Incidental Mutation 'R1619:Adamts6'
ID 174561
Institutional Source Beutler Lab
Gene Symbol Adamts6
Ensembl Gene ENSMUSG00000046169
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 6
Synonyms b2b2029Clo, b2b2182Clo, b2b2187.1Clo, b2b1879.1Clo, A930019D11Rik, ADAM-TS6, b2b2228Clo
MMRRC Submission 039656-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.847) question?
Stock # R1619 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 104424343-104633203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104449285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 36 (P36S)
Ref Sequence ENSEMBL: ENSMUSP00000153194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065766] [ENSMUST00000223562] [ENSMUST00000224208] [ENSMUST00000224303] [ENSMUST00000224504] [ENSMUST00000224742] [ENSMUST00000224784]
AlphaFold D3Z1A5
Predicted Effect probably benign
Transcript: ENSMUST00000065766
AA Change: P232S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
AA Change: P232S

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 43 191 4.2e-40 PFAM
Pfam:Reprolysin_5 248 443 3.8e-17 PFAM
Pfam:Reprolysin_4 248 464 4.9e-12 PFAM
Pfam:Reprolysin 250 468 1.6e-27 PFAM
Pfam:Reprolysin_2 268 458 5.6e-15 PFAM
Pfam:Reprolysin_3 272 414 2.6e-14 PFAM
TSP1 561 613 3.98e-13 SMART
Pfam:ADAM_spacer1 717 829 2.9e-41 PFAM
TSP1 843 900 2.49e-5 SMART
TSP1 902 960 2.87e-5 SMART
TSP1 963 1018 1.36e-1 SMART
TSP1 1021 1069 2.36e-6 SMART
Pfam:PLAC 1083 1115 3.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223562
AA Change: P232S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000224208
AA Change: P232S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000224303
AA Change: P232S

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000224504
AA Change: P36S

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000224742
AA Change: P232S

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000224784
AA Change: P232S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
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 enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for induced mutations exhibit cardiovascular defects including double outlet right ventricle, ventricular septal defects and biventricular hypertrophy, and hydrops, thymus hypoplasia short snout and cleft palate. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A T 10: 79,844,889 (GRCm39) H1537L probably damaging Het
Actg2 T A 6: 83,500,169 (GRCm39) N116I probably damaging Het
Actn1 G A 12: 80,219,796 (GRCm39) H692Y probably damaging Het
Agr3 G A 12: 35,997,858 (GRCm39) probably null Het
Ank3 T C 10: 69,715,805 (GRCm39) V500A probably damaging Het
BC051019 T A 7: 109,317,269 (GRCm39) D141V probably damaging Het
Bco1 T C 8: 117,835,454 (GRCm39) F135S probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Ccdc42 A G 11: 68,485,115 (GRCm39) K210E probably damaging Het
Cckar A T 5: 53,857,409 (GRCm39) W263R probably damaging Het
Cela2a A G 4: 141,553,252 (GRCm39) probably null Het
Cep97 A T 16: 55,748,159 (GRCm39) N90K probably damaging Het
Ces2g A T 8: 105,693,984 (GRCm39) Q440L probably damaging Het
