Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03295:Adamts5'

416045

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts5

Ensembl Gene

ENSMUSG00000022894

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 5

Synonyms

ADAM-TS5, 9530092O11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

IGL03295

Quality Score

Status

Chromosome

Chromosomal Location

85655045-85698013 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85674833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 444 (T444A)

Ref Sequence

ENSEMBL: ENSMUSP00000023611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023611]

AlphaFold

Q9R001

Predicted Effect

probably damaging
Transcript: ENSMUST00000023611
AA Change: T444A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023611
Gene: ENSMUSG00000022894
AA Change: T444A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	41	182	9.1e-18	PFAM
low complexity region	226	232	N/A	INTRINSIC
Pfam:Reprolysin_5	265	450	2.1e-16	PFAM
Pfam:Reprolysin_4	265	472	4.8e-14	PFAM
Pfam:Reprolysin	267	476	4.6e-26	PFAM
Pfam:Reprolysin_2	286	466	3.7e-13	PFAM
Pfam:Reprolysin_3	288	421	6.9e-17	PFAM
Blast:ACR	477	555	4e-15	BLAST
low complexity region	556	566	N/A	INTRINSIC
TSP1	570	622	6.04e-13	SMART
Pfam:ADAM_spacer1	732	852	1.7e-35	PFAM
TSP1	878	926	7.12e-2	SMART

Coding Region Coverage

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, zinc-dependent aggrecanase enzyme. Mice lacking the encoded protein are protected from surgery-induced osteoarthritis and antigen-induced arthritis. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for one null allele exhibit a significant reduction in cartilage degradation after induction of osteoarthritis whereas those homozygous for another show no affect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,390,915 (GRCm39)		probably benign	Het
Aldh18a1	T	C	19: 40,551,386 (GRCm39)	E522G	probably damaging	Het
Bbx	T	C	16: 50,044,927 (GRCm39)	T437A	probably damaging	Het
Bsx	A	G	9: 40,785,743 (GRCm39)		probably benign	Het
Cdc42bpa	A	G	1: 179,977,769 (GRCm39)	N729S	probably benign	Het
Cdk1	G	T	10: 69,178,373 (GRCm39)	H162Q	possibly damaging	Het
Chrac1	A	G	15: 72,965,445 (GRCm39)		probably benign	Het
Cip2a	T	C	16: 48,814,704 (GRCm39)	S22P	probably damaging	Het
Ddx60	A	T	8: 62,409,155 (GRCm39)	D397V	possibly damaging	Het
Edn2	T	A	4: 120,019,178 (GRCm39)	C56S	probably damaging	Het
Gm4952	T	C	19: 12,595,691 (GRCm39)	V27A	probably benign	Het
Herc1	T	A	9: 66,303,985 (GRCm39)	S763T	possibly damaging	Het
Hspd1	G	A	1: 55,119,334 (GRCm39)	T381I	probably benign	Het
Krt1c	T	A	15: 101,724,864 (GRCm39)	I249F	probably damaging	Het
Lman2l	T	C	1: 36,477,892 (GRCm39)	D148G	probably damaging	Het
Lrp1b	C	T	2: 40,568,999 (GRCm39)		probably null	Het
Mier3	C	A	13: 111,840,215 (GRCm39)	T51K	probably benign	Het
Ppp1r36	C	T	12: 76,485,192 (GRCm39)	P305L	probably damaging	Het
Pramel27	G	A	4: 143,579,759 (GRCm39)	C448Y	probably damaging	Het
Prdm1	T	C	10: 44,315,866 (GRCm39)	I790V	probably damaging	Het
Sephs2	T	C	7: 126,871,941 (GRCm39)	E384G	possibly damaging	Het
Sipa1l1	T	A	12: 82,479,714 (GRCm39)	W1466R	probably damaging	Het
Snai2	T	C	16: 14,524,638 (GRCm39)	L48P	possibly damaging	Het
Stt3a	A	G	9: 36,674,627 (GRCm39)		probably null	Het
Synj1	T	A	16: 90,735,318 (GRCm39)	N1545I	probably benign	Het
Vav2	A	T	2: 27,165,041 (GRCm39)	S607T	possibly damaging	Het
Wdr27	T	C	17: 15,154,837 (GRCm39)	K27E	possibly damaging	Het
Xcl1	A	T	1: 164,763,004 (GRCm39)	V19E	unknown	Het
Xlr3c	A	T	X: 72,301,240 (GRCm39)		probably null	Het
Zbtb44	T	A	9: 30,964,753 (GRCm39)	D54E	probably benign	Het
Zscan21	A	G	5: 138,123,540 (GRCm39)	D73G	possibly damaging	Het

Other mutations in Adamts5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Adamts5	APN	16	85,696,722 (GRCm39)	missense	probably damaging	1.00
IGL01070:Adamts5	APN	16	85,660,021 (GRCm39)	missense	probably damaging	1.00
IGL01321:Adamts5	APN	16	85,696,363 (GRCm39)	missense	probably benign	0.03
IGL01616:Adamts5	APN	16	85,684,702 (GRCm39)	splice site	probably null
IGL02551:Adamts5	APN	16	85,666,926 (GRCm39)	missense	possibly damaging	0.71
IGL03263:Adamts5	APN	16	85,666,830 (GRCm39)	missense	probably damaging	0.99
IGL03393:Adamts5	APN	16	85,665,083 (GRCm39)	missense	probably damaging	0.99
IGL03403:Adamts5	APN	16	85,659,902 (GRCm39)	missense	probably damaging	0.97
R0414:Adamts5	UTSW	16	85,674,794 (GRCm39)	missense	probably damaging	1.00
R0419:Adamts5	UTSW	16	85,663,530 (GRCm39)	missense	probably benign	0.00
R0539:Adamts5	UTSW	16	85,665,580 (GRCm39)	missense	probably damaging	1.00
R0570:Adamts5	UTSW	16	85,696,135 (GRCm39)	missense	probably damaging	1.00
R0574:Adamts5	UTSW	16	85,696,372 (GRCm39)	missense	probably damaging	0.99
R0669:Adamts5	UTSW	16	85,696,614 (GRCm39)	missense	probably benign	0.45
R1454:Adamts5	UTSW	16	85,666,881 (GRCm39)	missense	possibly damaging	0.88
R1498:Adamts5	UTSW	16	85,696,990 (GRCm39)	missense	possibly damaging	0.63
R1729:Adamts5	UTSW	16	85,674,803 (GRCm39)	nonsense	probably null
R1753:Adamts5	UTSW	16	85,696,240 (GRCm39)	missense	probably damaging	1.00
R1784:Adamts5	UTSW	16	85,674,803 (GRCm39)	nonsense	probably null
R1906:Adamts5	UTSW	16	85,665,573 (GRCm39)	nonsense	probably null
R1946:Adamts5	UTSW	16	85,696,131 (GRCm39)	missense	probably damaging	1.00
R2180:Adamts5	UTSW	16	85,684,812 (GRCm39)	missense	probably damaging	1.00
R2223:Adamts5	UTSW	16	85,696,194 (GRCm39)	missense	probably damaging	1.00
R2366:Adamts5	UTSW	16	85,659,646 (GRCm39)	missense	probably damaging	1.00
R3889:Adamts5	UTSW	16	85,665,009 (GRCm39)	missense	probably damaging	1.00
R4214:Adamts5	UTSW	16	85,665,531 (GRCm39)	missense	probably damaging	1.00
R4909:Adamts5	UTSW	16	85,696,954 (GRCm39)	nonsense	probably null
R5119:Adamts5	UTSW	16	85,696,466 (GRCm39)	missense	probably benign	0.00
R5230:Adamts5	UTSW	16	85,666,956 (GRCm39)	missense	probably damaging	0.97
R5452:Adamts5	UTSW	16	85,666,800 (GRCm39)	critical splice donor site	probably benign
R5652:Adamts5	UTSW	16	85,696,156 (GRCm39)	missense	probably damaging	1.00
R5831:Adamts5	UTSW	16	85,665,006 (GRCm39)	missense	probably damaging	1.00
R6045:Adamts5	UTSW	16	85,696,188 (GRCm39)	missense	probably damaging	0.99
R6259:Adamts5	UTSW	16	85,696,641 (GRCm39)	missense	probably benign	0.03
R6384:Adamts5	UTSW	16	85,659,716 (GRCm39)	missense	probably benign	0.00
R6724:Adamts5	UTSW	16	85,665,445 (GRCm39)	missense	probably benign	0.06
R6829:Adamts5	UTSW	16	85,666,959 (GRCm39)	missense	possibly damaging	0.52
R7066:Adamts5	UTSW	16	85,659,652 (GRCm39)	missense	probably damaging	1.00
R7256:Adamts5	UTSW	16	85,659,923 (GRCm39)	missense	probably damaging	1.00
R7293:Adamts5	UTSW	16	85,696,833 (GRCm39)	missense	probably benign	0.10
R7298:Adamts5	UTSW	16	85,696,806 (GRCm39)	missense	probably benign	0.35
R7384:Adamts5	UTSW	16	85,696,714 (GRCm39)	missense	probably benign	0.02
R7452:Adamts5	UTSW	16	85,674,869 (GRCm39)	missense	probably benign	0.00
R7727:Adamts5	UTSW	16	85,696,854 (GRCm39)	missense	probably damaging	1.00
R7785:Adamts5	UTSW	16	85,659,892 (GRCm39)	missense	probably damaging	0.99
R7894:Adamts5	UTSW	16	85,674,808 (GRCm39)	nonsense	probably null
R8111:Adamts5	UTSW	16	85,696,203 (GRCm39)	missense	probably damaging	1.00
R8370:Adamts5	UTSW	16	85,696,881 (GRCm39)	missense	possibly damaging	0.74
R8413:Adamts5	UTSW	16	85,663,506 (GRCm39)	critical splice donor site	probably null
R8505:Adamts5	UTSW	16	85,696,944 (GRCm39)	missense	probably benign	0.42
R8804:Adamts5	UTSW	16	85,666,800 (GRCm39)	critical splice donor site	probably benign
R9209:Adamts5	UTSW	16	85,666,971 (GRCm39)	missense	probably damaging	1.00
R9455:Adamts5	UTSW	16	85,667,017 (GRCm39)	missense	probably damaging	0.99
R9616:Adamts5	UTSW	16	85,659,674 (GRCm39)	missense	probably benign	0.34
X0062:Adamts5	UTSW	16	85,660,045 (GRCm39)	missense	probably damaging	1.00
Z1177:Adamts5	UTSW	16	85,666,962 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02