Incidental Mutation 'R1943:Adam23'
ID 216339
Institutional Source Beutler Lab
Gene Symbol Adam23
Ensembl Gene ENSMUSG00000025964
Gene Name a disintegrin and metallopeptidase domain 23
Synonyms MDC3
MMRRC Submission 039961-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1943 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 63484880-63635263 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 63516916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087374] [ENSMUST00000087374] [ENSMUST00000114103] [ENSMUST00000114103] [ENSMUST00000114107] [ENSMUST00000114107]
AlphaFold Q9R1V7
Predicted Effect probably null
Transcript: ENSMUST00000087374
SMART Domains Protein: ENSMUSP00000084633
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
Predicted Effect probably null
Transcript: ENSMUST00000087374
SMART Domains Protein: ENSMUSP00000084633
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
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 null
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 null
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 null
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
Predicted Effect probably null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146403
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190658
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,645,506 (GRCm39) N1017S possibly damaging Het
Abca8a T C 11: 109,960,689 (GRCm39) I610V probably benign Het
Acp5 C T 9: 22,040,900 (GRCm39) V108M probably damaging Het
Adam34 T A 8: 44,103,864 (GRCm39) T594S possibly damaging Het
Adam34 A T 8: 44,104,852 (GRCm39) N264K probably damaging Het
Arsa G A 15: 89,357,742 (GRCm39) T407I probably damaging Het
Bicc1 A G 10: 70,995,353 (GRCm39) S32P probably damaging Het
Cacna1i T A 15: 80,279,245 (GRCm39) D1995E probably benign Het
Cemip2 G A 19: 21,825,404 (GRCm39) probably null Het
Chst15 A T 7: 131,864,579 (GRCm39) probably null Het
Cntnap4 T A 8: 113,542,128 (GRCm39) F754I probably benign Het
Cpz C T 5: 35,669,772 (GRCm39) E302K probably damaging Het
Daw1 A T 1: 83,186,987 (GRCm39) I371F possibly damaging Het
Dennd1b C A 1: 139,096,690 (GRCm39) probably benign Het
Dhtkd1 T G 2: 5,937,293 (GRCm39) Q73P probably benign Het
Dmgdh T C 13: 93,847,878 (GRCm39) I525T probably benign Het
Dst C A 1: 34,267,450 (GRCm39) T4964K possibly damaging Het
Ercc3 A G 18: 32,379,663 (GRCm39) Y290C probably damaging Het
Fh1 C T 1: 175,437,344 (GRCm39) V252I probably benign Het
Gm13199 C T 2: 5,867,517 (GRCm39) probably benign Het
Il1rn T C 2: 24,238,611 (GRCm39) S82P possibly damaging Het
Lama4 T C 10: 38,973,134 (GRCm39) V1567A possibly damaging Het
Lamtor4 A G 5: 138,254,054 (GRCm39) probably null Het
Llgl1 A G 11: 60,596,842 (GRCm39) N148D probably benign Het
Lmo7 G T 14: 102,139,738 (GRCm39) G774V probably damaging Het
Luzp2 A T 7: 54,914,050 (GRCm39) K293M possibly damaging Het
Mknk1 T C 4: 115,720,223 (GRCm39) V83A probably damaging Het
Mug2 T C 6: 122,056,598 (GRCm39) V1181A probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Or1ad8 A G 11: 50,898,502 (GRCm39) I234M probably benign Het
Or2aj4 A T 16: 19,385,187 (GRCm39) W149R probably benign Het
Osbpl3 A G 6: 50,297,054 (GRCm39) I548T probably benign Het
Parp14 A G 16: 35,656,499 (GRCm39) Y1676H probably damaging Het
Phtf1 A T 3: 103,901,198 (GRCm39) K416* probably null Het
Pmp2 T C 3: 10,247,570 (GRCm39) T40A probably benign Het
Ptpra T C 2: 130,386,024 (GRCm39) M541T probably damaging Het
Rapgef6 A G 11: 54,548,089 (GRCm39) I753V possibly damaging Het
Rdh14 T C 12: 10,441,162 (GRCm39) V108A probably benign Het
Rnf38 A T 4: 44,138,748 (GRCm39) H248Q probably damaging Het
Rsph6a A C 7: 18,808,001 (GRCm39) Y388S probably damaging Het
Ryr2 T C 13: 11,746,609 (GRCm39) D1981G probably benign Het
Sf3a3 A G 4: 124,609,694 (GRCm39) K97E possibly damaging Het
Shisa9 A G 16: 12,085,620 (GRCm39) T394A probably benign Het
Slc43a2 T A 11: 75,436,567 (GRCm39) probably null Het
Slc45a1 A G 4: 150,728,734 (GRCm39) F23S probably benign Het
Slc7a10 T A 7: 34,899,723 (GRCm39) V435E probably benign Het
Snx15 A G 19: 6,178,096 (GRCm39) Y28H probably damaging Het
Spef2 T G 15: 9,663,280 (GRCm39) K834Q possibly damaging Het
Tdpoz2 G T 3: 93,559,230 (GRCm39) Y247* probably null Het
Tedc2 G A 17: 24,436,923 (GRCm39) R271W possibly damaging Het
Tfr2 C A 5: 137,577,183 (GRCm39) H378Q probably benign Het
Tigit T A 16: 43,469,581 (GRCm39) H170L probably benign Het
Tmem62 A T 2: 120,817,107 (GRCm39) Q91L probably benign Het
Tmtc1 G T 6: 148,327,416 (GRCm39) C32* probably null Het
Txndc12 G A 4: 108,713,407 (GRCm39) V90I probably benign Het
Vmn2r93 C A 17: 18,546,063 (GRCm39) T645K probably benign Het
Vmn2r96 C T 17: 18,806,664 (GRCm39) T345I probably benign Het
Vps13d A T 4: 144,882,427 (GRCm39) D1055E probably benign Het
Xirp2 A G 2: 67,342,959 (GRCm39) I1733M probably benign Het
Zfp512b T C 2: 181,230,208 (GRCm39) H516R probably damaging Het
Zfp606 T C 7: 12,227,615 (GRCm39) S521P probably damaging Het
Zfp715 A T 7: 42,949,054 (GRCm39) V302E possibly 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
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
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'- TCACGTGGTGGGTCTTCC -3'
(R):5'- TCAGGGAAGTAAAATAAAGATGCACC -3'

Sequencing Primer
(F):5'- GCATGCCCAGTCCTTTAAAGAGATG -3'
(R):5'- AAGATGCACCTACTATTTAGTCTTCC -3'
Posted On 2014-08-01