Incidental Mutation 'R5452:Adamts5'
ID |
432604 |
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 |
042848-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R5452 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
85655045-85698013 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site |
DNA Base Change (assembly) |
A to G
at 85666800 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023611
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023611]
|
AlphaFold |
Q9R001 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023611
|
SMART Domains |
Protein: ENSMUSP00000023611 Gene: ENSMUSG00000022894
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: 97.2%
- 20x: 95.1%
|
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 |
Adam20 |
A |
T |
8: 41,248,801 (GRCm39) |
I304F |
probably damaging |
Het |
Akr1c6 |
A |
G |
13: 4,504,544 (GRCm39) |
R132G |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,892,183 (GRCm39) |
M1354K |
possibly damaging |
Het |
C6 |
T |
C |
15: 4,844,311 (GRCm39) |
I911T |
possibly damaging |
Het |
Calm2 |
T |
C |
17: 87,743,150 (GRCm39) |
|
probably null |
Het |
Ccdc80 |
G |
A |
16: 44,938,528 (GRCm39) |
R745Q |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,721,233 (GRCm39) |
I2685T |
possibly damaging |
Het |
Chkb |
T |
C |
15: 89,313,788 (GRCm39) |
|
probably benign |
Het |
Dennd5b |
T |
A |
6: 148,943,011 (GRCm39) |
|
probably null |
Het |
Dnah2 |
T |
C |
11: 69,415,209 (GRCm39) |
Y175C |
probably damaging |
Het |
Dnajc13 |
A |
G |
9: 104,069,313 (GRCm39) |
S1154P |
probably benign |
Het |
Ephb4 |
T |
C |
5: 137,359,404 (GRCm39) |
S325P |
probably damaging |
Het |
Fzd9 |
C |
T |
5: 135,279,714 (GRCm39) |
R57H |
probably damaging |
Het |
Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
Gm9949 |
A |
G |
18: 62,313,587 (GRCm39) |
|
probably benign |
Het |
Gnb4 |
A |
T |
3: 32,643,994 (GRCm39) |
M188K |
probably benign |
Het |
Hr |
G |
T |
14: 70,794,067 (GRCm39) |
G109V |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,812,328 (GRCm39) |
S2426P |
probably damaging |
Het |
Map2k4 |
A |
G |
11: 65,610,413 (GRCm39) |
W88R |
probably damaging |
Het |
Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
Moxd2 |
C |
T |
6: 40,859,048 (GRCm39) |
|
probably null |
Het |
Mrgprx1 |
T |
C |
7: 47,671,556 (GRCm39) |
I64V |
probably benign |
Het |
Mtrex |
T |
C |
13: 113,049,715 (GRCm39) |
S232G |
probably null |
Het |
Or5p68 |
A |
C |
7: 107,945,312 (GRCm39) |
I292S |
probably damaging |
Het |
Padi2 |
T |
C |
4: 140,659,382 (GRCm39) |
F229S |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,666,172 (GRCm39) |
N1136S |
probably benign |
Het |
Pcdhb1 |
A |
T |
18: 37,398,811 (GRCm39) |
N254I |
possibly damaging |
Het |
Plcb2 |
A |
G |
2: 118,548,727 (GRCm39) |
Y400H |
probably damaging |
Het |
Plce1 |
A |
C |
19: 38,608,926 (GRCm39) |
T412P |
probably benign |
Het |
Prg4 |
T |
C |
1: 150,331,519 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,586,501 (GRCm39) |
N2510S |
possibly damaging |
Het |
Psme4 |
T |
A |
11: 30,741,168 (GRCm39) |
S107T |
probably benign |
Het |
Resf1 |
C |
A |
6: 149,230,611 (GRCm39) |
S1219* |
probably null |
Het |
Rint1 |
G |
T |
5: 23,999,363 (GRCm39) |
A51S |
probably benign |
Het |
Rsad1 |
T |
A |
11: 94,434,515 (GRCm39) |
R306S |
probably damaging |
Het |
Sema3c |
T |
G |
5: 17,922,068 (GRCm39) |
|
probably null |
Het |
Sirt3 |
G |
A |
7: 140,444,928 (GRCm39) |
T290I |
probably damaging |
Het |
Spam1 |
G |
A |
6: 24,800,731 (GRCm39) |
G490D |
probably benign |
Het |
Speer4f2 |
C |
T |
5: 17,581,498 (GRCm39) |
R147W |
possibly damaging |
Het |
Sppl2c |
A |
T |
11: 104,078,126 (GRCm39) |
I309L |
probably benign |
Het |
Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
St3gal4 |
C |
T |
9: 34,964,752 (GRCm39) |
R152H |
probably damaging |
Het |
Sv2c |
A |
T |
13: 96,114,591 (GRCm39) |
F532I |
probably damaging |
Het |
Tacc1 |
C |
A |
8: 25,654,431 (GRCm39) |
K705N |
probably null |
Het |
Tekt3 |
G |
T |
11: 62,985,619 (GRCm39) |
S475I |
probably damaging |
Het |
Tjap1 |
T |
C |
17: 46,571,101 (GRCm39) |
T139A |
probably damaging |
Het |
Tnfrsf8 |
T |
A |
4: 145,019,214 (GRCm39) |
K207M |
possibly damaging |
Het |
Tnn |
T |
C |
1: 159,937,831 (GRCm39) |
T965A |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trmt2a |
A |
G |
16: 18,068,814 (GRCm39) |
H270R |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,780,037 (GRCm39) |
L448P |
probably benign |
Het |
Ttll4 |
C |
A |
1: 74,718,480 (GRCm39) |
N110K |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Tut7 |
A |
G |
13: 59,948,471 (GRCm39) |
Y215H |
probably damaging |
Het |
Ubr1 |
A |
G |
2: 120,698,783 (GRCm39) |
Y1595H |
possibly damaging |
Het |
Unc45a |
G |
A |
7: 79,978,787 (GRCm39) |
P621S |
probably damaging |
Het |
Xrn2 |
A |
T |
2: 146,866,633 (GRCm39) |
|
probably null |
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 |
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'- TGGAGTTTGCCAAGAAATCCCTG -3'
(R):5'- AGTGCAACTTGACATTTGGGC -3'
Sequencing Primer
(F):5'- GCCAAGAAATCCCTGTTACTTGTGTG -3'
(R):5'- CAACTTGACATTTGGGCCTGAGTAC -3'
|
Posted On |
2016-10-06 |