Incidental Mutation 'R4883:Adam28'
ID 375460
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 042491-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R4883 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 68843476-68893291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68875552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 229 (I229V)
Ref Sequence ENSEMBL: ENSMUSP00000153354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022642] [ENSMUST00000111072] [ENSMUST00000224039]
AlphaFold Q9JLN6
Predicted Effect probably damaging
Transcript: ENSMUST00000022642
AA Change: I229V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: I229V

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: I229V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: I229V

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: I229V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224131
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,217,457 (GRCm39) D133G probably damaging Het
Abcg4 G T 9: 44,190,616 (GRCm39) H55Q probably damaging Het
Acaca T A 11: 84,142,116 (GRCm39) V641E probably benign Het
Adgrl3 T A 5: 81,837,493 (GRCm39) I793N probably damaging Het
Akr1d1 A T 6: 37,535,336 (GRCm39) D240V possibly damaging Het
Arhgef25 T C 10: 127,018,802 (GRCm39) D548G probably benign Het
Asl A G 5: 130,042,802 (GRCm39) probably null Het
Atg14 C T 14: 47,788,771 (GRCm39) R194Q probably damaging Het
BC004004 T A 17: 29,501,166 (GRCm39) F38L probably damaging Het
Btg1 T C 10: 96,453,259 (GRCm39) F25L probably benign Het
Btrc C T 19: 45,445,026 (GRCm39) P35S probably benign Het
Calcr T A 6: 3,714,705 (GRCm39) N142Y probably damaging Het
Ccdc138 A G 10: 58,397,818 (GRCm39) I553V probably benign Het
Ccdc198 T A 14: 49,482,560 (GRCm39) N52I probably damaging Het
Cdc42 T A 4: 137,056,115 (GRCm39) N132I probably benign Het
Ces1e A G 8: 93,950,716 (GRCm39) S22P probably benign Het
Clmn G T 12: 104,748,307 (GRCm39) D413E probably benign Het
Cramp1 T C 17: 25,201,293 (GRCm39) T730A probably benign Het
Dnah5 A T 15: 28,343,784 (GRCm39) M2395L probably benign Het
Ephx1 G T 1: 180,829,488 (GRCm39) S20Y possibly damaging Het
Exoc5 T G 14: 49,289,821 (GRCm39) E19A probably damaging Het
Fam120b T C 17: 15,623,294 (GRCm39) L424P probably benign Het
Fam89a G A 8: 125,467,823 (GRCm39) T163I possibly damaging Het
Fcrl2 G A 3: 87,166,922 (GRCm39) L24F possibly damaging Het
Fgd6 G T 10: 93,975,715 (GRCm39) V1377L probably benign Het
Glud1 T A 14: 34,057,347 (GRCm39) I337K possibly damaging Het
Gm6370 T A 5: 146,430,736 (GRCm39) I303N probably benign Het
Gm7995 T C 14: 42,133,383 (GRCm39) Y88H probably damaging Het
Gsdma3 T C 11: 98,520,393 (GRCm39) probably null Het
Gsdmc2 T C 15: 63,707,614 (GRCm39) D60G probably damaging Het
Hcn1 T A 13: 118,039,431 (GRCm39) probably null Het
Hectd1 A T 12: 51,831,030 (GRCm39) C936* probably null Het
Herc4 T A 10: 63,121,433 (GRCm39) S358T probably benign Het
Hk3 A G 13: 55,158,735 (GRCm39) C515R probably benign Het
Ighg1 A G 12: 113,291,138 (GRCm39) probably benign Het
Iqgap3 T A 3: 88,014,842 (GRCm39) C853S probably benign Het
Irx4 G A 13: 73,415,750 (GRCm39) A180T probably damaging Het
Kif20b A G 19: 34,943,522 (GRCm39) T1441A probably benign Het
Lifr A G 15: 7,215,106 (GRCm39) K738E possibly damaging Het
Lmntd2 A T 7: 140,792,531 (GRCm39) S218T probably damaging Het
Lnx1 A T 5: 74,768,530 (GRCm39) W353R probably benign Het
Lrfn3 G T 7: 30,055,238 (GRCm39) P569Q possibly damaging Het
Mamstr A G 7: 45,293,838 (GRCm39) I11V probably benign Het
Med31 T C 11: 72,104,975 (GRCm39) N32S possibly damaging Het
Mob3c A T 4: 115,690,928 (GRCm39) I173F probably benign Het
Morc3 A G 16: 93,667,250 (GRCm39) probably null Het
Mphosph9 T C 5: 124,437,108 (GRCm39) K412R probably damaging Het
Mtcl3 A T 10: 29,072,537 (GRCm39) N610Y probably damaging Het
Mthfd1l C T 10: 3,957,775 (GRCm39) P271S probably benign Het
Ncam1 C T 9: 49,453,183 (GRCm39) probably null Het
Ncbp3 T A 11: 72,960,578 (GRCm39) Y279N probably damaging Het
Ncoa6 G A 2: 155,248,687 (GRCm39) T1539I probably benign Het
Nedd4 G A 9: 72,647,515 (GRCm39) probably null Het
Neil1 A G 9: 57,054,206 (GRCm39) V38A probably damaging Het
Ngf T A 3: 102,427,961 (GRCm39) F237I probably damaging Het
Nol3 A G 8: 106,005,888 (GRCm39) Q94R possibly damaging Het
Obox1 A G 7: 15,290,263 (GRCm39) N202S probably damaging Het
Odc1 T A 12: 17,597,386 (GRCm39) N29K possibly damaging Het
Or2b7 C T 13: 21,739,658 (GRCm39) R178H probably benign Het
Or2h15 T C 17: 38,441,508 (GRCm39) T192A probably damaging Het
Or4a69 C T 2: 89,312,652 (GRCm39) V276I probably benign Het
Or52a20 A C 7: 103,365,914 (GRCm39) I38L probably benign Het
P2rx7 T A 5: 122,819,129 (GRCm39) V517E probably damaging Het
Parm1 A G 5: 91,741,775 (GRCm39) T48A possibly damaging Het
Pcdh9 T A 14: 94,126,164 (GRCm39) D2V possibly damaging Het
Pgm3 G T 9: 86,451,378 (GRCm39) T92N probably damaging Het
Plcg2 G T 8: 118,333,872 (GRCm39) G882* probably null Het
Ptpn14 C T 1: 189,582,997 (GRCm39) P615S probably damaging Het
Ptprk A T 10: 28,464,928 (GRCm39) Y1244F probably damaging Het
Rere G A 4: 150,700,510 (GRCm39) A1162T probably damaging Het
Rfx2 T C 17: 57,090,747 (GRCm39) E391G probably damaging Het
Sema4c A G 1: 36,591,097 (GRCm39) V414A probably damaging Het
Serpinb10 A T 1: 107,468,681 (GRCm39) N185I probably damaging Het
Shroom3 T G 5: 93,098,993 (GRCm39) M1410R probably benign Het
Slc13a1 A T 6: 24,134,356 (GRCm39) S176T probably benign Het
Sntb1 A T 15: 55,506,198 (GRCm39) Y458* probably null Het
Sorcs1 C T 19: 50,220,741 (GRCm39) V570I probably benign Het
Sp8 T A 12: 118,812,805 (GRCm39) V220E probably damaging Het
Spry1 C T 3: 37,696,868 (GRCm39) T37M possibly damaging Het
Sspo A T 6: 48,437,756 (GRCm39) H1305L probably benign Het
Tbc1d22a A G 15: 86,381,117 (GRCm39) D509G possibly damaging Het
Tmem108 A T 9: 103,376,276 (GRCm39) V391D possibly damaging Het
Tmem132d T A 5: 128,346,366 (GRCm39) H52L possibly damaging Het
Tmem132d T A 5: 128,346,364 (GRCm39) I53F probably damaging Het
Tnnt2 A T 1: 135,775,496 (GRCm39) R87* probably null Het
Ube3a A T 7: 58,893,198 (GRCm39) M1L probably benign Het
Unc79 A G 12: 103,060,592 (GRCm39) T1119A probably damaging Het
Usf3 A T 16: 44,039,942 (GRCm39) H1474L probably damaging Het
Vcpip1 G A 1: 9,817,423 (GRCm39) T320I probably damaging Het
Vmn1r56 A G 7: 5,199,443 (GRCm39) L58P probably damaging Het
Wdr53 A T 16: 32,075,796 (GRCm39) K334* probably null Het
Zbtb40 T A 4: 136,728,241 (GRCm39) R459W probably benign Het
Zfc3h1 T A 10: 115,246,547 (GRCm39) L878Q probably damaging Het
Zfp286 T C 11: 62,671,455 (GRCm39) D206G probably benign Het
Zfp46 T A 4: 136,017,792 (GRCm39) C209S probably damaging Het
Zup1 G T 10: 33,825,038 (GRCm39) T148K 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
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
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'- CCTTAAAGTCCCTGGTACTCATAGC -3'
(R):5'- TGACCTGCTATTTCAAGGGAGAAAAC -3'

Sequencing Primer
(F):5'- GGTACTCATAGCCCCACAAGACTTG -3'
(R):5'- TCTCCAAGCTCCTTAATTTACATTG -3'
Posted On 2016-03-17