Incidental Mutation 'R7437:Adamtsl2'
ID |
576654 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamtsl2
|
Ensembl Gene |
ENSMUSG00000036040 |
Gene Name |
ADAMTS-like 2 |
Synonyms |
A930008K15Rik |
MMRRC Submission |
045513-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7437 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26969391-26998993 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26979721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 297
(I297V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091233]
|
AlphaFold |
Q7TSK7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091233
AA Change: I297V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000088774 Gene: ENSMUSG00000036040 AA Change: I297V
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (54/55) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
A |
T |
17: 24,619,472 (GRCm39) |
I1192F |
probably damaging |
Het |
Abca8a |
A |
G |
11: 109,941,790 (GRCm39) |
S1160P |
probably benign |
Het |
Aebp1 |
T |
A |
11: 5,819,757 (GRCm39) |
F687L |
possibly damaging |
Het |
Ahsa1 |
A |
G |
12: 87,314,930 (GRCm39) |
T28A |
probably damaging |
Het |
Akap3 |
A |
T |
6: 126,842,618 (GRCm39) |
K412N |
probably damaging |
Het |
Atl1 |
A |
G |
12: 69,978,396 (GRCm39) |
I123V |
probably benign |
Het |
Atp10a |
G |
A |
7: 58,308,288 (GRCm39) |
R29H |
unknown |
Het |
C4b |
T |
C |
17: 34,953,707 (GRCm39) |
D967G |
probably benign |
Het |
Ccdc186 |
T |
C |
19: 56,795,429 (GRCm39) |
N416S |
probably damaging |
Het |
Ccna2 |
T |
C |
3: 36,625,239 (GRCm39) |
|
probably benign |
Het |
Cep70 |
T |
C |
9: 99,173,582 (GRCm39) |
L371P |
probably damaging |
Het |
Cfap46 |
A |
T |
7: 139,230,753 (GRCm39) |
C958* |
probably null |
Het |
Crlf2 |
T |
C |
5: 109,702,839 (GRCm39) |
D318G |
probably benign |
Het |
Csf1 |
T |
C |
3: 107,658,072 (GRCm39) |
N14D |
probably benign |
Het |
Dars1 |
A |
G |
1: 128,299,941 (GRCm39) |
Y348H |
possibly damaging |
Het |
Dnah2 |
T |
C |
11: 69,389,453 (GRCm39) |
E813G |
probably damaging |
Het |
Ebi3 |
T |
A |
17: 56,261,410 (GRCm39) |
M102K |
probably benign |
Het |
Epg5 |
A |
G |
18: 78,066,493 (GRCm39) |
D2131G |
probably benign |
Het |
Fam186a |
A |
T |
15: 99,840,775 (GRCm39) |
L1823H |
probably damaging |
Het |
H2-M3 |
T |
C |
17: 37,583,569 (GRCm39) |
M309T |
probably benign |
Het |
Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
Ino80 |
A |
G |
2: 119,273,067 (GRCm39) |
S470P |
possibly damaging |
Het |
Kcnh5 |
C |
T |
12: 75,184,417 (GRCm39) |
|
probably null |
Het |
Kif24 |
T |
C |
4: 41,404,687 (GRCm39) |
T438A |
possibly damaging |
Het |
Kndc1 |
G |
A |
7: 139,488,959 (GRCm39) |
G205R |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,712,657 (GRCm39) |
Y3226N |
|
Het |
Lrp1b |
G |
T |
2: 40,712,658 (GRCm39) |
D3225E |
|
Het |
Megf10 |
G |
C |
18: 57,395,203 (GRCm39) |
G522R |
probably damaging |
Het |
Nectin2 |
A |
T |
7: 19,483,193 (GRCm39) |
L12* |
probably null |
Het |
Ngef |
A |
T |
1: 87,408,327 (GRCm39) |
M580K |
probably damaging |
Het |
Oga |
A |
T |
19: 45,767,046 (GRCm39) |
M110K |
possibly damaging |
Het |
Or10ag56 |
A |
G |
2: 87,139,687 (GRCm39) |
M205V |
probably benign |
Het |
Or1e1c |
A |
G |
11: 73,265,844 (GRCm39) |
S93G |
probably benign |
Het |
Or5an1b |
T |
C |
19: 12,299,472 (GRCm39) |
N240D |
probably damaging |
Het |
Pcdhb13 |
T |
C |
18: 37,577,728 (GRCm39) |
L702P |
probably damaging |
Het |
Pcdhb17 |
A |
G |
18: 37,619,145 (GRCm39) |
I312V |
probably benign |
Het |
Pglyrp3 |
A |
G |
3: 91,937,985 (GRCm39) |
N265D |
probably benign |
Het |
Pkd1l2 |
A |
G |
8: 117,757,421 (GRCm39) |
V1539A |
probably damaging |
Het |
Prxl2b |
C |
A |
4: 154,981,053 (GRCm39) |
C194F |
possibly damaging |
Het |
Rcn2 |
T |
C |
9: 55,965,353 (GRCm39) |
L274P |
probably damaging |
Het |
Rpp30 |
A |
G |
19: 36,081,838 (GRCm39) |
E267G |
possibly damaging |
Het |
Rundc3a |
A |
G |
11: 102,289,230 (GRCm39) |
M134V |
probably damaging |
Het |
Samd3 |
A |
T |
10: 26,146,004 (GRCm39) |
Q343L |
possibly damaging |
Het |
Serpinb3c |
A |
T |
1: 107,199,444 (GRCm39) |
F359Y |
probably damaging |
Het |
Slc9a9 |
T |
C |
9: 95,110,994 (GRCm39) |
L604P |
probably benign |
Het |
Strn3 |
A |
T |
12: 51,656,946 (GRCm39) |
H777Q |
probably damaging |
Het |
Tap1 |
G |
A |
17: 34,409,616 (GRCm39) |
W284* |
probably null |
Het |
Tlcd5 |
C |
T |
9: 43,023,080 (GRCm39) |
W91* |
probably null |
Het |
Tmem181a |
A |
G |
17: 6,353,540 (GRCm39) |
D384G |
possibly damaging |
Het |
Txndc12 |
T |
C |
4: 108,713,368 (GRCm39) |
S77P |
probably damaging |
Het |
Wnt16 |
G |
A |
6: 22,288,560 (GRCm39) |
V19M |
probably benign |
Het |
Zfp932 |
T |
A |
5: 110,157,880 (GRCm39) |
M526K |
probably benign |
Het |
Zfp959 |
G |
T |
17: 56,205,334 (GRCm39) |
C457F |
probably damaging |
Het |
Zscan4-ps3 |
T |
C |
7: 11,346,863 (GRCm39) |
S300P |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGCCTGTATGCTGACTC -3'
(R):5'- TGATCACAGAATGGGATGGC -3'
Sequencing Primer
(F):5'- TGTATGCTGACTCCTCCCTG -3'
(R):5'- CAACAGTTCTGAATGGATGGATG -3'
|
Posted On |
2019-10-07 |