Incidental Mutation 'R4301:Adamtsl2'
| ID |
322402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl2
|
| Ensembl Gene |
ENSMUSG00000036040 |
| Gene Name |
ADAMTS-like 2 |
| Synonyms |
A930008K15Rik |
| MMRRC Submission |
041088-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4301 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26969391-26998993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26977295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 252
(D252G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091233]
|
| AlphaFold |
Q7TSK7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000091233
AA Change: D252G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: D252G
| 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 |
|
| Meta Mutation Damage Score |
0.5155 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
A |
16: 56,377,266 (GRCm39) |
V95D |
probably damaging |
Het |
| Adgra3 |
T |
C |
5: 50,118,420 (GRCm39) |
R1043G |
possibly damaging |
Het |
| Atxn7l1 |
A |
G |
12: 33,417,237 (GRCm39) |
D562G |
probably damaging |
Het |
| Ccdc70 |
T |
C |
8: 22,463,228 (GRCm39) |
V6A |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,718,810 (GRCm39) |
V337A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Crb1 |
A |
G |
1: 139,176,568 (GRCm39) |
S472P |
probably benign |
Het |
| Fam193b |
G |
A |
13: 55,690,417 (GRCm39) |
R740* |
probably null |
Het |
| Fer |
G |
T |
17: 64,385,905 (GRCm39) |
L292F |
probably damaging |
Het |
| Gmppa |
G |
A |
1: 75,419,140 (GRCm39) |
R349H |
possibly damaging |
Het |
| Hspa1a |
T |
C |
17: 35,189,482 (GRCm39) |
I474V |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lrrc30 |
A |
G |
17: 67,939,563 (GRCm39) |
S6P |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,478,358 (GRCm39) |
S133P |
probably damaging |
Het |
| Mrtfb |
T |
C |
16: 13,216,169 (GRCm39) |
Y294H |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,236,106 (GRCm39) |
F122I |
possibly damaging |
Het |
| Mypn |
A |
G |
10: 62,954,263 (GRCm39) |
Y124H |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,082,327 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
T |
C |
4: 43,641,332 (GRCm39) |
|
probably null |
Het |
| Or5a3 |
T |
C |
19: 12,400,081 (GRCm39) |
L136P |
probably damaging |
Het |
| Pgm2 |
G |
A |
5: 64,261,140 (GRCm39) |
W51* |
probably null |
Het |
| Phip |
G |
A |
9: 82,841,766 (GRCm39) |
R48* |
probably null |
Het |
| Piezo2 |
T |
C |
18: 63,217,911 (GRCm39) |
T1075A |
probably damaging |
Het |
| Ppat |
G |
T |
5: 77,076,348 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 43,031,811 (GRCm39) |
E23D |
probably null |
Het |
| Prickle1 |
T |
C |
15: 93,406,517 (GRCm39) |
I169V |
possibly damaging |
Het |
| Rab37 |
T |
A |
11: 115,049,390 (GRCm39) |
D95E |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,627,234 (GRCm39) |
V50A |
probably benign |
Het |
| Siae |
C |
A |
9: 37,545,009 (GRCm39) |
Q335K |
possibly damaging |
Het |
| Snx14 |
A |
T |
9: 88,292,676 (GRCm39) |
I217K |
probably damaging |
Het |
| Son |
A |
G |
16: 91,455,299 (GRCm39) |
T1349A |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,659,471 (GRCm39) |
L1143S |
probably damaging |
Het |
| Trim80 |
T |
C |
11: 115,335,939 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
T |
C |
19: 22,964,656 (GRCm39) |
S1374P |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,215,802 (GRCm39) |
D266E |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Zbtb10 |
A |
T |
3: 9,330,220 (GRCm39) |
Q526L |
probably damaging |
Het |
| Zfr2 |
T |
C |
10: 81,078,018 (GRCm39) |
|
probably benign |
Het |
| Zswim8 |
G |
A |
14: 20,763,977 (GRCm39) |
R449H |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,779,861 (GRCm39) |
V1878A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTATGCAGGTACCCTTTACAG -3'
(R):5'- TTGTCCAGCACCTCTAAGGAC -3'
Sequencing Primer
(F):5'- GTACCCTTTACAGAGCTCAGAGATG -3'
(R):5'- TGTCCAGCACCTCTAAGGACAATTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation