Incidental Mutation 'R8505:Adamts5'
| ID |
655536 |
| 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 |
067841-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R8505 (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 A
at 85696944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 71
(S71I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023611]
|
| AlphaFold |
Q9R001 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023611
AA Change: S71I
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023611
Gene: ENSMUSG00000022894
AA Change: S71I
| 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: 99.3%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
T |
17: 24,593,471 (GRCm39) |
K289N |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,299,825 (GRCm39) |
Y1308C |
unknown |
Het |
| Cfap54 |
A |
C |
10: 92,814,855 (GRCm39) |
M1326R |
probably benign |
Het |
| Chga |
A |
G |
12: 102,528,004 (GRCm39) |
E165G |
probably damaging |
Het |
| Corin |
T |
A |
5: 72,592,750 (GRCm39) |
I216F |
probably benign |
Het |
| D930048N14Rik |
GGG |
GGGG |
11: 51,541,946 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
T |
12: 51,797,145 (GRCm39) |
W2198R |
probably damaging |
Het |
| Hs3st3a1 |
T |
A |
11: 64,411,614 (GRCm39) |
M384K |
possibly damaging |
Het |
| Ifi207 |
GTT |
GT |
1: 173,557,016 (GRCm39) |
|
probably null |
Het |
| Ighv1-37 |
A |
T |
12: 114,860,248 (GRCm39) |
V15E |
probably benign |
Het |
| Kank4 |
G |
A |
4: 98,673,913 (GRCm39) |
|
probably benign |
Het |
| Mical2 |
C |
A |
7: 111,919,007 (GRCm39) |
T432N |
probably benign |
Het |
| Morn1 |
A |
C |
4: 155,177,792 (GRCm39) |
E201A |
unknown |
Het |
| Myo5c |
T |
A |
9: 75,153,423 (GRCm39) |
I103N |
probably damaging |
Het |
| Nelfe |
G |
A |
17: 35,073,779 (GRCm39) |
|
probably null |
Het |
| Neo1 |
C |
A |
9: 58,820,566 (GRCm39) |
V786L |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,540,163 (GRCm39) |
V821E |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 124,439,084 (GRCm38) |
F111S |
|
Het |
| Rapgef2 |
G |
A |
3: 78,986,349 (GRCm39) |
R1064* |
probably null |
Het |
| Rpusd2 |
A |
G |
2: 118,869,007 (GRCm39) |
I477V |
probably benign |
Het |
| Rrm2 |
A |
G |
12: 24,759,384 (GRCm39) |
I128V |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,506,215 (GRCm39) |
V3469E |
probably damaging |
Het |
| Sowahb |
T |
A |
5: 93,190,450 (GRCm39) |
E756D |
possibly damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Stk35 |
C |
T |
2: 129,643,649 (GRCm39) |
A211V |
probably damaging |
Het |
| Ston1 |
A |
G |
17: 88,943,017 (GRCm39) |
H141R |
probably benign |
Het |
| Tcaf2 |
A |
G |
6: 42,606,475 (GRCm39) |
I493T |
probably benign |
Het |
| Them4 |
A |
T |
3: 94,224,847 (GRCm39) |
T75S |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,088,438 (GRCm39) |
D723G |
probably null |
Het |
| Tnn |
T |
C |
1: 159,973,593 (GRCm39) |
D258G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,745,779 (GRCm39) |
I5090T |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,156,880 (GRCm39) |
G1013S |
|
Het |
| Utp20 |
A |
G |
10: 88,653,870 (GRCm39) |
L250P |
probably benign |
Het |
| Vmn1r199 |
A |
G |
13: 22,567,317 (GRCm39) |
T204A |
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,830,119 (GRCm39) |
T629A |
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 |
|
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 |
|
|
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'- CACGGTGCCTCTGTAGAAAC -3'
(R):5'- CATCCAGCTAGACTCAGTCG -3'
Sequencing Primer
(F):5'- CTGTAGAAACAGTGACCCCGGTG -3'
(R):5'- CTGCTACTGCTGCTGCTGAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation