Incidental Mutation 'R4684:Adamts3'
ID 353505
Institutional Source Beutler Lab
Gene Symbol Adamts3
Ensembl Gene ENSMUSG00000043635
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 3
Synonyms 1100001H14Rik, 6330442E02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4684 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 89824946-90031193 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 89850866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 558 (T558P)
Ref Sequence ENSEMBL: ENSMUSP00000058552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061427] [ENSMUST00000163159]
AlphaFold E9Q287
Predicted Effect probably damaging
Transcript: ENSMUST00000061427
AA Change: T558P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058552
Gene: ENSMUSG00000043635
AA Change: T558P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Pep_M12B_propep 42 201 5.1e-40 PFAM
Pfam:Reprolysin_5 254 439 5.4e-15 PFAM
Pfam:Reprolysin_4 256 454 1.9e-10 PFAM
Pfam:Reprolysin 257 460 3.6e-22 PFAM
Pfam:Reprolysin_2 274 451 7.7e-13 PFAM
Pfam:Reprolysin_3 278 409 1.5e-12 PFAM
TSP1 554 606 1.26e-15 SMART
Pfam:ADAM_spacer1 713 827 3e-34 PFAM
TSP1 848 905 4.35e-2 SMART
TSP1 908 967 4.95e-2 SMART
TSP1 969 1016 6.58e-5 SMART
low complexity region 1114 1128 N/A INTRINSIC
low complexity region 1157 1177 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163159
AA Change: T558P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132219
Gene: ENSMUSG00000043635
AA Change: T558P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Pep_M12B_propep 43 201 1.5e-40 PFAM
Pfam:Reprolysin_5 254 439 2.2e-15 PFAM
Pfam:Reprolysin_4 256 454 7.7e-11 PFAM
Pfam:Reprolysin 257 460 3.7e-21 PFAM
Pfam:Reprolysin_2 274 451 4.3e-14 PFAM
Pfam:Reprolysin_3 278 409 1.3e-12 PFAM
TSP1 554 606 1.26e-15 SMART
Pfam:ADAM_spacer1 713 828 3.6e-28 PFAM
TSP1 849 906 4.35e-2 SMART
TSP1 909 968 4.95e-2 SMART
TSP1 970 1017 6.58e-5 SMART
low complexity region 1115 1129 N/A INTRINSIC
low complexity region 1158 1178 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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) 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 encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 47,083,872 (GRCm39) V45A probably benign Het
4921509C19Rik A G 2: 151,313,791 (GRCm39) I629T unknown Het
4933402N03Rik T C 7: 130,740,413 (GRCm39) R268G probably damaging Het
Abca13 A T 11: 9,384,193 (GRCm39) R3882* probably null Het
Ano2 A G 6: 125,767,304 (GRCm39) N214S probably benign Het
Arhgef4 A T 1: 34,850,866 (GRCm39) probably null Het
Boc C T 16: 44,320,743 (GRCm39) A306T probably benign Het
Capn10 T C 1: 92,871,503 (GRCm39) F367S probably damaging Het
Ccdc6 T C 10: 70,025,086 (GRCm39) probably benign Het
Cobll1 G T 2: 64,929,372 (GRCm39) S688R possibly damaging Het
Cpxm2 G T 7: 131,650,767 (GRCm39) P631Q possibly damaging Het
Cyp2c68 A G 19: 39,687,779 (GRCm39) V406A possibly damaging Het
Cyp4a30b T A 4: 115,312,200 (GRCm39) Y118N probably damaging Het
Dgki A T 6: 37,276,781 (GRCm39) probably benign Het
Disp2 A G 2: 118,623,237 (GRCm39) N1323S probably damaging Het
Dock1 T A 7: 134,326,138 (GRCm39) Y42* probably null Het
Eps8l1 C A 7: 4,476,944 (GRCm39) P471Q probably damaging Het
Fam20a A C 11: 109,612,513 (GRCm39) L10R unknown Het
Fpr-rs4 T A 17: 18,242,446 (GRCm39) I151K probably damaging Het
Gga1 C A 15: 78,769,509 (GRCm39) P161T probably damaging Het
Gm9923 T A 10: 72,145,306 (GRCm39) Y52* probably null Het
Gucy2g A G 19: 55,194,688 (GRCm39) F910L probably damaging Het
H2-T5 A T 17: 36,476,750 (GRCm39) H241Q possibly damaging Het
Helz T C 11: 107,539,971 (GRCm39) V315A probably damaging Het
Hk2 T C 6: 82,716,629 (GRCm39) Y301C probably damaging Het
Htt C T 5: 35,010,109 (GRCm39) P1521S probably damaging Het
Iah1 T C 12: 21,366,434 (GRCm39) M1T probably null Het
Ik T C 18: 36,885,467 (GRCm39) S287P probably damaging Het
Itga1 T A 13: 115,185,906 (GRCm39) D32V probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Klk14 A G 7: 43,341,392 (GRCm39) I15V probably benign Het
Kng2 T C 16: 22,806,391 (GRCm39) I603V possibly damaging Het
Lama1 T C 17: 68,080,773 (GRCm39) I1267T possibly damaging Het
Lrp1b A C 2: 40,812,316 (GRCm39) L2430V probably benign Het
Lrrn3 T G 12: 41,504,243 (GRCm39) K25Q possibly damaging Het
Lta4h T A 10: 93,304,678 (GRCm39) N233K probably benign Het
Mapk13 T C 17: 28,989,023 (GRCm39) I53T probably damaging Het
Mdn1 T C 4: 32,666,430 (GRCm39) F123L probably damaging Het
Myh4 G C 11: 67,136,637 (GRCm39) D472H probably damaging Het
Nipa2 A T 7: 55,585,574 (GRCm39) N121K probably benign Het
Nostrin C T 2: 69,014,268 (GRCm39) T408M probably benign Het
Oosp2 C T 19: 11,627,017 (GRCm39) R102H probably damaging Het
Or1j18 A G 2: 36,624,686 (GRCm39) M118V probably damaging Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Osgin2 T A 4: 16,001,946 (GRCm39) I202L probably benign Het
Pbld2 C A 10: 62,893,476 (GRCm39) R271S probably damaging Het
Pex6 C T 17: 47,023,027 (GRCm39) T201I probably benign Het
Pilra T C 5: 137,833,777 (GRCm39) I96M probably damaging Het
Pllp T A 8: 95,403,906 (GRCm39) D47V possibly damaging Het
Plxna2 A G 1: 194,444,902 (GRCm39) S765G probably benign Het
Prkca A T 11: 107,852,434 (GRCm39) Y100N probably damaging Het
Prkg1 T A 19: 31,641,579 (GRCm39) K35* probably null Het
Psmc2 A G 5: 22,008,263 (GRCm39) D389G possibly damaging Het
Rnf213 A G 11: 119,331,951 (GRCm39) T2387A probably damaging Het
Ros1 T C 10: 52,005,192 (GRCm39) N914S probably damaging Het
Ruvbl1 C A 6: 88,468,581 (GRCm39) T367K probably benign Het
Scube2 C T 7: 109,409,920 (GRCm39) R525H probably damaging Het
Sec14l4 T C 11: 3,985,200 (GRCm39) probably null Het
Secisbp2l T C 2: 125,587,862 (GRCm39) D751G probably damaging Het
Setd3 T C 12: 108,074,949 (GRCm39) D402G probably benign Het
Slc15a2 T A 16: 36,578,211 (GRCm39) K359N probably damaging Het
Slc25a21 A G 12: 57,243,721 (GRCm39) S2P probably benign Het
Slfn8 A T 11: 82,908,332 (GRCm39) H70Q probably benign Het
Spef2 T C 15: 9,647,576 (GRCm39) I944V probably benign Het
Spg11 A G 2: 121,895,557 (GRCm39) F1887S probably damaging Het
Sptbn4 A T 7: 27,066,160 (GRCm39) D649E possibly damaging Het
Sptbn4 T C 7: 27,063,844 (GRCm39) E879G probably damaging Het
Stx5a C A 19: 8,720,725 (GRCm39) R121S probably damaging Het
Tbcd T C 11: 121,384,597 (GRCm39) L26P probably damaging Het
Tecpr1 T C 5: 144,144,255 (GRCm39) D649G probably benign Het
Tfam A G 10: 71,073,677 (GRCm39) S32P probably benign Het
Tmt1b G T 10: 128,796,571 (GRCm39) C79* probably null Het
Trmt44 C T 5: 35,715,387 (GRCm39) R642H probably benign Het
Trpm3 G A 19: 22,965,145 (GRCm39) A1547T probably benign Het
Ttll6 T C 11: 96,044,003 (GRCm39) V519A probably benign Het
Umodl1 T C 17: 31,217,088 (GRCm39) F1107L probably benign Het
Usp5 A T 6: 124,794,919 (GRCm39) V677E probably damaging Het