Chchd6 G T 6: 89,396,736 (GRCm39) T225K possibly damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Chrna5 A G 9: 54,911,649 (GRCm39) T46A probably benign Het
Col16a1 G A 4: 129,992,733 (GRCm39) G1531S probably damaging Het
Col19a1 A T 1: 24,573,172 (GRCm39) V200E unknown Het
Csf2rb A G 15: 78,219,411 (GRCm39) D2G probably damaging Het
Csmd3 G A 15: 47,813,346 (GRCm39) S1062L probably damaging Het
Cul5 G T 9: 53,569,893 (GRCm39) Q113K probably benign Het
Dmwd TAGCCTGGGAA TAGCCTGGGAAGCCTGGGAA 7: 18,814,959 (GRCm39) probably benign Het
Dse T C 10: 34,029,230 (GRCm39) D620G probably damaging Het
Dsg1c A G 18: 20,397,899 (GRCm39) N33S probably benign Het
Epc2 G A 2: 49,439,990 (GRCm39) V803I probably damaging Het
Erap1 T A 13: 74,819,500 (GRCm39) H171Q probably damaging Het
Esrrb T C 12: 86,561,274 (GRCm39) V336A possibly damaging Het
Fech A T 18: 64,595,189 (GRCm39) W300R probably damaging Het
Fgd4 T C 16: 16,241,920 (GRCm39) I635V possibly damaging Het
Galc A T 12: 98,200,563 (GRCm39) N282K probably benign Het
Gpat2 A G 2: 127,270,637 (GRCm39) Y95C probably benign Het
Grm2 T A 9: 106,524,670 (GRCm39) I682F probably damaging Het
Hdac10 G T 15: 89,010,878 (GRCm39) A241D probably damaging Het
Helz T A 11: 107,527,105 (GRCm39) C182* probably null Het
Ift140 A G 17: 25,307,839 (GRCm39) Y978C probably damaging Het
Intu T A 3: 40,652,061 (GRCm39) C839* probably null Het
Jmjd1c T C 10: 67,055,654 (GRCm39) V358A probably benign Het
Kif26b A G 1: 178,744,043 (GRCm39) S1380G probably benign Het
Lrp1b A G 2: 40,587,601 (GRCm39) S116P unknown Het
Lrrc2 T A 9: 110,790,041 (GRCm39) S99R probably benign Het
Mrpl48 G A 7: 100,195,482 (GRCm39) probably benign Het
Mup9 A G 4: 60,377,878 (GRCm39) probably benign Het
Nap1l1 G A 10: 111,329,240 (GRCm39) V285I possibly damaging Het
Nepro A G 16: 44,547,391 (GRCm39) D36G probably benign Het
Nkain4 A G 2: 180,577,794 (GRCm39) F187L probably damaging Het
Nobox A T 6: 43,284,401 (GRCm39) C82S possibly damaging Het
Ntn4 C A 10: 93,480,596 (GRCm39) Q70K probably damaging Het
Or13j1 A G 4: 43,706,292 (GRCm39) I92T probably damaging Het
Or1e26 A T 11: 73,480,118 (GRCm39) W149R probably damaging Het
Or4k37 A G 2: 111,159,306 (GRCm39) I181V probably benign Het
Or51a43 T C 7: 103,717,738 (GRCm39) R167G probably damaging Het
Or5b122 T A 19: 13,562,978 (GRCm39) F103L probably benign Het
Or9r3 A G 10: 129,948,548 (GRCm39) I37T possibly damaging Het
Pappa A G 4: 65,094,466 (GRCm39) E497G probably damaging Het
Pard3 C A 8: 128,106,983 (GRCm39) T569K probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcdh10 A G 3: 45,334,747 (GRCm39) N354D possibly damaging Het
Pdgfc T C 3: 81,082,194 (GRCm39) V129A probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Phf20l1 A T 15: 66,487,108 (GRCm39) H407L possibly damaging Het
Phip A T 9: 82,753,502 (GRCm39) D1747E probably benign Het
Pkd1l1 A G 11: 8,900,413 (GRCm39) S43P probably damaging Het
Plekhg2 T C 7: 28,067,846 (GRCm39) E202G probably damaging Het
Rapsn A G 2: 90,873,504 (GRCm39) D270G possibly damaging Het
Rims2 A C 15: 39,370,382 (GRCm39) S939R probably damaging Het
Ripor3 T C 2: 167,822,765 (GRCm39) D932G probably damaging Het
Rtp2 A T 16: 23,749,421 (GRCm39) W30R probably damaging Het
Scgb2b27 A T 7: 33,711,557 (GRCm39) D97E probably benign Het
Slc25a46 T C 18: 31,716,542 (GRCm39) N320S probably benign Het
Slc9b1 A G 3: 135,060,765 (GRCm39) probably null Het
Socs4 T A 14: 47,527,740 (GRCm39) M225K possibly damaging Het
Spata31d1a A T 13: 59,850,247 (GRCm39) L627* probably null Het
Srcin1 A G 11: 97,416,307 (GRCm39) L975P probably damaging Het
Stard3 T A 11: 98,267,435 (GRCm39) probably null Het
Susd2 G T 10: 75,473,878 (GRCm39) S572R possibly damaging Het
Tll1 C A 8: 64,509,307 (GRCm39) A568S probably benign Het
Tmem132a C G 19: 10,839,062 (GRCm39) G460A probably damaging Het
Trim62 A G 4: 128,803,281 (GRCm39) K444E probably damaging Het
Trpm3 A G 19: 22,689,271 (GRCm39) T67A probably damaging Het
Ttc6 T C 12: 57,784,454 (GRCm39) M1841T possibly damaging Het
Ulk2 A T 11: 61,672,572 (GRCm39) V922D probably damaging Het
Vmn2r38 C A 7: 9,078,532 (GRCm39) V617L probably damaging Het
Xkr6 G A 14: 64,056,766 (GRCm39) V226M probably benign Het
Zfp940 G A 7: 29,544,962 (GRCm39) A315V possibly damaging Het
Zfr C A 15: 12,150,473 (GRCm39) T480K possibly damaging Het
Other mutations in Adamts6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Adamts6 APN 13 104,566,298 (GRCm39) missense possibly damaging 0.79
IGL00583:Adamts6 APN 13 104,433,726 (GRCm39) nonsense probably null
IGL01305:Adamts6 APN 13 104,526,590 (GRCm39) missense probably damaging 1.00
IGL01448:Adamts6 APN 13 104,433,672 (GRCm39) missense probably damaging 1.00
IGL01517:Adamts6 APN 13 104,526,700 (GRCm39) splice site probably benign
IGL01678:Adamts6 APN 13 104,450,196 (GRCm39) missense probably damaging 1.00
IGL01737:Adamts6 APN 13 104,526,643 (GRCm39) missense probably damaging 0.99
IGL02152:Adamts6 APN 13 104,450,168 (GRCm39) missense probably null 1.00
IGL02217:Adamts6 APN 13 104,598,873 (GRCm39) splice site probably benign
IGL02828:Adamts6 APN 13 104,433,978 (GRCm39) missense probably damaging 1.00
IGL03067:Adamts6 APN 13 104,433,783 (GRCm39) missense probably damaging 1.00
IGL03081:Adamts6 APN 13 104,581,464 (GRCm39) utr 3 prime probably benign
IGL03159:Adamts6 APN 13 104,580,723 (GRCm39) missense probably damaging 1.00
IGL03411:Adamts6 APN 13 104,450,842 (GRCm39) missense possibly damaging 0.77
De_vito UTSW 13 104,483,900 (GRCm39) critical splice donor site probably null
festinator UTSW 13 104,616,043 (GRCm39) missense probably damaging 1.00
ANU22:Adamts6 UTSW 13 104,526,590 (GRCm39) missense probably damaging 1.00
P0007:Adamts6 UTSW 13 104,433,999 (GRCm39) missense possibly damaging 0.73
R0362:Adamts6 UTSW 13 104,526,584 (GRCm39) critical splice acceptor site probably null
R0504:Adamts6 UTSW 13 104,563,438 (GRCm39) splice site probably benign
R0549:Adamts6 UTSW 13 104,433,763 (GRCm39) missense possibly damaging 0.60
R0566:Adamts6 UTSW 13 104,581,435 (GRCm39) missense probably benign 0.00
R0703:Adamts6 UTSW 13 104,489,355 (GRCm39) missense probably damaging 1.00
R0799:Adamts6 UTSW 13 104,450,779 (GRCm39) missense probably damaging 1.00
R0838:Adamts6 UTSW 13 104,550,297 (GRCm39) missense possibly damaging 0.47
R1500:Adamts6 UTSW 13 104,449,389 (GRCm39) missense probably damaging 1.00
R1502:Adamts6 UTSW 13 104,630,145 (GRCm39) missense probably damaging 1.00
R1547:Adamts6 UTSW 13 104,581,383 (GRCm39) missense probably benign 0.26
R1727:Adamts6 UTSW 13 104,565,472 (GRCm39) splice site probably benign
R1967:Adamts6 UTSW 13 104,563,459 (GRCm39) nonsense probably null
R2013:Adamts6 UTSW 13 104,450,812 (GRCm39) missense probably damaging 0.98
R2079:Adamts6 UTSW 13 104,598,746 (GRCm39) missense probably benign 0.00
R2432:Adamts6 UTSW 13 104,563,485 (GRCm39) missense probably benign 0.01
R3118:Adamts6 UTSW 13 104,450,787 (GRCm39) missense possibly damaging 0.91
R4125:Adamts6 UTSW 13 104,449,412 (GRCm39) missense probably damaging 1.00
R4274:Adamts6 UTSW 13 104,450,787 (GRCm39) missense possibly damaging 0.91
R4795:Adamts6 UTSW 13 104,580,636 (GRCm39) nonsense probably null
R4841:Adamts6 UTSW 13 104,449,295 (GRCm39) missense probably benign 0.00
R4976:Adamts6 UTSW 13 104,433,998 (GRCm39) missense probably damaging 0.98
R5085:Adamts6 UTSW 13 104,443,751 (GRCm39) missense probably damaging 0.99
R5234:Adamts6 UTSW 13 104,630,130 (GRCm39) missense probably damaging 1.00
R5403:Adamts6 UTSW 13 104,489,323 (GRCm39) missense possibly damaging 0.86
R5753:Adamts6 UTSW 13 104,483,858 (GRCm39) missense probably damaging 1.00
R6027:Adamts6 UTSW 13 104,616,043 (GRCm39) missense probably damaging 1.00
R6187:Adamts6 UTSW 13 104,433,933 (GRCm39) missense probably damaging 1.00
R6229:Adamts6 UTSW 13 104,483,900 (GRCm39) critical splice donor site probably null
R6243:Adamts6 UTSW 13 104,450,809 (GRCm39) missense probably damaging 0.99
R6257:Adamts6 UTSW 13 104,598,790 (GRCm39) missense probably benign
R6743:Adamts6 UTSW 13 104,565,436 (GRCm39) missense probably damaging 1.00
R6775:Adamts6 UTSW 13 104,450,160 (GRCm39) missense probably damaging 0.97
R7113:Adamts6 UTSW 13 104,449,267 (GRCm39) missense probably benign
R7351:Adamts6 UTSW 13 104,526,620 (GRCm39) missense possibly damaging 0.63
R7520:Adamts6 UTSW 13 104,433,694 (GRCm39) missense probably benign 0.01
R7866:Adamts6 UTSW 13 104,550,257 (GRCm39) nonsense probably null
R8274:Adamts6 UTSW 13 104,450,181 (GRCm39) missense probably benign 0.02
R8348:Adamts6 UTSW 13 104,616,027 (GRCm39) missense probably damaging 0.99
R8448:Adamts6 UTSW 13 104,616,027 (GRCm39) missense probably damaging 0.99
R8686:Adamts6 UTSW 13 104,450,207 (GRCm39) missense probably damaging 1.00
R8691:Adamts6 UTSW 13 104,450,839 (GRCm39) missense probably benign 0.00
R8962:Adamts6 UTSW 13 104,433,899 (GRCm39) missense probably damaging 0.99
R8978:Adamts6 UTSW 13 104,512,247 (GRCm39) missense probably damaging 1.00
R9075:Adamts6 UTSW 13 104,598,793 (GRCm39) missense probably benign
R9080:Adamts6 UTSW 13 104,449,427 (GRCm39) missense probably damaging 1.00
R9152:Adamts6 UTSW 13 104,613,275 (GRCm39) missense probably benign 0.06
R9213:Adamts6 UTSW 13 104,581,440 (GRCm39) missense probably damaging 1.00
R9536:Adamts6 UTSW 13 104,489,313 (GRCm39) missense probably benign 0.07
R9674:Adamts6 UTSW 13 104,563,448 (GRCm39) missense probably benign 0.17
X0065:Adamts6 UTSW 13 104,630,136 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- accagagcccTCTAACTAAGGCATT -3'
(R):5'- GCAAATTGTAGACTCAATCCCAAGCAGA -3'

Sequencing Primer
(F):5'- GCTGCTTTTTCACATGAGGAATAG -3'
(R):5'- CTACCTTAATATAAAACACAG -3'
Posted On 2014-04-24