Incidental Mutation 'R8089:Adamtsl2'
| ID |
629823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl2
|
| Ensembl Gene |
ENSMUSG00000036040 |
| Gene Name |
ADAMTS-like 2 |
| Synonyms |
A930008K15Rik |
| MMRRC Submission |
067522-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8089 (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 26994809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 828
(M828V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091233]
|
| AlphaFold |
Q7TSK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091233
AA Change: M828V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: M828V
| 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 |
0.0597 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 94.7%
|
| Validation Efficiency |
93% (54/58) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,104,383 (GRCm39) |
V768I |
probably benign |
Het |
| Abcc8 |
G |
A |
7: 45,757,780 (GRCm39) |
T1323I |
probably benign |
Het |
| Agmo |
A |
G |
12: 37,397,306 (GRCm39) |
D153G |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,260,340 (GRCm39) |
V185D |
possibly damaging |
Het |
| Asic1 |
A |
G |
15: 99,595,968 (GRCm39) |
N414D |
probably damaging |
Het |
| Bin1 |
T |
A |
18: 32,562,236 (GRCm39) |
|
probably null |
Het |
| Ccar1 |
C |
A |
10: 62,626,770 (GRCm39) |
M1I |
probably null |
Het |
| Cdh26 |
T |
A |
2: 178,099,370 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
C |
T |
15: 47,532,603 (GRCm39) |
D1620N |
|
Het |
| Dennd4a |
A |
T |
9: 64,756,457 (GRCm39) |
N204I |
probably damaging |
Het |
| Dgkb |
G |
A |
12: 38,234,949 (GRCm39) |
S438N |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,021,897 (GRCm39) |
M1604T |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,684,971 (GRCm39) |
D456V |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,902,771 (GRCm39) |
T86M |
probably damaging |
Het |
| Idua |
T |
A |
5: 108,829,646 (GRCm39) |
M503K |
probably damaging |
Het |
| Ift70b |
T |
C |
2: 75,767,647 (GRCm39) |
T369A |
possibly damaging |
Het |
| Ighm |
T |
C |
12: 113,384,854 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,740,750 (GRCm39) |
S4676T |
unknown |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lmtk2 |
G |
A |
5: 144,093,718 (GRCm39) |
V232M |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,722,567 (GRCm39) |
V243A |
possibly damaging |
Het |
| Moxd1 |
A |
G |
10: 24,157,417 (GRCm39) |
T350A |
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,537,372 (GRCm39) |
W1175R |
probably damaging |
Het |
| Or10u4 |
A |
T |
10: 129,802,566 (GRCm39) |
M1K |
probably null |
Het |
| Or5h27 |
T |
G |
16: 59,006,073 (GRCm39) |
I258L |
unknown |
Het |
| Or8g26 |
T |
A |
9: 39,095,927 (GRCm39) |
V148E |
probably damaging |
Het |
| Pacsin2 |
A |
G |
15: 83,263,897 (GRCm39) |
I380T |
probably benign |
Het |
| Plcd1 |
A |
C |
9: 118,905,060 (GRCm39) |
C214G |
possibly damaging |
Het |
| Poglut3 |
C |
T |
9: 53,307,262 (GRCm39) |
A402V |
probably benign |
Het |
| Ptprm |
C |
A |
17: 66,990,483 (GRCm39) |
W1385L |
possibly damaging |
Het |
| Rab22a |
C |
T |
2: 173,530,013 (GRCm39) |
Q64* |
probably null |
Het |
| Rasa2 |
G |
T |
9: 96,435,177 (GRCm39) |
H604Q |
probably benign |
Het |
| Rasal1 |
G |
A |
5: 120,809,643 (GRCm39) |
G516D |
probably damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,804,056 (GRCm39) |
I120L |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rgs12 |
T |
C |
5: 35,177,692 (GRCm39) |
I742T |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,763,996 (GRCm39) |
T121A |
possibly damaging |
Het |
| Six5 |
T |
G |
7: 18,828,797 (GRCm39) |
F79C |
probably damaging |
Het |
| Tbx3 |
G |
A |
5: 119,818,634 (GRCm39) |
R423H |
probably damaging |
Het |
| Terf2ip |
C |
T |
8: 112,738,424 (GRCm39) |
T104M |
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,805,703 (GRCm39) |
C234R |
probably damaging |
Het |
| Tnxb |
C |
G |
17: 34,891,763 (GRCm39) |
A702G |
unknown |
Het |
| Tspan1 |
T |
C |
4: 116,021,532 (GRCm39) |
K83R |
probably null |
Het |
| Ttn |
C |
T |
2: 76,728,406 (GRCm39) |
|
probably null |
Het |
| Usp5 |
A |
T |
6: 124,797,373 (GRCm39) |
|
probably null |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,194 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Vmn2r110 |
G |
A |
17: 20,803,807 (GRCm39) |
T256I |
probably benign |
Het |
| Zfp831 |
T |
A |
2: 174,486,717 (GRCm39) |
L464Q |
possibly damaging |
Het |
| Zscan4-ps3 |
C |
A |
7: 11,346,659 (GRCm39) |
H232N |
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 |
|
R7437:Adamtsl2
|
UTSW |
2 |
26,979,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- ATCTGGATGGGGCCAAATGG -3'
(R):5'- CAGGCCTCATCTAAAGCAGTCTC -3'
Sequencing Primer
(F):5'- AATCCCCCAGCTGAGAGTG -3'
(R):5'- TCATCTAAAGCAGTCTCAGCGGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation