Incidental Mutation 'R4691:Adamts2'
ID 397140
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 041942-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R4691 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 50492912-50698400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 50647523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 299 (V299F)
Ref Sequence ENSEMBL: ENSMUSP00000040171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040523]
AlphaFold Q8C9W3
Predicted Effect probably damaging
Transcript: ENSMUST00000040523
AA Change: V299F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040171
Gene: ENSMUSG00000036545
AA Change: V299F

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 0.8554 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (70/72)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,384,195 (GRCm39) R3882S probably damaging Het
Ankrd50 A G 3: 38,537,159 (GRCm39) S65P probably benign Het
Ap4e1 T C 2: 126,903,791 (GRCm39) C898R probably benign Het
Arel1 A T 12: 84,977,023 (GRCm39) probably null Het
Bag6 T A 17: 35,358,224 (GRCm39) V164D probably damaging Het
C2cd5 A G 6: 142,975,874 (GRCm39) S769P possibly damaging Het
Cables1 C T 18: 11,973,580 (GRCm39) Q240* probably null Het
Ccnb1-ps T A 7: 41,755,516 (GRCm39) noncoding transcript Het
Ccz1 A T 5: 143,928,380 (GRCm39) I390N possibly damaging Het
Ceacam23 T A 7: 17,642,891 (GRCm39) S434T possibly damaging Het
Ces1a T C 8: 93,759,287 (GRCm39) H283R probably benign Het
Clca3b G A 3: 144,544,853 (GRCm39) T378I probably benign Het
Cpne2 A T 8: 95,284,849 (GRCm39) I342F probably damaging Het
Cyp2d9 A G 15: 82,340,033 (GRCm39) D141G probably damaging Het
Ddias T A 7: 92,508,024 (GRCm39) K630N probably damaging Het
Dennd4b A G 3: 90,179,619 (GRCm39) T626A probably damaging Het
Disc1 T C 8: 125,875,186 (GRCm39) V554A possibly damaging Het
Dnah10 A G 5: 124,852,581 (GRCm39) T1880A probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Epop C T 11: 97,519,719 (GRCm39) G130D possibly damaging Het
Erap1 T C 13: 74,821,811 (GRCm39) L722P probably damaging Het
Eya4 T A 10: 23,015,966 (GRCm39) T334S probably benign Het
Ezr T C 17: 7,026,961 (GRCm39) I5V probably benign Het
Fam53c A C 18: 34,901,743 (GRCm39) E220A probably damaging Het
Galnt12 T C 4: 47,104,143 (GRCm39) S134P probably damaging Het
Gcfc2 T A 6: 81,918,408 (GRCm39) L366* probably null Het
Gins4 T A 8: 23,727,075 (GRCm39) D6V probably benign Het
Grid1 A G 14: 35,291,514 (GRCm39) H807R probably benign Het
H2-T22 GTTTT GTTT 17: 36,352,462 (GRCm39) probably null Het
Ighv1-66 T C 12: 115,556,929 (GRCm39) Y51C probably benign Het
Inpp4b A T 8: 82,849,282 (GRCm39) Y901F probably damaging Het
Irf2 T A 8: 47,299,222 (GRCm39) S339T probably damaging Het
Itgae G T 11: 73,010,345 (GRCm39) G612* probably null Het
Kdr T C 5: 76,105,259 (GRCm39) K1037R possibly damaging Het
Mro A T 18: 74,006,397 (GRCm39) M115L probably benign Het
Myo5a A G 9: 75,087,438 (GRCm39) E1098G probably damaging Het
Nkx2-1 T A 12: 56,580,350 (GRCm39) M197L probably benign Het
Or7e165 T C 9: 19,694,678 (GRCm39) I83T probably benign Het
Pank2 T A 2: 131,138,201 (GRCm39) F430L possibly damaging Het
Pcx T A 19: 4,669,505 (GRCm39) V794E probably damaging Het
Pdgfd C T 9: 6,288,556 (GRCm39) P70L probably damaging Het
Pla2g4e T C 2: 120,004,781 (GRCm39) Y521C probably damaging Het
Pou5f1 T A 17: 35,817,028 (GRCm39) F11Y probably damaging Het
Prdm9 A G 17: 15,773,640 (GRCm39) M252T probably benign Het
Ptk2b C T 14: 66,394,518 (GRCm39) G859S probably benign Het
Rad51ap1 A G 6: 126,904,516 (GRCm39) S123P probably benign Het
Robo3 T C 9: 37,336,514 (GRCm39) E418G probably damaging Het
Sos2 C T 12: 69,663,102 (GRCm39) R631H probably damaging Het
Sp140l1 C T 1: 85,066,521 (GRCm39) probably benign Het
St3gal2 C T 8: 111,684,417 (GRCm39) T25I probably benign Het
Stra6l G A 4: 45,882,851 (GRCm39) A521T probably benign Het
Syt7 T A 19: 10,403,845 (GRCm39) L177Q probably damaging Het
Tet2 T A 3: 133,191,844 (GRCm39) Q863H possibly damaging Het
Tmem232 T C 17: 65,572,237 (GRCm39) K585E possibly damaging Het
Trpc6 A C 9: 8,652,979 (GRCm39) E595A probably damaging Het
Txnl1 A G 18: 63,804,750 (GRCm39) V248A possibly damaging Het
Vmn2r72 A T 7: 85,387,119 (GRCm39) L815* probably null Het
Vmn2r81 C T 10: 79,129,211 (GRCm39) Q701* probably null Het
Vps13c T C 9: 67,860,217 (GRCm39) V2811A possibly damaging Het
Vsig10l2 T C 9: 35,428,158 (GRCm39) S106G possibly damaging Het
Zfp354a A G 11: 50,961,064 (GRCm39) E425G probably damaging Het
Zfp617 A T 8: 72,686,659 (GRCm39) T330S probably benign Het
Zfp663 G T 2: 165,201,050 (GRCm39) probably benign Het
Zfp84 T C 7: 29,476,505 (GRCm39) L399P probably damaging Het
Zfp869 A T 8: 70,159,513 (GRCm39) C353* probably null Het
Zscan22 C T 7: 12,640,488 (GRCm39) A85V probably benign 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
R1779:Adamts2 UTSW 11 50,647,524 (GRCm39) missense probably damaging 0.99
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
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'- ATCCAGGCAGGTGTTTGTAGC -3'
(R):5'- ACCCTAGAGTGTCCAGAGAAAG -3'

Sequencing Primer
(F):5'- TTTGTAGCAGCCAGGGC -3'
(R):5'- CCTAGAGTGTCCAGAGAAAGTCAGG -3'
Posted On 2016-06-24