Incidental Mutation 'R7263:Adamts3'
ID 564739
Institutional Source Beutler Lab
Gene Symbol Adamts3
Ensembl Gene ENSMUSG00000043635
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 3
Synonyms 1100001H14Rik, 6330442E02Rik
MMRRC Submission 045388-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7263 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 89824946-90031193 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89825601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1079 (D1079E)
Ref Sequence ENSEMBL: ENSMUSP00000132219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061427] [ENSMUST00000163159]
AlphaFold E9Q287
Predicted Effect probably benign
Transcript: ENSMUST00000061427
AA Change: D1078E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000058552
Gene: ENSMUSG00000043635
AA Change: D1078E

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 benign
Transcript: ENSMUST00000163159
AA Change: D1079E

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000132219
Gene: ENSMUSG00000043635
AA Change: D1079E

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
Meta Mutation Damage Score 0.0915 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 96% (67/70)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C A 3: 121,847,843 (GRCm39) H55N probably damaging Het
Acan G T 7: 78,742,066 (GRCm39) V488L probably damaging Het
Adam12 T C 7: 133,521,240 (GRCm39) E638G possibly damaging Het
Adamts20 T A 15: 94,220,772 (GRCm39) Q1387L possibly damaging Het
Barx1 G T 13: 48,818,555 (GRCm39) G93C probably damaging Het
Carmil2 C T 8: 106,419,677 (GRCm39) R828C probably damaging Het
Catsper4 TTCTC TTC 4: 133,954,423 (GRCm39) probably null Het
Ccdc159 T C 9: 21,843,007 (GRCm39) M148T probably benign Het
Cdk5rap1 T A 2: 154,202,652 (GRCm39) N193Y probably benign Het
Csnk1g2 G A 10: 80,470,332 (GRCm39) G15D probably damaging Het
Dach1 T C 14: 98,406,295 (GRCm39) S151G probably benign Het
Elf5 C A 2: 103,269,645 (GRCm39) N75K probably benign Het
Elp3 T C 14: 65,802,782 (GRCm39) D272G probably damaging Het
Epb41l1 T A 2: 156,337,043 (GRCm39) probably null Het
Epha6 A G 16: 59,596,028 (GRCm39) Y888H probably damaging Het
Fibcd1 T C 2: 31,707,222 (GRCm39) Y345C probably damaging Het
Gjd3 C T 11: 102,690,963 (GRCm39) E347K possibly damaging Het
Gse1 A G 8: 121,300,910 (GRCm39) D892G unknown Het
Gtpbp6 A T 5: 110,251,915 (GRCm39) I506N probably benign Het
Hivep1 T A 13: 42,311,668 (GRCm39) F1303I possibly damaging Het
Il21r A G 7: 125,232,077 (GRCm39) T502A probably benign Het
Ints1 T C 5: 139,749,834 (GRCm39) T997A possibly damaging Het
Invs C A 4: 48,396,381 (GRCm39) N351K probably damaging Het
Iqcm A G 8: 76,489,701 (GRCm39) T390A probably benign Het
Iqcn A G 8: 71,163,425 (GRCm39) N873D possibly damaging Het
Kcnh4 C T 11: 100,632,643 (GRCm39) G948D probably benign Het
Kcnh7 T A 2: 62,566,314 (GRCm39) probably null Het
Lrrc72 A G 12: 36,258,611 (GRCm39) V82A probably damaging Het
Macf1 A T 4: 123,271,943 (GRCm39) L6535Q probably damaging Het
Ncor2 G C 5: 125,109,196 (GRCm39) L585V Het
Nipal2 G C 15: 34,578,904 (GRCm39) Y298* probably null Het
Nipsnap1 C T 11: 4,832,960 (GRCm39) probably benign Het
Or12e1 T A 2: 87,022,476 (GRCm39) C148* probably null Het
Or4x12-ps1 T C 2: 89,916,332 (GRCm39) I158V not run Het
Or51g1 A T 7: 102,633,524 (GRCm39) Y282* probably null Het
Pcdhga4 C T 18: 37,819,873 (GRCm39) T474I probably benign Het
Pdp1 G T 4: 11,960,821 (GRCm39) Q516K possibly damaging Het
Pik3c2b C T 1: 133,017,940 (GRCm39) P934L probably damaging Het
Pp2d1 A G 17: 53,822,358 (GRCm39) I236T probably benign Het
Pygm G A 19: 6,438,357 (GRCm39) R278H probably damaging Het
Rb1 A T 14: 73,520,363 (GRCm39) C215* probably null Het
Rgs22 A G 15: 36,015,789 (GRCm39) S1156P possibly damaging Het
Rgs9bp T C 7: 35,284,126 (GRCm39) T174A probably damaging Het
Rnf133 A T 6: 23,649,667 (GRCm39) Y130* probably null Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Serpinb6e A T 13: 34,022,923 (GRCm39) F153L probably benign Het
Slc22a1 A T 17: 12,885,587 (GRCm39) Y200N probably damaging Het
Slc22a22 C A 15: 57,113,107 (GRCm39) M377I probably benign Het
Slc36a4 A G 9: 15,633,452 (GRCm39) probably null Het
Slc39a6 A G 18: 24,734,260 (GRCm39) V143A probably benign Het
Slf2 G A 19: 44,926,863 (GRCm39) probably null Het
Sowaha T C 11: 53,370,485 (GRCm39) K84E probably benign Het
Spef2 T G 15: 9,653,098 (GRCm39) probably null Het
Sphkap A T 1: 83,254,399 (GRCm39) F1117I probably damaging Het
Tas2r113 T C 6: 132,870,539 (GRCm39) I189T possibly damaging Het
Tescl T C 7: 24,033,247 (GRCm39) E26G possibly damaging Het
Trpm6 A T 19: 18,854,150 (GRCm39) I1847F probably damaging Het
Uba1y T A Y: 822,200 (GRCm39) C178S possibly damaging Het
Ush2a T A 1: 188,175,526 (GRCm39) V1208D possibly damaging Het
Usp13 G C 3: 32,949,000 (GRCm39) A446P probably damaging Het
Usp7 A T 16: 8,514,588 (GRCm39) C722S possibly damaging Het
Vmn1r52 A G 6: 90,156,535 (GRCm39) S280G probably benign Het
Vmn2r84 T C 10: 130,225,077 (GRCm39) K478E probably damaging Het
Zfp112 C A 7: 23,824,952 (GRCm39) L311I probably benign Het
Zfp180 G T 7: 23,805,125 (GRCm39) E515* probably null Het
Zfp518b A G 5: 38,829,671 (GRCm39) I778T probably damaging Het
Zfp800 A T 6: 28,243,662 (GRCm39) H434Q 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
R4684:Adamts3 UTSW 5 89,850,866 (GRCm39) missense probably damaging 0.98
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
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'- GACGAAGGTGATCAGTCTTTATGG -3'
(R):5'- CCATGTTTGGGTGACAAGTCC -3'

Sequencing Primer
(F):5'- AGGATGGCACTGACTCCAG -3'
(R):5'- CCATATTCTGTCAAATGGAGGTGC -3'
Posted On 2019-06-26