Incidental Mutation 'R6833:Adam28'
ID 534459
Institutional Source Beutler Lab
Gene Symbol Adam28
Ensembl Gene ENSMUSG00000014725
Gene Name a disintegrin and metallopeptidase domain 28
Synonyms MDC-L, D430033C21Rik, Dtgn1, C130072N01Rik
MMRRC Submission 044942-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R6833 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 68843476-68893291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 68855576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 630 (A630T)
Ref Sequence ENSEMBL: ENSMUSP00000106701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022642] [ENSMUST00000111072] [ENSMUST00000224039]
AlphaFold Q9JLN6
Predicted Effect probably benign
Transcript: ENSMUST00000022642
AA Change: A630T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: A630T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Pep_M12B_propep 31 158 5.5e-34 PFAM
Pfam:Reprolysin_4 205 387 1.5e-14 PFAM
Pfam:Reprolysin_5 205 388 9.7e-19 PFAM
Pfam:Reprolysin 206 402 5.6e-70 PFAM
Pfam:Reprolysin_2 226 392 1e-16 PFAM
Pfam:Reprolysin_3 230 353 1.2e-21 PFAM
DISIN 419 494 2.1e-36 SMART
ACR 495 623 1.84e-52 SMART
EGF 631 660 3.01e0 SMART
transmembrane domain 667 689 N/A INTRINSIC
low complexity region 738 753 N/A INTRINSIC
low complexity region 757 765 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111072
AA Change: A630T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: A630T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Pep_M12B_propep 31 158 5.3e-34 PFAM
Pfam:Reprolysin_4 205 387 1.5e-14 PFAM
Pfam:Reprolysin_5 205 388 9.3e-19 PFAM
Pfam:Reprolysin 206 402 5.3e-70 PFAM
Pfam:Reprolysin_2 226 392 9.9e-17 PFAM
Pfam:Reprolysin_3 230 353 1.1e-21 PFAM
DISIN 419 494 2.1e-36 SMART
ACR 495 623 1.84e-52 SMART
EGF 631 660 3.01e0 SMART
transmembrane domain 667 689 N/A INTRINSIC
low complexity region 738 753 N/A INTRINSIC
low complexity region 757 765 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224039
AA Change: A630T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 96% (54/56)
MGI Phenotype FUNCTION: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are typically membrane-anchored, although a form of this protein may be secreted. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a mature protein product. This protein may bind to integrins and regulate lymphocyte migration by enhancing cell adhesion. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,658,733 (GRCm39) W215R probably damaging Het
Aco1 A G 4: 40,164,747 (GRCm39) K79R probably benign Het
Alpk2 T C 18: 65,439,480 (GRCm39) K1105E probably benign Het
Angptl1 A T 1: 156,672,263 (GRCm39) I30L probably benign Het
Astn1 A T 1: 158,491,692 (GRCm39) Q47L probably benign Het
Atf6b T C 17: 34,868,131 (GRCm39) S135P probably damaging Het
Ccdc122 G T 14: 77,326,371 (GRCm39) probably benign Het
Cers3 T C 7: 66,429,419 (GRCm39) probably null Het
Dcaf10 T C 4: 45,373,043 (GRCm39) C95R probably damaging Het
Dcxr A G 11: 120,616,917 (GRCm39) Y149H probably damaging Het
Dmxl1 A T 18: 50,088,890 (GRCm39) I2790F probably damaging Het
Dnhd1 T A 7: 105,352,580 (GRCm39) C2578S probably benign Het
Dnttip2 T C 3: 122,070,452 (GRCm39) S556P probably damaging Het
Efr3a T G 15: 65,714,535 (GRCm39) V301G probably damaging Het
Eml5 A T 12: 98,853,283 (GRCm39) H105Q probably damaging Het
Enpp3 T A 10: 24,685,768 (GRCm39) H44L probably damaging Het
Fam120a A G 13: 49,087,517 (GRCm39) V281A probably damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Ferd3l G A 12: 33,978,537 (GRCm39) V17I probably damaging Het
