Incidental Mutation 'R7522:Adam21'
ID 582743
Institutional Source Beutler Lab
Gene Symbol Adam21
Ensembl Gene ENSMUSG00000008438
Gene Name a disintegrin and metallopeptidase domain 21
Synonyms ADAM31
MMRRC Submission 045594-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7522 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 81605358-81615248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 81605722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Arginine at position 680 (T680R)
Ref Sequence ENSEMBL: ENSMUSP00000008582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008582]
AlphaFold Q9JI76
Predicted Effect possibly damaging
Transcript: ENSMUST00000008582
AA Change: T680R

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000008582
Gene: ENSMUSG00000008438
AA Change: T680R

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Pep_M12B_propep 39 164 5.1e-21 PFAM
Pfam:Reprolysin_4 212 389 2.5e-11 PFAM
Pfam:Reprolysin 212 402 7.3e-50 PFAM
Pfam:Reprolysin_5 214 400 5.8e-19 PFAM
Pfam:Reprolysin_2 233 393 1.3e-14 PFAM
Pfam:Reprolysin_3 236 356 6.5e-16 PFAM
DISIN 419 494 2.45e-37 SMART
ACR 495 631 6.49e-62 SMART
EGF 637 667 2.03e1 SMART
transmembrane domain 687 709 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (75/77)
MGI Phenotype FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. The encoded protein functions in the regulation of spermatogenesis in the testes and neurogenesis in the central nervous system. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030014E15Rik G T 1: 82,902,949 (GRCm39) C82F unknown Het
Adgrf4 A C 17: 42,980,675 (GRCm39) Y137D probably benign Het
Ago3 T C 4: 126,257,600 (GRCm39) K477R probably benign Het
Ahnak T A 19: 8,979,686 (GRCm39) D323E probably benign Het
Amph A G 13: 19,270,715 (GRCm39) D108G probably damaging Het
Ankrd10 A T 8: 11,682,910 (GRCm39) C106S probably damaging Het
Bmp5 A T 9: 75,683,384 (GRCm39) T4S probably benign Het
Brix1 G A 15: 10,476,676 (GRCm39) R267C probably damaging Het
Calcrl G A 2: 84,203,708 (GRCm39) S24L probably benign Het
Ccdc40 T G 11: 119,123,047 (GRCm39) I213R possibly damaging Het
Cd300lg A G 11: 101,945,028 (GRCm39) I413V probably benign Het
Cdh3 G A 8: 107,268,005 (GRCm39) D347N probably damaging Het
Clcn3 T C 8: 61,394,446 (GRCm39) T55A probably benign Het
Cnga4 A G 7: 105,055,195 (GRCm39) T260A probably damaging Het
Cpne8 G T 15: 90,486,022 (GRCm39) P147Q probably benign Het
Cpsf6 A G 10: 117,203,734 (GRCm39) Y74H unknown Het
Cryl1 A T 14: 57,513,428 (GRCm39) S264R probably benign Het
Cyp39a1 C T 17: 43,978,370 (GRCm39) probably benign Het
Cyp4f39 T C 17: 32,705,946 (GRCm39) S346P probably damaging Het
Cyria A G 12: 12,408,057 (GRCm39) T28A possibly damaging Het
Ddhd1 G A 14: 45,895,104 (GRCm39) A122V possibly damaging Het
Dnmt1 C A 9: 20,831,498 (GRCm39) C662F probably damaging Het
E2f6 G A 12: 16,872,125 (GRCm39) G190S probably benign Het
Esp34 A T 17: 38,870,432 (GRCm39) I109F possibly damaging Het
Espl1 A T 15: 102,213,486 (GRCm39) D604V probably damaging Het
Exo1 T C 1: 175,728,870 (GRCm39) C645R probably benign Het
Fah A G 7: 84,246,282 (GRCm39) V189A probably benign Het
Fam184b A C 5: 45,688,093 (GRCm39) Y939D probably damaging Het
Fchsd2 T A 7: 100,908,829 (GRCm39) L410* probably null Het
Gak A T 5: 108,739,065 (GRCm39) I665N possibly damaging Het
Galnt9 A G 5: 110,743,705 (GRCm39) probably null Het
Gcg T C 2: 62,306,103 (GRCm39) R165G probably benign Het
Hexd T C 11: 121,108,923 (GRCm39) V214A possibly damaging Het
Hoxb3 A T 11: 96,235,507 (GRCm39) S145C probably damaging Het
Il18 A G 9: 50,486,640 (GRCm39) Y23C probably damaging Het
Itgav A T 2: 83,632,373 (GRCm39) I954F probably benign Het
Kcna4 A G 2: 107,126,600 (GRCm39) R445G probably damaging Het
Kyat3 T A 3: 142,440,305 (GRCm39) L343Q probably damaging Het
Lgals4 A T 7: 28,537,117 (GRCm39) D139V possibly damaging Het
Lrp3 C T 7: 34,903,755 (GRCm39) G197D probably damaging Het
Lyst T A 13: 13,821,668 (GRCm39) C1347* probably null Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Map3k4 T C 17: 12,480,219 (GRCm39) Q661R probably benign Het
Marcks A C 10: 37,012,577 (GRCm39) F153V unknown Het
Mocs1 T C 17: 49,742,292 (GRCm39) probably null Het
Naa60 A G 16: 3,719,768 (GRCm39) T232A probably benign Het
Oosp1 A T 19: 11,666,065 (GRCm39) I75N probably benign Het
Opn3 A G 1: 175,493,189 (GRCm39) V125A probably benign Het
Or2ag18 A G 7: 106,404,994 (GRCm39) V225A probably damaging Het
Or2f1 T A 6: 42,721,568 (GRCm39) I199N probably damaging Het
Or4c102 A G 2: 88,423,005 (GRCm39) T286A possibly damaging Het
Or7g27 T A 9: 19,250,294 (GRCm39) C179* probably null Het
Palb2 T C 7: 121,712,501 (GRCm39) T947A probably damaging Het
Pde5a C T 3: 122,634,648 (GRCm39) R730* probably null Het
Plcl1 T C 1: 55,735,523 (GRCm39) I288T probably benign Het
Plxnb2 A G 15: 89,045,977 (GRCm39) I966T probably benign Het
Prkcz T C 4: 155,355,742 (GRCm39) E400G probably damaging Het
Prpf8 A G 11: 75,400,102 (GRCm39) D2332G possibly damaging Het
Ptgds T G 2: 25,357,920 (GRCm39) T154P probably benign Het
Rel T C 11: 23,720,676 (GRCm39) probably null Het
Rxylt1 A G 10: 121,917,344 (GRCm39) W390R probably damaging Het
Serpinb1c T A 13: 33,066,200 (GRCm39) K248N probably benign Het
Shkbp1 A C 7: 27,046,583 (GRCm39) W394G possibly damaging Het
Slc47a2 A G 11: 61,193,076 (GRCm39) V559A probably benign Het
Sox6 A T 7: 115,400,813 (GRCm39) F10I probably damaging Het
Stkld1 T C 2: 26,837,259 (GRCm39) V303A probably benign Het
Styk1 T A 6: 131,289,803 (GRCm39) probably null Het
Tet1 T C 10: 62,654,762 (GRCm39) T1574A possibly damaging Het
Tkt A T 14: 30,290,180 (GRCm39) I270F possibly damaging Het
Trak1 A G 9: 121,271,777 (GRCm39) E166G probably damaging Het
Tsc2 A T 17: 24,849,939 (GRCm39) I58N probably damaging Het
Uhmk1 T A 1: 170,042,809 (GRCm39) M1L probably benign Het
Usp50 T C 2: 126,625,146 (GRCm39) Y21C probably damaging Het
Vmn1r180 C G 7: 23,652,685 (GRCm39) P283A probably damaging Het
Vmn1r83 A G 7: 12,055,505 (GRCm39) M184T possibly damaging Het
Vmn2r109 A G 17: 20,774,665 (GRCm39) I230T probably benign Het
Other mutations in Adam21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02186:Adam21 APN 12 81,605,983 (GRCm39) missense possibly damaging 0.61
IGL02311:Adam21 APN 12 81,607,666 (GRCm39) missense probably benign 0.01
IGL03132:Adam21 APN 12 81,607,148 (GRCm39) nonsense probably null
IGL03225:Adam21 APN 12 81,606,043 (GRCm39) missense probably benign 0.00
BB009:Adam21 UTSW 12 81,606,938 (GRCm39) missense probably damaging 0.98
BB019:Adam21 UTSW 12 81,606,938 (GRCm39) missense probably damaging 0.98
R0305:Adam21 UTSW 12 81,607,059 (GRCm39) missense possibly damaging 0.96
R0634:Adam21 UTSW 12 81,607,126 (GRCm39) missense probably benign 0.01
R1415:Adam21 UTSW 12 81,606,321 (GRCm39) nonsense probably null
R1961:Adam21 UTSW 12 81,606,282 (GRCm39) nonsense probably null
R1996:Adam21 UTSW 12 81,606,376 (GRCm39) missense possibly damaging 0.79
R2159:Adam21 UTSW 12 81,607,241 (GRCm39) missense probably benign 0.17
R2215:Adam21 UTSW 12 81,607,064 (GRCm39) missense probably damaging 1.00
R3780:Adam21 UTSW 12 81,606,047 (GRCm39) missense probably damaging 1.00
R3964:Adam21 UTSW 12 81,607,583 (GRCm39) missense possibly damaging 0.46
R4356:Adam21 UTSW 12 81,605,594 (GRCm39) missense probably damaging 0.99
R4503:Adam21 UTSW 12 81,607,672 (GRCm39) missense probably benign
R4795:Adam21 UTSW 12 81,607,748 (GRCm39) missense probably benign 0.06
R4925:Adam21 UTSW 12 81,607,163 (GRCm39) missense probably benign
R4932:Adam21 UTSW 12 81,605,692 (GRCm39) missense probably benign 0.14
R5110:Adam21 UTSW 12 81,606,989 (GRCm39) missense probably benign 0.40
R5831:Adam21 UTSW 12 81,605,875 (GRCm39) missense probably benign 0.06
R6289:Adam21 UTSW 12 81,607,480 (GRCm39) missense probably damaging 1.00
R6500:Adam21 UTSW 12 81,606,380 (GRCm39) missense probably benign 0.01
R7077:Adam21 UTSW 12 81,605,893 (GRCm39) missense probably damaging 1.00
R7083:Adam21 UTSW 12 81,607,015 (GRCm39) missense possibly damaging 0.81
R7173:Adam21 UTSW 12 81,606,008 (GRCm39) missense probably benign 0.24
R7176:Adam21 UTSW 12 81,607,022 (GRCm39) missense possibly damaging 0.94
R7232:Adam21 UTSW 12 81,607,330 (GRCm39) missense probably damaging 0.99
R7371:Adam21 UTSW 12 81,607,064 (GRCm39) missense probably damaging 1.00
R7486:Adam21 UTSW 12 81,605,657 (GRCm39) missense probably benign 0.00
R7918:Adam21 UTSW 12 81,607,378 (GRCm39) missense possibly damaging 0.64
R7932:Adam21 UTSW 12 81,606,938 (GRCm39) missense probably damaging 0.98
R8040:Adam21 UTSW 12 81,607,211 (GRCm39) missense probably benign 0.04
R8486:Adam21 UTSW 12 81,607,550 (GRCm39) missense probably benign 0.08
R8750:Adam21 UTSW 12 81,607,247 (GRCm39) nonsense probably null
R8881:Adam21 UTSW 12 81,606,650 (GRCm39) missense probably benign 0.02
R9084:Adam21 UTSW 12 81,606,160 (GRCm39) missense probably damaging 1.00
R9541:Adam21 UTSW 12 81,607,724 (GRCm39) missense probably benign
R9564:Adam21 UTSW 12 81,605,833 (GRCm39) missense probably damaging 1.00
Z1088:Adam21 UTSW 12 81,607,460 (GRCm39) missense probably damaging 1.00
Z1176:Adam21 UTSW 12 81,606,517 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTTAGTGCATAGGCGGC -3'
(R):5'- AAGTGAAAGATGGCACCACC -3'

Sequencing Primer
(F):5'- TGCATAGGCGGCTATTAAGC -3'
(R):5'- CTGTGGAGTAGGAAAGATCTGCCTAC -3'
Posted On 2019-10-17