Incidental Mutation 'R8906:Adamts3'
ID 680101
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 068699-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8906 (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 A at 89825575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1088 (T1088I)
Ref Sequence ENSEMBL: ENSMUSP00000132219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061427] [ENSMUST00000163159]
AlphaFold E9Q287
Predicted Effect possibly damaging
Transcript: ENSMUST00000061427
AA Change: T1087I

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000058552
Gene: ENSMUSG00000043635
AA Change: T1087I

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: T1088I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132219
Gene: ENSMUSG00000043635
AA Change: T1088I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (88/88)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik A C 19: 3,766,686 (GRCm39) N91T possibly damaging Het
2510009E07Rik CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA CCGGA 16: 21,472,148 (GRCm39) probably null Het
4932414N04Rik A G 2: 68,562,498 (GRCm39) D375G possibly damaging Het
Adad2 C A 8: 120,339,725 (GRCm39) P69Q probably benign Het
Ank2 A G 3: 126,726,720 (GRCm39) V858A probably benign Het
Ankrd13a A G 5: 114,939,798 (GRCm39) N475S probably benign Het
Barhl2 G A 5: 106,603,352 (GRCm39) T269I probably benign Het
Boc G A 16: 44,323,931 (GRCm39) R157W Het
Bsn G T 9: 107,984,752 (GRCm39) P3101T unknown Het
Catsperb C A 12: 101,486,904 (GRCm39) A477E possibly damaging Het
Ccser1 T A 6: 61,787,842 (GRCm39) I220K probably benign Het
Cd200r3 A T 16: 44,778,102 (GRCm39) I242F possibly damaging Het
Cdc34b A C 11: 94,632,911 (GRCm39) D37A probably damaging Het
Chek2 A G 5: 111,013,458 (GRCm39) probably benign Het
Cngb1 A T 8: 95,989,736 (GRCm39) V792D probably damaging Het
Cops7a T C 6: 124,939,371 (GRCm39) K93E possibly damaging Het
Crispld1 T C 1: 17,820,995 (GRCm39) I345T possibly damaging Het
Dgkd A G 1: 87,869,157 (GRCm39) D1170G probably damaging Het
Dhx35 A G 2: 158,648,918 (GRCm39) T115A possibly damaging Het
Dnai1 G A 4: 41,625,125 (GRCm39) R363H probably benign Het
Dnmbp T A 19: 43,878,681 (GRCm39) Q130L probably benign Het
Egfr A G 11: 16,861,635 (GRCm39) Y1138C probably damaging Het
Elf3 A T 1: 135,182,678 (GRCm39) L329Q probably damaging Het
Enkur A G 2: 21,201,568 (GRCm39) M39T probably benign Het
Epha7 T C 4: 28,821,615 (GRCm39) I260T probably damaging Het
Fbxo28 A T 1: 182,144,634 (GRCm39) I310K probably damaging Het
Fga C A 3: 82,939,111 (GRCm39) N495K probably benign Het
Galnt6 T C 15: 100,601,247 (GRCm39) D344G probably damaging Het
Gm572 A G 4: 148,751,290 (GRCm39) Q221R probably benign Het
Gpa33 G A 1: 165,974,216 (GRCm39) A18T probably benign Het
Gpatch11 C T 17: 79,145,289 (GRCm39) T6I probably benign Het
Gpr84 T A 15: 103,217,625 (GRCm39) S151C probably damaging Het
H2-M11 T A 17: 36,859,851 (GRCm39) Y281* probably null Het
Hadh T C 3: 131,038,891 (GRCm39) N155S probably benign Het
Hoxd13 A G 2: 74,500,266 (GRCm39) Y269C Het
Iars1 T A 13: 49,882,177 (GRCm39) C1074S probably benign Het
Ibtk G T 9: 85,625,457 (GRCm39) H98N possibly damaging Het
Igsf10 C T 3: 59,233,739 (GRCm39) G1665R probably benign Het
Inpp5d A G 1: 87,625,337 (GRCm39) probably benign Het
Ipo9 A C 1: 135,321,951 (GRCm39) V593G probably damaging Het
Irx3 T C 8: 92,526,915 (GRCm39) D263G possibly damaging Het
Kif13a A G 13: 46,927,154 (GRCm39) V1179A probably benign Het
Lrrc4c T C 2: 97,460,393 (GRCm39) Y340H probably benign Het
Lysmd1 A G 3: 95,045,219 (GRCm39) D155G probably damaging Het
Mical2 T A 7: 111,980,671 (GRCm39) I105N probably damaging Het
Mob2 A T 7: 141,563,261 (GRCm39) L66Q probably damaging Het
Myh1 A G 11: 67,096,739 (GRCm39) S337G probably benign Het
Neb T C 2: 52,096,259 (GRCm39) D1002G probably benign Het
Nebl A T 2: 17,382,928 (GRCm39) N116K probably benign Het
Nkx2-6 T C 14: 69,412,623 (GRCm39) S264P probably benign Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nlrp4e A G 7: 23,020,556 (GRCm39) T348A possibly damaging Het
Nomo1 A T 7: 45,722,004 (GRCm39) I982F probably benign Het
Or10j5 A G 1: 172,784,186 (GRCm39) probably benign Het
Or11g24 T G 14: 50,662,291 (GRCm39) F105C probably damaging Het
Or1j19 A T 2: 36,676,621 (GRCm39) Y28F probably benign Het
Or8g22 A G 9: 38,958,077 (GRCm39) F213L possibly damaging Het
Palld A G 8: 62,003,198 (GRCm39) probably null Het
Pcdh7 A G 5: 57,879,154 (GRCm39) Y903C probably damaging Het
Pknox2 G A 9: 36,804,167 (GRCm39) T460M possibly damaging Het
Ppm1h C T 10: 122,714,451 (GRCm39) T330I probably damaging Het
Ppp2r2b C T 18: 42,821,399 (GRCm39) R253H probably damaging Het
Pramel58 G T 5: 94,831,413 (GRCm39) R140L possibly damaging Het
Prr18 G A 17: 8,560,476 (GRCm39) A211T probably benign Het
Ptgs2 A G 1: 149,979,859 (GRCm39) I321M Het
Rara G T 11: 98,860,989 (GRCm39) R159L probably damaging Het
Rasa4 T A 5: 136,133,446 (GRCm39) I635N probably benign Het
Rxfp2 A T 5: 149,989,888 (GRCm39) H423L possibly damaging Het
Scn4b A G 9: 45,059,169 (GRCm39) I147V possibly damaging Het
Scrn3 G A 2: 73,161,352 (GRCm39) V313I probably benign Het
Scrn3 C A 2: 73,161,355 (GRCm39) P314T possibly damaging Het
Sh2b1 A G 7: 126,070,292 (GRCm39) probably null Het
Slc26a10 T C 10: 127,016,459 (GRCm39) Q3R probably benign Het
Slitrk1 A G 14: 109,149,139 (GRCm39) I524T probably damaging Het
Smcp T A 3: 92,491,530 (GRCm39) N106Y unknown Het
Spata31h1 T C 10: 82,122,379 (GRCm39) T3544A probably benign Het
St8sia5 G A 18: 77,336,172 (GRCm39) V202M probably damaging Het
Stxbp5l A T 16: 37,028,526 (GRCm39) D512E probably damaging Het
Tas1r2 A G 4: 139,397,046 (GRCm39) E795G probably damaging Het
Tdrd1 T A 19: 56,831,145 (GRCm39) V320D probably damaging Het
Tmem71 T A 15: 66,404,606 (GRCm39) I261L probably benign Het
Tns2 T C 15: 102,020,039 (GRCm39) L643P probably damaging Het
Upf1 G A 8: 70,786,815 (GRCm39) Q890* probably null Het
Usp43 A T 11: 67,782,307 (GRCm39) H370Q possibly damaging Het
Vmn1r236 T A 17: 21,507,356 (GRCm39) I158N possibly damaging Het
Vmn2r98 T A 17: 19,286,532 (GRCm39) N343K probably benign Het
Vwa8 T C 14: 79,329,815 (GRCm39) S1216P probably benign Het
Yars1 A C 4: 129,090,747 (GRCm39) D97A probably damaging Het
Zer1 G A 2: 30,001,035 (GRCm39) H129Y probably benign Het
Zfat C T 15: 67,956,404 (GRCm39) D1143N possibly damaging 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
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
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'- GGACGAAGGTGATCAGTCTTTATG -3'
(R):5'- CCATGTTTGGGTGACAAGTCC -3'

Sequencing Primer
(F):5'- AGGAGGATGGCACTGACTCC -3'
(R):5'- CCATATTCTGTCAAATGGAGGTGC -3'
Posted On 2021-08-31