Glb1l A G 1: 75,178,397 (GRCm39) V347A possibly damaging Het
Gm4846 A T 1: 166,322,147 (GRCm39) I140N possibly damaging Het
Gm9195 T C 14: 72,671,856 (GRCm39) T2586A possibly damaging Het
Hsd17b8 T C 17: 34,246,191 (GRCm39) S161G probably damaging Het
Hsp90ab1 T C 17: 45,881,393 (GRCm39) I250V probably benign Het
Il11ra1 A G 4: 41,765,454 (GRCm39) H183R probably benign Het
Lama3 G A 18: 12,624,605 (GRCm39) C1450Y probably damaging Het
Lgals7 G A 7: 28,565,087 (GRCm39) R75Q probably damaging Het
Lpcat3 A G 6: 124,676,974 (GRCm39) Y124C probably damaging Het
Lrrc8a T A 2: 30,145,659 (GRCm39) S158T possibly damaging Het
Mcm3 A T 1: 20,880,320 (GRCm39) M504K possibly damaging Het
Mro G T 18: 73,997,003 (GRCm39) probably benign Het
Mybpc3 A G 2: 90,955,773 (GRCm39) probably null Het
Myh14 T A 7: 44,273,803 (GRCm39) K1356* probably null Het
Myo5b A C 18: 74,903,396 (GRCm39) Q1804P probably benign Het
Nol10 A G 12: 17,402,728 (GRCm39) I67V probably benign Het
Pam T A 1: 97,765,717 (GRCm39) I771F probably damaging Het
Pcdhgb8 G T 18: 37,895,142 (GRCm39) A71S probably benign Het
Pmfbp1 T C 8: 110,265,307 (GRCm39) probably null Het
Poc1b C T 10: 99,028,666 (GRCm39) A336V probably benign Het
Poglut3 A G 9: 53,303,308 (GRCm39) I67V possibly damaging Het
Prap1 C A 7: 139,674,995 (GRCm39) A20E possibly damaging Het
Prox1 G A 1: 189,892,975 (GRCm39) A490V probably damaging Het
Prss39 G T 1: 34,537,697 (GRCm39) V54F possibly damaging Het
Sema3b T A 9: 107,480,515 (GRCm39) E144V probably benign Het
Sft2d1 C T 17: 8,537,707 (GRCm39) T32I possibly damaging Het
Smpd2 C T 10: 41,364,442 (GRCm39) A160T probably damaging Het
Stard9 G T 2: 120,531,740 (GRCm39) V2666F probably damaging Het
Syt7 T A 19: 10,421,508 (GRCm39) M400K probably damaging Het
Thoc5 T C 11: 4,869,804 (GRCm39) L402P probably damaging Het
Tinf2 A T 14: 55,919,037 (GRCm39) M1K probably null Het
Ttc21a A G 9: 119,771,701 (GRCm39) I167V probably benign Het
Vldlr T C 19: 27,217,974 (GRCm39) L474P probably damaging Het
Xirp2 T C 2: 67,340,294 (GRCm39) V845A probably benign Het
Zdhhc7 A T 8: 120,811,663 (GRCm39) M180K probably damaging Het
Zfp735 G A 11: 73,601,434 (GRCm39) G126D probably damaging Het
Other mutations in Adam28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Adam28 APN 14 68,859,569 (GRCm39) missense possibly damaging 0.47
IGL00654:Adam28 APN 14 68,886,877 (GRCm39) missense probably benign 0.00
IGL01021:Adam28 APN 14 68,879,563 (GRCm39) missense probably benign
IGL01099:Adam28 APN 14 68,874,778 (GRCm39) critical splice donor site probably null
IGL01349:Adam28 APN 14 68,848,455 (GRCm39) missense probably benign 0.01
IGL01744:Adam28 APN 14 68,844,956 (GRCm39) missense probably benign 0.07
IGL01805:Adam28 APN 14 68,879,540 (GRCm39) missense probably benign 0.09
IGL02007:Adam28 APN 14 68,870,668 (GRCm39) missense possibly damaging 0.69
IGL02828:Adam28 APN 14 68,884,319 (GRCm39) missense possibly damaging 0.46
IGL03180:Adam28 APN 14 68,874,883 (GRCm39) missense probably damaging 1.00
IGL03355:Adam28 APN 14 68,872,252 (GRCm39) splice site probably benign
IGL02980:Adam28 UTSW 14 68,857,255 (GRCm39) missense probably benign 0.01
PIT4453001:Adam28 UTSW 14 68,872,325 (GRCm39) missense probably benign 0.00
R0184:Adam28 UTSW 14 68,874,822 (GRCm39) missense probably benign 0.33
R0321:Adam28 UTSW 14 68,855,200 (GRCm39) missense probably damaging 0.97
R0329:Adam28 UTSW 14 68,855,188 (GRCm39) missense probably damaging 0.96