Utp20 A T 10: 88,643,307 (GRCm39) L605* probably null Het
Utrn T C 10: 12,620,984 (GRCm39) D229G probably damaging Het
Uty A T Y: 1,176,502 (GRCm39) L178* probably null Het
Vmn2r88 A T 14: 51,650,791 (GRCm39) D168V possibly damaging Het
Vps13b T C 15: 35,646,324 (GRCm39) V1476A probably damaging Het
Vps13b C A 15: 35,879,967 (GRCm39) T3014K probably benign Het
Vps13b C T 15: 35,841,487 (GRCm39) H2506Y probably benign Het
Vps37c T C 19: 10,690,132 (GRCm39) V198A probably benign Het
Zfc3h1 T C 10: 115,259,290 (GRCm39) Y1621H probably benign Het
Zfp251 T C 15: 76,738,607 (GRCm39) D162G possibly damaging Het
Zfp292 T C 4: 34,807,078 (GRCm39) T1994A probably benign Het
Zfp791 A G 8: 85,837,559 (GRCm39) Y102H probably benign Het
Other mutations in Adamts3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Adamts3 APN 5 90,009,184 (GRCm39) missense probably damaging 1.00
IGL00340:Adamts3 APN 5 89,849,525 (GRCm39) missense probably damaging 1.00
IGL00923:Adamts3 APN 5 89,832,235 (GRCm39) missense probably benign 0.06
IGL01420:Adamts3 APN 5 89,850,916 (GRCm39) missense possibly damaging 0.57
IGL01522:Adamts3 APN 5 89,850,802 (GRCm39) missense probably benign 0.14
IGL01676:Adamts3 APN 5 90,029,402 (GRCm39) missense possibly damaging 0.54
IGL01676:Adamts3 APN 5 89,825,613 (GRCm39) missense probably benign 0.00
IGL01678:Adamts3 APN 5 89,855,715 (GRCm39) missense probably damaging 1.00
IGL01936:Adamts3 APN 5 90,009,282 (GRCm39) missense probably benign 0.00
IGL01956:Adamts3 APN 5 89,825,770 (GRCm39) missense probably damaging 0.99
IGL02342:Adamts3 APN 5 89,839,332 (GRCm39) splice site probably null
IGL02415:Adamts3 APN 5 89,854,506 (GRCm39) splice site probably null
IGL03261:Adamts3 APN 5 90,030,756 (GRCm39) utr 5 prime probably benign
IGL03301:Adamts3 APN 5 89,855,263 (GRCm39) missense probably damaging 1.00
R0041:Adamts3 UTSW 5 89,832,326 (GRCm39) missense probably benign
R0079:Adamts3 UTSW 5 89,840,912 (GRCm39) missense probably benign 0.00
R0096:Adamts3 UTSW 5 89,849,576 (GRCm39) nonsense probably null
R0096:Adamts3 UTSW 5 89,849,576 (GRCm39) nonsense probably null
R0477:Adamts3 UTSW 5 89,832,366 (GRCm39) missense probably benign
R0605:Adamts3 UTSW 5 90,009,334 (GRCm39) missense possibly damaging 0.96
R1036:Adamts3 UTSW 5 89,843,952 (GRCm39) splice site probably benign
R1462:Adamts3 UTSW 5 90,009,208 (GRCm39) missense probably benign 0.17
R1462:Adamts3 UTSW 5 90,009,208 (GRCm39) missense probably benign 0.17
R1621:Adamts3 UTSW 5 89,869,560 (GRCm39) missense probably damaging 1.00
R1799:Adamts3 UTSW 5 89,923,280 (GRCm39) missense probably benign 0.00
R2163:Adamts3 UTSW 5 89,856,577 (GRCm39) missense probably damaging 0.99
R2412:Adamts3 UTSW 5 89,849,630 (GRCm39) missense probably damaging 0.99
R2420:Adamts3 UTSW 5 89,831,034 (GRCm39) missense probably damaging 0.97
R2421:Adamts3 UTSW 5 89,831,034 (GRCm39) missense probably damaging 0.97
R2422:Adamts3 UTSW 5 89,831,034 (GRCm39) missense probably damaging 0.97
R2921:Adamts3 UTSW 5 90,009,393 (GRCm39) missense possibly damaging 0.90
R2922:Adamts3 UTSW 5 90,009,393 (GRCm39) missense possibly damaging 0.90
R2923:Adamts3 UTSW 5 90,009,393 (GRCm39) missense possibly damaging 0.90
R3402:Adamts3 UTSW 5 89,849,592 (GRCm39) missense probably benign 0.04
R3431:Adamts3 UTSW 5 89,855,312 (GRCm39) splice site probably benign
R3432:Adamts3 UTSW 5 89,855,312 (GRCm39) splice site probably benign
R3813:Adamts3 UTSW 5 89,825,785 (GRCm39) missense possibly damaging 0.67
R3816:Adamts3 UTSW 5 89,853,123 (GRCm39) missense probably damaging 0.99
R3905:Adamts3 UTSW 5 90,009,214 (GRCm39) missense probably damaging 1.00
R3906:Adamts3 UTSW 5 90,009,214 (GRCm39) missense probably damaging 1.00
R3907:Adamts3 UTSW 5 90,009,214 (GRCm39) missense probably damaging 1.00
R3908:Adamts3 UTSW 5 90,009,214 (GRCm39) missense probably damaging 1.00
R4557:Adamts3 UTSW 5 89,848,346 (GRCm39) missense probably benign 0.03
R4844:Adamts3 UTSW 5 89,825,675 (GRCm39) missense probably damaging 0.99
R4925:Adamts3 UTSW 5 89,832,182 (GRCm39) missense probably benign 0.01
R5097:Adamts3 UTSW 5 89,840,909 (GRCm39) missense probably damaging 0.97
R5100:Adamts3 UTSW 5 89,856,502 (GRCm39) missense probably damaging 1.00
R5237:Adamts3 UTSW 5 89,923,236 (GRCm39) missense probably benign
R5265:Adamts3 UTSW 5 90,009,411 (GRCm39) missense possibly damaging 0.91
R5322:Adamts3 UTSW 5 89,855,159 (GRCm39) splice site probably null
R5413:Adamts3 UTSW 5 89,856,626 (GRCm39) missense probably damaging 1.00
R5459:Adamts3 UTSW 5 89,839,332 (GRCm39) splice site probably null
R5738:Adamts3 UTSW 5 89,856,527 (GRCm39) missense probably damaging 1.00
R5979:Adamts3 UTSW 5 90,009,528 (GRCm39) missense probably damaging 0.96
R5992:Adamts3 UTSW 5 89,839,194 (GRCm39) missense probably damaging 1.00
R6364:Adamts3 UTSW 5 89,869,673 (GRCm39) missense possibly damaging 0.92
R6572:Adamts3 UTSW 5 90,009,468 (GRCm39) missense possibly damaging 0.87
R7098:Adamts3 UTSW 5 90,009,354 (GRCm39) missense probably damaging 1.00
R7172:Adamts3 UTSW 5 90,030,860 (GRCm39) start gained probably benign
R7263:Adamts3 UTSW 5 89,825,601 (GRCm39) missense probably benign 0.03
R7401:Adamts3 UTSW 5 89,855,309 (GRCm39) critical splice acceptor site probably null
R7599:Adamts3 UTSW 5 90,009,256 (GRCm39) missense probably benign 0.00
R7829:Adamts3 UTSW 5 90,009,349 (GRCm39) missense probably damaging 1.00
R7835:Adamts3 UTSW 5 89,848,299 (GRCm39) missense possibly damaging 0.70
R7892:Adamts3 UTSW 5 90,009,288 (GRCm39) missense probably benign 0.10
R8021:Adamts3 UTSW 5 89,831,043 (GRCm39) missense possibly damaging 0.47
R8289:Adamts3 UTSW 5 89,923,282 (GRCm39) missense possibly damaging 0.89
R8350:Adamts3 UTSW 5 89,850,815 (GRCm39) missense probably damaging 1.00
R8468:Adamts3 UTSW 5 89,842,627 (GRCm39) missense probably benign 0.19
R8827:Adamts3 UTSW 5 89,839,324 (GRCm39) missense probably benign 0.03
R8864:Adamts3 UTSW 5 89,854,981 (GRCm39) intron probably benign
R8906:Adamts3 UTSW 5 89,825,575 (GRCm39) missense probably damaging 0.98
R9000:Adamts3 UTSW 5 89,854,570 (GRCm39) missense probably benign 0.17
R9005:Adamts3 UTSW 5 89,825,693 (GRCm39) missense probably benign 0.08
R9378:Adamts3 UTSW 5 89,848,269 (GRCm39) nonsense probably null
R9505:Adamts3 UTSW 5 89,855,751 (GRCm39) missense probably damaging 1.00
R9516:Adamts3 UTSW 5 89,834,750 (GRCm39) missense probably damaging 1.00
X0064:Adamts3 UTSW 5 89,850,901 (GRCm39) missense possibly damaging 0.75
Z1088:Adamts3 UTSW 5 89,832,308 (GRCm39) missense probably damaging 0.99
Z1176:Adamts3 UTSW 5 89,923,210 (GRCm39) missense not run
Z1177:Adamts3 UTSW 5 89,923,210 (GRCm39) missense not run
Z1177:Adamts3 UTSW 5 89,855,723 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAGCAGTACTTTCCATAGCCTC -3'
(R):5'- GGATACCTTTGTGCAGCAAATG -3'

Sequencing Primer
(F):5'- GCCTCTGTTTTTCCAAATGAGATG -3'
(R):5'- GCAAATGCCTATGGGTATCTTAAATC -3'
Posted On 2015-10-21