Incidental Mutation 'R5230:Adamts5'
ID |
403743 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts5
|
Ensembl Gene |
ENSMUSG00000022894 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 5 |
Synonyms |
ADAM-TS5, 9530092O11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R5230 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
85655045-85698013 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 85666956 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 512
(D512G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023611
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023611]
|
AlphaFold |
Q9R001 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023611
AA Change: D512G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023611 Gene: ENSMUSG00000022894 AA Change: D512G
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,651,820 (GRCm39) |
N1296S |
probably damaging |
Het |
Abca5 |
A |
T |
11: 110,210,686 (GRCm39) |
D164E |
probably benign |
Het |
Ankrd11 |
G |
A |
8: 123,617,216 (GRCm39) |
T2191I |
probably benign |
Het |
Anxa3 |
T |
C |
5: 96,986,171 (GRCm39) |
F270S |
possibly damaging |
Het |
Bard1 |
A |
G |
1: 71,092,770 (GRCm39) |
|
probably null |
Het |
Ccdc142 |
T |
C |
6: 83,084,777 (GRCm39) |
V591A |
probably damaging |
Het |
Col6a3 |
C |
T |
1: 90,716,776 (GRCm39) |
E1613K |
unknown |
Het |
Dnah9 |
T |
A |
11: 65,975,492 (GRCm39) |
H1519L |
probably damaging |
Het |
Egf |
T |
C |
3: 129,511,673 (GRCm39) |
D498G |
possibly damaging |
Het |
Enah |
A |
C |
1: 181,763,235 (GRCm39) |
|
probably benign |
Het |
Fat3 |
A |
T |
9: 15,901,856 (GRCm39) |
N3056K |
possibly damaging |
Het |
Gm4846 |
T |
A |
1: 166,317,748 (GRCm39) |
N223Y |
probably benign |
Het |
Gm8104 |
A |
G |
14: 42,958,975 (GRCm39) |
N55S |
probably damaging |
Het |
Gpatch8 |
A |
G |
11: 102,370,404 (GRCm39) |
S1045P |
probably damaging |
Het |
Haus4 |
A |
G |
14: 54,781,251 (GRCm39) |
M275T |
probably benign |
Het |
Ighe |
T |
A |
12: 113,235,006 (GRCm39) |
T385S |
unknown |
Het |
Ipo9 |
G |
A |
1: 135,347,808 (GRCm39) |
S78L |
probably damaging |
Het |
Kif21b |
G |
A |
1: 136,099,411 (GRCm39) |
V1473M |
probably damaging |
Het |
Lama1 |
T |
A |
17: 68,052,078 (GRCm39) |
Y345* |
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Loxl3 |
A |
G |
6: 83,012,775 (GRCm39) |
T105A |
probably benign |
Het |
Map4k3 |
A |
G |
17: 80,922,599 (GRCm39) |
S441P |
probably benign |
Het |
Med12l |
C |
T |
3: 59,153,209 (GRCm39) |
T1078I |
probably damaging |
Het |
Mef2c |
T |
A |
13: 83,801,026 (GRCm39) |
M242K |
possibly damaging |
Het |
Morc2b |
A |
G |
17: 33,355,226 (GRCm39) |
Y849H |
probably benign |
Het |
Mroh2b |
T |
A |
15: 4,971,004 (GRCm39) |
V1003E |
probably benign |
Het |
Myo15a |
T |
A |
11: 60,393,674 (GRCm39) |
M1135K |
possibly damaging |
Het |
Nckap1l |
A |
T |
15: 103,392,066 (GRCm39) |
I834F |
probably benign |
Het |
Nrg1 |
T |
A |
8: 32,308,507 (GRCm39) |
Y503F |
probably damaging |
Het |
Numa1 |
T |
C |
7: 101,644,731 (GRCm39) |
S236P |
possibly damaging |
Het |
Or4f61 |
A |
T |
2: 111,922,734 (GRCm39) |
I104N |
probably benign |
Het |
Pcdhga2 |
T |
C |
18: 37,802,795 (GRCm39) |
V213A |
probably benign |
Het |
Pdzd2 |
A |
T |
15: 12,390,119 (GRCm39) |
M826K |
probably damaging |
Het |
Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
Rnf38 |
T |
C |
4: 44,149,176 (GRCm39) |
Q57R |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Serpina6 |
T |
C |
12: 103,618,157 (GRCm39) |
T219A |
probably benign |
Het |
Spata31d1c |
T |
A |
13: 65,183,248 (GRCm39) |
N263K |
probably benign |
Het |
Spef2 |
T |
G |
15: 9,667,316 (GRCm39) |
I791L |
possibly damaging |
Het |
Sv2a |
T |
C |
3: 96,092,776 (GRCm39) |
C159R |
probably damaging |
Het |
Tbc1d31 |
T |
A |
15: 57,824,315 (GRCm39) |
L859Q |
probably damaging |
Het |
Tecta |
C |
A |
9: 42,306,239 (GRCm39) |
R63L |
probably damaging |
Het |
Tex52 |
A |
G |
6: 128,361,779 (GRCm39) |
E252G |
probably damaging |
Het |
Tnfsf13b |
A |
G |
8: 10,081,608 (GRCm39) |
I257V |
possibly damaging |
Het |
Tpk1 |
A |
G |
6: 43,400,653 (GRCm39) |
L172P |
probably damaging |
Het |
Trim3 |
T |
G |
7: 105,268,720 (GRCm39) |
N78T |
possibly damaging |
Het |
Try5 |
A |
G |
6: 41,289,312 (GRCm39) |
V88A |
probably benign |
Het |
Vmn1r222 |
T |
G |
13: 23,417,172 (GRCm39) |
M14L |
probably benign |
Het |
Wdr90 |
A |
T |
17: 26,074,277 (GRCm39) |
V678E |
probably benign |
Het |
Zan |
A |
G |
5: 137,452,340 (GRCm39) |
L1543P |
unknown |
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 |
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'- CATGCCTGGAAAAGCACTTC -3'
(R):5'- TACTTCTTAGGTCGCTGGTTATAGC -3'
Sequencing Primer
(F):5'- CACTTCCTGTGTTGGGTCTCG -3'
(R):5'- GGTCGCTGGTTATAGCAATTTGAAAC -3'
|
Posted On |
2016-07-22 |