Incidental Mutation 'R5054:Adamtsl2'
ID |
390684 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamtsl2
|
Ensembl Gene |
ENSMUSG00000036040 |
Gene Name |
ADAMTS-like 2 |
Synonyms |
A930008K15Rik |
MMRRC Submission |
042644-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5054 (G1)
|
Quality Score |
140 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26969391-26998993 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 26991732 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 627
(E627K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091233]
|
AlphaFold |
Q7TSK7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091233
AA Change: E627K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000088774 Gene: ENSMUSG00000036040 AA Change: E627K
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 |
noncoding transcript
Transcript: ENSMUST00000143246
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169787
|
Meta Mutation Damage Score |
0.3833 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
94% (67/71) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
A |
G |
13: 59,837,315 (GRCm39) |
Y257H |
probably damaging |
Het |
Adam28 |
C |
T |
14: 68,855,164 (GRCm39) |
C659Y |
probably damaging |
Het |
Atad5 |
T |
A |
11: 79,985,502 (GRCm39) |
S196R |
probably benign |
Het |
Bcam |
T |
A |
7: 19,490,785 (GRCm39) |
|
probably benign |
Het |
Birc6 |
A |
G |
17: 74,962,320 (GRCm39) |
H3978R |
probably damaging |
Het |
Btbd7 |
T |
C |
12: 102,804,471 (GRCm39) |
I190V |
probably benign |
Het |
Ccdc8 |
T |
C |
7: 16,728,970 (GRCm39) |
V153A |
probably damaging |
Het |
Cyp2a5 |
C |
G |
7: 26,540,529 (GRCm39) |
R68G |
probably damaging |
Het |
Dock3 |
T |
C |
9: 106,815,105 (GRCm39) |
Y1254C |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,085,007 (GRCm39) |
E2794G |
possibly damaging |
Het |
Dytn |
C |
A |
1: 63,700,318 (GRCm39) |
V271L |
possibly damaging |
Het |
Eif1ad15 |
T |
C |
12: 88,288,071 (GRCm39) |
I61V |
probably benign |
Het |
Eif2s2 |
A |
C |
2: 154,734,590 (GRCm39) |
|
probably null |
Het |
Fndc7 |
A |
G |
3: 108,788,663 (GRCm39) |
S193P |
probably damaging |
Het |
Fzr1 |
G |
A |
10: 81,207,253 (GRCm39) |
|
probably benign |
Het |
Gm17472 |
T |
C |
6: 42,957,938 (GRCm39) |
I69T |
probably damaging |
Het |
Gmppa |
C |
A |
1: 75,416,015 (GRCm39) |
Y137* |
probably null |
Het |
Gpr45 |
A |
G |
1: 43,071,809 (GRCm39) |
I151V |
probably benign |
Het |
H1f0 |
G |
A |
15: 78,912,973 (GRCm39) |
A18T |
probably damaging |
Het |
Hbb-bh1 |
C |
T |
7: 103,491,063 (GRCm39) |
V114I |
probably benign |
Het |
Impa2 |
C |
A |
18: 67,439,797 (GRCm39) |
P98Q |
probably damaging |
Het |
Kazn |
T |
C |
4: 141,835,957 (GRCm39) |
N573D |
unknown |
Het |
Kcna2 |
A |
T |
3: 107,011,656 (GRCm39) |
D79V |
probably damaging |
Het |
Kcna7 |
G |
A |
7: 45,056,015 (GRCm39) |
R77H |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,956,122 (GRCm39) |
Y561H |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Klra1 |
T |
A |
6: 130,352,247 (GRCm39) |
Q165L |
probably damaging |
Het |
Mat2b |
T |
A |
11: 40,570,869 (GRCm39) |
R318S |
probably damaging |
Het |
Mgat4d |
G |
A |
8: 84,094,837 (GRCm39) |
|
probably null |
Het |
Mtor |
T |
A |
4: 148,641,312 (GRCm39) |
|
probably null |
Het |
Nostrin |
A |
T |
2: 69,006,057 (GRCm39) |
Q247L |
possibly damaging |
Het |
Obi1 |
C |
T |
14: 104,745,466 (GRCm39) |
G70E |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,964,443 (GRCm39) |
E3033G |
probably damaging |
Het |
Pam |
C |
A |
1: 97,749,642 (GRCm39) |
D839Y |
probably damaging |
Het |
Pds5a |
A |
G |
5: 65,795,157 (GRCm39) |
V693A |
probably damaging |
Het |
Pigo |
A |
T |
4: 43,021,337 (GRCm39) |
L535Q |
probably damaging |
Het |
Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
Ptar1 |
G |
T |
19: 23,671,729 (GRCm39) |
R44L |
probably damaging |
Het |
Rad51c |
T |
C |
11: 87,288,580 (GRCm39) |
H201R |
probably benign |
Het |
Rims2 |
A |
T |
15: 39,381,265 (GRCm39) |
|
probably null |
Het |
Rpl22l1 |
T |
G |
3: 28,860,985 (GRCm39) |
S67A |
possibly damaging |
Het |
Rps10 |
A |
G |
17: 27,849,454 (GRCm39) |
S143P |
probably damaging |
Het |
Rundc1 |
T |
C |
11: 101,315,967 (GRCm39) |
V13A |
probably benign |
Het |
Sephs2 |
C |
A |
7: 126,872,564 (GRCm39) |
M176I |
probably benign |
Het |
Serpina16 |
C |
T |
12: 103,641,189 (GRCm39) |
V179I |
probably benign |
Het |
Serpini2 |
T |
A |
3: 75,166,784 (GRCm39) |
T158S |
probably damaging |
Het |
Slc12a3 |
A |
G |
8: 95,072,979 (GRCm39) |
R701G |
probably damaging |
Het |
Slc1a6 |
A |
G |
10: 78,650,436 (GRCm39) |
E558G |
probably damaging |
Het |
Ssx2ip |
T |
C |
3: 146,136,672 (GRCm39) |
|
probably benign |
Het |
Tbr1 |
A |
T |
2: 61,636,346 (GRCm39) |
I241F |
possibly damaging |
Het |
Tgfa |
G |
C |
6: 86,247,064 (GRCm39) |
|
probably null |
Het |
Tlr12 |
T |
A |
4: 128,511,063 (GRCm39) |
K396* |
probably null |
Het |
Tmppe |
A |
G |
9: 114,235,026 (GRCm39) |
I442V |
probably benign |
Het |
Tubb3 |
T |
C |
8: 124,147,607 (GRCm39) |
V180A |
probably damaging |
Het |
Vmn1r222 |
A |
G |
13: 23,416,901 (GRCm39) |
V104A |
probably damaging |
Het |
Vmn2r95 |
G |
T |
17: 18,671,708 (GRCm39) |
V482L |
possibly damaging |
Het |
Zfp184 |
G |
T |
13: 22,143,452 (GRCm39) |
R386L |
possibly damaging |
Het |
Zfp444 |
T |
A |
7: 6,192,792 (GRCm39) |
V270E |
probably damaging |
Het |
Zfp985 |
A |
T |
4: 147,667,438 (GRCm39) |
Y102F |
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 |
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 |
|
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'- GGCTCACCCTATATCTGTTGGTG -3'
(R):5'- ATGTTTAGTCACCATCCCGTG -3'
Sequencing Primer
(F):5'- GGTGTCCAAGGTATTCCCTGTTAAC -3'
(R):5'- AGTCACCATCCCGTGTGCTC -3'
|
Posted On |
2016-06-06 |