Incidental Mutation 'R8890:Adam23'
ID 677604
Institutional Source Beutler Lab
Gene Symbol Adam23
Ensembl Gene ENSMUSG00000025964
Gene Name a disintegrin and metallopeptidase domain 23
Synonyms MDC3
MMRRC Submission 068694-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8890 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 63484880-63635263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63624524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 784 (G784D)
Ref Sequence ENSEMBL: ENSMUSP00000084633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087374] [ENSMUST00000114103] [ENSMUST00000114107]
AlphaFold Q9R1V7
Predicted Effect possibly damaging
Transcript: ENSMUST00000087374
AA Change: G784D

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964
AA Change: G784D

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 probably benign
Transcript: ENSMUST00000114103
SMART Domains Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964

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 benign
Transcript: ENSMUST00000114107
SMART Domains Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik G A X: 69,437,994 (GRCm39) R100W possibly damaging Het
Acrv1 A T 9: 36,604,608 (GRCm39) M1L probably benign Het
Astl A T 2: 127,198,479 (GRCm39) M365L probably benign Het
C1ql3 T A 2: 13,015,184 (GRCm39) T159S Het
Ccser2 T G 14: 36,601,352 (GRCm39) D344A probably damaging Het
Cox11 A C 11: 90,534,599 (GRCm39) I214L probably damaging Het
Cramp1 C T 17: 25,202,114 (GRCm39) G456D probably damaging Het
Ctsq T A 13: 61,185,502 (GRCm39) Y213F probably damaging Het
Cyp2j5 T A 4: 96,522,555 (GRCm39) I340F probably damaging Het
Efcab6 A G 15: 83,829,349 (GRCm39) F664L probably damaging Het
Eif3j2 A G 18: 43,610,276 (GRCm39) L179P probably benign Het
Fhad1 A T 4: 141,656,902 (GRCm39) M84K probably benign Het
Gabbr1 T C 17: 37,358,436 (GRCm39) V58A probably benign Het
Gabra1 T A 11: 42,024,553 (GRCm39) Y374F probably benign Het
Glt28d2 A T 3: 85,779,359 (GRCm39) V38D possibly damaging Het
Grid2 A T 6: 63,233,923 (GRCm39) H28L probably benign Het
Hat1 G A 2: 71,269,137 (GRCm39) R355K probably damaging Het
Hivep3 T C 4: 119,953,657 (GRCm39) Y658H possibly damaging Het
Hsh2d T C 8: 72,951,690 (GRCm39) F108S probably damaging Het
Il17rc G T 6: 113,456,031 (GRCm39) C292F probably damaging Het
Il31ra T C 13: 112,660,861 (GRCm39) D576G possibly damaging Het
Iqsec3 T C 6: 121,389,515 (GRCm39) D652G probably damaging Het
Kdm5a T A 6: 120,366,624 (GRCm39) S420R probably damaging Het
Klhdc7b A G 15: 89,272,888 (GRCm39) T599A probably benign Het
Lrrc8c A T 5: 105,754,954 (GRCm39) E243V probably damaging Het
Mecom A G 3: 30,006,882 (GRCm39) S714P probably damaging Het
Mindy4 T C 6: 55,255,223 (GRCm39) L567P probably benign Het
Mipep G T 14: 61,109,506 (GRCm39) A628S probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mterf3 C T 13: 67,064,676 (GRCm39) probably null Het
Myh15 C A 16: 48,959,130 (GRCm39) L1001I probably damaging Het
Myom3 G A 4: 135,541,565 (GRCm39) M1385I probably benign Het
Nbea T C 3: 55,926,784 (GRCm39) probably benign Het
Nphs1 C T 7: 30,162,080 (GRCm39) R270W probably damaging Het
Nwd1 T A 8: 73,438,484 (GRCm39) S1552T probably benign Het
Or10ag60 A T 2: 87,438,412 (GRCm39) I227F probably damaging Het
Or10j5 G A 1: 172,785,045 (GRCm39) V228M probably benign Het
Or52ae9 G T 7: 103,389,675 (GRCm39) F257L probably damaging Het
Or52r1 A T 7: 102,536,699 (GRCm39) Y220* probably null Het
Pcdh7 A T 5: 57,876,717 (GRCm39) I91F probably damaging Het
Pheta2 G T 15: 82,227,618 (GRCm39) V46F probably damaging Het
Piezo1 T C 8: 123,216,330 (GRCm39) R1394G Het
Pramel28 G T 4: 143,691,494 (GRCm39) Q410K probably benign Het
Psmd1 G A 1: 86,012,914 (GRCm39) R361Q probably damaging Het
Ralb G A 1: 119,411,246 (GRCm39) T31M probably damaging Het
Rassf4 T A 6: 116,617,305 (GRCm39) K233N probably damaging Het
Rif1 T C 2: 51,988,875 (GRCm39) F756S probably damaging Het
Rpgrip1 G A 14: 52,382,501 (GRCm39) D556N possibly damaging Het
Scai T C 2: 39,040,400 (GRCm39) probably benign Het
Scfd1 A G 12: 51,474,678 (GRCm39) T478A probably benign Het
Spag17 T A 3: 99,911,994 (GRCm39) I288N possibly damaging Het
Sult1e1 C T 5: 87,727,719 (GRCm39) V188I probably benign Het
Tmco1 A G 1: 167,143,814 (GRCm39) R82G Het
Tmem109 T C 19: 10,849,235 (GRCm39) S207G probably benign Het
Vmn2r115 A G 17: 23,578,497 (GRCm39) T657A probably damaging Het
Whamm A G 7: 81,243,640 (GRCm39) T621A probably benign Het
Zbtb40 A G 4: 136,725,897 (GRCm39) L554P probably damaging Het
Zfp131 A T 13: 120,244,338 (GRCm39) M114K probably damaging Het
Zfp532 C T 18: 65,757,404 (GRCm39) P446S 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
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
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
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'- CAACCAGAGATGGACGTGTC -3'
(R):5'- CCACTTCTGAGTAAAAGCGC -3'

Sequencing Primer
(F):5'- CGTGTCTGACCTGGGATAAAGC -3'
(R):5'- AAAGTCTCGTAGCAGGAACTC -3'
Posted On 2021-08-02