Mutagenetix > Incidental Mutation

Incidental Mutation 'R2991:Adamts15'

257905

Institutional Source

Beutler Lab

Gene Symbol

Adamts15

Ensembl Gene

ENSMUSG00000033453

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 15

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2991 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30810451-30833748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30832690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 282 (T282S)

Ref Sequence

ENSEMBL: ENSMUSP00000067022 (fasta)

Gene Model

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

AlphaFold

P59384

Predicted Effect

probably benign
Transcript: ENSMUST00000065112
AA Change: T282S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067022
Gene: ENSMUSG00000033453
AA Change: T282S

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic2	C	A	11: 81,858,863 (GRCm39)	V50L	probably benign	Het
Cdadc1	T	C	14: 59,823,521 (GRCm39)	M324V	possibly damaging	Het
Cdcp3	A	T	7: 130,848,429 (GRCm39)	D861V	probably damaging	Het
Col12a1	A	T	9: 79,607,547 (GRCm39)	V427D	probably damaging	Het
Col3a1	C	A	1: 45,374,939 (GRCm39)		probably benign	Het
Esp24	A	T	17: 39,350,894 (GRCm39)	E31D	possibly damaging	Het
Igkv14-100	T	A	6: 68,496,335 (GRCm39)	L76*	probably null	Het
Itsn2	T	C	12: 4,708,474 (GRCm39)	V843A	probably benign	Het
Llgl2	T	C	11: 115,741,946 (GRCm39)	S663P	probably benign	Het
Lsg1	T	C	16: 30,380,547 (GRCm39)	N630S	probably damaging	Het
Lypd8l	C	T	11: 58,501,516 (GRCm39)	V156I	possibly damaging	Het
Msh4	A	G	3: 153,611,497 (GRCm39)	V42A	probably benign	Het
Nkx6-1	T	C	5: 101,807,401 (GRCm39)	Y327C	probably damaging	Het
Or9i1b	G	A	19: 13,896,675 (GRCm39)	C97Y	probably damaging	Het
Pde4a	T	C	9: 21,114,539 (GRCm39)	S369P	probably damaging	Het
Pkdrej	T	C	15: 85,704,137 (GRCm39)	I600V	probably benign	Het
Plekhg6	T	C	6: 125,347,432 (GRCm39)	E479G	probably damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rgmb	A	T	17: 16,041,352 (GRCm39)	D78E	probably damaging	Het
Samd12	C	T	15: 53,723,592 (GRCm39)	E34K	probably damaging	Het
Slc22a21	T	G	11: 53,850,195 (GRCm39)	E220A	probably damaging	Het
Smc6	A	G	12: 11,339,982 (GRCm39)	E430G	probably damaging	Het
Snx15	C	A	19: 6,171,515 (GRCm39)	L186F	probably damaging	Het
Tiam2	A	G	17: 3,568,525 (GRCm39)	E1557G	probably benign	Het
Vwa8	A	T	14: 79,232,589 (GRCm39)	T644S	probably benign	Het
Zcchc4	T	A	5: 52,961,780 (GRCm39)	F247Y	probably damaging	Het
Zmynd11	A	G	13: 9,745,858 (GRCm39)	V165A	probably damaging	Het

Other mutations in Adamts15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Adamts15	APN	9	30,813,349 (GRCm39)	missense	probably damaging	1.00
IGL01325:Adamts15	APN	9	30,832,984 (GRCm39)	missense	possibly damaging	0.86
IGL01506:Adamts15	APN	9	30,833,430 (GRCm39)	missense	probably benign	0.08
IGL01897:Adamts15	APN	9	30,813,448 (GRCm39)	missense	probably damaging	1.00
IGL02137:Adamts15	APN	9	30,821,956 (GRCm39)	missense	probably damaging	1.00
IGL02876:Adamts15	APN	9	30,815,818 (GRCm39)	missense	probably damaging	0.98
IGL02997:Adamts15	APN	9	30,817,353 (GRCm39)	splice site	probably benign
IGL03094:Adamts15	APN	9	30,815,768 (GRCm39)	splice site	probably benign
IGL03146:Adamts15	APN	9	30,832,863 (GRCm39)	missense	probably damaging	0.99
IGL03241:Adamts15	APN	9	30,815,781 (GRCm39)	missense	probably damaging	1.00
Awareness	UTSW	9	30,822,404 (GRCm39)	critical splice donor site	probably null
heightened	UTSW	9	30,816,066 (GRCm39)	missense	probably damaging	1.00
Pugsley	UTSW	9	30,817,454 (GRCm39)	missense	probably damaging	1.00
sparticus	UTSW	9	30,821,898 (GRCm39)	missense	probably benign	0.40
R0118:Adamts15	UTSW	9	30,823,040 (GRCm39)	missense	probably damaging	1.00
R0635:Adamts15	UTSW	9	30,816,066 (GRCm39)	missense	probably damaging	1.00
R0827:Adamts15	UTSW	9	30,832,776 (GRCm39)	missense	probably damaging	1.00
R0946:Adamts15	UTSW	9	30,813,493 (GRCm39)	missense	probably damaging	1.00
R1608:Adamts15	UTSW	9	30,813,775 (GRCm39)	missense	probably damaging	0.99
R1806:Adamts15	UTSW	9	30,816,111 (GRCm39)	missense	probably damaging	1.00
R1954:Adamts15	UTSW	9	30,822,004 (GRCm39)	missense	probably benign
R1967:Adamts15	UTSW	9	30,832,605 (GRCm39)	nonsense	probably null
R2009:Adamts15	UTSW	9	30,833,433 (GRCm39)	missense	probably benign	0.17
R2129:Adamts15	UTSW	9	30,815,799 (GRCm39)	missense	probably benign	0.05
R2329:Adamts15	UTSW	9	30,813,781 (GRCm39)	missense	probably damaging	1.00
R3970:Adamts15	UTSW	9	30,821,898 (GRCm39)	missense	probably benign	0.40
R4212:Adamts15	UTSW	9	30,817,470 (GRCm39)	missense	probably damaging	0.99
R4326:Adamts15	UTSW	9	30,815,814 (GRCm39)	missense	probably benign
R4329:Adamts15	UTSW	9	30,815,814 (GRCm39)	missense	probably benign
R4594:Adamts15	UTSW	9	30,832,743 (GRCm39)	missense	probably damaging	0.99
R5110:Adamts15	UTSW	9	30,832,740 (GRCm39)	missense	probably benign	0.01
R5120:Adamts15	UTSW	9	30,832,872 (GRCm39)	missense	probably damaging	1.00
R5697:Adamts15	UTSW	9	30,823,090 (GRCm39)	missense	probably damaging	1.00
R5901:Adamts15	UTSW	9	30,813,786 (GRCm39)	missense	probably damaging	1.00
R6011:Adamts15	UTSW	9	30,814,082 (GRCm39)	missense	probably damaging	0.98
R6020:Adamts15	UTSW	9	30,813,358 (GRCm39)	missense	probably benign	0.03
R6651:Adamts15	UTSW	9	30,833,448 (GRCm39)	missense	probably damaging	0.98
R6665:Adamts15	UTSW	9	30,815,775 (GRCm39)	critical splice donor site	probably null
R7021:Adamts15	UTSW	9	30,832,776 (GRCm39)	missense	probably damaging	1.00
R7231:Adamts15	UTSW	9	30,817,454 (GRCm39)	missense	probably damaging	1.00
R7290:Adamts15	UTSW	9	30,813,906 (GRCm39)	missense	probably benign	0.05
R7390:Adamts15	UTSW	9	30,822,404 (GRCm39)	critical splice donor site	probably null
R7798:Adamts15	UTSW	9	30,815,939 (GRCm39)	missense	probably damaging	1.00
R7833:Adamts15	UTSW	9	30,833,401 (GRCm39)	missense	probably benign
R7908:Adamts15	UTSW	9	30,813,522 (GRCm39)	missense	probably benign
R8175:Adamts15	UTSW	9	30,815,952 (GRCm39)	missense	probably damaging	1.00
R8177:Adamts15	UTSW	9	30,833,322 (GRCm39)	missense	probably damaging	1.00
R8347:Adamts15	UTSW	9	30,813,846 (GRCm39)	missense	probably benign	0.07
R8348:Adamts15	UTSW	9	30,813,846 (GRCm39)	missense	probably benign	0.07
R8374:Adamts15	UTSW	9	30,814,002 (GRCm39)	missense	probably benign	0.21
R8473:Adamts15	UTSW	9	30,816,085 (GRCm39)	missense	probably damaging	1.00
R8680:Adamts15	UTSW	9	30,823,055 (GRCm39)	missense	possibly damaging	0.57
R9113:Adamts15	UTSW	9	30,822,498 (GRCm39)	missense	probably damaging	1.00
R9336:Adamts15	UTSW	9	30,816,085 (GRCm39)	missense	probably damaging	1.00
R9381:Adamts15	UTSW	9	30,813,816 (GRCm39)	missense	probably damaging	0.99
X0063:Adamts15	UTSW	9	30,833,526 (GRCm39)	missense	possibly damaging	0.96
X0067:Adamts15	UTSW	9	30,832,878 (GRCm39)	missense	probably damaging	1.00
Z1176:Adamts15	UTSW	9	30,821,996 (GRCm39)	missense	probably damaging	1.00
Z1177:Adamts15	UTSW	9	30,813,787 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGGGCTTTGGAGATCTAAAC -3'
(R):5'- GCTTCGTGTCTATACCACGG -3'

Sequencing Primer
(F):5'- GGGCTTTGGAGATCTAAACTCAATG -3'
(R):5'- GACGAGTCAATGGTCAAGT -3'

Posted On

2015-01-11