Incidental Mutation 'IGL03269:Adamtsl2'
| ID |
415206 |
| 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 # |
IGL03269
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
26969391-26998993 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 26998367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 930
(C930*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091233]
[ENSMUST00000151224]
|
| AlphaFold |
Q7TSK7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000091233
AA Change: C930*
|
| SMART Domains |
Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: C930*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130600
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139633
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151224
|
| SMART Domains |
Protein: ENSMUSP00000127556
Gene: ENSMUSG00000009216
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM163
|
1 |
167 |
1.2e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169787
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
A |
T |
1: 72,704,360 (GRCm39) |
V854E |
probably damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,895,767 (GRCm39) |
L579Q |
probably damaging |
Het |
| Clip2 |
G |
T |
5: 134,545,748 (GRCm39) |
H314Q |
probably damaging |
Het |
| Fbxo28 |
A |
G |
1: 182,144,583 (GRCm39) |
V327A |
possibly damaging |
Het |
| Gdap1 |
T |
A |
1: 17,231,729 (GRCm39) |
F358Y |
probably benign |
Het |
| Ift70a2 |
T |
C |
2: 75,808,479 (GRCm39) |
D11G |
possibly damaging |
Het |
| Ighv1-18 |
T |
C |
12: 114,646,466 (GRCm39) |
Y46C |
probably damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,404,472 (GRCm39) |
F531Y |
probably damaging |
Het |
| Irf6 |
A |
G |
1: 192,844,906 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,248,409 (GRCm39) |
T1632A |
probably damaging |
Het |
| Odad3 |
A |
G |
9: 21,909,339 (GRCm39) |
|
probably null |
Het |
| Or4l1 |
T |
A |
14: 50,166,165 (GRCm39) |
T279S |
probably damaging |
Het |
| Or5b3 |
T |
A |
19: 13,388,792 (GRCm39) |
N286K |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,197 (GRCm39) |
T10A |
probably benign |
Het |
| Osgepl1 |
C |
A |
1: 53,360,271 (GRCm39) |
Y332* |
probably null |
Het |
| Pibf1 |
G |
A |
14: 99,425,171 (GRCm39) |
A553T |
probably damaging |
Het |
| Prpf38b |
A |
G |
3: 108,812,557 (GRCm39) |
F219L |
probably benign |
Het |
| Pwp1 |
C |
A |
10: 85,718,768 (GRCm39) |
Q312K |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,665,403 (GRCm39) |
V185A |
possibly damaging |
Het |
| Serpina3k |
T |
C |
12: 104,306,780 (GRCm39) |
I4T |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,178 (GRCm39) |
V145A |
probably damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,968,280 (GRCm39) |
D480G |
possibly damaging |
Het |
| Tdpoz4 |
G |
A |
3: 93,704,144 (GRCm39) |
C147Y |
probably damaging |
Het |
| Tlr4 |
C |
A |
4: 66,759,033 (GRCm39) |
P609T |
probably damaging |
Het |
| Trgv4 |
T |
A |
13: 19,369,622 (GRCm39) |
I122K |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,054,936 (GRCm39) |
K927E |
probably damaging |
Het |
| Vmn1r71 |
G |
A |
7: 10,482,571 (GRCm39) |
T39I |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,995,820 (GRCm39) |
L276P |
probably damaging |
Het |
| Zfp335 |
C |
A |
2: 164,742,274 (GRCm39) |
R570L |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation