Incidental Mutation 'R9163:Adam28'
ID 695873
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 068975-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R9163 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 68843476-68893291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68866531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 443 (K443E)
Ref Sequence ENSEMBL: ENSMUSP00000022642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022642] [ENSMUST00000111072] [ENSMUST00000224039]
AlphaFold Q9JLN6
Predicted Effect probably damaging
Transcript: ENSMUST00000022642
AA Change: K443E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: K443E

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: K443E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: K443E

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: K443E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (69/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,393,400 (GRCm39) S351P possibly damaging Het
4930558K02Rik A G 1: 161,777,174 (GRCm39) S128P probably benign Het
Adam17 C T 12: 21,401,588 (GRCm39) V136I probably benign Het
Adam19 A G 11: 46,018,176 (GRCm39) T413A probably benign Het
Adgrv1 T A 13: 81,567,541 (GRCm39) T5211S probably benign Het
Adnp2 A T 18: 80,172,200 (GRCm39) N736K possibly damaging Het
Agtpbp1 C T 13: 59,609,884 (GRCm39) W1082* probably null Het
Ap3b2 T G 7: 81,113,546 (GRCm39) M888L unknown Het
Arhgap35 C A 7: 16,295,549 (GRCm39) R1172L possibly damaging Het
Arrdc3 T A 13: 81,041,506 (GRCm39) D402E probably benign Het
Ccdc14 T C 16: 34,511,118 (GRCm39) F31L possibly damaging Het
Cd5l T G 3: 87,274,932 (GRCm39) L157R probably benign Het
Cdc14a G T 3: 116,122,213 (GRCm39) D251E possibly damaging Het
Cfap210 A T 2: 69,606,510 (GRCm39) I302K probably benign Het
Chmp2a T A 7: 12,766,645 (GRCm39) Q91L possibly damaging Het
Col12a1 A G 9: 79,548,729 (GRCm39) probably null Het
Ctdsp1 G T 1: 74,434,126 (GRCm39) R201L possibly damaging Het
Dhx15 C T 5: 52,342,198 (GRCm39) R40H probably damaging Het
Dnph1 A G 17: 46,809,860 (GRCm39) Y134C probably damaging Het
Foxo1 T A 3: 52,253,301 (GRCm39) V488D probably benign Het
Gcn1 C A 5: 115,742,944 (GRCm39) N1538K probably benign Het
Gldc T A 19: 30,111,686 (GRCm39) E500V probably benign Het
Hhip G A 8: 80,701,743 (GRCm39) T597I probably benign Het
Hmgn1 A G 16: 95,928,509 (GRCm39) probably null Het
Ifi205 A T 1: 173,844,988 (GRCm39) S265T possibly damaging Het
Igkv1-131 T C 6: 67,743,753 (GRCm39) M2V probably benign Het
Irgm2 T G 11: 58,111,280 (GRCm39) S324A probably damaging Het
Jarid2 C G 13: 45,064,727 (GRCm39) D937E possibly damaging Het
Jrkl A T 9: 13,245,404 (GRCm39) W86R probably damaging Het
Kbtbd3 A G 9: 4,330,584 (GRCm39) I319M probably benign Het
Klhl7 T C 5: 24,364,465 (GRCm39) Y500H probably damaging Het
Lats1 C T 10: 7,578,052 (GRCm39) A392V probably benign Het
Llgl1 G T 11: 60,600,402 (GRCm39) A584S probably benign Het
Macf1 G T 4: 123,403,686 (GRCm39) S560Y probably damaging Het
Or4c11 C T 2: 88,695,795 (GRCm39) P282L possibly damaging Het
Or8c10 T A 9: 38,279,378 (GRCm39) C169S probably damaging Het
Pde10a G A 17: 9,181,791 (GRCm39) C498Y possibly damaging Het
Pde4dip A G 3: 97,659,123 (GRCm39) probably null Het
Pdhx G A 2: 102,852,561 (GRCm39) P434L probably damaging Het
Pdlim3 T C 8: 46,338,711 (GRCm39) probably null Het
Pik3c3 T C 18: 30,427,483 (GRCm39) probably null Het
Prkag1 T C 15: 98,711,900 (GRCm39) K242R possibly damaging Het
Rap1b A G 10: 117,654,391 (GRCm39) S150P possibly damaging Het
Scn4a A G 11: 106,217,076 (GRCm39) S1102P probably damaging Het
Scrib A G 15: 75,921,108 (GRCm39) Y1332H probably damaging Het
Sim1 A G 10: 50,772,165 (GRCm39) E58G probably benign Het
Slc13a1 C T 6: 24,097,578 (GRCm39) probably null Het
Slc17a8 A G 10: 89,425,444 (GRCm39) V380A probably damaging Het
Slc5a4b G T 10: 75,917,165 (GRCm39) Y290* probably null Het
Slco4c1 A G 1: 96,764,633 (GRCm39) F480L probably damaging Het
Srcap T C 7: 127,121,162 (GRCm39) V146A unknown Het
Ssc5d T A 7: 4,936,432 (GRCm39) D559E probably damaging Het
Sstr5 A C 17: 25,710,584 (GRCm39) I215S probably damaging Het
Stambpl1 G A 19: 34,212,634 (GRCm39) C268Y probably benign Het
Stard3nl C A 13: 19,560,809 (GRCm39) probably benign Het
Sycp3 T C 10: 88,299,734 (GRCm39) probably null Het
Syne2 A T 12: 76,009,349 (GRCm39) M2417L possibly damaging Het
Tenm4 T G 7: 96,473,080 (GRCm39) Y959D probably damaging Het
Tmem132d T A 5: 127,869,570 (GRCm39) D588V possibly damaging Het
Tnfrsf26 T C 7: 143,172,130 (GRCm39) E60G possibly damaging Het
Topbp1 A G 9: 103,205,767 (GRCm39) R802G probably benign Het
Trmu T C 15: 85,781,096 (GRCm39) V360A probably benign Het
Tshz2 G A 2: 169,726,562 (GRCm39) C386Y probably damaging Het
Ttn A T 2: 76,700,771 (GRCm39) D61E Het
Upf1 T C 8: 70,792,674 (GRCm39) T345A probably benign Het
Vmn2r23 T A 6: 123,718,782 (GRCm39) C712S probably damaging Het
Vmn2r44 C T 7: 8,371,091 (GRCm39) V652I probably benign Het
Wfdc1 T C 8: 120,393,302 (GRCm39) V8A probably benign Het
Xrn1 A G 9: 95,880,274 (GRCm39) Y738C probably benign Het
Zfp618 T G 4: 63,051,511 (GRCm39) V764G probably damaging Het
Znfx1 A T 2: 166,898,261 (GRCm39) M221K 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
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'- GTACCCAGTGAGTGATTGAGTC -3'
(R):5'- TGGACAAAACATGTATGTCAAAGAC -3'

Sequencing Primer
(F):5'- TCTTTATTTTCAAGGAAGAAAAACGC -3'
(R):5'- CTGCTACATATGTGACTAGAGCC -3'
Posted On 2022-02-07