Incidental Mutation 'R5385:Adam23'
ID 425023
Institutional Source Beutler Lab
Gene Symbol Adam23
Ensembl Gene ENSMUSG00000025964
Gene Name a disintegrin and metallopeptidase domain 23
Synonyms MDC3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5385 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 63484880-63635263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63590970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 479 (D479G)
Ref Sequence ENSEMBL: ENSMUSP00000109742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087374] [ENSMUST00000114103] [ENSMUST00000114107]
AlphaFold Q9R1V7
Predicted Effect possibly damaging
Transcript: ENSMUST00000087374
AA Change: D479G

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964
AA Change: D479G

DomainStartEndE-ValueType
signal peptide 1 55 N/A INTRINSIC
Pfam:Pep_M12B_propep 89 247 1.8e-30 PFAM
Pfam:Reprolysin_5 295 470 4.3e-9 PFAM
Pfam:Reprolysin 296 493 1.1e-58 PFAM
Pfam:Reprolysin_3 320 426 1.4e-8 PFAM
DISIN 508 583 2.81e-28 SMART
ACR 584 725 1.11e-60 SMART
EGF 732 766 1.87e1 SMART
transmembrane domain 791 813 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097717
SMART Domains Protein: ENSMUSP00000095324
Gene: ENSMUSG00000025964

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 2 63 6.3e-16 PFAM
Pfam:Reprolysin_5 111 286 2.7e-7 PFAM
Pfam:Reprolysin 112 309 5.7e-57 PFAM
Pfam:Reprolysin_3 136 240 8.7e-7 PFAM
DISIN 324 399 1.4e-30 SMART
ACR 400 541 3.6e-63 SMART
EGF 548 582 9e-2 SMART
transmembrane domain 607 629 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000114101
SMART Domains Protein: ENSMUSP00000109736
Gene: ENSMUSG00000025964

DomainStartEndE-ValueType
signal peptide 1 55 N/A INTRINSIC
Pfam:Pep_M12B_propep 87 247 1.3e-30 PFAM
Pfam:Reprolysin_5 295 470 3.3e-9 PFAM
Pfam:Reprolysin 296 493 8.1e-59 PFAM
Pfam:Reprolysin_3 320 426 1.1e-8 PFAM
DISIN 508 583 2.81e-28 SMART
ACR 584 686 4.34e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114103
AA Change: D479G

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964
AA Change: D479G

DomainStartEndE-ValueType
signal peptide 1 55 N/A INTRINSIC
Pfam:Pep_M12B_propep 89 247 1.8e-30 PFAM
Pfam:Reprolysin_5 295 470 4.3e-9 PFAM
Pfam:Reprolysin 296 493 1.1e-58 PFAM
Pfam:Reprolysin_3 320 426 1.4e-8 PFAM
DISIN 508 583 2.81e-28 SMART
ACR 584 725 1.11e-60 SMART
EGF 732 766 1.87e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114107
AA Change: D479G

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964
AA Change: D479G

DomainStartEndE-ValueType
signal peptide 1 55 N/A INTRINSIC
Pfam:Pep_M12B_propep 89 247 1.8e-30 PFAM
Pfam:Reprolysin_5 295 470 4.3e-9 PFAM
Pfam:Reprolysin 296 493 1.1e-58 PFAM
Pfam:Reprolysin_3 320 426 1.4e-8 PFAM
DISIN 508 583 2.81e-28 SMART
ACR 584 725 1.11e-60 SMART
EGF 732 766 1.87e1 SMART
transmembrane domain 791 813 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182642
SMART Domains Protein: ENSMUSP00000138362
Gene: ENSMUSG00000025964

DomainStartEndE-ValueType
signal peptide 1 55 N/A INTRINSIC
Pfam:Pep_M12B_propep 89 247 2.2e-30 PFAM
Pfam:Reprolysin_5 295 470 4.6e-9 PFAM
Pfam:Reprolysin 296 493 1.4e-58 PFAM
Pfam:Reprolysin_3 320 426 1.6e-8 PFAM
DISIN 508 583 2.81e-28 SMART
ACR 584 725 1.11e-60 SMART
EGF 732 766 1.87e1 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an inactive metalloprotease and disintegrin domains. Transgenic disruption of this gene in mice results in postnatal neurological defects including tremor and ataxia resulting in death by 2 weeks of age. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for an insertional mutation that inactivates the gene are smaller than normal littermates, show delayed lung development, are lethal by postnatal day 14, and display severe tremor and ataxia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 129 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a T C 10: 80,421,446 (GRCm39) T175A probably benign Het
Adgrl3 T G 5: 81,874,648 (GRCm39) Y1050D probably damaging Het
Ago4 A G 4: 126,411,349 (GRCm39) I103T probably benign Het
Ajuba T C 14: 54,807,855 (GRCm39) Y459C probably damaging Het
Aldh7a1 T A 18: 56,667,325 (GRCm39) N316Y possibly damaging Het
Alyref2 A G 1: 171,331,271 (GRCm39) N16S probably benign Het
Ankhd1 A G 18: 36,724,548 (GRCm39) E402G probably damaging Het
Ankrd36 A G 11: 5,639,340 (GRCm39) probably benign Het
Ap2b1 T C 11: 83,233,427 (GRCm39) V480A probably damaging Het
Arhgap30 A G 1: 171,235,848 (GRCm39) R741G probably benign Het
Canx A G 11: 50,192,639 (GRCm39) L325P probably damaging Het
Ccpg1 G A 9: 72,920,326 (GRCm39) S647N probably benign Het
Cdc37l1 T G 19: 28,989,343 (GRCm39) S267A possibly damaging Het
Cert1 A G 13: 96,765,575 (GRCm39) T447A possibly damaging Het
Ces1f A T 8: 93,992,388 (GRCm39) C354* probably null Het
Cpne1 A T 2: 155,916,284 (GRCm39) V350D probably damaging Het
Ctdsp2 A G 10: 126,832,326 (GRCm39) T262A probably benign Het
Cypt4 A G 9: 24,536,596 (GRCm39) K29E possibly damaging Het
Dlg2 T C 7: 91,737,784 (GRCm39) V422A probably damaging Het
Dmxl2 A G 9: 54,286,041 (GRCm39) S2715P probably benign Het
Dnah3 T A 7: 119,524,126 (GRCm39) K3953N probably damaging Het
Dnmt1 A G 9: 20,829,776 (GRCm39) V647A probably damaging Het
Duox2 A G 2: 122,125,617 (GRCm39) V330A probably benign Het
Dusp8 T A 7: 141,643,730 (GRCm39) Q61L possibly damaging Het
Dync2h1 T C 9: 7,016,791 (GRCm39) D3573G probably damaging Het
Ears2 G C 7: 121,643,600 (GRCm39) T426S probably benign Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Fam91a1 G A 15: 58,320,243 (GRCm39) S645N probably benign Het
Fat3 A T 9: 15,833,971 (GRCm39) L4207Q possibly damaging Het
Fbxo38 A G 18: 62,674,042 (GRCm39) M13T probably benign Het
Fbxo48 G T 11: 16,904,329 (GRCm39) L160F possibly damaging Het
Fer1l4 G A 2: 155,879,286 (GRCm39) Q906* probably null Het
Fpr2 C A 17: 18,113,309 (GRCm39) H102N probably benign Het
Gm10134 T A 2: 28,396,372 (GRCm39) probably benign Het
Gpr107 A G 2: 31,104,263 (GRCm39) T523A probably benign Het
Grin3a G A 4: 49,719,313 (GRCm39) P811L probably damaging Het
Hivep1 A T 13: 42,317,871 (GRCm39) probably null Het
Hmcn2 A G 2: 31,350,333 (GRCm39) T5077A probably benign Het
Hpse C T 5: 100,856,590 (GRCm39) W136* probably null Het
Ifitm3 T C 7: 140,590,554 (GRCm39) N2S probably benign Het
Ifnar2 T A 16: 91,201,086 (GRCm39) D442E possibly damaging Het
Jade1 T A 3: 41,546,137 (GRCm39) I54N probably damaging Het
Jag1 A T 2: 136,937,464 (GRCm39) H303Q possibly damaging Het
Kcnh4 T C 11: 100,643,076 (GRCm39) D397G probably damaging Het
Kcnj1 A G 9: 32,308,019 (GRCm39) R148G probably damaging Het
Lct T G 1: 128,239,354 (GRCm39) K277N possibly damaging Het
Loxl3 A G 6: 83,027,593 (GRCm39) M712V probably damaging Het
Ly75 A G 2: 60,133,985 (GRCm39) C1547R probably damaging Het
Marcks A G 10: 37,014,453 (GRCm39) S27P probably damaging Het
Mef2c A G 13: 83,810,532 (GRCm39) T347A probably benign Het
Mmp3 C T 9: 7,451,759 (GRCm39) R366* probably null Het
Mrgprx2 T C 7: 48,132,753 (GRCm39) T22A probably benign Het
Msc C A 1: 14,825,644 (GRCm39) R110L probably damaging Het
Mtcl3 A G 10: 29,072,766 (GRCm39) D686G probably benign Het
Myh11 A T 16: 14,025,872 (GRCm39) V1366D possibly damaging Het
Ncf1 A G 5: 134,250,659 (GRCm39) L373P probably damaging Het
Neb A T 2: 52,079,873 (GRCm39) I85N probably damaging Het
Nfkb1 A G 3: 135,318,303 (GRCm39) V310A possibly damaging Het
Nop2 T C 6: 125,121,324 (GRCm39) V702A probably benign Het
Nudt12 A G 17: 59,310,434 (GRCm39) W390R probably damaging Het
Or10ag53 C T 2: 87,082,827 (GRCm39) P182L probably benign Het
Or10v9 T A 19: 11,832,541 (GRCm39) I259F probably damaging Het
Or11g24 T A 14: 50,662,846 (GRCm39) V290E possibly damaging Het
Or1af1 G T 2: 37,109,599 (GRCm39) A33S possibly damaging Het
Or51e1 T C 7: 102,358,553 (GRCm39) L29P probably damaging Het
Or6c208 A G 10: 129,223,633 (GRCm39) I44V probably benign Het
Or6n2 A T 1: 173,897,036 (GRCm39) K57N probably benign Het
Or8a1b A T 9: 37,623,317 (GRCm39) V86E probably damaging Het
Or8c11 A T 9: 38,289,281 (GRCm39) I29F probably benign Het
Or8g2b A G 9: 39,751,126 (GRCm39) Y132C possibly damaging Het
Otub2 G A 12: 103,359,055 (GRCm39) probably benign Het
Pck2 A G 14: 55,782,688 (GRCm39) E339G probably damaging Het
Pdcd7 G A 9: 65,265,974 (GRCm39) W477* probably null Het
Pdpk1 G A 17: 24,317,114 (GRCm39) Q250* probably null Het
Pigb T A 9: 72,946,827 (GRCm39) H16L probably benign Het
Pitpnm1 T C 19: 4,153,435 (GRCm39) F197S probably damaging Het
Plekhh2 T C 17: 84,864,894 (GRCm39) V94A probably benign Het
Pnpla7 C A 2: 24,931,031 (GRCm39) P882Q probably damaging Het
Pold2 A G 11: 5,826,760 (GRCm39) L58P probably damaging Het
Pomt1 C G 2: 32,134,311 (GRCm39) Y277* probably null Het
Prex2 A G 1: 11,210,204 (GRCm39) D548G probably damaging Het
Prkra T G 2: 76,469,622 (GRCm39) T146P probably damaging Het
Prss51 T A 14: 64,334,543 (GRCm39) V108E probably damaging Het
Rai2 A G X: 160,561,636 (GRCm39) N363S probably benign Het
Ranbp17 A T 11: 33,169,241 (GRCm39) V991D possibly damaging Het
Riox2 T A 16: 59,306,979 (GRCm39) M290K probably benign Het
Rnpepl1 T A 1: 92,844,914 (GRCm39) L402Q probably damaging Het
S1pr2 T C 9: 20,878,890 (GRCm39) T313A probably benign Het
Sesn2 A G 4: 132,226,575 (GRCm39) I173T probably damaging Het
Setx T G 2: 29,024,045 (GRCm39) probably null Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Sgsm3 T C 15: 80,892,200 (GRCm39) V256A probably benign Het
Shroom4 T A X: 6,497,523 (GRCm39) C894* probably null Het
Slc13a5 T A 11: 72,149,903 (GRCm39) E159D probably benign Het
Slc16a7 A G 10: 125,130,473 (GRCm39) Y71H possibly damaging Het
Slc28a2b C A 2: 122,353,259 (GRCm39) L480I probably benign Het
Slc4a7 T C 14: 14,773,345 (GRCm38) F772L possibly damaging Het
Snapc4 A G 2: 26,264,515 (GRCm39) S275P probably benign Het
Sorl1 T C 9: 41,968,580 (GRCm39) T558A possibly damaging Het
Sspo C T 6: 48,439,187 (GRCm39) P1612S probably benign Het
Stard9 A G 2: 120,531,111 (GRCm39) E2456G probably damaging Het
Stx1b A T 7: 127,414,575 (GRCm39) D16E probably benign Het
Supv3l1 A T 10: 62,266,375 (GRCm39) N600K possibly damaging Het
Syne1 C T 10: 4,991,494 (GRCm39) V557I probably benign Het
Tanc2 T A 11: 105,667,672 (GRCm39) D84E probably damaging Het
Tep1 A T 14: 51,105,774 (GRCm39) L82Q probably damaging Het
Tfip11 T C 5: 112,479,086 (GRCm39) probably null Het
Thtpa G T 14: 55,333,290 (GRCm39) R125L probably damaging Het
Tm9sf1 C T 14: 55,880,301 (GRCm39) G32D possibly damaging Het
Tmcc3 A T 10: 94,415,015 (GRCm39) N239I probably damaging Het
Tpd52 A T 3: 8,996,255 (GRCm39) probably null Het
Traf6 T A 2: 101,515,100 (GRCm39) C85* probably null Het
Trim68 T G 7: 102,327,990 (GRCm39) D321A probably damaging Het
Trmt6 C A 2: 132,650,703 (GRCm39) A302S probably benign Het
Ttbk1 T C 17: 46,758,558 (GRCm39) D692G probably benign Het
Ttc17 A T 2: 94,133,985 (GRCm39) W1067R probably damaging Het
Ttc6 T A 12: 57,689,821 (GRCm39) probably null Het
Tut7 A T 13: 59,937,660 (GRCm39) probably null Het
Txnrd2 T G 16: 18,296,442 (GRCm39) I468S probably damaging Het
Ube2b A T 11: 51,879,471 (GRCm39) Y100N probably damaging Het
Ucn3 A T 13: 3,991,474 (GRCm39) F59L probably benign Het
Uggt1 A G 1: 36,223,493 (GRCm39) Y599H probably damaging Het
Ulk3 T A 9: 57,498,023 (GRCm39) I108N possibly damaging Het
Vav3 A G 3: 109,434,791 (GRCm39) M441V possibly damaging Het
Vmn2r1 T A 3: 64,008,819 (GRCm39) D499E possibly damaging Het
Vmn2r118 C T 17: 55,918,565 (GRCm39) G109D probably benign Het
Vmn2r5 T A 3: 64,416,931 (GRCm39) M76L probably benign Het
Vwa3a A G 7: 120,389,365 (GRCm39) K68E possibly damaging Het
Zmiz1 A T 14: 25,650,237 (GRCm39) Y459F probably damaging Het
Other mutations in Adam23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Adam23 APN 1 63,610,113 (GRCm39) missense probably damaging 0.99
IGL00957:Adam23 APN 1 63,573,470 (GRCm39) missense probably benign 0.27
IGL01338:Adam23 APN 1 63,591,014 (GRCm39) missense possibly damaging 0.50
IGL01835:Adam23 APN 1 63,582,278 (GRCm39) missense probably damaging 1.00
IGL01928:Adam23 APN 1 63,596,605 (GRCm39) missense probably damaging 1.00
IGL02563:Adam23 APN 1 63,607,136 (GRCm39) splice site probably benign
IGL02981:Adam23 APN 1 63,610,112 (GRCm39) missense probably damaging 0.99
IGL03037:Adam23 APN 1 63,610,176 (GRCm39) missense possibly damaging 0.63
IGL03176:Adam23 APN 1 63,602,575 (GRCm39) missense probably damaging 1.00
BB007:Adam23 UTSW 1 63,624,586 (GRCm39) missense possibly damaging 0.89
BB017:Adam23 UTSW 1 63,624,586 (GRCm39) missense possibly damaging 0.89
IGL02991:Adam23 UTSW 1 63,586,978 (GRCm39) critical splice donor site probably null
R0057:Adam23 UTSW 1 63,610,078 (GRCm39) missense probably damaging 1.00
R0057:Adam23 UTSW 1 63,610,078 (GRCm39) missense probably damaging 1.00
R0125:Adam23 UTSW 1 63,573,515 (GRCm39) missense probably benign 0.00
R0477:Adam23 UTSW 1 63,596,559 (GRCm39) splice site probably benign
R0538:Adam23 UTSW 1 63,607,003 (GRCm39) splice site probably benign
R0617:Adam23 UTSW 1 63,582,306 (GRCm39) missense probably benign 0.06
R1506:Adam23 UTSW 1 63,586,973 (GRCm39) missense probably benign 0.01
R1599:Adam23 UTSW 1 63,610,092 (GRCm39) missense possibly damaging 0.65
R1755:Adam23 UTSW 1 63,582,329 (GRCm39) missense probably damaging 1.00
R1813:Adam23 UTSW 1 63,584,731 (GRCm39) missense probably benign 0.07
R1858:Adam23 UTSW 1 63,596,615 (GRCm39) missense probably benign 0.12
R1896:Adam23 UTSW 1 63,584,731 (GRCm39) missense probably benign 0.07
R1943:Adam23 UTSW 1 63,516,916 (GRCm39) critical splice donor site probably null
R2147:Adam23 UTSW 1 63,573,521 (GRCm39) splice site probably null
R2211:Adam23 UTSW 1 63,612,288 (GRCm39) intron probably benign
R2233:Adam23 UTSW 1 63,584,671 (GRCm39) missense probably benign
R2249:Adam23 UTSW 1 63,574,335 (GRCm39) nonsense probably null
R2363:Adam23 UTSW 1 63,596,650 (GRCm39) splice site probably null
R3800:Adam23 UTSW 1 63,590,933 (GRCm39) nonsense probably null
R3974:Adam23 UTSW 1 63,586,888 (GRCm39) nonsense probably null
R3975:Adam23 UTSW 1 63,586,888 (GRCm39) nonsense probably null
R4066:Adam23 UTSW 1 63,602,584 (GRCm39) missense probably damaging 1.00
R4382:Adam23 UTSW 1 63,605,787 (GRCm39) missense probably damaging 1.00
R4383:Adam23 UTSW 1 63,605,787 (GRCm39) missense probably damaging 1.00
R4384:Adam23 UTSW 1 63,605,787 (GRCm39) missense probably damaging 1.00
R4385:Adam23 UTSW 1 63,605,787 (GRCm39) missense probably damaging 1.00
R5435:Adam23 UTSW 1 63,585,612 (GRCm39) missense possibly damaging 0.73
R6465:Adam23 UTSW 1 63,605,827 (GRCm39) missense probably damaging 1.00
R6490:Adam23 UTSW 1 63,596,613 (GRCm39) missense probably damaging 1.00
R6967:Adam23 UTSW 1 63,602,495 (GRCm39) splice site probably null
R7139:Adam23 UTSW 1 63,584,736 (GRCm39) missense probably damaging 1.00
R7584:Adam23 UTSW 1 63,584,621 (GRCm39) missense probably damaging 1.00
R7930:Adam23 UTSW 1 63,624,586 (GRCm39) missense possibly damaging 0.89
R8261:Adam23 UTSW 1 63,567,957 (GRCm39) missense noncoding transcript
R8425:Adam23 UTSW 1 63,624,536 (GRCm39) missense probably damaging 1.00
R8818:Adam23 UTSW 1 63,584,627 (GRCm39) missense probably damaging 1.00
R8887:Adam23 UTSW 1 63,554,744 (GRCm39) missense probably damaging 1.00
R8890:Adam23 UTSW 1 63,624,524 (GRCm39) missense possibly damaging 0.67
R8989:Adam23 UTSW 1 63,588,948 (GRCm39) missense probably damaging 0.96
R9307:Adam23 UTSW 1 63,576,131 (GRCm39) missense probably damaging 1.00
R9469:Adam23 UTSW 1 63,584,671 (GRCm39) missense probably benign
R9599:Adam23 UTSW 1 63,620,359 (GRCm39) missense probably benign 0.41
R9609:Adam23 UTSW 1 63,576,102 (GRCm39) missense probably benign 0.03
R9774:Adam23 UTSW 1 63,585,583 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- CCGTAGATGTAGCAGCTTGTAC -3'
(R):5'- ACCTGAACTTGCAGTGTCTG -3'

Sequencing Primer
(F):5'- CCAAGCATCTTACCAAATATTTGTGC -3'
(R):5'- AACTTGCAGTGTCTGGGAAGC -3'
Posted On 2016-08-04