Incidental Mutation 'R7066:Adamts5'
| ID |
548595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts5
|
| Ensembl Gene |
ENSMUSG00000022894 |
| Gene Name |
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2) |
| Synonyms |
9530092O11Rik, ADAM-TS5 |
| MMRRC Submission |
045162-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R7066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
85856173-85901828 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85862764 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 880
(V880E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023611]
|
| AlphaFold |
Q9R001 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023611
AA Change: V880E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023611
Gene: ENSMUSG00000022894
AA Change: V880E
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (52/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,927,114 (GRCm38) |
V175A |
probably damaging |
Het |
| Adgrf1 |
T |
A |
17: 43,310,260 (GRCm38) |
F463I |
probably benign |
Het |
| Ano1 |
T |
A |
7: 144,637,086 (GRCm38) |
E249D |
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,908,619 (GRCm38) |
D686G |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 30,352,978 (GRCm38) |
|
probably benign |
Het |
| Cdc42ep4 |
A |
G |
11: 113,729,218 (GRCm38) |
S116P |
probably damaging |
Het |
| Ces2a |
T |
C |
8: 104,740,248 (GRCm38) |
V463A |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 32,901,848 (GRCm38) |
D297G |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,990,891 (GRCm38) |
V5656E |
possibly damaging |
Het |
| Gbp5 |
A |
G |
3: 142,507,729 (GRCm38) |
T469A |
probably benign |
Het |
| Gm21663 |
C |
G |
5: 25,941,261 (GRCm38) |
|
probably null |
Het |
| Iqch |
A |
G |
9: 63,524,745 (GRCm38) |
V456A |
probably benign |
Het |
| Lpcat1 |
A |
C |
13: 73,511,381 (GRCm38) |
I373L |
probably benign |
Het |
| Morc2b |
C |
T |
17: 33,136,636 (GRCm38) |
V721I |
probably benign |
Het |
| Mrgprb1 |
C |
T |
7: 48,447,676 (GRCm38) |
V163M |
probably benign |
Het |
| Mtfr2 |
A |
G |
10: 20,354,226 (GRCm38) |
I142V |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,658,021 (GRCm38) |
S1067R |
unknown |
Het |
| Myh14 |
T |
C |
7: 44,630,755 (GRCm38) |
S892G |
possibly damaging |
Het |
| Mylk2 |
C |
T |
2: 152,911,668 (GRCm38) |
|
probably null |
Het |
| Mzf1 |
A |
T |
7: 13,043,563 (GRCm38) |
V638E |
possibly damaging |
Het |
| Ncoa1 |
C |
T |
12: 4,322,934 (GRCm38) |
V156I |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,556,720 (GRCm38) |
E2450G |
probably damaging |
Het |
| Olfr1048 |
T |
C |
2: 86,236,658 (GRCm38) |
D52G |
probably damaging |
Het |
| Olfr1086 |
T |
A |
2: 86,677,226 (GRCm38) |
T36S |
possibly damaging |
Het |
| Olfr114 |
T |
A |
17: 37,590,143 (GRCm38) |
D70V |
probably damaging |
Het |
| Olfr1245 |
T |
C |
2: 89,575,703 (GRCm38) |
T8A |
probably damaging |
Het |
| Olfr1313 |
G |
A |
2: 112,072,196 (GRCm38) |
P129L |
probably damaging |
Het |
| Olfr389 |
A |
G |
11: 73,777,192 (GRCm38) |
I45T |
probably damaging |
Het |
| Olfr794 |
T |
C |
10: 129,571,504 (GRCm38) |
L283S |
probably damaging |
Het |
| Olfr969 |
A |
G |
9: 39,796,124 (GRCm38) |
I250V |
probably benign |
Het |
| P4htm |
T |
G |
9: 108,596,963 (GRCm38) |
K125N |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,413,197 (GRCm38) |
T240A |
probably benign |
Het |
| Pcolce2 |
T |
C |
9: 95,681,621 (GRCm38) |
V220A |
probably benign |
Het |
| Pcyox1 |
A |
T |
6: 86,394,496 (GRCm38) |
I136N |
probably damaging |
Het |
| Pde4b |
A |
G |
4: 102,602,806 (GRCm38) |
S395G |
probably benign |
Het |
| Peg3 |
C |
A |
7: 6,708,857 (GRCm38) |
R1122L |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,370,988 (GRCm38) |
V922A |
possibly damaging |
Het |
| Rad51c |
T |
C |
11: 87,402,676 (GRCm38) |
N118S |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,250,005 (GRCm38) |
V1216D |
possibly damaging |
Het |
| Rictor |
C |
T |
15: 6,772,154 (GRCm38) |
S441L |
probably benign |
Het |
| Rlf |
T |
C |
4: 121,148,787 (GRCm38) |
M999V |
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,579,918 (GRCm38) |
|
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,751,123 (GRCm38) |
K18N |
probably benign |
Het |
| Sema5b |
A |
C |
16: 35,651,312 (GRCm38) |
D425A |
probably benign |
Het |
| Siglecg |
A |
G |
7: 43,411,742 (GRCm38) |
E413G |
probably benign |
Het |
| Tcaf1 |
A |
T |
6: 42,679,177 (GRCm38) |
N288K |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,894,732 (GRCm38) |
D210G |
probably benign |
Het |
| Umps |
A |
T |
16: 33,961,733 (GRCm38) |
L273* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,705,686 (GRCm38) |
V385D |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 111,465,845 (GRCm38) |
T676A |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,307,559 (GRCm38) |
H1699R |
probably benign |
Het |
| Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,895,021 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Adamts5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01063:Adamts5
|
APN |
16 |
85,899,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01070:Adamts5
