158	missense	probably damaging	1.00
sparticus	UTSW	9	30910602	missense	probably benign	0.40
R0118:Adamts15	UTSW	9	30911744	missense	probably damaging	1.00
R0635:Adamts15	UTSW	9	30904770	missense	probably damaging	1.00
R0827:Adamts15	UTSW	9	30921480	missense	probably damaging	1.00
R0946:Adamts15	UTSW	9	30902197	missense	probably damaging	1.00
R1608:Adamts15	UTSW	9	30902479	missense	probably damaging	0.99
R1806:Adamts15	UTSW	9	30904815	missense	probably damaging	1.00
R1954:Adamts15	UTSW	9	30910708	missense	probably benign
R1967:Adamts15	UTSW	9	30921309	nonsense	probably null
R2009:Adamts15	UTSW	9	30922137	missense	probably benign	0.17
R2129:Adamts15	UTSW	9	30904503	missense	probably benign	0.05
R2329:Adamts15	UTSW	9	30902485	missense	probably damaging	1.00
R2991:Adamts15	UTSW	9	30921394	missense	probably benign
R3970:Adamts15	UTSW	9	30910602	missense	probably benign	0.40
R4212:Adamts15	UTSW	9	30906174	missense	probably damaging	0.99
R4326:Adamts15	UTSW	9	30904518	missense	probably benign
R4329:Adamts15	UTSW	9	30904518	missense	probably benign
R5110:Adamts15	UTSW	9	30921444	missense	probably benign	0.01
R5120:Adamts15	UTSW	9	30921576	missense	probably damaging	1.00
R5697:Adamts15	UTSW	9	30911794	missense	probably damaging	1.00
R5901:Adamts15	UTSW	9	30902490	missense	probably damaging	1.00
R6011:Adamts15	UTSW	9	30902786	missense	probably damaging	0.98
R6020:Adamts15	UTSW	9	30902062	missense	probably benign	0.03
R6651:Adamts15	UTSW	9	30922152	missense	probably damaging	0.98
R6665:Adamts15	UTSW	9	30904479	critical splice donor site	probably null
R7021:Adamts15	UTSW	9	30921480	missense	probably damaging	1.00
R7231:Adamts15	UTSW	9	30906158	missense	probably damaging	1.00
R7290:Adamts15	UTSW	9	30902610	missense	probably benign	0.05
R7390:Adamts15	UTSW	9	30911108	critical splice donor site	probably null
R7798:Adamts15	UTSW	9	30904643	missense	probably damaging	1.00
R7833:Adamts15	UTSW	9	30922105	missense	probably benign
R7908:Adamts15	UTSW	9	30902226	missense	probably benign
R8175:Adamts15	UTSW	9	30904656	missense	probably damaging	1.00
R8177:Adamts15	UTSW	9	30922026	missense	probably damaging	1.00
R8347:Adamts15	UTSW	9	30902550	missense	probably benign	0.07
R8348:Adamts15	UTSW	9	30902550	missense	probably benign	0.07
R8374:Adamts15	UTSW	9	30902706	missense	probably benign	0.21
R8473:Adamts15	UTSW	9	30904789	missense	probably damaging	1.00
R8680:Adamts15	UTSW	9	30911759	missense	possibly damaging	0.57
R9113:Adamts15	UTSW	9	30911202	missense	probably damaging	1.00
R9336:Adamts15	UTSW	9	30904789	missense	probably damaging	1.00
R9381:Adamts15	UTSW	9	30902520	missense	probably damaging	0.99
X0063:Adamts15	UTSW	9	30922230	missense	possibly damaging	0.96
X0067:Adamts15	UTSW	9	30921582	missense	probably damaging	1.00
Z1176:Adamts15	UTSW	9	30910700	missense	probably damaging	1.00
Z1177:Adamts15	UTSW	9	30902491	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGTCTGGTGAAGAGGATG -3'
(R):5'- CTGAGGGCTCTGGACCCTTATAAG -3'

Sequencing Primer
(F):5'- ATGGCTGTGTCCCAGTACTCAG -3'
(R):5'- TCTGGACCCTTATAAGCCACGG -3'

Posted On

2015-09-25