Incidental Mutation 'IGL02655:Adamtsl2'
| ID |
302326 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adamtsl2
|
| Ensembl Gene |
ENSMUSG00000036040 |
| Gene Name |
ADAMTS-like 2 |
| Synonyms |
A930008K15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02655
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
26969391-26998993 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 26972542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091233]
|
| AlphaFold |
Q7TSK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091233
|
| SMART Domains |
Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
TSP1
|
50 |
106 |
5.14e-7 |
SMART |
|
Pfam:ADAM_spacer1
|
214 |
331 |
5.4e-28 |
PFAM |
|
low complexity region
|
345 |
358 |
N/A |
INTRINSIC |
|
TSP1
|
573 |
629 |
8.15e-1 |
SMART |
|
TSP1
|
631 |
692 |
1.85e-2 |
SMART |
|
TSP1
|
694 |
744 |
4.15e-1 |
SMART |
|
TSP1
|
747 |
796 |
9.98e-5 |
SMART |
|
TSP1
|
803 |
861 |
4.95e-2 |
SMART |
|
TSP1
|
863 |
914 |
2.53e-6 |
SMART |
|
Pfam:PLAC
|
922 |
953 |
1.4e-12 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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) and ADAMTS-like 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 protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous null mice die shortly after birth, are cyanotic and exhibit respiratory distress. Severe bronchial epithelial dysplasia with abnormal glycogen-rich inclusions in the bronchial epithelium is observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
A |
T |
2: 35,270,498 (GRCm39) |
S68T |
possibly damaging |
Het |
| 4930544G11Rik |
T |
G |
6: 65,930,074 (GRCm39) |
V103G |
probably damaging |
Het |
| Adam7 |
A |
T |
14: 68,754,060 (GRCm39) |
D346E |
probably damaging |
Het |
| Adamts1 |
A |
G |
16: 85,599,505 (GRCm39) |
S32P |
probably benign |
Het |
| Adgrb2 |
C |
A |
4: 129,885,972 (GRCm39) |
Y37* |
probably null |
Het |
| Apba3 |
A |
G |
10: 81,108,788 (GRCm39) |
R547G |
probably benign |
Het |
| Ccnd2 |
C |
T |
6: 127,125,733 (GRCm39) |
G101D |
probably damaging |
Het |
| Cpm |
A |
G |
10: 117,519,186 (GRCm39) |
T365A |
probably benign |
Het |
| Cpt2 |
A |
G |
4: 107,764,624 (GRCm39) |
V380A |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,155,461 (GRCm39) |
|
probably benign |
Het |
| Enpp1 |
A |
C |
10: 24,553,872 (GRCm39) |
D105E |
probably damaging |
Het |
| Ermp1 |
C |
A |
19: 29,623,610 (GRCm39) |
E127* |
probably null |
Het |
| Evi5 |
T |
C |
5: 107,961,446 (GRCm39) |
K375R |
probably benign |
Het |
| Gm11564 |
A |
T |
11: 99,705,982 (GRCm39) |
C149* |
probably null |
Het |
| Golgb1 |
A |
T |
16: 36,738,442 (GRCm39) |
E2260D |
probably damaging |
Het |
| Gpc2 |
T |
C |
5: 138,277,187 (GRCm39) |
D80G |
possibly damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,248,960 (GRCm39) |
I151V |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,901,473 (GRCm39) |
I1058T |
possibly damaging |
Het |
| Krtap4-8 |
A |
T |
11: 99,671,454 (GRCm39) |
|
probably benign |
Het |
| Me1 |
A |
G |
9: 86,536,780 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,315,748 (GRCm39) |
R38H |
probably damaging |
Het |
| Nsmaf |
A |
G |
4: 6,424,933 (GRCm39) |
F272L |
possibly damaging |
Het |
| Pcyox1 |
A |
T |
6: 86,366,326 (GRCm39) |
V78E |
probably damaging |
Het |
| Pkp1 |
G |
T |
1: 135,817,511 (GRCm39) |
T208N |
probably benign |
Het |
| Plagl2 |
T |
C |
2: 153,074,337 (GRCm39) |
E188G |
probably damaging |
Het |
| Pramel15 |
A |
G |
4: 144,099,416 (GRCm39) |
F450L |
probably benign |
Het |
| Relch |
G |
A |
1: 105,605,971 (GRCm39) |
V204M |
probably damaging |
Het |
| Ric1 |
T |
A |
19: 29,572,851 (GRCm39) |
S764T |
probably damaging |
Het |
| Sec24a |
G |
A |
11: 51,625,482 (GRCm39) |
T247M |
probably benign |
Het |
| Slc25a17 |
C |
T |
15: 81,207,844 (GRCm39) |
R248Q |
probably benign |
Het |
| Stk36 |
C |
T |
1: 74,673,694 (GRCm39) |
P1068S |
probably damaging |
Het |
| Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
| Tfec |
C |
T |
6: 16,834,308 (GRCm39) |
A200T |
possibly damaging |
Het |
| Vmn2r4 |
A |
G |
3: 64,305,886 (GRCm39) |
I512T |
probably damaging |
Het |
|
| Other mutations in Adamtsl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Adamtsl2
|
APN |
2 |
26,975,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01902:Adamtsl2
|
APN |
2 |
26,977,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02207:Adamtsl2
|
APN |
2 |
26,992,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02247:Adamtsl2
|
APN |
2 |
26,974,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02253:Adamtsl2
|
APN |
2 |
26,988,709 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03148:Adamtsl2
|
APN |
2 |
26,974,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03269:Adamtsl2
|
APN |
2 |
26,998,367 (GRCm39) |
nonsense |
probably null |
|
|
R0609:Adamtsl2
|
UTSW |
2 |
26,979,647 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1183:Adamtsl2
|
UTSW |
2 |
26,974,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1443:Adamtsl2
|
UTSW |
2 |
26,993,078 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1675:Adamtsl2
|
UTSW |
2 |
26,972,497 (GRCm39) |
frame shift |
probably null |
|
|
R1698:Adamtsl2
|
UTSW |
2 |
26,993,139 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1765:Adamtsl2
|
UTSW |
2 |
26,992,842 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1934:Adamtsl2
|
UTSW |
2 |
26,979,605 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2106:Adamtsl2
|
UTSW |
2 |
26,992,837 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2108:Adamtsl2
|
UTSW |
2 |
26,985,570 (GRCm39) |
missense |
probably benign |
|
|
R2189:Adamtsl2
|
UTSW |
2 |
26,971,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2232:Adamtsl2
|
UTSW |
2 |
26,993,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4301:Adamtsl2
|
UTSW |
2 |
26,977,295 (GRCm39) |
missense |
probably null |
1.00 |
|
R4518:Adamtsl2
|
UTSW |
2 |
26,985,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4572:Adamtsl2
|
UTSW |
2 |
26,973,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4627:Adamtsl2
|
UTSW |
2 |
26,983,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4668:Adamtsl2
|
UTSW |
2 |
26,985,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4686:Adamtsl2
|
UTSW |
2 |
26,983,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4821:Adamtsl2
|
UTSW |
2 |
26,988,604 (GRCm39) |
splice site |
probably null |
|
|
R5054:Adamtsl2
|
UTSW |
2 |
26,991,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5460:Adamtsl2
|
UTSW |
2 |
26,985,410 (GRCm39) |
splice site |
probably null |
|
|
R5569:Adamtsl2
|
UTSW |
2 |
26,992,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Adamtsl2
|
UTSW |
2 |
26,971,736 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6836:Adamtsl2
|
UTSW |
2 |
26,971,718 (GRCm39) |
start codon destroyed |
probably null |
0.90 |
|
R7103:Adamtsl2
|
UTSW |
2 |
26,997,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7437:Adamtsl2
|
UTSW |
2 |
26,979,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8089:Adamtsl2
|
UTSW |
2 |
26,994,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8389:Adamtsl2
|
UTSW |
2 |
26,993,136 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9284:Adamtsl2
|
UTSW |
2 |
26,994,055 (GRCm39) |
splice site |
probably benign |
|
|
R9566:Adamtsl2
|
UTSW |
2 |
26,979,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9772:Adamtsl2
|
UTSW |
2 |
26,985,666 (GRCm39) |
missense |
probably benign |
|
|
X0003:Adamtsl2
|
UTSW |
2 |
26,971,785 (GRCm39) |
small deletion |
probably benign |
|
|
X0003:Adamtsl2
|
UTSW |
2 |
26,971,784 (GRCm39) |
small deletion |
probably benign |
|
|
Z1176:Adamtsl2
|
UTSW |
2 |
26,971,732 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2015-04-16 |
Incidental Mutation