Incidental Mutation 'R4214:Adamts5'
ID |
319370 |
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 |
041041-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R4214 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
85655045-85698013 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 85665531 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 590
(A590V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023611
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023611]
|
AlphaFold |
Q9R001 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023611
AA Change: A590V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023611 Gene: ENSMUSG00000022894 AA Change: A590V
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 |
|
Meta Mutation Damage Score |
0.3890 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.5%
|
Validation Efficiency |
98% (64/65) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730013G03Rik |
C |
T |
1: 192,515,845 (GRCm39) |
|
noncoding transcript |
Het |
Abca12 |
T |
A |
1: 71,327,856 (GRCm39) |
D1408V |
probably damaging |
Het |
Abca13 |
A |
T |
11: 9,243,877 (GRCm39) |
L1913F |
probably damaging |
Het |
Acad9 |
A |
G |
3: 36,127,752 (GRCm39) |
E118G |
probably damaging |
Het |
Ano6 |
A |
C |
15: 95,863,790 (GRCm39) |
Y791S |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,346,603 (GRCm39) |
|
probably null |
Het |
Aox4 |
T |
A |
1: 58,261,051 (GRCm39) |
I128N |
probably damaging |
Het |
Atp2b3 |
A |
G |
X: 72,613,921 (GRCm39) |
M1142V |
probably benign |
Het |
AU041133 |
A |
G |
10: 81,987,223 (GRCm39) |
H292R |
probably damaging |
Het |
Bco2 |
A |
G |
9: 50,456,666 (GRCm39) |
M158T |
probably benign |
Het |
Bpnt1 |
T |
A |
1: 185,077,626 (GRCm39) |
|
probably benign |
Het |
Cadm1 |
A |
G |
9: 47,708,741 (GRCm39) |
D157G |
probably damaging |
Het |
Catsperg1 |
T |
C |
7: 28,895,357 (GRCm39) |
R499G |
possibly damaging |
Het |
Ccr7 |
T |
C |
11: 99,035,872 (GRCm39) |
E350G |
probably damaging |
Het |
Ceacam5 |
T |
A |
7: 17,486,076 (GRCm39) |
S524R |
probably benign |
Het |
Cep78 |
T |
C |
19: 15,936,943 (GRCm39) |
T588A |
probably benign |
Het |
Cfap65 |
T |
A |
1: 74,966,840 (GRCm39) |
E282D |
possibly damaging |
Het |
Drd2 |
A |
G |
9: 49,316,221 (GRCm39) |
K327R |
probably benign |
Het |
Erich5 |
C |
T |
15: 34,471,557 (GRCm39) |
P262L |
possibly damaging |
Het |
Ezh2 |
A |
C |
6: 47,510,748 (GRCm39) |
D578E |
probably damaging |
Het |
Fez1 |
A |
G |
9: 36,781,784 (GRCm39) |
N20S |
probably damaging |
Het |
Folr2 |
T |
G |
7: 101,492,906 (GRCm39) |
K39T |
probably damaging |
Het |
Gm10549 |
G |
T |
18: 33,597,530 (GRCm39) |
|
probably null |
Het |
Gm14393 |
C |
T |
2: 174,903,640 (GRCm39) |
C89Y |
probably benign |
Het |
Gm5329 |
T |
G |
7: 31,671,828 (GRCm39) |
|
noncoding transcript |
Het |
Gm7367 |
A |
G |
7: 59,805,517 (GRCm39) |
|
noncoding transcript |
Het |
Gpr162 |
A |
T |
6: 124,837,031 (GRCm39) |
W338R |
probably damaging |
Het |
Ift80 |
A |
T |
3: 68,898,141 (GRCm39) |
F65I |
possibly damaging |
Het |
Klra6 |
T |
G |
6: 129,995,885 (GRCm39) |
I158L |
probably benign |
Het |
Lpp |
T |
A |
16: 24,580,804 (GRCm39) |
Y173* |
probably null |
Het |
Lrp12 |
A |
G |
15: 39,735,976 (GRCm39) |
V671A |
probably benign |
Het |
Lrrc27 |
C |
T |
7: 138,803,609 (GRCm39) |
R178C |
probably damaging |
Het |
Lrrc49 |
G |
A |
9: 60,573,609 (GRCm39) |
T225M |
probably benign |
Het |
Megf8 |
T |
A |
7: 25,054,793 (GRCm39) |
S1915T |
probably benign |
Het |
Mmadhc |
T |
C |
2: 50,181,344 (GRCm39) |
T109A |
probably benign |
Het |
Mon2 |
T |
C |
10: 122,852,397 (GRCm39) |
E992G |
probably benign |
Het |
Msl3 |
A |
G |
X: 167,450,059 (GRCm39) |
I267T |
probably damaging |
Het |
Msl3 |
A |
T |
X: 167,445,430 (GRCm39) |
N430K |
probably damaging |
Het |
Nab2 |
G |
T |
10: 127,500,917 (GRCm39) |
Y25* |
probably null |
Het |
Notch3 |
T |
C |
17: 32,351,181 (GRCm39) |
E1938G |
possibly damaging |
Het |
Or5ae2 |
C |
T |
7: 84,506,497 (GRCm39) |
H307Y |
probably benign |
Het |
Osgepl1 |
A |
G |
1: 53,354,167 (GRCm39) |
T44A |
probably damaging |
Het |
Pdpr |
A |
G |
8: 111,856,212 (GRCm39) |
|
probably benign |
Het |
Pfkp |
A |
G |
13: 6,669,261 (GRCm39) |
S241P |
probably damaging |
Het |
Phgdh |
A |
T |
3: 98,235,377 (GRCm39) |
S166T |
possibly damaging |
Het |
Plcl1 |
C |
T |
1: 55,790,494 (GRCm39) |
Q1055* |
probably null |
Het |
Plscr2 |
A |
G |
9: 92,169,790 (GRCm39) |
N80S |
probably benign |
Het |
Polr3k |
A |
T |
2: 181,510,035 (GRCm39) |
M80L |
probably benign |
Het |
Prex2 |
A |
G |
1: 11,171,383 (GRCm39) |
D304G |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,355,285 (GRCm39) |
T1529A |
probably damaging |
Het |
Rcvrn |
A |
T |
11: 67,586,514 (GRCm39) |
H91L |
possibly damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Tbx18 |
T |
C |
9: 87,606,518 (GRCm39) |
Y209C |
probably damaging |
Het |
Themis3 |
T |
C |
17: 66,867,012 (GRCm39) |
N76S |
probably benign |
Het |
Trhde |
A |
T |
10: 114,623,975 (GRCm39) |
S310T |
possibly damaging |
Het |
Vmn1r213 |
G |
A |
13: 23,196,173 (GRCm39) |
C252Y |
possibly damaging |
Het |
Zfp523 |
T |
C |
17: 28,420,003 (GRCm39) |
V216A |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCTGCTCTAGCCAGTATG -3'
(R):5'- AATTGGTGCATATGTATCCACTGG -3'
Sequencing Primer
(F):5'- GCTCTAGCCAGTATGAGATTAATGC -3'
(R):5'- TCCACTGGGATGATATACGCAAGTG -3'
|
Posted On |
2015-06-10 |