Incidental Mutation 'R6490:Adam23'
ID 522716
Institutional Source Beutler Lab
Gene Symbol Adam23
Ensembl Gene ENSMUSG00000025964
Gene Name a disintegrin and metallopeptidase domain 23
Synonyms MDC3
MMRRC Submission 044622-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6490 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 63484880-63635263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63596613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 565 (D565G)
Ref Sequence ENSEMBL: ENSMUSP00000109742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087374] [ENSMUST00000114103] [ENSMUST00000114107]
AlphaFold Q9R1V7
Predicted Effect probably damaging
Transcript: ENSMUST00000087374
AA Change: D565G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964
AA Change: D565G

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 probably damaging
Transcript: ENSMUST00000114103
AA Change: D565G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964
AA Change: D565G

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 probably damaging
Transcript: ENSMUST00000114107
AA Change: D565G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964
AA Change: D565G

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
Meta Mutation Damage Score 0.9155 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 99% (69/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik T G 8: 122,267,293 (GRCm39) K38T probably benign Het
Abca13 A G 11: 9,248,661 (GRCm39) T2803A probably benign Het
Adcy3 A G 12: 4,262,150 (GRCm39) T1067A probably damaging Het
Agrn A T 4: 156,251,819 (GRCm39) Y1921* probably null Het
Apc2 A G 10: 80,149,757 (GRCm39) N1604D probably benign Het
Atxn7 A T 14: 14,089,446 (GRCm38) R321* probably null Het
Axin1 T A 17: 26,361,968 (GRCm39) I104N probably damaging Het
Bahd1 T C 2: 118,747,619 (GRCm39) S413P probably benign Het
Baz2b C T 2: 59,732,073 (GRCm39) C2024Y probably damaging Het
Cacna1i T A 15: 80,262,448 (GRCm39) V1388E probably damaging Het
Ces4a G A 8: 105,876,090 (GRCm39) V544M probably benign Het
Cntn3 G A 6: 102,255,301 (GRCm39) T199I probably damaging Het
Col6a4 A T 9: 105,952,191 (GRCm39) L569* probably null Het
Ctnna2 A G 6: 77,120,892 (GRCm39) I12T probably benign Het
Dhx37 A G 5: 125,496,196 (GRCm39) M754T probably benign Het
Dmrt1 T A 19: 25,523,395 (GRCm39) S249T possibly damaging Het
Ell G T 8: 71,025,553 (GRCm39) S59I probably damaging Het
Fam89a G A 8: 125,467,982 (GRCm39) S110F probably damaging Het
Fer1l4 A C 2: 155,889,834 (GRCm39) F278V possibly damaging Het
Fyn T C 10: 39,427,398 (GRCm39) I427T probably damaging Het
Galnt14 T C 17: 73,832,365 (GRCm39) D250G probably damaging Het
Glp1r T C 17: 31,143,546 (GRCm39) V194A probably damaging Het
Glt1d1 T A 5: 127,721,360 (GRCm39) probably null Het
Gm7995 A G 14: 42,133,327 (GRCm39) K69R probably benign Het
Grip1 A G 10: 119,822,329 (GRCm39) T379A possibly damaging Het
Gtpbp2 G T 17: 46,479,147 (GRCm39) A570S probably benign Het
Hmcn1 T C 1: 150,459,029 (GRCm39) I5192V probably benign Het
Igfl3 A T 7: 17,913,844 (GRCm39) I65F possibly damaging Het
Igsf10 G T 3: 59,236,992 (GRCm39) T1063K probably benign Het
Itfg1 A G 8: 86,466,930 (GRCm39) V381A probably benign Het
Itprid1 A G 6: 55,953,405 (GRCm39) D907G probably damaging Het
Jmjd8 T A 17: 26,048,086 (GRCm39) V16E probably benign Het
Kank1 A G 19: 25,387,449 (GRCm39) Y374C probably damaging Het
Kcnma1 C T 14: 23,386,165 (GRCm39) V891I possibly damaging Het
Kif20a C A 18: 34,762,543 (GRCm39) T472K possibly damaging Het
Klhl32 A T 4: 24,711,578 (GRCm39) probably benign Het
Lrrc37a A G 11: 103,347,486 (GRCm39) S3070P unknown Het
Mettl21e T G 1: 44,249,425 (GRCm39) Y77S probably damaging Het
Mlst8 G T 17: 24,696,935 (GRCm39) D82E probably benign Het
Mrgprx2 A T 7: 48,132,617 (GRCm39) L67Q probably damaging Het
Mylk T A 16: 34,750,237 (GRCm39) L1192Q possibly damaging Het
Myt1l A T 12: 29,882,365 (GRCm39) Y520F unknown Het
Naip2 A T 13: 100,297,193 (GRCm39) W948R probably benign Het
Nlrp9a A C 7: 26,250,311 (GRCm39) K25N probably damaging Het
Nsd3 T C 8: 26,204,212 (GRCm39) C414R probably damaging Het
Oit3 A T 10: 59,274,374 (GRCm39) V142D possibly damaging Het
Or2aj6 C T 16: 19,443,194 (GRCm39) V219M probably benign Het
P2ry6 T C 7: 100,587,580 (GRCm39) T260A probably damaging Het
Papola A G 12: 105,771,196 (GRCm39) Q87R probably benign Het
Pla2g4a T A 1: 149,727,086 (GRCm39) R557* probably null Het
Rgs13 G T 1: 144,016,576 (GRCm39) H56N probably damaging Het
Sbf1 T C 15: 89,189,111 (GRCm39) S537G probably benign Het
Sntg1 A C 1: 8,653,508 (GRCm39) L243R possibly damaging Het
Spata31h1 A T 10: 82,125,138 (GRCm39) L2624Q possibly damaging Het
Stam2 T C 2: 52,610,954 (GRCm39) T23A probably benign Het
Tbl1xr1 C A 3: 22,258,141 (GRCm39) H467Q probably damaging Het
Tmem131l A G 3: 83,820,587 (GRCm39) S1222P possibly damaging Het
Tmem43 G T 6: 91,455,759 (GRCm39) Q123H probably damaging Het
Tmem43 T A 6: 91,463,862 (GRCm39) I379N possibly damaging Het
Trim43c A T 9: 88,727,003 (GRCm39) I277F possibly damaging Het
Ttn A G 2: 76,703,211 (GRCm39) probably benign Het
Vmn1r75 T A 7: 11,615,003 (GRCm39) V245D probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vps53 A T 11: 75,967,881 (GRCm39) M414K probably benign Het
Wrn T G 8: 33,809,248 (GRCm39) L249F probably benign Het
Zc3h13 TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT TGATGTCCGGGATGTCCGGGATGTCCGGGATGT 14: 75,560,998 (GRCm39) probably benign Het
Zfp454 T C 11: 50,764,950 (GRCm39) N161D probably benign Het
Zfp619 G A 7: 39,183,586 (GRCm39) G60R probably benign Het
Zfp623 T A 15: 75,820,308 (GRCm39) H421Q probably damaging Het
Zfp827 A G 8: 79,916,606 (GRCm39) probably benign 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
R5385:Adam23 UTSW 1 63,590,970 (GRCm39) missense possibly damaging 0.74
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
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'- GAGCCTCATTTCTAACCTGTGATAG -3'
(R):5'- GCATGTAAGATGTGGGGACC -3'

Sequencing Primer
(F):5'- gcaagggatggggattat -3'
(R):5'- CCTGAAGTAATAGTTTGGTAGAGAGC -3'
Posted On 2018-06-06