Incidental Mutation 'R6831:Adam28'
ID 537871
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 044941-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R6831 (G1)
Quality Score 225.009
Status Not 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: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T G 10: 29,100,675 (GRCm39) D349E probably benign Het
Akr1cl C T 1: 65,053,831 (GRCm39) probably null Het
Alcam A G 16: 52,130,264 (GRCm39) Y29H probably benign Het
Alg3 A T 16: 20,427,497 (GRCm39) S25T probably damaging Het
Amdhd1 T G 10: 93,363,118 (GRCm39) L323F probably damaging Het
Apcdd1 C A 18: 63,083,197 (GRCm39) Y342* probably null Het
Aqp9 T A 9: 71,069,702 (GRCm39) probably benign Het
Arhgef5 A G 6: 43,257,933 (GRCm39) T1326A probably damaging Het
Cacna1a T C 8: 85,297,860 (GRCm39) V1238A probably damaging Het
Cep128 T C 12: 91,233,748 (GRCm39) D440G probably damaging Het
Dnah5 G C 15: 28,411,661 (GRCm39) G3677R possibly damaging Het
Dst T A 1: 34,229,765 (GRCm39) C2631S probably benign Het
E330034G19Rik T C 14: 24,346,163 (GRCm39) S25P probably benign Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Fat3 C A 9: 16,287,847 (GRCm39) V559L probably damaging Het
Fra10ac1 A T 19: 38,195,737 (GRCm39) I162K probably benign Het
Glrx3 C T 7: 137,060,951 (GRCm39) T195M possibly damaging Het
Gm9949 T A 18: 62,313,616 (GRCm39) probably benign Het
Hbs1l T C 10: 21,217,767 (GRCm39) S228P probably benign Het
Hmcn1 G A 1: 150,646,044 (GRCm39) T718I probably benign Het
Igf1r T C 7: 67,857,067 (GRCm39) S1010P possibly damaging Het
Inpp5d T A 1: 87,629,198 (GRCm39) Y394* probably null Het
Itpr2 G A 6: 146,013,927 (GRCm39) T2623M probably damaging Het
Kif21b T A 1: 136,072,496 (GRCm39) C67* probably null Het
Lama1 T A 17: 68,063,749 (GRCm39) C758S possibly damaging Het
Mdga1 T A 17: 30,106,490 (GRCm39) K274* probably null Het
Neu2 G A 1: 87,524,455 (GRCm39) G147R probably damaging Het
Nkx1-1 A T 5: 33,591,147 (GRCm39) S58R unknown Het
Or2ag16 A T 7: 106,351,778 (GRCm39) N272K probably damaging Het
Or52e4 A G 7: 104,706,086 (GRCm39) D211G possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pacs1 T A 19: 5,210,823 (GRCm39) I151F probably damaging Het
Pamr1 C T 2: 102,445,276 (GRCm39) R270C probably damaging Het
Pclo C T 5: 14,838,443 (GRCm39) Q1417* probably null Het
Pkm G C 9: 59,582,398 (GRCm39) M409I probably benign Het
Plbd2 T A 5: 120,631,131 (GRCm39) K215N probably benign Het
Polk T C 13: 96,631,999 (GRCm39) K245E possibly damaging Het
Pramel17 T A 4: 101,694,094 (GRCm39) Q263L probably benign Het
Prl T G 13: 27,243,530 (GRCm39) I65S probably benign Het
Proser3 T C 7: 30,239,781 (GRCm39) H441R probably benign Het
Psmb3 A G 11: 97,597,728 (GRCm39) K98R probably benign Het
Ptpn20 T C 14: 33,354,882 (GRCm39) V319A probably damaging Het
Ptprj A T 2: 90,290,991 (GRCm39) Y397N probably damaging Het
Rp1 T C 1: 4,420,087 (GRCm39) probably null Het
Sgsm1 T A 5: 113,428,246 (GRCm39) Y314F probably damaging Het
Sh3pxd2a G A 19: 47,271,532 (GRCm39) R244C probably damaging Het
Sspo G A 6: 48,461,767 (GRCm39) V3466M possibly damaging Het
Syne2 T A 12: 76,013,568 (GRCm39) F2921I probably benign Het
Trank1 T A 9: 111,206,967 (GRCm39) M1700K probably benign Het
Trmt112 T A 19: 6,887,563 (GRCm39) L4H probably damaging Het
Trmu A G 15: 85,779,207 (GRCm39) T285A probably benign Het
Ttn A G 2: 76,601,846 (GRCm39) probably null Het
Vmn2r-ps158 G C 7: 42,673,004 (GRCm39) A143P probably damaging Het
Zc3hav1 A T 6: 38,309,103 (GRCm39) M573K probably benign Het
Zcchc8 T C 5: 123,838,972 (GRCm39) E522G probably damaging Het
Zfp354a T C 11: 50,961,381 (GRCm39) S529P 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
R6833: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'- CCATCCTATATCCTCCTAGAGTGTC -3'
(R):5'- ACCTGCTAGTGTTTTCCTAATAAAAT -3'

Sequencing Primer
(F):5'- TCCTCCTAGAGTGTCAGATAAGC -3'
(R):5'- TTGACCATACTCTAGTGGAAGGCC -3'
Posted On 2018-10-18