Incidental Mutation 'R9640:Adam30'
ID 725903
Institutional Source Beutler Lab
Gene Symbol Adam30
Ensembl Gene ENSMUSG00000043468
Gene Name a disintegrin and metallopeptidase domain 30
Synonyms 4933424D07Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R9640 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 98160630-98164169 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98162304 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 484 (D484E)
Ref Sequence ENSEMBL: ENSMUSP00000060505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050342] [ENSMUST00000198363]
AlphaFold Q811Q3
Predicted Effect probably damaging
Transcript: ENSMUST00000050342
AA Change: D484E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060505
Gene: ENSMUSG00000043468
AA Change: D484E

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Pep_M12B_propep 36 159 5.7e-20 PFAM
low complexity region 176 187 N/A INTRINSIC
Pfam:Reprolysin 202 393 1.1e-31 PFAM
DISIN 407 482 1.6e-32 SMART
ACR 483 625 1.84e-52 SMART
transmembrane domain 690 712 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198363
SMART Domains Protein: ENSMUSP00000142590
Gene: ENSMUSG00000043468

DomainStartEndE-ValueType
low complexity region 48 59 N/A INTRINSIC
Pfam:Reprolysin_5 72 259 2.6e-6 PFAM
Pfam:Reprolysin 74 265 2.1e-29 PFAM
Pfam:Reprolysin_3 101 220 1.1e-4 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A T 9: 22,439,932 I457L possibly damaging Het
A630010A05Rik T C 16: 14,618,725 V214A Het
A830018L16Rik A G 1: 11,950,976 K403R probably damaging Het
Abhd17c A T 7: 84,151,606 L80Q probably damaging Het
Aspm T A 1: 139,480,272 V2299E possibly damaging Het
Atp6v1c1 C T 15: 38,689,137 R281W probably damaging Het
Bclaf1 T C 10: 20,325,807 probably null Het
Ccdc50 T C 16: 27,406,711 V58A probably damaging Het
Cep162 A G 9: 87,244,299 S187P probably benign Het
Clip4 C T 17: 71,856,269 T612M possibly damaging Het
Corin C T 5: 72,435,254 V267I probably benign Het
Cyp2c37 T A 19: 40,011,736 I434K probably benign Het
Ddx43 T G 9: 78,396,107 D76E probably benign Het
Dusp5 A G 19: 53,537,620 E231G probably damaging Het
Fam114a1 G A 5: 65,009,051 V242I probably damaging Het
Frem1 T A 4: 82,913,659 R1973S probably benign Het
Gas2l3 A T 10: 89,430,912 D55E probably damaging Het
Gm436 T A 4: 144,686,239 R44W possibly damaging Het
Grwd1 T C 7: 45,827,879 I195V probably benign Het
H2-M1 G T 17: 36,672,139 T20K probably benign Het
H2-Q2 T G 17: 35,343,230 L151R probably damaging Het
Hbegf T C 18: 36,507,590 Y138C probably damaging Het
Hectd1 C A 12: 51,748,414 E2411* probably null Het
Igkv11-125 T A 6: 67,913,799 S34T possibly damaging Het
Jam2 A T 16: 84,813,072 T191S probably benign Het
Kcnh8 T C 17: 52,878,061 I457T probably damaging Het
Khk A G 5: 30,921,959 D15G probably damaging Het
Lrba T A 3: 86,619,568 Y2244* probably null Het
Lrp1b T C 2: 41,188,917 N1841S Het
Lrp4 A G 2: 91,485,951 T805A probably benign Het
Lrp6 C T 6: 134,464,451 R1184Q probably damaging Het
Map3k1 A T 13: 111,764,165 L442* probably null Het
Mapk8ip3 T C 17: 24,936,673 N61S possibly damaging Het
Mdn1 T A 4: 32,754,539 V4685E probably damaging Het
Mib2 T C 4: 155,660,868 E134G possibly damaging Het
Mtss1l T C 8: 110,737,943 V403A probably benign Het
Ndst4 C A 3: 125,438,547 T255K probably damaging Het
Olfr1357 G C 10: 78,612,477 L55V probably damaging Het
Olfr166 A T 16: 19,487,011 M58L probably damaging Het
Olfr291 G A 7: 84,856,906 C181Y probably damaging Het
Olfr44 A G 9: 39,485,100 L51P probably damaging Het
Pak1 T A 7: 97,866,148 D126E probably benign Het
Rgl1 T C 1: 152,521,391 T675A probably damaging Het
Rgs1 T C 1: 144,245,378 D185G probably damaging Het
Rnase2a G A 14: 51,255,660 R83C probably damaging Het
Sfmbt2 A G 2: 10,579,183 T784A probably damaging Het
Slc6a21 A T 7: 45,287,765 T272S Het
Sorcs2 G T 5: 36,065,421 S330* probably null Het
Spdef G T 17: 27,717,209 H253Q Het
Tas2r144 A G 6: 42,215,494 E56G probably benign Het
Trim66 A G 7: 109,475,618 C479R probably damaging Het
Ttc36 A T 9: 44,802,737 L28Q probably benign Het
Ugt1a5 T C 1: 88,166,376 S109P possibly damaging Het
Vamp5 G A 6: 72,370,293 probably benign Het
Wwox A G 8: 114,439,800 D10G possibly damaging Het
Zfp40 T C 17: 23,175,519 Y698C probably damaging Het
Zfp62 A G 11: 49,215,631 D183G probably benign Het
Zfp932 T C 5: 110,009,198 V254A probably benign Het
Zfp943 T A 17: 21,990,918 L57H probably damaging Het
Other mutations in Adam30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Adam30 APN 3 98162170 missense probably benign 0.01
IGL01630:Adam30 APN 3 98161855 missense possibly damaging 0.83
IGL01825:Adam30 APN 3 98161901 missense probably damaging 0.96
IGL02033:Adam30 APN 3 98161471 missense probably benign 0.13
IGL03157:Adam30 APN 3 98162296 missense possibly damaging 0.85
IGL03330:Adam30 APN 3 98162456 missense probably damaging 1.00
R0512:Adam30 UTSW 3 98162125 missense probably damaging 1.00
R1082:Adam30 UTSW 3 98162290 missense probably benign 0.30
R1173:Adam30 UTSW 3 98162906 missense probably benign 0.07
R1463:Adam30 UTSW 3 98162525 missense probably damaging 1.00
R1771:Adam30 UTSW 3 98161519 missense possibly damaging 0.94
R1862:Adam30 UTSW 3 98162113 nonsense probably null
R3442:Adam30 UTSW 3 98162570 missense probably benign 0.35
R4125:Adam30 UTSW 3 98161363 missense probably damaging 1.00
R4714:Adam30 UTSW 3 98162854 missense probably damaging 1.00
R4816:Adam30 UTSW 3 98162745 missense possibly damaging 0.68
R5447:Adam30 UTSW 3 98161343 missense probably benign 0.09
R5958:Adam30 UTSW 3 98161964 missense probably damaging 1.00
R6175:Adam30 UTSW 3 98162950 missense probably damaging 1.00
R6220:Adam30 UTSW 3 98161309 missense probably damaging 0.98
R6338:Adam30 UTSW 3 98161541 missense probably damaging 1.00
R6365:Adam30 UTSW 3 98161034 missense probably damaging 0.99
R6998:Adam30 UTSW 3 98162710 missense probably benign 0.03
R7086:Adam30 UTSW 3 98161319 missense probably damaging 1.00
R7290:Adam30 UTSW 3 98162941 missense probably benign 0.00
R7340:Adam30 UTSW 3 98162321 missense probably benign 0.14
R8181:Adam30 UTSW 3 98162975 missense probably benign
R8725:Adam30 UTSW 3 98163032 missense possibly damaging 0.96
R8727:Adam30 UTSW 3 98163032 missense possibly damaging 0.96
R8913:Adam30 UTSW 3 98161264 missense possibly damaging 0.68
R8977:Adam30 UTSW 3 98162062 missense probably damaging 0.98
R9008:Adam30 UTSW 3 98162718 nonsense probably null
R9126:Adam30 UTSW 3 98160991 missense probably benign 0.00
R9181:Adam30 UTSW 3 98162878 missense probably benign 0.05
R9274:Adam30 UTSW 3 98161951 missense probably benign 0.06
R9338:Adam30 UTSW 3 98162813 missense probably damaging 1.00
R9636:Adam30 UTSW 3 98160996 missense probably benign 0.06
R9651:Adam30 UTSW 3 98162620 missense possibly damaging 0.92
Z1176:Adam30 UTSW 3 98162360 missense possibly damaging 0.92
Z1177:Adam30 UTSW 3 98160979 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGGGCCGGACTGTAAATG -3'
(R):5'- TACACTGTAGCCTGCCACAG -3'

Sequencing Primer
(F):5'- TGGAAAGAAGGTGTCAACTGCTC -3'
(R):5'- CTATGACACCTTGTATATCGGGTAGC -3'
Posted On 2022-09-12