Incidental Mutation 'R8520:Adam28'
ID 658608
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 067947-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R8520 (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 68879532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 172 (G172D)
Ref Sequence ENSEMBL: ENSMUSP00000106701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022642] [ENSMUST00000111072] [ENSMUST00000224039]
AlphaFold Q9JLN6
Predicted Effect probably damaging
Transcript: ENSMUST00000022642
AA Change: G172D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: G172D

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 damaging
Transcript: ENSMUST00000111072
AA Change: G172D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: G172D

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 damaging
Transcript: ENSMUST00000224039
AA Change: G172D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A T 13: 59,838,423 (GRCm39) F136L possibly damaging Het
A430033K04Rik T A 5: 138,644,968 (GRCm39) N284K possibly damaging Het
Abcb1a T C 5: 8,735,346 (GRCm39) I151T possibly damaging Het
Adcy6 A G 15: 98,502,041 (GRCm39) V191A probably benign Het
Ankrd52 T C 10: 128,225,359 (GRCm39) L911P probably damaging Het
C5ar1 A G 7: 15,982,076 (GRCm39) S315P probably damaging Het
Cubn A G 2: 13,313,331 (GRCm39) probably null Het
Dlec1 T C 9: 118,941,277 (GRCm39) S276P probably benign Het
Dnah14 T A 1: 181,481,203 (GRCm39) I1564N probably damaging Het
Dsg2 G A 18: 20,712,508 (GRCm39) G171R probably damaging Het
Dusp13b C A 14: 21,793,538 (GRCm39) G208* probably null Het
Ebf3 A C 7: 136,802,853 (GRCm39) probably null Het
Fbn2 A T 18: 58,171,270 (GRCm39) probably null Het
Fbxo27 A G 7: 28,392,767 (GRCm39) D16G probably benign Het
G6pc3 A G 11: 102,083,934 (GRCm39) S187G probably benign Het
Gucy2d G A 7: 98,121,513 (GRCm39) V995I probably null Het
Hmcn2 C A 2: 31,244,726 (GRCm39) P728T probably damaging Het
Il1r2 T C 1: 40,144,499 (GRCm39) L62P probably damaging Het
Ints7 T C 1: 191,314,603 (GRCm39) S63P probably damaging Het
Lyset T A 12: 102,710,431 (GRCm39) probably null Het
Mcf2l C A 8: 12,930,089 (GRCm39) D36E probably benign Het
Mfsd13b T G 7: 120,590,586 (GRCm39) I109S probably benign Het
Mier2 G A 10: 79,378,263 (GRCm39) H385Y possibly damaging Het
Mydgf C A 17: 56,490,734 (GRCm39) probably null Het
Nanog A T 6: 122,690,475 (GRCm39) L268F possibly damaging Het
Or12j5 T A 7: 140,084,315 (GRCm39) D19V probably benign Het
Or14a259 A T 7: 86,013,471 (GRCm39) C25S probably benign Het
Otud4 T A 8: 80,385,896 (GRCm39) N256K probably damaging Het
P2rx1 A T 11: 72,899,779 (GRCm39) D128V probably benign Het
Pappa G A 4: 65,254,001 (GRCm39) V1552I probably benign Het
Pax8 A T 2: 24,333,034 (GRCm39) F103I probably damaging Het
Ptk2b T A 14: 66,412,204 (GRCm39) S396C probably damaging Het
Rnf148 A G 6: 23,654,169 (GRCm39) Y276H probably damaging Het
Sec11c A T 18: 65,947,911 (GRCm39) I93L probably damaging Het
Serpinb2 T A 1: 107,450,910 (GRCm39) N217K probably benign Het
Slc2a13 T A 15: 91,457,105 (GRCm39) T66S probably damaging Het
Slc4a3 T C 1: 75,526,506 (GRCm39) M9T probably benign Het
Sord G A 2: 122,087,423 (GRCm39) V176I possibly damaging Het
Thbs4 G A 13: 92,890,792 (GRCm39) Q892* probably null Het
Thsd7b T A 1: 129,849,157 (GRCm39) D956E probably benign Het
Topbp1 T A 9: 103,186,176 (GRCm39) probably null Het
Tst T C 15: 78,289,453 (GRCm39) E194G probably damaging Het
Ttk T A 9: 83,739,380 (GRCm39) S484T possibly damaging Het
U2surp A G 9: 95,384,607 (GRCm39) S26P possibly damaging Het
Ugt2b37 C T 5: 87,388,714 (GRCm39) A500T probably benign Het
Utrn A T 10: 12,545,930 (GRCm39) Y1669* probably null Het
Vmn2r23 A T 6: 123,718,615 (GRCm39) Q656L probably damaging Het
Wdr7 A G 18: 64,120,231 (GRCm39) N1424S probably benign Het
Xkr9 A G 1: 13,771,603 (GRCm39) D373G probably benign Het
Zfp984 T A 4: 147,840,668 (GRCm39) Y61F probably benign 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
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'- CACACAGACAGGGTCATGTATAC -3'
(R):5'- TTTGAGCACTCTGGCTGTAC -3'

Sequencing Primer
(F):5'- CAGACAGGGTCATGTATACACATATG -3'
(R):5'- GAGCACTCTGGCTGTACAACTC -3'
Posted On 2021-01-18