|
APN |
16 |
85,863,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01321:Adamts5
|
APN |
16 |
85,899,475 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01616:Adamts5
|
APN |
16 |
85,887,814 (GRCm38) |
splice site |
probably null |
|
|
IGL02551:Adamts5
|
APN |
16 |
85,870,038 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL03263:Adamts5
|
APN |
16 |
85,869,942 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03295:Adamts5
|
APN |
16 |
85,877,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03393:Adamts5
|
APN |
16 |
85,868,195 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03403:Adamts5
|
APN |
16 |
85,863,014 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0414:Adamts5
|
UTSW |
16 |
85,877,906 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0419:Adamts5
|
UTSW |
16 |
85,866,642 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0539:Adamts5
|
UTSW |
16 |
85,868,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0570:Adamts5
|
UTSW |
16 |
85,899,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0574:Adamts5
|
UTSW |
16 |
85,899,484 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0669:Adamts5
|
UTSW |
16 |
85,899,726 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1454:Adamts5
|
UTSW |
16 |
85,869,993 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1498:Adamts5
|
UTSW |
16 |
85,900,102 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1729:Adamts5
|
UTSW |
16 |
85,877,915 (GRCm38) |
nonsense |
probably null |
|
|
R1753:Adamts5
|
UTSW |
16 |
85,899,352 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1784:Adamts5
|
UTSW |
16 |
85,877,915 (GRCm38) |
nonsense |
probably null |
|
|
R1906:Adamts5
|
UTSW |
16 |
85,868,685 (GRCm38) |
nonsense |
probably null |
|
|
R1946:Adamts5
|
UTSW |
16 |
85,899,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2180:Adamts5
|
UTSW |
16 |
85,887,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2223:Adamts5
|
UTSW |
16 |
85,899,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2366:Adamts5
|
UTSW |
16 |
85,862,758 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3889:Adamts5
|
UTSW |
16 |
85,868,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4214:Adamts5
|
UTSW |
16 |
85,868,643 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4909:Adamts5
|
UTSW |
16 |
85,900,066 (GRCm38) |
nonsense |
probably null |
|
|
R5119:Adamts5
|
UTSW |
16 |
85,899,578 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5230:Adamts5
|
UTSW |
16 |
85,870,068 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5452:Adamts5
|
UTSW |
16 |
85,869,912 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R5652:Adamts5
|
UTSW |
16 |
85,899,268 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5831:Adamts5
|
UTSW |
16 |
85,868,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6045:Adamts5
|
UTSW |
16 |
85,899,300 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6259:Adamts5
|
UTSW |
16 |
85,899,753 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6384:Adamts5
|
UTSW |
16 |
85,862,828 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6724:Adamts5
|
UTSW |
16 |
85,868,557 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6829:Adamts5
|
UTSW |
16 |
85,870,071 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R7256:Adamts5
|
UTSW |
16 |
85,863,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7293:Adamts5
|
UTSW |
16 |
85,899,945 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7298:Adamts5
|
UTSW |
16 |
85,899,918 (GRCm38) |
missense |
probably benign |
0.35 |
|
R7384:Adamts5
|
UTSW |
16 |
85,899,826 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7452:Adamts5
|
UTSW |
16 |
85,877,981 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7727:Adamts5
|
UTSW |
16 |
85,899,966 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7785:Adamts5
|
UTSW |
16 |
85,863,004 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7894:Adamts5
|
UTSW |
16 |
85,877,920 (GRCm38) |
nonsense |
probably null |
|
|
R8111:Adamts5
|
UTSW |
16 |
85,899,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8370:Adamts5
|
UTSW |
16 |
85,899,993 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R8413:Adamts5
|
UTSW |
16 |
85,866,618 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8505:Adamts5
|
UTSW |
16 |
85,900,056 (GRCm38) |
missense |
probably benign |
0.42 |
|
R8804:Adamts5
|
UTSW |
16 |
85,869,912 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R9209:Adamts5
|
UTSW |
16 |
85,870,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9455:Adamts5
|
UTSW |
16 |
85,870,129 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9616:Adamts5
|
UTSW |
16 |
85,862,786 (GRCm38) |
missense |
probably benign |
0.34 |
|
X0062:Adamts5
|
UTSW |
16 |
85,863,157 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Adamts5
|
UTSW |
16 |
85,870,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACCACAGCTGTATCTGC -3'
(R):5'- ACATGGGATGGGCTATTCAG -3'
Sequencing Primer
(F):5'- ACAGCTGTATCTGCGATGATC -3'
(R):5'- GCCACAAAAGAAATCCTGATCGTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation