Mutagenetix > Incidental Mutation

Incidental Mutation 'R7452:Adamts5'

577831

Institutional Source

Beutler Lab

Gene Symbol

Adamts5

Ensembl Gene

ENSMUSG00000022894

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 5

Synonyms

ADAM-TS5, 9530092O11Rik

MMRRC Submission

045526-MU

Accession Numbers

Essential gene?

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

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85655045-85698013 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85674869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 432 (T432S)

Ref Sequence

ENSEMBL: ENSMUSP00000023611 (fasta)

Gene Model

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

AlphaFold

Q9R001

Predicted Effect

probably benign
Transcript: ENSMUST00000023611
AA Change: T432S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023611
Gene: ENSMUSG00000022894
AA Change: T432S

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,618,291 (GRCm39)	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,190,897 (GRCm39)	G249R	probably damaging	Het
Actn1	T	C	12: 80,230,376 (GRCm39)	T293A	probably benign	Het
Adh5	A	G	3: 138,160,506 (GRCm39)	T347A	probably benign	Het
Agbl5	A	G	5: 31,050,735 (GRCm39)	D432G	probably damaging	Het
Ank3	A	G	10: 69,734,881 (GRCm39)	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,885,724 (GRCm39)	V743G	probably benign	Het
Arap2	A	T	5: 62,833,892 (GRCm39)	S858R	probably benign	Het
Arid1a	A	C	4: 133,480,438 (GRCm39)	V162G	possibly damaging	Het
Armc9	A	G	1: 86,140,814 (GRCm39)	D588G	possibly damaging	Het
Art3	A	G	5: 92,540,539 (GRCm39)	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,946,527 (GRCm39)	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,075 (GRCm39)	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,717,596 (GRCm39)	L469P	probably damaging	Het
Celsr2	T	A	3: 108,320,406 (GRCm39)	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,452,981 (GRCm39)	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731 (GRCm39)	D2024A	probably benign	Het
Corin	T	A	5: 72,592,590 (GRCm39)	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,184,795 (GRCm39)	I359F	probably damaging	Het
Defb6	T	C	8: 19,275,540 (GRCm39)	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,686,196 (GRCm39)	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,866,664 (GRCm39)	F682S	probably damaging	Het
Enpep	T	A	3: 129,065,052 (GRCm39)	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,730,132 (GRCm39)	N462S	probably damaging	Het
Ephb3	T	C	16: 21,036,107 (GRCm39)		probably null	Het
F7	C	T	8: 13,085,215 (GRCm39)	H414Y	probably benign	Het
Fbn1	T	C	2: 125,347,375 (GRCm39)	H50R	possibly damaging	Het
Fig4	T	C	10: 41,116,633 (GRCm39)	D586G	possibly damaging	Het
Fryl	A	G	5: 73,181,331 (GRCm39)	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,800,240 (GRCm39)	H30Q	possibly damaging	Het
Garre1	A	G	7: 33,945,096 (GRCm39)	S595P	probably benign	Het
Gm12886	G	A	4: 121,274,671 (GRCm39)	Q70*	probably null	Het
Gm8104	A	C	14: 42,967,501 (GRCm39)	T190P	probably benign	Het
Hps3	A	T	3: 20,065,592 (GRCm39)	N749K	probably damaging	Het
Hr	A	G	14: 70,808,926 (GRCm39)	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,423,074 (GRCm39)	S210T	probably benign	Het
Ift80	T	C	3: 68,901,615 (GRCm39)		probably null	Het
Iqgap1	A	G	7: 80,410,577 (GRCm39)	V212A	possibly damaging	Het
Itih5	A	G	2: 10,243,607 (GRCm39)	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,552,686 (GRCm39)	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,262,692 (GRCm39)	Y52C	probably benign	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030 (GRCm39)	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705 (GRCm39)	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,384,733 (GRCm39)		probably null	Het
Neto1	A	T	18: 86,517,056 (GRCm39)	I458L	probably benign	Het
Nfam1	T	A	15: 82,899,163 (GRCm39)	M128L	probably benign	Het
Or2y13	C	A	11: 49,415,208 (GRCm39)	H219Q	probably benign	Het
Or4g16	A	G	2: 111,137,266 (GRCm39)	T239A	probably damaging	Het
Or5p75-ps1	C	T	7: 108,107,800 (GRCm39)	T179I	unknown	Het
Or8b50	A	T	9: 38,518,384 (GRCm39)	I208F	probably benign	Het
P2ry14	C	T	3: 59,023,466 (GRCm39)	G7D	probably benign	Het
Pde11a	A	G	2: 75,966,758 (GRCm39)	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,058,467 (GRCm39)	V262I	probably benign	Het
Poli	A	G	18: 70,642,049 (GRCm39)	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,195,783 (GRCm39)	W93R	probably damaging	Het
Rbm46	T	C	3: 82,771,428 (GRCm39)	M396V	probably benign	Het
Rcor2	T	C	19: 7,248,587 (GRCm39)	V212A	probably benign	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Skp2	T	A	15: 9,113,920 (GRCm39)	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,269,034 (GRCm39)	S312T	probably benign	Het
Sstr1	T	C	12: 58,260,142 (GRCm39)	L255P	probably damaging	Het
Steap3	T	C	1: 120,155,585 (GRCm39)	E458G	possibly damaging	Het
Sv2b	T	A	7: 74,797,461 (GRCm39)	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Tmem161a	A	G	8: 70,630,138 (GRCm39)	D108G	probably damaging	Het
Traf5	T	A	1: 191,731,792 (GRCm39)	I47F		Het
Trp53bp2	C	T	1: 182,274,133 (GRCm39)	Q95*	probably null	Het
Ttn	G	T	2: 76,707,487 (GRCm39)		probably null	Het
Usf3	T	C	16: 44,040,397 (GRCm39)	S1626P	probably benign	Het
Usp3	T	C	9: 66,474,180 (GRCm39)	R33G	probably benign	Het
Zbtb20	G	T	16: 43,431,039 (GRCm39)	A517S	probably 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
IGL03295:Adamts5	APN	16	85,674,833 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTCATCATGTTGGGAAGC -3'
(R):5'- TGGGCTCATAGACTGTTAAACTCAC -3'

Sequencing Primer
(F):5'- GGGAAGCTCCTAATAATCTGAACCTG -3'
(R):5'- TCCTCTAGGGCATCTACT -3'

Posted On

2019-10-07