Incidental Mutation 'R9357:Adam28'
ID 708474
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R9357 (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 68879479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 190 (A190T)
Ref Sequence ENSEMBL: ENSMUSP00000022642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022642] [ENSMUST00000111072] [ENSMUST00000224039]
AlphaFold Q9JLN6
Predicted Effect probably benign
Transcript: ENSMUST00000022642
AA Change: A190T

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: A190T

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 possibly damaging
Transcript: ENSMUST00000111072
AA Change: A190T

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: A190T

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: A190T

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.2675 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (44/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,696 (GRCm39) V900A probably benign Het
Ager T C 17: 34,817,541 (GRCm39) V116A probably damaging Het
Agt G T 8: 125,291,065 (GRCm39) H81N probably benign Het
Apc2 T C 10: 80,146,872 (GRCm39) V642A probably damaging Het
Atg4b C T 1: 93,713,648 (GRCm39) T325M probably damaging Het
Atp10b A G 11: 43,150,711 (GRCm39) S1470G probably benign Het
Cacul1 A G 19: 60,533,942 (GRCm39) I220T probably benign Het
Ccdc7a T C 8: 129,671,136 (GRCm39) probably null Het
Cnnm1 A C 19: 43,429,827 (GRCm39) D315A probably damaging Het
Fbxo24 A G 5: 137,611,096 (GRCm39) F565L probably damaging Het
Fpr-rs4 T A 17: 18,242,211 (GRCm39) S73T probably damaging Het
Gbp7 T C 3: 142,248,889 (GRCm39) V384A probably benign Het
Gcnt2 A T 13: 41,041,732 (GRCm39) H297L possibly damaging Het
Glo1 T C 17: 30,831,518 (GRCm39) E3G probably benign Het
Gsdmc4 T C 15: 63,772,196 (GRCm39) D161G probably benign Het
Ifi213 T A 1: 173,396,392 (GRCm39) M561L probably benign Het
Ighv1-63 A G 12: 115,459,478 (GRCm39) S40P probably damaging Het
Itpr2 A G 6: 146,260,814 (GRCm39) L971P probably damaging Het
Lrp2 A T 2: 69,336,917 (GRCm39) I1285N probably damaging Het
Map1b A T 13: 99,566,708 (GRCm39) Y2004* probably null Het
Mindy1 C T 3: 95,202,590 (GRCm39) L394F probably benign Het
Mug1 A G 6: 121,852,450 (GRCm39) D846G probably benign Het
Myh7b A G 2: 155,463,268 (GRCm39) E500G probably damaging Het
Myo18a C T 11: 77,733,014 (GRCm39) T1348M probably damaging Het
Myo7b A T 18: 32,093,129 (GRCm39) I2027N probably damaging Het
Neb T C 2: 52,069,580 (GRCm39) probably null Het
Obscn G A 11: 58,929,592 (GRCm39) R5208C probably damaging Het
Parg G A 14: 31,996,874 (GRCm39) D827N probably damaging Het
Pcdha6 A T 18: 37,102,226 (GRCm39) H473L probably benign Het
Pde4dip A G 3: 97,625,645 (GRCm39) S1318P probably benign Het
Ppan T C 9: 20,801,220 (GRCm39) S166P possibly damaging Het
Ppargc1b C A 18: 61,448,939 (GRCm39) A128S probably damaging Het
Rdh16f2 T A 10: 127,712,915 (GRCm39) D304E possibly damaging Het
Sh3pxd2a A T 19: 47,260,448 (GRCm39) L435Q probably damaging Het
Slc35d1 A T 4: 103,065,333 (GRCm39) Y183N Het
Sspo T C 6: 48,443,989 (GRCm39) S2166P possibly damaging Het
Tent5a A T 9: 85,208,672 (GRCm39) N50K probably benign Het
Twf2 T C 9: 106,092,100 (GRCm39) F319S probably benign Het
Ush2a C T 1: 188,607,147 (GRCm39) T4014M probably benign Het
Vmn1r3 T G 4: 3,185,149 (GRCm39) T53P probably damaging Het
Vmn2r76 T C 7: 85,880,428 (GRCm39) E86G probably benign Het
Wdtc1 A G 4: 133,023,782 (GRCm39) Y530H probably damaging Het
Xdh A G 17: 74,214,711 (GRCm39) F745L probably damaging Het
Xdh A C 17: 74,233,541 (GRCm39) probably null Het
Zfp358 T C 8: 3,545,568 (GRCm39) L50P 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
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
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'- GGGAGCCAATATTGTAATCATGC -3'
(R):5'- CAGGGGTTACATCAGTCAAGG -3'

Sequencing Primer
(F):5'- ATGCAAATAACAGCAATCTAGAGTC -3'
(R):5'- GGGTTACATCAGTCAAGGAGATG -3'
Posted On 2022-04-18