Incidental Mutation 'R1813:Adam23'
ID 202521
Institutional Source Beutler Lab
Gene Symbol Adam23
Ensembl Gene ENSMUSG00000025964
Gene Name a disintegrin and metallopeptidase domain 23
Synonyms MDC3
MMRRC Submission 039841-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1813 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 63484880-63635263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63584731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 380 (A380T)
Ref Sequence ENSEMBL: ENSMUSP00000109742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087374] [ENSMUST00000114103] [ENSMUST00000114107]
AlphaFold Q9R1V7
Predicted Effect probably benign
Transcript: ENSMUST00000087374
AA Change: A380T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964
AA Change: A380T

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 benign
Transcript: ENSMUST00000114103
AA Change: A380T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964
AA Change: A380T

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
AA Change: A380T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964
AA Change: A380T

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: 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
Meta Mutation Damage Score 0.2564 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.8%
  • 20x: 90.3%
Validation Efficiency 96% (79/82)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,543,236 (GRCm39) N595Y probably benign Het
Abca6 A G 11: 110,124,671 (GRCm39) probably benign Het
Abo C A 2: 26,733,609 (GRCm39) D199Y probably damaging Het
Acvr1c A C 2: 58,170,306 (GRCm39) V277G probably damaging Het
Art2b A G 7: 101,229,236 (GRCm39) V221A probably benign Het
Bcam A G 7: 19,500,640 (GRCm39) S153P probably damaging Het
Brip1 T C 11: 86,077,906 (GRCm39) H174R possibly damaging Het
Ccdc186 T C 19: 56,788,601 (GRCm39) D536G probably benign Het
Cd109 A G 9: 78,524,287 (GRCm39) N67S probably benign Het
Cd8a G T 6: 71,350,947 (GRCm39) M137I possibly damaging Het
Ces2g T C 8: 105,693,569 (GRCm39) F417L probably benign Het
Clec2g A G 6: 128,925,660 (GRCm39) N23S unknown Het
Cntnap2 T C 6: 46,507,567 (GRCm39) Y61C probably damaging Het
Cog3 T A 14: 75,979,784 (GRCm39) E182D probably benign Het
Dbpht2 A G 12: 74,342,624 (GRCm39) noncoding transcript Het
Dock4 A T 12: 40,686,227 (GRCm39) N154I probably damaging Het
Dysf T G 6: 84,128,906 (GRCm39) V1422G possibly damaging Het
E2f3 T C 13: 30,104,159 (GRCm39) D140G probably damaging Het
Efcab3 A G 11: 104,611,514 (GRCm39) K452R probably benign Het
Epb41l2 T A 10: 25,317,466 (GRCm39) probably null Het
Epha2 A G 4: 141,035,857 (GRCm39) K98E possibly damaging Het
Esyt1 T C 10: 128,355,487 (GRCm39) D444G probably benign Het
Fam163a T C 1: 155,955,787 (GRCm39) T2A probably damaging Het
Foxp2 A T 6: 15,379,767 (GRCm39) probably benign Het
Gcm2 T C 13: 41,259,367 (GRCm39) H34R probably benign Het
Gipr A G 7: 18,897,996 (GRCm39) S79P probably benign Het
Gli3 T C 13: 15,823,276 (GRCm39) S333P probably damaging Het
Gm10717 T G 9: 3,026,317 (GRCm39) F205C probably damaging Het
Gzmk A G 13: 113,309,427 (GRCm39) S208P probably damaging Het
Htra2 G T 6: 83,028,583 (GRCm39) A318D probably damaging Het
Itpkc T C 7: 26,907,805 (GRCm39) D633G probably damaging Het
Lama1 G A 17: 68,098,218 (GRCm39) R1805H probably benign Het
Lama4 T A 10: 38,909,121 (GRCm39) probably benign Het
Lama4 T C 10: 38,936,182 (GRCm39) V619A probably damaging Het
Notch3 T C 17: 32,362,402 (GRCm39) T1408A probably benign Het
Nwd2 A G 5: 63,962,753 (GRCm39) D779G probably benign Het
Nxpe4 A G 9: 48,304,678 (GRCm39) Y255C possibly damaging Het
Obox6 A T 7: 15,568,770 (GRCm39) H35Q possibly damaging Het
Or2ab1 A G 11: 58,489,133 (GRCm39) I304V probably damaging Het
Or8b41 T A 9: 38,055,025 (GRCm39) I198N possibly damaging Het
Pkig T A 2: 163,563,147 (GRCm39) I26N possibly damaging Het
Plekhm2 C T 4: 141,369,750 (GRCm39) V82M possibly damaging Het
Plppr2 G A 9: 21,859,220 (GRCm39) A446T probably damaging Het
Psme4 T A 11: 30,754,353 (GRCm39) F203L probably benign Het
Sh3bp1 A G 15: 78,787,880 (GRCm39) K137E probably damaging Het
Shisa5 T A 9: 108,885,108 (GRCm39) I126N probably damaging Het
Slc11a1 T C 1: 74,414,931 (GRCm39) L21P probably benign Het
Slc35f1 C T 10: 52,809,291 (GRCm39) P93S probably damaging Het
Slc4a4 A G 5: 89,194,167 (GRCm39) T172A probably damaging Het
Slc9c1 A T 16: 45,393,710 (GRCm39) Y551F probably benign Het
Spata31 T C 13: 65,069,612 (GRCm39) S587P probably benign Het
Syna C A 5: 134,588,006 (GRCm39) M314I probably benign Het
Taf5l A G 8: 124,730,152 (GRCm39) L144P probably damaging Het
Tbccd1 T C 16: 22,641,271 (GRCm39) T369A probably benign Het
Tnfrsf11b A T 15: 54,119,493 (GRCm39) C160* probably null Het
Trim45 A G 3: 100,830,283 (GRCm39) N19S probably benign Het
Uba2 A G 7: 33,850,455 (GRCm39) F364S probably damaging Het
Unc50 T A 1: 37,476,323 (GRCm39) L161Q probably damaging Het
Uso1 A T 5: 92,348,992 (GRCm39) probably null Het
Usp25 A G 16: 76,911,838 (GRCm39) I956V probably benign Het
Utf1 C A 7: 139,524,213 (GRCm39) L143I probably damaging Het
Vmn1r158 C T 7: 22,490,143 (GRCm39) C22Y probably damaging Het
Vmn1r36 T A 6: 66,693,756 (GRCm39) M40L probably benign Het
Vmn2r43 A G 7: 8,258,055 (GRCm39) V386A possibly damaging Het
Vps9d1 C A 8: 123,973,778 (GRCm39) R335L probably damaging Het
Wasf1 T A 10: 40,802,585 (GRCm39) V80D probably damaging Het
Wdr72 G A 9: 74,183,298 (GRCm39) V1077I possibly damaging Het
Wnt8a A G 18: 34,675,422 (GRCm39) M1V probably null Het
Zbtb26 A G 2: 37,326,347 (GRCm39) S230P possibly damaging Het
Zfp335 A G 2: 164,734,525 (GRCm39) V1247A probably damaging Het
Zfp429 T C 13: 67,538,505 (GRCm39) N313S possibly damaging Het
Zfp74 A T 7: 29,634,569 (GRCm39) C380S probably damaging Het
Zfyve21 G A 12: 111,791,328 (GRCm39) E134K probably damaging Het
Zmynd11 T C 13: 9,739,616 (GRCm39) T474A 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
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
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'- GTGCATGTTTGACCCAGTG -3'
(R):5'- AGTAGAGCTGAAGGCCACTG -3'

Sequencing Primer
(F):5'- ATGTTTGACCCAGTGTTTGCC -3'
(R):5'- GCTGAAGGCCACTGAACCAAG -3'
Posted On 2014-06-23