Mutagenetix > Incidental Mutation

Incidental Mutation 'R8473:Adamts15'

657125

Institutional Source

Beutler Lab

Gene Symbol

Adamts15

Ensembl Gene

ENSMUSG00000033453

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 15

Synonyms

MMRRC Submission

067917-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8473 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30810451-30833748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30816085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 625 (T625S)

Ref Sequence

ENSEMBL: ENSMUSP00000067022 (fasta)

Gene Model

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

AlphaFold

P59384

Predicted Effect

probably damaging
Transcript: ENSMUST00000065112
AA Change: T625S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067022
Gene: ENSMUSG00000033453
AA Change: T625S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (33/33)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930583I09Rik	T	C	17: 65,141,513 (GRCm39)	D30G	unknown	Het
Acad12	T	C	5: 121,745,538 (GRCm39)	D251G	probably damaging	Het
Atg13	A	T	2: 91,518,993 (GRCm39)	L151M	probably damaging	Het
Atp5f1a	T	C	18: 77,867,625 (GRCm39)	F250L	probably damaging	Het
Blnk	T	C	19: 40,940,854 (GRCm39)	E183G	possibly damaging	Het
Csf3	T	C	11: 98,592,928 (GRCm39)	L97P	probably damaging	Het
Derl2	A	G	11: 70,910,035 (GRCm39)	Y10H	probably damaging	Het
Dgkb	A	G	12: 38,234,939 (GRCm39)	N435D	probably damaging	Het
Dpy19l2	C	A	9: 24,492,526 (GRCm39)	V691L	probably benign	Het
Exoc5	T	C	14: 49,256,860 (GRCm39)	S509G	probably null	Het
Fancg	A	G	4: 43,004,963 (GRCm39)	I410T	probably damaging	Het
Fsip2	G	A	2: 82,777,336 (GRCm39)	G121D	probably damaging	Het
Gfm1	T	C	3: 67,361,051 (GRCm39)	S458P	possibly damaging	Het
Gm6882	A	T	7: 21,161,440 (GRCm39)	Y143N	probably damaging	Het
Grm5	T	A	7: 87,252,278 (GRCm39)	M176K	probably damaging	Het
Herc6	T	A	6: 57,624,099 (GRCm39)	V623D	probably damaging	Het
Hmcn1	G	T	1: 150,479,551 (GRCm39)	P4638T	possibly damaging	Het
Il27ra	A	G	8: 84,768,735 (GRCm39)	Y62H	probably benign	Het
Kcnh8	A	T	17: 53,285,320 (GRCm39)	S1097C	probably benign	Het
Kif19a	T	G	11: 114,678,377 (GRCm39)	S677A	probably damaging	Het
Lrrc37	T	C	11: 103,434,266 (GRCm39)	T792A	unknown	Het
Or8d4	T	C	9: 40,038,506 (GRCm39)	I250M	probably benign	Het
Pcdhgb7	T	A	18: 37,886,852 (GRCm39)	V674D	probably benign	Het
Pik3r6	A	G	11: 68,417,207 (GRCm39)	S50G	probably benign	Het
Ptpn12	T	C	5: 21,203,357 (GRCm39)	T474A	probably benign	Het
Rbbp6	T	C	7: 122,600,421 (GRCm39)		probably benign	Het
Scaper	T	C	9: 55,458,131 (GRCm39)	Y880C	probably damaging	Het
Smc5	A	T	19: 23,221,446 (GRCm39)	V361D	probably benign	Het
Stag1	T	A	9: 100,762,840 (GRCm39)	H480Q	probably damaging	Het
Tdpoz2	T	C	3: 93,559,153 (GRCm39)	E273G	probably damaging	Het
Tdpoz3	T	A	3: 93,733,870 (GRCm39)	W182R	possibly damaging	Het
Tmx4	T	C	2: 134,451,444 (GRCm39)	T170A	probably benign	Het
Vmn1r59	A	T	7: 5,457,064 (GRCm39)	M232K	possibly damaging	Het
Wdr20rt	A	G	12: 65,273,380 (GRCm39)	D180G	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
R2991:Adamts15	UTSW	9	30,832,690 (GRCm39)	missense	probably benign
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
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'- TGGAGTCAGGAGTACACAGC -3'
(R):5'- CTTTCAGAGCTGGGCATCCTTG -3'

Sequencing Primer
(F):5'- GTACACAGCGTACCATCCAC -3'
(R):5'- CTGGGCATCCTTGGGAGG -3'

Posted On

2021-01-18