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) question?
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

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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