Incidental Mutation 'R0079:Adamts3'
ID |
19602 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts3
|
Ensembl Gene |
ENSMUSG00000043635 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 3 |
Synonyms |
1100001H14Rik, 6330442E02Rik |
MMRRC Submission |
038366-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0079 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
89824946-90031193 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 89840912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Alanine
at position 804
(P804A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058552
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061427]
[ENSMUST00000163159]
|
AlphaFold |
E9Q287 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061427
AA Change: P804A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000058552 Gene: ENSMUSG00000043635 AA Change: P804A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
42 |
201 |
5.1e-40 |
PFAM |
Pfam:Reprolysin_5
|
254 |
439 |
5.4e-15 |
PFAM |
Pfam:Reprolysin_4
|
256 |
454 |
1.9e-10 |
PFAM |
Pfam:Reprolysin
|
257 |
460 |
3.6e-22 |
PFAM |
Pfam:Reprolysin_2
|
274 |
451 |
7.7e-13 |
PFAM |
Pfam:Reprolysin_3
|
278 |
409 |
1.5e-12 |
PFAM |
TSP1
|
554 |
606 |
1.26e-15 |
SMART |
Pfam:ADAM_spacer1
|
713 |
827 |
3e-34 |
PFAM |
TSP1
|
848 |
905 |
4.35e-2 |
SMART |
TSP1
|
908 |
967 |
4.95e-2 |
SMART |
TSP1
|
969 |
1016 |
6.58e-5 |
SMART |
low complexity region
|
1114 |
1128 |
N/A |
INTRINSIC |
low complexity region
|
1157 |
1177 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163159
AA Change: P805A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132219 Gene: ENSMUSG00000043635 AA Change: P805A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
43 |
201 |
1.5e-40 |
PFAM |
Pfam:Reprolysin_5
|
254 |
439 |
2.2e-15 |
PFAM |
Pfam:Reprolysin_4
|
256 |
454 |
7.7e-11 |
PFAM |
Pfam:Reprolysin
|
257 |
460 |
3.7e-21 |
PFAM |
Pfam:Reprolysin_2
|
274 |
451 |
4.3e-14 |
PFAM |
Pfam:Reprolysin_3
|
278 |
409 |
1.3e-12 |
PFAM |
TSP1
|
554 |
606 |
1.26e-15 |
SMART |
Pfam:ADAM_spacer1
|
713 |
828 |
3.6e-28 |
PFAM |
TSP1
|
849 |
906 |
4.35e-2 |
SMART |
TSP1
|
909 |
968 |
4.95e-2 |
SMART |
TSP1
|
970 |
1017 |
6.58e-5 |
SMART |
low complexity region
|
1115 |
1129 |
N/A |
INTRINSIC |
low complexity region
|
1158 |
1178 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0605 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.4%
- 20x: 90.7%
|
Validation Efficiency |
78% (155/199) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004P03Rik |
T |
A |
12: 17,057,183 (GRCm39) |
T105S |
possibly damaging |
Het |
Abca13 |
G |
A |
11: 9,243,493 (GRCm39) |
M1785I |
probably benign |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Ank2 |
G |
T |
3: 126,728,264 (GRCm39) |
D776E |
probably benign |
Het |
Cep152 |
T |
A |
2: 125,460,373 (GRCm39) |
K193M |
possibly damaging |
Het |
Cep55 |
C |
T |
19: 38,048,769 (GRCm39) |
L142F |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,470,206 (GRCm39) |
Y1884C |
probably damaging |
Het |
Clasp1 |
T |
C |
1: 118,471,034 (GRCm39) |
L890P |
probably damaging |
Het |
Cul9 |
C |
A |
17: 46,848,589 (GRCm39) |
E716* |
probably null |
Het |
Cytip |
T |
A |
2: 58,050,006 (GRCm39) |
D21V |
probably benign |
Het |
Denr |
T |
G |
5: 124,062,908 (GRCm39) |
F137C |
probably damaging |
Het |
Dhrs3 |
A |
T |
4: 144,646,618 (GRCm39) |
S197C |
probably damaging |
Het |
Egr4 |
A |
T |
6: 85,489,751 (GRCm39) |
M103K |
probably damaging |
Het |
Eif4enif1 |
C |
T |
11: 3,192,676 (GRCm39) |
Q835* |
probably null |
Het |
Gckr |
