Incidental Mutation 'R2108:Adamtsl2'
ID 232226
Institutional Source Beutler Lab
Gene Symbol Adamtsl2
Ensembl Gene ENSMUSG00000036040
Gene Name ADAMTS-like 2
Synonyms A930008K15Rik
MMRRC Submission 040112-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2108 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 26969391-26998993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26985570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 485 (M485V)
Ref Sequence ENSEMBL: ENSMUSP00000088774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091233]
AlphaFold Q7TSK7
Predicted Effect probably benign
Transcript: ENSMUST00000091233
AA Change: M485V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040
AA Change: M485V

DomainStartEndE-ValueType
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: ENSMUST00000143246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169787
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd10 A G 16: 45,552,303 (GRCm39) M190T probably benign Het
Abhd5 A G 9: 122,207,005 (GRCm39) Y250C probably damaging Het
Ace2 A G X: 162,923,728 (GRCm39) N24S probably benign Het
Adamtsl4 G T 3: 95,588,357 (GRCm39) P577H probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Apc T C 18: 34,402,282 (GRCm39) Y141H probably damaging Het
Arsi A T 18: 61,049,443 (GRCm39) T109S possibly damaging Het
Asb3 G A 11: 31,031,355 (GRCm39) probably null Het
Atm T C 9: 53,355,297 (GRCm39) D2899G probably damaging Het
Bcas3 G A 11: 85,348,704 (GRCm39) V199I probably damaging Het
Bub1 T C 2: 127,661,255 (GRCm39) K279E probably damaging Het
C3 A T 17: 57,530,974 (GRCm39) probably null Het
Cabcoco1 T C 10: 68,267,153 (GRCm39) K185E probably benign Het
Cadm2 A T 16: 66,528,357 (GRCm39) I326N probably benign Het
Ccr3 T C 9: 123,829,336 (GRCm39) S224P possibly damaging Het
Cdhr4 A G 9: 107,874,843 (GRCm39) T638A probably damaging Het
Cfap46 T C 7: 139,263,677 (GRCm39) I4V probably benign Het
Csf2rb2 A T 15: 78,176,744 (GRCm39) V216E probably damaging Het
Csmd3 A T 15: 47,868,257 (GRCm39) D754E possibly damaging Het
Dnaaf1 T C 8: 120,309,471 (GRCm39) probably null Het
Dnah11 A C 12: 117,984,088 (GRCm39) Y2466D probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
E2f7 T C 10: 110,616,763 (GRCm39) Y668H probably benign Het
Ehmt1 A T 2: 24,727,630 (GRCm39) S735T probably damaging Het
Eomes T C 9: 118,307,920 (GRCm39) F65L probably benign Het
Ercc6l2 T C 13: 64,019,802 (GRCm39) probably benign Het
Fbrsl1 A T 5: 110,526,300 (GRCm39) L439Q probably damaging Het
Fyco1 C T 9: 123,626,581 (GRCm39) probably null Het
Gfm2 A G 13: 97,291,950 (GRCm39) T229A probably benign Het
Gm7735 G A 16: 88,966,433 (GRCm39) G19D unknown Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gpr6 T A 10: 40,946,649 (GRCm39) Y311F possibly damaging Het
Gprc6a A T 10: 51,491,304 (GRCm39) V744E probably damaging Het
Grin3a C T 4: 49,665,510 (GRCm39) D1042N possibly damaging Het
Gstm3 A G 3: 107,873,450 (GRCm39) C174R probably damaging Het
Hectd4 A G 5: 121,471,487 (GRCm39) E2670G possibly damaging Het
Hsd3b6 A T 3: 98,713,503 (GRCm39) Y265* probably null Het
Hus1 T A 11: 8,961,110 (GRCm39) M1L probably null Het
Idi2l G A 13: 8,991,764 (GRCm39) P221S possibly damaging Het
Ifi213 T G 1: 173,396,668 (GRCm39) probably null Het
Igf2r A C 17: 12,917,138 (GRCm39) N1587K probably benign Het
Ints1 A T 5: 139,753,505 (GRCm39) V709E probably damaging Het
Ints8 C A 4: 11,235,552 (GRCm39) R359L probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrp1b C T 2: 41,000,769 (GRCm39) E2152K probably damaging Het
Lrp2 A T 2: 69,336,968 (GRCm39) V1268D possibly damaging Het
Mpo T C 11: 87,686,901 (GRCm39) Y177H probably damaging Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mprip A G 11: 59,660,717 (GRCm39) K2166R probably damaging Het
Myo15a T C 11: 60,382,636 (GRCm39) Y1544H probably damaging Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nfxl1 C A 5: 72,671,675 (GRCm39) probably null Het
Nrp2 T A 1: 62,783,436 (GRCm39) I179N probably damaging Het
Nup153 A G 13: 46,846,986 (GRCm39) probably null Het
Or1j4 C A 2: 36,740,355 (GRCm39) A99E possibly damaging Het
Or2g7 G T 17: 38,378,746 (GRCm39) R228L possibly damaging Het
Or5p54 A T 7: 107,554,709 (GRCm39) H287L probably benign Het
Or6c6c A T 10: 129,541,490 (GRCm39) I248L probably benign Het
Or8g27 A T 9: 39,129,318 (GRCm39) I222F probably damaging Het
P2ry12 A T 3: 59,124,774 (GRCm39) D300E probably damaging Het
Pkhd1 C A 1: 20,623,798 (GRCm39) G766* probably null Het
Plagl1 A C 10: 13,004,391 (GRCm39) probably benign Het
Prkcq A T 2: 11,237,380 (GRCm39) Y53F probably damaging Het
Psg18 T C 7: 18,084,799 (GRCm39) E99G probably damaging Het
Ptprz1 T A 6: 23,033,476 (GRCm39) H1921Q probably damaging Het
Rcc1l A G 5: 134,184,629 (GRCm39) V391A probably benign Het
Sdr42e1 C T 8: 118,391,763 (GRCm39) V11I probably damaging Het
Slc12a3 C A 8: 95,067,158 (GRCm39) N404K probably damaging Het
Slc38a4 T C 15: 96,906,878 (GRCm39) M287V probably benign Het
Slc6a8 A T X: 72,720,492 (GRCm39) I96F possibly damaging Het
Smyd2 A G 1: 189,629,623 (GRCm39) S136P probably damaging Het
Sox11 A G 12: 27,391,702 (GRCm39) Y236H probably damaging Het
Tbc1d2 G A 4: 46,637,652 (GRCm39) P198L possibly damaging Het
Tcof1 G T 18: 60,968,845 (GRCm39) A256E probably damaging Het
Tenm4 A G 7: 96,555,497 (GRCm39) Y2726C probably damaging Het
Tnfsf14 T A 17: 57,497,867 (GRCm39) R122W probably damaging Het
Tril T C 6: 53,796,068 (GRCm39) T385A probably damaging Het
Trrap A G 5: 144,762,684 (GRCm39) T2386A probably benign Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Uba7 A G 9: 107,856,487 (GRCm39) M595V probably benign Het
Usp43 GC G 11: 67,746,566 (GRCm39) probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vmn2r69 T C 7: 85,059,404 (GRCm39) I502V probably benign Het
Vps13d C A 4: 144,801,617 (GRCm39) G419C probably damaging Het
Zbtb25 A T 12: 76,396,880 (GRCm39) M114K probably benign Het
Zcchc4 A G 5: 52,953,474 (GRCm39) Y161C probably damaging Het
Zfp292 A T 4: 34,808,593 (GRCm39) F1484I possibly damaging Het
Zfp326 A G 5: 106,062,646 (GRCm39) probably benign Het
Zfp395 T A 14: 65,630,565 (GRCm39) S372T probably benign Het
Zfp423 T A 8: 88,507,806 (GRCm39) E825V possibly damaging Het
Zfp445 A T 9: 122,681,305 (GRCm39) Y879N probably benign Het
Zfp451 A G 1: 33,818,248 (GRCm39) I77T possibly damaging Het
Zfp85 A T 13: 67,897,003 (GRCm39) S356R probably benign Het
Other mutations in Adamtsl2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CATGGCTGTTGAAACACCTGTC -3'
(R):5'- ACCTTGCCTTGTGAGTCCTG -3'

Sequencing Primer
(F):5'- GTCTCTCTGCAGACCACAATG -3'
(R):5'- TGTTCCCAGCCAAGTTGG -3'
Posted On 2014-09-18