R0494:Adam28 UTSW 14 68,868,241 (GRCm39) splice site probably benign
R0605:Adam28 UTSW 14 68,844,049 (GRCm39) unclassified probably benign
R0732:Adam28 UTSW 14 68,874,796 (GRCm39) missense probably benign 0.00
R0959:Adam28 UTSW 14 68,845,387 (GRCm39) missense possibly damaging 0.93
R1319:Adam28 UTSW 14 68,846,578 (GRCm39) missense probably benign 0.28
R1745:Adam28 UTSW 14 68,870,620 (GRCm39) missense probably benign 0.04
R1836:Adam28 UTSW 14 68,886,870 (GRCm39) missense possibly damaging 0.85
R1838:Adam28 UTSW 14 68,876,659 (GRCm39) missense possibly damaging 0.53
R1839:Adam28 UTSW 14 68,876,659 (GRCm39) missense possibly damaging 0.53
R1850:Adam28 UTSW 14 68,876,644 (GRCm39) missense probably benign 0.01
R1912:Adam28 UTSW 14 68,881,780 (GRCm39) missense probably benign 0.24
R2830:Adam28 UTSW 14 68,864,363 (GRCm39) missense possibly damaging 0.65
R2889:Adam28 UTSW 14 68,872,294 (GRCm39) missense possibly damaging 0.85
R3977:Adam28 UTSW 14 68,848,443 (GRCm39) missense probably benign 0.20
R3978:Adam28 UTSW 14 68,848,443 (GRCm39) missense probably benign 0.20
R3979:Adam28 UTSW 14 68,848,443 (GRCm39) missense probably benign 0.20
R4282:Adam28 UTSW 14 68,885,155 (GRCm39) missense possibly damaging 0.92
R4416:Adam28 UTSW 14 68,859,531 (GRCm39) critical splice donor site probably null
R4690:Adam28 UTSW 14 68,879,497 (GRCm39) missense probably benign 0.01
R4724:Adam28 UTSW 14 68,864,326 (GRCm39) missense probably damaging 0.99
R4768:Adam28 UTSW 14 68,872,264 (GRCm39) missense possibly damaging 0.46
R4883:Adam28 UTSW 14 68,875,552 (GRCm39) missense probably damaging 0.99
R5054:Adam28 UTSW 14 68,855,164 (GRCm39) missense probably damaging 1.00
R5710:Adam28 UTSW 14 68,847,357 (GRCm39) missense probably damaging 0.96
R5835:Adam28 UTSW 14 68,893,130 (GRCm39) missense possibly damaging 0.96
R6002:Adam28 UTSW 14 68,879,511 (GRCm39) missense probably benign
R6054:Adam28 UTSW 14 68,879,601 (GRCm39) missense probably benign 0.01
R6349:Adam28 UTSW 14 68,870,621 (GRCm39) missense probably benign 0.29
R6449:Adam28 UTSW 14 68,868,116 (GRCm39) missense probably benign 0.31
R6455:Adam28 UTSW 14 68,870,657 (GRCm39) missense probably damaging 1.00
R6831:Adam28 UTSW 14 68,855,576 (GRCm39) missense probably benign 0.04
R7212:Adam28 UTSW 14 68,874,846 (GRCm39) missense probably damaging 0.99
R7411:Adam28 UTSW 14 68,864,396 (GRCm39) missense probably damaging 1.00
R7422:Adam28 UTSW 14 68,864,326 (GRCm39) missense probably damaging 1.00
R7516:Adam28 UTSW 14 68,868,125 (GRCm39) missense probably damaging 1.00
R7649:Adam28 UTSW 14 68,872,282 (GRCm39) missense probably benign 0.12
R7765:Adam28 UTSW 14 68,846,555 (GRCm39) critical splice donor site probably null
R8469:Adam28 UTSW 14 68,844,029 (GRCm39) missense probably benign 0.16
R8520:Adam28 UTSW 14 68,879,532 (GRCm39) missense probably damaging 0.98
R9026:Adam28 UTSW 14 68,846,593 (GRCm39) missense probably benign 0.16
R9163:Adam28 UTSW 14 68,866,531 (GRCm39) missense probably damaging 0.98
R9264:Adam28 UTSW 14 68,844,914 (GRCm39) missense probably benign
R9304:Adam28 UTSW 14 68,874,946 (GRCm39) missense probably damaging 1.00
R9357:Adam28 UTSW 14 68,879,479 (GRCm39) missense probably benign 0.36
R9441:Adam28 UTSW 14 68,874,943 (GRCm39) missense probably damaging 0.96
Z1177:Adam28 UTSW 14 68,864,233 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCATCCTATATCCTCCTAGAGTGTC -3'
(R):5'- CCTGCTAGTGTTTTCCTAATAAAATGT -3'

Sequencing Primer
(F):5'- TCCTCCTAGAGTGTCAGATAAGC -3'
(R):5'- TTGACCATACTCTAGTGGAAGGCC -3'
Posted On 2018-09-12