Incidental Mutation 'R9455:Adamts5'
| ID |
714557 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R9455 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
85655045-85698013 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85667017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 492
(D492N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023611]
|
| AlphaFold |
Q9R001 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023611
AA Change: D492N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023611
Gene: ENSMUSG00000022894
AA Change: D492N
| 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: 99.8%
- 20x: 99.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,353,897 (GRCm39) |
Y3740H |
probably damaging |
Het |
| Acsl6 |
G |
T |
11: 54,210,752 (GRCm39) |
|
probably benign |
Het |
| Als2 |
T |
C |
1: 59,219,296 (GRCm39) |
E1218G |
probably damaging |
Het |
| Bcl2l15 |
C |
T |
3: 103,743,369 (GRCm39) |
T90I |
unknown |
Het |
| Bsn |
A |
G |
9: 107,988,531 (GRCm39) |
V2407A |
unknown |
Het |
| Casp8ap2 |
T |
C |
4: 32,643,924 (GRCm39) |
M999T |
possibly damaging |
Het |
| Ccdc66 |
G |
A |
14: 27,208,872 (GRCm39) |
P461S |
probably benign |
Het |
| Cd46 |
G |
A |
1: 194,744,704 (GRCm39) |
L345F |
possibly damaging |
Het |
| Cep295 |
A |
T |
9: 15,245,046 (GRCm39) |
S1137T |
possibly damaging |
Het |
| Chd7 |
A |
G |
4: 8,752,061 (GRCm39) |
Y186C |
unknown |
Het |
| Clca3b |
T |
A |
3: 144,529,023 (GRCm39) |
T884S |
unknown |
Het |
| Cndp2 |
T |
A |
18: 84,690,246 (GRCm39) |
Y232F |
probably benign |
Het |
| Cx3cr1 |
A |
T |
9: 119,880,659 (GRCm39) |
Y248N |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 162,148,524 (GRCm39) |
N282K |
possibly damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,485 (GRCm39) |
I414V |
probably benign |
Het |
| F3 |
A |
T |
3: 121,527,866 (GRCm39) |
N288I |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,945,412 (GRCm39) |
L1435P |
|
Het |
| Fbxw14 |
A |
T |
9: 109,103,567 (GRCm39) |
N371K |
probably benign |
Het |
| Firrm |
G |
T |
1: 163,781,721 (GRCm39) |
T902K |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,647,112 (GRCm39) |
E1559D |
probably benign |
Het |
| Frrs1 |
T |
A |
3: 116,695,972 (GRCm39) |
M497K |
possibly damaging |
Het |
| Gm45861 |
C |
T |
8: 28,041,394 (GRCm39) |
Q1000* |
probably null |
Het |
| Gpr152 |
T |
C |
19: 4,193,844 (GRCm39) |
S462P |
probably benign |
Het |
| Irgq |
A |
G |
7: 24,231,217 (GRCm39) |
N136S |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,099,537 (GRCm39) |
Y134C |
probably damaging |
Het |
| Klf12 |
A |
T |
14: 100,347,226 (GRCm39) |
L35H |
probably damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Ksr1 |
A |
T |
11: 78,911,602 (GRCm39) |
C727S |
possibly damaging |
Het |
| Lpin3 |
G |
T |
2: 160,737,259 (GRCm39) |
R102L |
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,058,117 (GRCm39) |
E229G |
probably damaging |
Het |
| Ly6f |
T |
A |
15: 75,141,648 (GRCm39) |
Y30* |
probably null |
Het |
| Map2k7 |
C |
G |
8: 4,293,957 (GRCm39) |
R168G |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,805,867 (GRCm39) |
E100G |
probably benign |
Het |
| Mrgpra6 |
T |
A |
7: 46,838,967 (GRCm39) |
Y46F |
probably damaging |
Het |
| Mroh6 |
C |
A |
15: 75,759,905 (GRCm39) |
R143L |
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,156,293 (GRCm39) |
H713Q |
probably benign |
Het |
| Ndn |
C |
T |
7: 61,998,337 (GRCm39) |
P61L |
possibly damaging |
Het |
| Or51b6 |
G |
T |
7: 103,556,200 (GRCm39) |
V182F |
|
Het |
| Pear1 |
T |
A |
3: 87,666,488 (GRCm39) |
T72S |
possibly damaging |
Het |
| Sel1l3 |
T |
A |
5: 53,289,157 (GRCm39) |
N888I |
probably damaging |
Het |
| Sell |
A |
T |
1: 163,894,218 (GRCm39) |
T171S |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,585,907 (GRCm39) |
M1K |
probably null |
Het |
| Sin3b |
G |
T |
8: 73,450,681 (GRCm39) |
A37S |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,434,399 (GRCm39) |
F723S |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,863,588 (GRCm39) |
T724A |
probably damaging |
Het |
| Slc51a |
T |
G |
16: 32,305,013 (GRCm39) |
N25H |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,668,612 (GRCm39) |
F752L |
probably benign |
Het |
| Slco4a1 |
A |
C |
2: 180,115,370 (GRCm39) |
D649A |
probably benign |
Het |
| Tax1bp1 |
T |
A |
6: 52,743,029 (GRCm39) |
H805Q |
probably damaging |
Het |
| Tgfb1i1 |
T |
C |
7: 127,852,009 (GRCm39) |
F303L |
probably damaging |
Het |
| Tsg101 |
A |
T |
7: 46,563,151 (GRCm39) |
D34E |
probably damaging |
Het |
| Tspoap1 |
T |
C |
11: 87,661,359 (GRCm39) |
S604P |
probably damaging |
Het |
| Ttll2 |
C |
A |
17: 7,619,692 (GRCm39) |
W78C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,749,334 (GRCm39) |
F3905S |
possibly damaging |
Het |
| Txnrd2 |
G |
T |
16: 18,248,615 (GRCm39) |
C57F |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,837,452 (GRCm39) |
D2697E |
probably damaging |
Het |
| Vwa8 |
G |
A |
14: 79,300,115 (GRCm39) |
V983I |
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 |
|
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 |
|
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'- TCCACACATTTGCCTTGAAGG -3'
(R):5'- TTCTAGCATCCAAACAGATGGC -3'
Sequencing Primer
(F):5'- CTTGAAGGCAGACTCTTCCC -3'
(R):5'- AACAGATGGCCAGCCCTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation