Incidental Mutation 'R5118:Adamts2'
| ID |
392755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts2
|
| Ensembl Gene |
ENSMUSG00000036545 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 2 |
| Synonyms |
a disintegrin and metalloproteinase with thrombospondin repeats, hPCPNI, ADAM-TS2, procollagen N-proteinase |
| MMRRC Submission |
042706-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R5118 (G1)
|
| Quality Score |
195 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
50492912-50698400 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50672696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 648
(E648G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040523]
|
| AlphaFold |
Q8C9W3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040523
AA Change: E648G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040171
Gene: ENSMUSG00000036545
AA Change: E648G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
52 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
56 |
211 |
2.6e-39 |
PFAM |
|
low complexity region
|
214 |
225 |
N/A |
INTRINSIC |
|
coiled coil region
|
236 |
260 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
265 |
450 |
1.4e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
267 |
464 |
7.1e-11 |
PFAM |
|
Pfam:Reprolysin
|
268 |
471 |
2.4e-20 |
PFAM |
|
Pfam:Reprolysin_2
|
285 |
463 |
9.1e-14 |
PFAM |
|
Pfam:Reprolysin_3
|
289 |
420 |
8.7e-13 |
PFAM |
|
TSP1
|
565 |
617 |
9.73e-17 |
SMART |
|
Pfam:ADAM_spacer1
|
724 |
838 |
5.1e-33 |
PFAM |
|
low complexity region
|
839 |
853 |
N/A |
INTRINSIC |
|
TSP1
|
858 |
915 |
1.05e-3 |
SMART |
|
TSP1
|
918 |
977 |
2.78e-3 |
SMART |
|
TSP1
|
980 |
1030 |
4.99e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127534
|
| Meta Mutation Damage Score |
0.2112 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
96% (52/54) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin repeats) family of proteinases that is involved in the proteolytic processing of procollagens. The encoded protein precursor is proteolytically processed to generate a mature, zinc-dependent enzyme. Mice lacking the encoded protein develop abnormal lungs, fragile skin and male sterility. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous mutation of this gene results in a short snout, male infertility, and thin skin that is torn by scratching or handling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Ankrd55 |
A |
G |
13: 112,492,473 (GRCm39) |
S187G |
probably benign |
Het |
| Cd44 |
C |
A |
2: 102,695,715 (GRCm39) |
E52D |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,814,204 (GRCm39) |
I603F |
unknown |
Het |
| Dmxl2 |
C |
A |
9: 54,368,271 (GRCm39) |
R233L |
probably damaging |
Het |
| Dop1a |
T |
C |
9: 86,388,312 (GRCm39) |
F429L |
probably damaging |
Het |
| Epsti1 |
T |
G |
14: 78,224,122 (GRCm39) |
|
probably null |
Het |
| Erfe |
G |
T |
1: 91,298,438 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
A |
G |
2: 57,905,015 (GRCm39) |
D526G |
probably damaging |
Het |
| Gatd1 |
A |
T |
7: 140,986,719 (GRCm39) |
|
probably benign |
Het |
| Gm1330 |
T |
C |
2: 148,844,906 (GRCm39) |
|
probably benign |
Het |
| Gm6181 |
G |
A |
7: 52,405,364 (GRCm39) |
|
noncoding transcript |
Het |
| Irak2 |
T |
A |
6: 113,642,772 (GRCm39) |
V68D |
probably benign |
Het |
| Kdm1a |
A |
G |
4: 136,284,669 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
C |
A |
12: 25,042,296 (GRCm39) |
Q198K |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,244 (GRCm39) |
V728A |
possibly damaging |
Het |
| Micall2 |
G |
A |
5: 139,702,202 (GRCm39) |
T347M |
probably damaging |
Het |
| Mrap2 |
T |
C |
9: 87,064,756 (GRCm39) |
F166L |
possibly damaging |
Het |
| Msh3 |
A |
T |
13: 92,445,942 (GRCm39) |
|
probably benign |
Het |
| Mul1 |
T |
A |
4: 138,166,660 (GRCm39) |
L238Q |
probably damaging |
Het |
| Nuak1 |
G |
T |
10: 84,210,848 (GRCm39) |
H413Q |
probably benign |
Het |
| Or10j27 |
T |
C |
1: 172,958,484 (GRCm39) |
Q100R |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,248,002 (GRCm39) |
A931T |
probably damaging |
Het |
| Pramel20 |
T |
C |
4: 143,297,697 (GRCm39) |
L39P |
probably damaging |
Het |
| Pramel34 |
T |
A |
5: 93,785,656 (GRCm39) |
D208V |
probably benign |
Het |
| Psmb4 |
T |
C |
3: 94,792,253 (GRCm39) |
Y223C |
probably damaging |
Het |
| Rbm15b |
G |
T |
9: 106,763,301 (GRCm39) |
A289E |
possibly damaging |
Het |
| Reg3b |
T |
A |
6: 78,349,111 (GRCm39) |
V79E |
probably damaging |
Het |
| Rsl1 |
A |
G |
13: 67,330,045 (GRCm39) |
I164M |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,250,285 (GRCm39) |
F217L |
probably benign |
Het |
| Sfmbt1 |
T |
C |
14: 30,512,727 (GRCm39) |
L360P |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,248,822 (GRCm39) |
V611A |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,542,293 (GRCm39) |
D1935E |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,093,044 (GRCm39) |
|
probably null |
Het |
| Tmppe |
T |
G |
9: 114,234,549 (GRCm39) |
S283A |
probably benign |
Het |
| Tmtc1 |
A |
G |
6: 148,171,485 (GRCm39) |
|
probably benign |
Het |
| Trp63 |
T |
C |
16: 25,707,760 (GRCm39) |
I552T |
unknown |
Het |
| Tspan2 |
C |
A |
3: 102,657,151 (GRCm39) |
D45E |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,377,489 (GRCm39) |
D966E |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,712,745 (GRCm39) |
E1396G |
probably benign |
Het |
| Usp17lc |
A |
T |
7: 103,067,868 (GRCm39) |
T388S |
probably benign |
Het |
| Wdr46 |
T |
C |
17: 34,167,811 (GRCm39) |
V508A |
possibly damaging |
Het |
| Zfp462 |
T |
A |
4: 55,010,667 (GRCm39) |
Y878N |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp954 |
T |
A |
7: 7,118,714 (GRCm39) |
T277S |
probably benign |
Het |
|
| Other mutations in Adamts2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01309:Adamts2
|
APN |
11 |
50,694,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01366:Adamts2
|
APN |
11 |
50,687,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01412:Adamts2
|
APN |
11 |
50,686,230 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01443:Adamts2
|
APN |
11 |
50,694,690 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL01974:Adamts2
|
APN |
11 |
50,667,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02267:Adamts2
|
APN |
11 |
50,683,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02498:Adamts2
|
APN |
11 |
50,668,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02498:Adamts2
|
APN |
11 |
50,664,135 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02626:Adamts2
|
APN |
11 |
50,667,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02634:Adamts2
|
APN |
11 |
50,683,548 (GRCm39) |
nonsense |
probably null |
|
|
IGL02643:Adamts2
|
APN |
11 |
50,679,527 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02836:Adamts2
|
APN |
11 |
50,678,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03012:Adamts2
|
APN |
11 |
50,667,096 (GRCm39) |
splice site |
probably benign |
|
|
ANU22:Adamts2
|
UTSW |
11 |
50,628,190 (GRCm39) |
missense |
probably benign |
0.06 |
|
H8441:Adamts2
|
UTSW |
11 |
50,675,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0050:Adamts2
|
UTSW |
11 |
50,666,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0050:Adamts2
|
UTSW |
11 |
50,666,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Adamts2
|
UTSW |
11 |
50,666,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Adamts2
|
UTSW |
11 |
50,666,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Adamts2
|
UTSW |
11 |
50,667,457 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0501:Adamts2
|
UTSW |
11 |
50,558,972 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0570:Adamts2
|
UTSW |
11 |
50,666,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0588:Adamts2
|
UTSW |
11 |
50,667,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0647:Adamts2
|
UTSW |
11 |
50,494,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0760:Adamts2
|
UTSW |
11 |
50,666,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0784:Adamts2
|
UTSW |
11 |
50,558,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Adamts2
|
UTSW |
11 |
50,670,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1623:Adamts2
|
UTSW |
11 |
50,558,942 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1641:Adamts2
|
UTSW |
11 |
50,683,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Adamts2
|
UTSW |
11 |
50,647,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2163:Adamts2
|
UTSW |
11 |
50,679,632 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2177:Adamts2
|
UTSW |
11 |
50,668,055 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2508:Adamts2
|
UTSW |
11 |
50,679,516 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3721:Adamts2
|
UTSW |
11 |
50,664,038 (GRCm39) |
splice site |
probably benign |
|
|
R4092:Adamts2
|
UTSW |
11 |
50,678,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4691:Adamts2
|
UTSW |
11 |
50,647,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Adamts2
|
UTSW |
11 |
50,683,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4809:Adamts2
|
UTSW |
11 |
50,694,517 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4823:Adamts2
|
UTSW |
11 |
50,628,014 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4927:Adamts2
|
UTSW |
11 |
50,694,639 (GRCm39) |
nonsense |
probably null |
|
|
R4976:Adamts2
|
UTSW |
11 |
50,628,193 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5478:Adamts2
|
UTSW |
11 |
50,683,478 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5660:Adamts2
|
UTSW |
11 |
50,667,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5734:Adamts2
|
UTSW |
11 |
50,679,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5865:Adamts2
|
UTSW |
11 |
50,694,781 (GRCm39) |
nonsense |
probably null |
|
|
R6079:Adamts2
|
UTSW |
11 |
50,647,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6138:Adamts2
|
UTSW |
11 |
50,647,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Adamts2
|
UTSW |
11 |
50,666,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6540:Adamts2
|
UTSW |
11 |
50,679,567 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6897:Adamts2
|
UTSW |
11 |
50,627,991 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7103:Adamts2
|
UTSW |
11 |
50,628,181 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7229:Adamts2
|
UTSW |
11 |
50,682,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Adamts2
|
UTSW |
11 |
50,677,424 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7335:Adamts2
|
UTSW |
11 |
50,493,093 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7373:Adamts2
|
UTSW |
11 |
50,686,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7505:Adamts2
|
UTSW |
11 |
50,687,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7971:Adamts2
|
UTSW |
11 |
50,647,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8081:Adamts2
|
UTSW |
11 |
50,668,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8167:Adamts2
|
UTSW |
11 |
50,670,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8256:Adamts2
|
UTSW |
11 |
50,683,583 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8298:Adamts2
|
UTSW |
11 |
50,667,958 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8343:Adamts2
|
UTSW |
11 |
50,494,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8518:Adamts2
|
UTSW |
11 |
50,666,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8716:Adamts2
|
UTSW |
11 |
50,664,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Adamts2
|
UTSW |
11 |
50,672,571 (GRCm39) |
nonsense |
probably null |
|
|
R8968:Adamts2
|
UTSW |
11 |
50,683,550 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9436:Adamts2
|
UTSW |
11 |
50,694,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9694:Adamts2
|
UTSW |
11 |
50,558,972 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9720:Adamts2
|
UTSW |
11 |
50,666,954 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9750:Adamts2
|
UTSW |
11 |
50,494,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
U15987:Adamts2
|
UTSW |
11 |
50,647,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Adamts2
|
UTSW |
11 |
50,694,476 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Adamts2
|
UTSW |
11 |
50,683,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGCAGTCCAGCCAATG -3'
(R):5'- ACATCTGGTGTTCTGGTTCC -3'
Sequencing Primer
(F):5'- AATGGGGGCCGCACCTG -3'
(R):5'- TTGGAACTGAAGCCCTGTC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation