Incidental Mutation 'R1779:Adamts2'
ID 197366
Institutional Source Beutler Lab
Gene Symbol Adamts2
Ensembl Gene ENSMUSG00000036545
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 2
Synonyms a disintegrin and metalloproteinase with thrombospondin repeats, hPCPNI, ADAM-TS2, procollagen N-proteinase
MMRRC Submission 039810-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R1779 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 50492912-50698400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 50647524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 299 (V299G)
Ref Sequence ENSEMBL: ENSMUSP00000040171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040523]
AlphaFold Q8C9W3
Predicted Effect probably damaging
Transcript: ENSMUST00000040523
AA Change: V299G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040171
Gene: ENSMUSG00000036545
AA Change: V299G

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 44 52 N/A INTRINSIC
Pfam:Pep_M12B_propep 56 211 2.6e-39 PFAM
low complexity region 214 225 N/A INTRINSIC
coiled coil region 236 260 N/A INTRINSIC
Pfam:Reprolysin_5 265 450 1.4e-15 PFAM
Pfam:Reprolysin_4 267 464 7.1e-11 PFAM
Pfam:Reprolysin 268 471 2.4e-20 PFAM
Pfam:Reprolysin_2 285 463 9.1e-14 PFAM
Pfam:Reprolysin_3 289 420 8.7e-13 PFAM
TSP1 565 617 9.73e-17 SMART
Pfam:ADAM_spacer1 724 838 5.1e-33 PFAM
low complexity region 839 853 N/A INTRINSIC
TSP1 858 915 1.05e-3 SMART
TSP1 918 977 2.78e-3 SMART
TSP1 980 1030 4.99e-5 SMART
Meta Mutation Damage Score 0.7868 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 97% (101/104)
MGI Phenotype FUNCTION: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin repeats) family of proteinases that is involved in the proteolytic processing of procollagens. The encoded protein precursor is proteolytically processed to generate a mature, zinc-dependent enzyme. Mice lacking the encoded protein develop abnormal lungs, fragile skin and male sterility. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous mutation of this gene results in a short snout, male infertility, and thin skin that is torn by scratching or handling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,200,163 (GRCm39) L476F probably damaging Het
4930432E11Rik A T 7: 29,278,591 (GRCm39) noncoding transcript Het
A930011G23Rik A T 5: 99,370,897 (GRCm39) probably benign Het
Abcd3 A G 3: 121,575,612 (GRCm39) Y217H probably damaging Het
Abraxas1 A T 5: 100,965,822 (GRCm39) probably benign Het
Acsbg1 T C 9: 54,523,346 (GRCm39) Y427C probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam10 T A 9: 70,683,651 (GRCm39) probably benign Het
Adam24 G A 8: 41,134,004 (GRCm39) V491I possibly damaging Het
Adh7 A G 3: 137,929,752 (GRCm39) T143A probably damaging Het
Ahcyl1 A G 3: 107,581,419 (GRCm39) S81P probably benign Het
Arhgap20 C A 9: 51,761,215 (GRCm39) T986K probably benign Het
Atp13a5 A T 16: 29,133,478 (GRCm39) I391N possibly damaging Het
Atp6v0a1 C A 11: 100,917,511 (GRCm39) A143E probably benign Het
Calcrl A G 2: 84,181,629 (GRCm39) I173T probably damaging Het
Casz1 A G 4: 149,017,394 (GRCm39) T228A probably benign Het
Cckar A G 5: 53,857,321 (GRCm39) I292T probably damaging Het
Ccn5 G A 2: 163,670,906 (GRCm39) V138M probably damaging Het
Cfhr2 T A 1: 139,786,383 (GRCm39) probably null Het
Chkb T C 15: 89,313,260 (GRCm39) I109V possibly damaging Het
Clec2i T C 6: 128,865,069 (GRCm39) probably null Het
Clec4a4 T A 6: 123,000,934 (GRCm39) W216R probably damaging Het
Cntnap1 A C 11: 101,077,337 (GRCm39) I1000L probably damaging Het
Cp C A 3: 20,011,549 (GRCm39) D34E possibly damaging Het
Cse1l T C 2: 166,782,044 (GRCm39) probably null Het
Dennd3 T C 15: 73,394,357 (GRCm39) probably null Het
Dnah7a A G 1: 53,616,382 (GRCm39) V1193A probably benign Het
Eaf2 A G 16: 36,630,832 (GRCm39) probably null Het
Efcab3 T A 11: 104,611,765 (GRCm39) S536T probably benign Het
Ephb2 T C 4: 136,421,136 (GRCm39) T405A possibly damaging Het
Fam117a G A 11: 95,269,779 (GRCm39) V348M probably damaging Het
Fh1 T C 1: 175,428,990 (GRCm39) *167W probably null Het
Fmo9 T A 1: 166,490,868 (GRCm39) I486F probably benign Het
Gabbr1 T A 17: 37,365,771 (GRCm39) I150N probably damaging Het
Gfpt1 T C 6: 87,054,179 (GRCm39) V478A possibly damaging Het
Gm2663 A T 6: 40,974,894 (GRCm39) V59E probably damaging Het
Gm4868 T A 5: 125,925,176 (GRCm39) noncoding transcript Het
Heatr4 T A 12: 84,026,934 (GRCm39) T108S probably benign Het
Hells G T 19: 38,935,286 (GRCm39) A319S probably benign Het
Helz2 A G 2: 180,876,780 (GRCm39) V1238A probably benign Het
Helz2 T A 2: 180,880,252 (GRCm39) Q488L possibly damaging Het
Hkdc1 A G 10: 62,227,162 (GRCm39) F765S probably damaging Het
Hspg2 T A 4: 137,245,820 (GRCm39) W938R probably damaging Het
Itpr2 G A 6: 146,060,399 (GRCm39) R2473* probably null Het
Kctd1 C T 18: 15,194,839 (GRCm39) V595I probably benign Het
Krt7 A G 15: 101,321,290 (GRCm39) Y369C probably damaging Het
Krt72 T C 15: 101,689,364 (GRCm39) T323A probably benign Het
Krt76 A G 15: 101,801,122 (GRCm39) L58P unknown Het
Liph C A 16: 21,786,800 (GRCm39) R272L probably benign Het
Lrrc9 A T 12: 72,502,772 (GRCm39) K248* probably null Het
Mei4 T A 9: 81,809,195 (GRCm39) S93T probably damaging Het
Mgll T A 6: 88,790,930 (GRCm39) Y183* probably null Het
Myo5b A G 18: 74,875,218 (GRCm39) M1541V probably benign Het
Napg A G 18: 63,115,762 (GRCm39) E66G probably benign Het
Npr3 T C 15: 11,851,572 (GRCm39) D406G probably damaging Het
Nr2c2 A G 6: 92,136,224 (GRCm39) T355A possibly damaging Het
Or13j1 G A 4: 43,706,041 (GRCm39) H176Y probably damaging Het
Or4a71 A T 2: 89,357,989 (GRCm39) I255K probably benign Het
Or51m1 G T 7: 103,578,668 (GRCm39) V213L probably benign Het
Or51v8 A G 7: 103,319,845 (GRCm39) I131T probably benign Het
Or52z13 A T 7: 103,247,107 (GRCm39) I195F probably damaging Het
Or5b107 T C 19: 13,142,404 (GRCm39) Y9H probably benign Het
Or8d1 A G 9: 38,766,846 (GRCm39) M163V possibly damaging Het
Orai2 T C 5: 136,179,793 (GRCm39) E80G probably damaging Het
Pcdhb14 T A 18: 37,582,535 (GRCm39) V547E probably damaging Het
Pcdhb15 T C 18: 37,609,084 (GRCm39) I772T possibly damaging Het
Pcnt T C 10: 76,244,630 (GRCm39) Q1150R probably damaging Het
Pdcd6 A G 13: 74,453,700 (GRCm39) I146T probably damaging Het
Phldb2 T A 16: 45,621,988 (GRCm39) D664V probably damaging Het
Pik3ap1 A T 19: 41,320,673 (GRCm39) V182E probably damaging Het
Pip4k2a A G 2: 18,852,433 (GRCm39) V283A probably benign Het
Pkdrej A G 15: 85,705,372 (GRCm39) V188A possibly damaging Het
Pnpla6 T C 8: 3,591,404 (GRCm39) W1151R probably damaging Het
Ppp1r14c A G 10: 3,316,890 (GRCm39) Y75C probably damaging Het
Prl2b1 C T 13: 27,567,452 (GRCm39) D224N probably benign Het
Ptgis A G 2: 167,056,778 (GRCm39) S270P probably benign Het
Rgs11 C A 17: 26,429,640 (GRCm39) A446D probably damaging Het
Rims2 A G 15: 39,545,098 (GRCm39) T1531A probably damaging Het
Sbno1 A T 5: 124,526,580 (GRCm39) probably benign Het
Scarb2 C G 5: 92,596,416 (GRCm39) M409I probably benign Het
Scube3 C T 17: 28,387,353 (GRCm39) probably benign Het
Slc44a4 T C 17: 35,140,901 (GRCm39) I180T probably damaging Het
Slc9a2 T C 1: 40,781,803 (GRCm39) M344T probably damaging Het
Smc3 A T 19: 53,627,800 (GRCm39) T860S probably benign Het
Snrpa A G 7: 26,891,174 (GRCm39) I99T probably benign Het
Sorcs1 A G 19: 50,163,481 (GRCm39) probably benign Het
Sorl1 C T 9: 41,902,778 (GRCm39) probably null Het
Suds3 T C 5: 117,243,309 (GRCm39) K143R probably benign Het
Supt20 A T 3: 54,622,164 (GRCm39) M424L probably benign Het
Tgtp2 T C 11: 48,949,751 (GRCm39) M274V probably benign Het
Tmem158 T A 9: 123,088,974 (GRCm39) M213L probably benign Het
Tnks C A 8: 35,324,672 (GRCm39) R639L probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trmt10c A C 16: 55,854,938 (GRCm39) N232K possibly damaging Het
Trpm6 C T 19: 18,833,581 (GRCm39) R1587W probably damaging Het
Trrap G A 5: 144,765,400 (GRCm39) V2539I probably benign Het
Tsg101 A G 7: 46,556,835 (GRCm39) S115P probably benign Het
Ttll13 G T 7: 79,910,256 (GRCm39) V800L probably benign Het
Vmn1r57 A G 7: 5,223,576 (GRCm39) T34A possibly damaging Het
Vmn2r118 T A 17: 55,918,530 (GRCm39) T121S probably benign Het
Wdr35 A G 12: 9,035,772 (GRCm39) I238M possibly damaging Het
Zfp81 T A 17: 33,554,080 (GRCm39) T245S probably benign Het
Zfyve26 G T 12: 79,325,237 (GRCm39) P824Q probably damaging Het
Other mutations in Adamts2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Adamts2 APN 11 50,694,528 (GRCm39) missense probably benign 0.00
IGL01366:Adamts2 APN 11 50,687,295 (GRCm39) missense probably damaging 1.00
IGL01412:Adamts2 APN 11 50,686,230 (GRCm39) missense probably benign 0.43
IGL01443:Adamts2 APN 11 50,694,690 (GRCm39) missense possibly damaging 0.54
IGL01974:Adamts2 APN 11 50,667,001 (GRCm39) missense probably damaging 0.99
IGL02267:Adamts2 APN 11 50,683,505 (GRCm39) missense probably benign 0.00
IGL02498:Adamts2 APN 11 50,668,023 (GRCm39) missense probably damaging 1.00
IGL02498:Adamts2 APN 11 50,664,135 (GRCm39) missense possibly damaging 0.81
IGL02626:Adamts2 APN 11 50,667,082 (GRCm39) missense probably damaging 0.99
IGL02634:Adamts2 APN 11 50,683,548 (GRCm39) nonsense probably null
IGL02643:Adamts2 APN 11 50,679,527 (GRCm39) missense probably benign 0.01
IGL02836:Adamts2 APN 11 50,678,106 (GRCm39) missense probably damaging 1.00
IGL03012:Adamts2 APN 11 50,667,096 (GRCm39) splice site probably benign
ANU22:Adamts2 UTSW 11 50,628,190 (GRCm39) missense probably benign 0.06
H8441:Adamts2 UTSW 11 50,675,505 (GRCm39) missense probably damaging 1.00
R0050:Adamts2 UTSW 11 50,666,222 (GRCm39) missense probably damaging 1.00
R0050:Adamts2 UTSW 11 50,666,222 (GRCm39) missense probably damaging 1.00
R0240:Adamts2 UTSW 11 50,666,201 (GRCm39) missense probably damaging 1.00
R0240:Adamts2 UTSW 11 50,666,201 (GRCm39) missense probably damaging 1.00
R0491:Adamts2 UTSW 11 50,667,457 (GRCm39) missense probably damaging 0.98
R0501:Adamts2 UTSW 11 50,558,972 (GRCm39) missense probably benign 0.16
R0570:Adamts2 UTSW 11 50,666,963 (GRCm39) missense probably damaging 1.00
R0588:Adamts2 UTSW 11 50,667,491 (GRCm39) missense probably damaging 1.00
R0647:Adamts2 UTSW 11 50,494,265 (GRCm39) missense probably damaging 1.00
R0760:Adamts2 UTSW 11 50,666,153 (GRCm39) missense probably damaging 1.00
R0784:Adamts2 UTSW 11 50,558,830 (GRCm39) missense probably damaging 1.00
R1163:Adamts2 UTSW 11 50,670,541 (GRCm39) missense probably damaging 1.00
R1623:Adamts2 UTSW 11 50,558,942 (GRCm39) missense possibly damaging 0.79
R1641:Adamts2 UTSW 11 50,683,612 (GRCm39) missense probably damaging 1.00
R2163:Adamts2 UTSW 11 50,679,632 (GRCm39) missense probably benign 0.36
R2177:Adamts2 UTSW 11 50,668,055 (GRCm39) missense probably damaging 0.98
R2508:Adamts2 UTSW 11 50,679,516 (GRCm39) missense possibly damaging 0.82
R3721:Adamts2 UTSW 11 50,664,038 (GRCm39) splice site probably benign
R4092:Adamts2 UTSW 11 50,678,103 (GRCm39) missense probably damaging 0.99
R4691:Adamts2 UTSW 11 50,647,523 (GRCm39) missense probably damaging 1.00
R4785:Adamts2 UTSW 11 50,683,549 (GRCm39) missense probably benign 0.00
R4809:Adamts2 UTSW 11 50,694,517 (GRCm39) missense probably benign 0.17
R4823:Adamts2 UTSW 11 50,628,014 (GRCm39) missense probably benign 0.26
R4927:Adamts2 UTSW 11 50,694,639 (GRCm39) nonsense probably null
R4976:Adamts2 UTSW 11 50,628,193 (GRCm39) missense possibly damaging 0.67
R5118:Adamts2 UTSW 11 50,672,696 (GRCm39) missense probably damaging 0.99
R5478:Adamts2 UTSW 11 50,683,478 (GRCm39) missense possibly damaging 0.83
R5660:Adamts2 UTSW 11 50,667,472 (GRCm39) missense probably damaging 1.00
R5734:Adamts2 UTSW 11 50,679,494 (GRCm39) missense probably damaging 1.00
R5865:Adamts2 UTSW 11 50,694,781 (GRCm39) nonsense probably null
R6079:Adamts2 UTSW 11 50,647,533 (GRCm39) missense probably damaging 1.00
R6138:Adamts2 UTSW 11 50,647,533 (GRCm39) missense probably damaging 1.00
R6257:Adamts2 UTSW 11 50,666,153 (GRCm39) missense probably damaging 1.00
R6540:Adamts2 UTSW 11 50,679,567 (GRCm39) missense possibly damaging 0.77
R6897:Adamts2 UTSW 11 50,627,991 (GRCm39) critical splice acceptor site probably null
R7103:Adamts2 UTSW 11 50,628,181 (GRCm39) missense probably damaging 0.98
R7229:Adamts2 UTSW 11 50,682,647 (GRCm39) missense probably damaging 1.00
R7261:Adamts2 UTSW 11 50,677,424 (GRCm39) missense possibly damaging 0.48
R7335:Adamts2 UTSW 11 50,493,093 (GRCm39) missense probably benign 0.18
R7373:Adamts2 UTSW 11 50,686,262 (GRCm39) missense probably benign 0.00
R7505:Adamts2 UTSW 11 50,687,347 (GRCm39) missense probably benign 0.00
R7971:Adamts2 UTSW 11 50,647,523 (GRCm39) missense probably damaging 1.00
R8081:Adamts2 UTSW 11 50,668,004 (GRCm39) missense probably damaging 0.99
R8167:Adamts2 UTSW 11 50,670,541 (GRCm39) missense probably damaging 1.00
R8256:Adamts2 UTSW 11 50,683,583 (GRCm39) missense probably benign 0.41
R8298:Adamts2 UTSW 11 50,667,958 (GRCm39) missense possibly damaging 0.91
R8343:Adamts2 UTSW 11 50,494,315 (GRCm39) missense probably damaging 1.00
R8518:Adamts2 UTSW 11 50,666,957 (GRCm39) missense probably damaging 1.00
R8716:Adamts2 UTSW 11 50,664,091 (GRCm39) missense probably damaging 1.00
R8865:Adamts2 UTSW 11 50,672,571 (GRCm39) nonsense probably null
R8968:Adamts2 UTSW 11 50,683,550 (GRCm39) missense possibly damaging 0.72
R9436:Adamts2 UTSW 11 50,694,507 (GRCm39) missense probably benign 0.00
R9694:Adamts2 UTSW 11 50,558,972 (GRCm39) missense probably benign 0.16
R9720:Adamts2 UTSW 11 50,666,954 (GRCm39) missense probably damaging 0.97
R9750:Adamts2 UTSW 11 50,494,333 (GRCm39) missense probably benign 0.00
U15987:Adamts2 UTSW 11 50,647,533 (GRCm39) missense probably damaging 1.00
X0065:Adamts2 UTSW 11 50,694,476 (GRCm39) nonsense probably null
Z1176:Adamts2 UTSW 11 50,683,535 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGCTTCAGAAATCCAGGCAGG -3'
(R):5'- ACCCTAGAGTGTCCAGAGAAAGTCAG -3'

Sequencing Primer
(F):5'- AGGTGTTTGTAGCAGCCAG -3'
(R):5'- TCCAGAGAAAGTCAGGGCAG -3'
Posted On 2014-05-23