Incidental Mutation 'R1906:Adamts5'
| ID |
214407 |
| 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 |
039925-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R1906 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
85655045-85698013 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 85665573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 576
(W576*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023611]
|
| AlphaFold |
Q9R001 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023611
AA Change: W576*
|
| SMART Domains |
Protein: ENSMUSP00000023611
Gene: ENSMUSG00000022894
AA Change: W576*
| 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: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.5%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,072,984 (GRCm39) |
T923I |
probably benign |
Het |
| Abhd13 |
T |
A |
8: 10,038,170 (GRCm39) |
C256S |
probably benign |
Het |
| Adnp |
A |
T |
2: 168,024,287 (GRCm39) |
S1003T |
probably benign |
Het |
| AI987944 |
C |
T |
7: 41,024,550 (GRCm39) |
R146Q |
probably benign |
Het |
| Apol6 |
G |
T |
15: 76,935,060 (GRCm39) |
V110F |
probably damaging |
Het |
| Arhgap27 |
A |
G |
11: 103,223,751 (GRCm39) |
F651L |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,417,868 (GRCm39) |
D813G |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,641,979 (GRCm39) |
I752N |
probably damaging |
Het |
| Cdr2 |
A |
G |
7: 120,581,224 (GRCm39) |
Y18H |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,330,607 (GRCm39) |
F75S |
probably benign |
Het |
| Col20a1 |
G |
A |
2: 180,640,490 (GRCm39) |
R549H |
probably benign |
Het |
| Col28a1 |
A |
T |
6: 7,999,644 (GRCm39) |
N1024K |
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,878,048 (GRCm39) |
V2654D |
probably damaging |
Het |
| Dnph1 |
A |
T |
17: 46,807,787 (GRCm39) |
I18F |
probably damaging |
Het |
| Dsn1 |
G |
A |
2: 156,838,163 (GRCm39) |
R334W |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,518,873 (GRCm39) |
K325N |
probably benign |
Het |
| Eps15 |
T |
G |
4: 109,181,398 (GRCm39) |
S311A |
possibly damaging |
Het |
| Fmo3 |
G |
T |
1: 162,794,475 (GRCm39) |
D198E |
probably damaging |
Het |
| Folh1 |
C |
G |
7: 86,391,374 (GRCm39) |
|
probably null |
Het |
| Foxn1 |
A |
G |
11: 78,262,636 (GRCm39) |
|
probably null |
Het |
| Gm10604 |
T |
G |
4: 11,979,989 (GRCm39) |
D105A |
unknown |
Het |
| Gpx8 |
A |
G |
13: 113,182,110 (GRCm39) |
C108R |
probably damaging |
Het |
| Herc2 |
A |
T |
7: 55,764,612 (GRCm39) |
I1013L |
probably benign |
Het |
| Hyal4 |
T |
G |
6: 24,756,110 (GRCm39) |
N109K |
probably damaging |
Het |
| Il22ra1 |
T |
G |
4: 135,478,544 (GRCm39) |
C538W |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,453,868 (GRCm39) |
|
probably null |
Het |
| Krt75 |
T |
A |
15: 101,481,801 (GRCm39) |
T156S |
possibly damaging |
Het |
| Lama2 |
A |
C |
10: 26,932,523 (GRCm39) |
|
probably null |
Het |
| Lifr |
G |
T |
15: 7,217,612 (GRCm39) |
V847L |
probably damaging |
Het |
| Lmf1 |
T |
A |
17: 25,831,309 (GRCm39) |
I185N |
probably damaging |
Het |
| Mast1 |
G |
A |
8: 85,642,895 (GRCm39) |
R967C |
probably damaging |
Het |
| Ms4a15 |
T |
C |
19: 10,960,644 (GRCm39) |
I94V |
probably benign |
Het |
| Mycbpap |
A |
T |
11: 94,396,447 (GRCm39) |
M131K |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,240,211 (GRCm39) |
M920K |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,198,538 (GRCm39) |
Y437H |
probably damaging |
Het |
| Npy5r |
A |
T |
8: 67,134,125 (GRCm39) |
W223R |
probably damaging |
Het |
| Or10ak11 |
G |
A |
4: 118,687,467 (GRCm39) |
H56Y |
probably damaging |
Het |
| Or10x4 |
C |
A |
1: 174,218,730 (GRCm39) |
L32M |
probably damaging |
Het |
| Or4c114 |
A |
G |
2: 88,905,414 (GRCm39) |
V7A |
possibly damaging |
Het |
| Or6c6c |
T |
G |
10: 129,541,365 (GRCm39) |
V206G |
probably benign |
Het |
| Polg |
T |
C |
7: 79,110,070 (GRCm39) |
K353E |
probably damaging |
Het |
| Proz |
C |
G |
8: 13,123,686 (GRCm39) |
|
probably null |
Het |
| Pus7 |
T |
C |
5: 23,983,209 (GRCm39) |
D86G |
probably damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,583,673 (GRCm39) |
V386A |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,206,054 (GRCm39) |
K846R |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,090,856 (GRCm39) |
|
probably null |
Het |
| Srp68 |
A |
T |
11: 116,141,587 (GRCm39) |
I424N |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,526,908 (GRCm39) |
E1055G |
probably benign |
Het |
| Taf4b |
A |
G |
18: 14,955,159 (GRCm39) |
I571V |
probably benign |
Het |
| Tas2r107 |
T |
C |
6: 131,636,951 (GRCm39) |
M33V |
probably benign |
Het |
| Thap12 |
T |
C |
7: 98,365,947 (GRCm39) |
L705P |
probably damaging |
Het |
| Tom1 |
T |
C |
8: 75,778,218 (GRCm39) |
V100A |
probably damaging |
Het |
| Tox3 |
A |
G |
8: 90,975,057 (GRCm39) |
|
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,344 (GRCm39) |
N781S |
probably damaging |
Het |
| Vwa5b1 |
A |
T |
4: 138,327,547 (GRCm39) |
V343E |
possibly damaging |
Het |
| Zbbx |
A |
G |
3: 74,979,047 (GRCm39) |
Y467H |
probably damaging |
Het |
| Zbtb46 |
G |
A |
2: 181,065,632 (GRCm39) |
R173W |
probably damaging |
Het |
| Zfp112 |
A |
G |
7: 23,821,720 (GRCm39) |
D20G |
probably benign |
Het |
| Zfp777 |
A |
C |
6: 48,018,995 (GRCm39) |
M313R |
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 |
|
|
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 |
|
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'- GCATGACATATGTGATTACTGACAC -3'
(R):5'- TGTGCTGCTAGAAATGAGGTCC -3'
Sequencing Primer
(F):5'- TGATTACTGACACCTGAGGGC -3'
(R):5'- GGTCCTGAATAATGATGACCTGC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation