Incidental Mutation 'IGL01902:Adamtsl2'
| ID |
179550 |
| 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 # |
IGL01902
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
26969391-26998993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26977264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 242
(I242F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091233]
|
| AlphaFold |
Q7TSK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091233
AA Change: I242F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: I242F
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,147,267 (GRCm39) |
S228P |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,789,933 (GRCm39) |
L284P |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,309,181 (GRCm39) |
I138T |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,737,731 (GRCm39) |
L2704S |
probably damaging |
Het |
| Col7a1 |
C |
A |
9: 108,806,895 (GRCm39) |
P2442T |
unknown |
Het |
| Cpne6 |
A |
T |
14: 55,750,207 (GRCm39) |
T113S |
possibly damaging |
Het |
| Crnkl1 |
T |
C |
2: 145,766,632 (GRCm39) |
|
probably null |
Het |
| Cyp2c67 |
T |
A |
19: 39,637,470 (GRCm39) |
D2V |
probably damaging |
Het |
| Frzb |
T |
A |
2: 80,243,711 (GRCm39) |
S323C |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Ins2 |
C |
T |
7: 142,233,179 (GRCm39) |
C31Y |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,948,179 (GRCm39) |
N234Y |
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,698,720 (GRCm39) |
F73L |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,395,919 (GRCm39) |
|
probably null |
Het |
| Pcnx1 |
A |
G |
12: 82,025,868 (GRCm39) |
T1538A |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,940,732 (GRCm39) |
V47D |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,096,002 (GRCm39) |
E502G |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,156,934 (GRCm39) |
V1886M |
probably damaging |
Het |
| Rapgef3 |
T |
A |
15: 97,648,181 (GRCm39) |
H676L |
probably benign |
Het |
| Rbm20 |
A |
T |
19: 53,829,422 (GRCm39) |
N607Y |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,237,132 (GRCm39) |
T233I |
possibly damaging |
Het |
| Snx13 |
A |
T |
12: 35,183,306 (GRCm39) |
|
probably null |
Het |
| Suz12 |
T |
A |
11: 79,916,776 (GRCm39) |
C510S |
probably benign |
Het |
| Tab2 |
A |
T |
10: 7,795,756 (GRCm39) |
M242K |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,103,548 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
IGL02655:Adamtsl2
|
APN |
2 |
26,972,542 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2014-05-07 |
Incidental Mutation