A |
G |
5: 31,463,883 (GRCm39) |
I268V |
probably benign |
Het |
Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
Hpd |
T |
C |
5: 123,319,544 (GRCm39) |
Y8C |
probably damaging |
Het |
Il12rb2 |
A |
T |
6: 67,338,889 (GRCm39) |
F16I |
probably benign |
Het |
Ildr2 |
A |
T |
1: 166,135,289 (GRCm39) |
Y347F |
probably damaging |
Het |
Kcnv1 |
T |
C |
15: 44,976,729 (GRCm39) |
D186G |
probably damaging |
Het |
Khdrbs2 |
A |
G |
1: 32,558,996 (GRCm39) |
|
probably null |
Het |
L1cam |
G |
T |
X: 72,913,364 (GRCm39) |
P16H |
probably damaging |
Het |
Lyn |
A |
G |
4: 3,746,768 (GRCm39) |
H161R |
probably damaging |
Het |
Mctp2 |
T |
A |
7: 71,863,864 (GRCm39) |
|
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mitf |
A |
C |
6: 97,973,401 (GRCm39) |
M220L |
probably benign |
Het |
Mrpl21 |
T |
C |
19: 3,334,807 (GRCm39) |
Y50H |
possibly damaging |
Het |
Myh1 |
T |
A |
11: 67,104,237 (GRCm39) |
L968Q |
probably damaging |
Het |
Myo3b |
A |
G |
2: 69,925,502 (GRCm39) |
K18E |
possibly damaging |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nlrp2 |
T |
A |
7: 5,330,729 (GRCm39) |
T556S |
possibly damaging |
Het |
Nsmf |
T |
C |
2: 24,949,096 (GRCm39) |
|
probably benign |
Het |
Nsun7 |
C |
T |
5: 66,452,856 (GRCm39) |
P558S |
probably benign |
Het |
Or10h5 |
G |
A |
17: 33,435,079 (GRCm39) |
R80C |
probably benign |
Het |
Or1e34 |
T |
G |
11: 73,778,563 (GRCm39) |
I212L |
probably benign |
Het |
Or56a3 |
T |
C |
7: 104,735,135 (GRCm39) |
S71P |
probably damaging |
Het |
Or5d40 |
A |
T |
2: 88,015,698 (GRCm39) |
Y159F |
possibly damaging |
Het |
Phf19 |
T |
C |
2: 34,785,966 (GRCm39) |
N501S |
probably benign |
Het |
Ranbp17 |
A |
C |
11: 33,450,682 (GRCm39) |
I85S |
probably damaging |
Het |
Robo1 |
A |
G |
16: 72,730,230 (GRCm39) |
|
probably benign |
Het |
Sntg1 |
A |
G |
1: 8,749,286 (GRCm39) |
|
probably benign |
Het |
Snx15 |
A |
G |
19: 6,173,943 (GRCm39) |
L58P |
probably damaging |
Het |
Spink5 |
G |
T |
18: 44,110,831 (GRCm39) |
C134F |
probably damaging |
Het |
Strip2 |
T |
C |
6: 29,920,532 (GRCm39) |
|
probably null |
Het |
Taf1d |
C |
T |
9: 15,221,240 (GRCm39) |
A182V |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,796,380 (GRCm39) |
V475A |
possibly damaging |
Het |
Tent4b |
T |
A |
8: 88,926,631 (GRCm39) |
Y14N |
possibly damaging |
Het |
Tgds |
A |
T |
14: 118,353,647 (GRCm39) |
H223Q |
possibly damaging |
Het |
Thoc2 |
G |
T |
X: 40,952,985 (GRCm39) |
S230Y |
probably benign |
Het |
Tm9sf4 |
T |
A |
2: 153,033,065 (GRCm39) |
V290E |
probably damaging |
Het |
Trak2 |
A |
T |
1: 58,965,883 (GRCm39) |
L97Q |
probably damaging |
Het |
Trnau1ap |
A |
G |
4: 132,041,656 (GRCm39) |
Y145H |
probably damaging |
Het |
Vars2 |
A |
T |
17: 35,970,048 (GRCm39) |
D780E |
probably damaging |
Het |
Vmn1r170 |
T |
A |
7: 23,305,735 (GRCm39) |
S46T |
possibly damaging |
Het |
Vmn1r20 |
A |
T |
6: 57,408,777 (GRCm39) |
R34S |
possibly damaging |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Wdr64 |
T |
C |
1: 175,622,668 (GRCm39) |
M805T |
probably benign |
Het |
Xdh |
G |
A |
17: 74,198,213 (GRCm39) |
R1225C |
probably damaging |
Het |
Zfp341 |
T |
A |
2: 154,466,914 (GRCm39) |
Y94* |
probably null |
Het |
Zfp641 |
T |
C |
15: 98,186,970 (GRCm39) |
N218D |
probably benign |
Het |
Zscan22 |
T |
C |
7: 12,638,014 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Adamts3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00160:Adamts3
|
APN |
5 |
90,009,184 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00340:Adamts3
|
APN |
5 |
89,849,525 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00923:Adamts3
|
APN |
5 |
89,832,235 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01420:Adamts3
|
APN |
5 |
89,850,916 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL01522:Adamts3
|
APN |
5 |
89,850,802 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01676:Adamts3
|
APN |
5 |
90,029,402 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL01676:Adamts3
|
APN |
5 |
89,825,613 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01678:Adamts3
|
APN |
5 |
89,855,715 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01936:Adamts3
|
APN |
5 |
90,009,282 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01956:Adamts3
|
APN |
5 |
89,825,770 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02342:Adamts3
|
APN |
5 |
89,839,332 (GRCm39) |
splice site |
probably null |
|
IGL02415:Adamts3
|
APN |
5 |
89,854,506 (GRCm39) |
splice site |
probably null |
|
IGL03261:Adamts3
|
APN |
5 |
90,030,756 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL03301:Adamts3
|
APN |
5 |
89,855,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R0041:Adamts3
|
UTSW |
5 |
89,832,326 (GRCm39) |
missense |
probably benign |
|
R0096:Adamts3
|
UTSW |
5 |
89,849,576 (GRCm39) |
nonsense |
probably null |
|
R0096:Adamts3
|
UTSW |
5 |
89,849,576 (GRCm39) |
nonsense |
probably null |
|
R0477:Adamts3
|
UTSW |
5 |
89,832,366 (GRCm39) |
missense |
probably benign |
|
R0605:Adamts3
|
UTSW |
5 |
90,009,334 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1036:Adamts3
|
UTSW |
5 |
89,843,952 (GRCm39) |
splice site |
probably benign |
|
R1462:Adamts3
|
UTSW |
5 |
90,009,208 (GRCm39) |
missense |
probably benign |
0.17 |
R1462:Adamts3
|
UTSW |
5 |
90,009,208 (GRCm39) |
missense |
probably benign |
0.17 |
R1621:Adamts3
|
UTSW |
5 |
89,869,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R1799:Adamts3
|
UTSW |
5 |
89,923,280 (GRCm39) |
missense |
probably benign |
0.00 |
R2163:Adamts3
|
UTSW |
5 |
89,856,577 (GRCm39) |
missense |
probably damaging |
0.99 |
R2412:Adamts3
|
UTSW |
5 |
89,849,630 (GRCm39) |
missense |
probably damaging |
0.99 |
R2420:Adamts3
|
UTSW |
5 |
89,831,034 (GRCm39) |
missense |
probably damaging |
0.97 |
R2421:Adamts3
|
UTSW |
5 |
89,831,034 (GRCm39) |
missense |
probably damaging |
0.97 |
R2422:Adamts3
|
UTSW |
5 |
89,831,034 (GRCm39) |
missense |
probably damaging |
0.97 |
R2921:Adamts3
|
UTSW |
5 |
90,009,393 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2922:Adamts3
|
UTSW |
5 |
90,009,393 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2923:Adamts3
|
UTSW |
5 |
90,009,393 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3402:Adamts3
|
UTSW |
5 |
89,849,592 (GRCm39) |
missense |
probably benign |
0.04 |
R3431:Adamts3
|
UTSW |
5 |
89,855,312 (GRCm39) |
splice site |
probably benign |
|
R3432:Adamts3
|
UTSW |
5 |
89,855,312 (GRCm39) |
splice site |
probably benign |
|
R3813:Adamts3
|
UTSW |
5 |
89,825,785 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3816:Adamts3
|
UTSW |
5 |
89,853,123 (GRCm39) |
missense |
probably damaging |
0.99 |
R3905:Adamts3
|
UTSW |
5 |
90,009,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R3906:Adamts3
|
UTSW |
5 |
90,009,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R3907:Adamts3
|
UTSW |
5 |
90,009,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R3908:Adamts3
|
UTSW |
5 |
90,009,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R4557:Adamts3
|
UTSW |
5 |
89,848,346 (GRCm39) |
missense |
probably benign |
0.03 |
R4684:Adamts3
|
UTSW |
5 |
89,850,866 (GRCm39) |
missense |
probably damaging |
0.98 |
R4844:Adamts3
|
UTSW |
5 |
89,825,675 (GRCm39) |
missense |
probably damaging |
0.99 |
R4925:Adamts3
|
UTSW |
5 |
89,832,182 (GRCm39) |
missense |
probably benign |
0.01 |
R5097:Adamts3
|
UTSW |
5 |
89,840,909 (GRCm39) |
missense |
probably damaging |
0.97 |
R5100:Adamts3
|
UTSW |
5 |
89,856,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R5237:Adamts3
|
UTSW |
5 |
89,923,236 (GRCm39) |
missense |
probably benign |
|
R5265:Adamts3
|
UTSW |
5 |
90,009,411 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5322:Adamts3
|
UTSW |
5 |
89,855,159 (GRCm39) |
splice site |
probably null |
|
R5413:Adamts3
|
UTSW |
5 |
89,856,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R5459:Adamts3
|
UTSW |
5 |
89,839,332 (GRCm39) |
splice site |
probably null |
|
R5738:Adamts3
|
UTSW |
5 |
89,856,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R5979:Adamts3
|
UTSW |
5 |
90,009,528 (GRCm39) |
missense |
probably damaging |
0.96 |
R5992:Adamts3
|
UTSW |
5 |
89,839,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R6364:Adamts3
|
UTSW |
5 |
89,869,673 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6572:Adamts3
|
UTSW |
5 |
90,009,468 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7098:Adamts3
|
UTSW |
5 |
90,009,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R7172:Adamts3
|
UTSW |
5 |
90,030,860 (GRCm39) |
start gained |
probably benign |
|
R7263:Adamts3
|
UTSW |
5 |
89,825,601 (GRCm39) |
missense |
probably benign |
0.03 |
R7401:Adamts3
|
UTSW |
5 |
89,855,309 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7599:Adamts3
|
UTSW |
5 |
90,009,256 (GRCm39) |
missense |
probably benign |
0.00 |
R7829:Adamts3
|
UTSW |
5 |
90,009,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R7835:Adamts3
|
UTSW |
5 |
89,848,299 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7892:Adamts3
|
UTSW |
5 |
90,009,288 (GRCm39) |
missense |
probably benign |
0.10 |
R8021:Adamts3
|
UTSW |
5 |
89,831,043 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8289:Adamts3
|
UTSW |
5 |
89,923,282 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8350:Adamts3
|
UTSW |
5 |
89,850,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R8468:Adamts3
|
UTSW |
5 |
89,842,627 (GRCm39) |
missense |
probably benign |
0.19 |
R8827:Adamts3
|
UTSW |
5 |
89,839,324 (GRCm39) |
missense |
probably benign |
0.03 |
R8864:Adamts3
|
UTSW |
5 |
89,854,981 (GRCm39) |
intron |
probably benign |
|
R8906:Adamts3
|
UTSW |
5 |
89,825,575 (GRCm39) |
missense |
probably damaging |
0.98 |
R9000:Adamts3
|
UTSW |
5 |
89,854,570 (GRCm39) |
missense |
probably benign |
0.17 |
R9005:Adamts3
|
UTSW |
5 |
89,825,693 (GRCm39) |
missense |
probably benign |
0.08 |
R9378:Adamts3
|
UTSW |
5 |
89,848,269 (GRCm39) |
nonsense |
probably null |
|
R9505:Adamts3
|
UTSW |
5 |
89,855,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R9516:Adamts3
|
UTSW |
5 |
89,834,750 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Adamts3
|
UTSW |
5 |
89,850,901 (GRCm39) |
missense |
possibly damaging |
0.75 |
Z1088:Adamts3
|
UTSW |
5 |
89,832,308 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Adamts3
|
UTSW |
5 |
89,923,210 (GRCm39) |
missense |
not run |
|
Z1177:Adamts3
|
UTSW |
5 |
89,923,210 (GRCm39) |
missense |
not run |
|
Z1177:Adamts3
|
UTSW |
5 |
89,855,723 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGCCAAAGGAAGTTCCCCATACAG -3'
(R):5'- TTGCTACGAGTCATGAGCACTGCC -3'
Sequencing Primer
(F):5'- tgggaggcagaggcagg -3'
(R):5'- CACTGCCATATAATAAATGTGTGCCC -3'
|
Posted On |
2013-04-11 |