Incidental Mutation 'R9338:Adam30'
ID 707291
Institutional Source Beutler Lab
Gene Symbol Adam30
Ensembl Gene ENSMUSG00000043468
Gene Name a disintegrin and metallopeptidase domain 30
Synonyms 4933424D07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R9338 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 98067950-98071485 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98070129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 654 (G654D)
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: G654D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000060505
Gene: ENSMUSG00000043468
AA Change: G654D

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: 98.8%
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
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Cct3 T C 3: 88,225,706 (GRCm39) V343A probably benign Het
Col11a2 A G 17: 34,266,204 (GRCm39) T358A unknown Het
Cox6a2 T C 7: 127,804,914 (GRCm39) Y94C probably damaging Het
Cubn T A 2: 13,386,703 (GRCm39) I1521F probably damaging Het
Dclk3 C A 9: 111,268,373 (GRCm39) A14E unknown Het
Dlgap2 T C 8: 14,229,683 (GRCm39) probably null Het
Dop1b C A 16: 93,600,448 (GRCm39) Q2042K probably damaging Het
Ech1 A G 7: 28,525,427 (GRCm39) S61G probably null Het
Ext2 T A 2: 93,526,603 (GRCm39) N678Y probably damaging Het
Fgfr2 G T 7: 129,863,561 (GRCm39) C28* probably null Het
Gon4l C A 3: 88,809,019 (GRCm39) D1754E probably benign Het
Hivep2 T A 10: 14,004,693 (GRCm39) C430* probably null Het
Htr7 C T 19: 35,941,780 (GRCm39) probably null Het
Idh3b A T 2: 130,122,392 (GRCm39) M331K probably damaging Het
Ighv2-7 A T 12: 113,771,118 (GRCm39) F56I probably benign Het
Inpp5k C T 11: 75,536,411 (GRCm39) H330Y probably damaging Het
Kif26b T C 1: 178,744,058 (GRCm39) Y1385H probably damaging Het
Mad1l1 A G 5: 140,074,561 (GRCm39) L543P probably damaging Het
Mdn1 A T 4: 32,666,536 (GRCm39) H158L probably benign Het
Mpp2 T A 11: 101,951,249 (GRCm39) T511S probably benign Het
Msantd5f6 T C 4: 73,320,245 (GRCm39) E178G possibly damaging Het
Msh4 T C 3: 153,573,444 (GRCm39) I737V possibly damaging Het
Myo15b T C 11: 115,762,238 (GRCm39) L1186P Het
Nckap1l A G 15: 103,379,991 (GRCm39) T346A probably benign Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Npy5r T C 8: 67,134,658 (GRCm39) N45S probably benign Het
Or6c202 T C 10: 128,996,610 (GRCm39) N81S probably benign Het
Pde6a G A 18: 61,354,109 (GRCm39) A145T probably damaging Het
Pfkp A C 13: 6,634,724 (GRCm39) S678A probably damaging Het
Phxr2 A G 10: 98,962,043 (GRCm39) probably benign Het
Pi4ka C A 16: 17,135,227 (GRCm39) L942F Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pla2g4e T A 2: 120,019,914 (GRCm39) T179S probably benign Het
Popdc2 G A 16: 38,194,509 (GRCm39) C310Y probably benign Het
Ppip5k1 C T 2: 121,153,827 (GRCm39) R113Q Het
Prmt7 C T 8: 106,961,665 (GRCm39) R193C unknown Het
Prph G C 15: 98,955,359 (GRCm39) R442P probably damaging Het
Prrc2b A G 2: 32,098,779 (GRCm39) Y697C probably damaging Het
Ptprm T A 17: 67,069,143 (GRCm39) R962S probably damaging Het
Raph1 A G 1: 60,529,300 (GRCm39) S654P unknown Het
Reln A G 5: 22,202,937 (GRCm39) F1288L probably damaging Het
Rhot1 T A 11: 80,145,568 (GRCm39) I553N probably benign Het
Rnf168 T C 16: 32,110,801 (GRCm39) probably null Het
Slamf6 T A 1: 171,747,157 (GRCm39) probably benign Het
Srgap1 CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC 10: 121,689,458 (GRCm39) probably benign Het
Taf4b C T 18: 14,954,555 (GRCm39) P544S probably benign Het
Tbc1d24 A G 17: 24,427,377 (GRCm39) V195A probably benign Het
Tomm70a A G 16: 56,942,399 (GRCm39) M59V probably benign Het
Trip12 A G 1: 84,727,019 (GRCm39) S1184P probably damaging Het
Trrap A G 5: 144,727,925 (GRCm39) S549G probably benign Het
Unc5d T A 8: 29,709,471 (GRCm39) probably benign Het
Ush2a G A 1: 188,308,489 (GRCm39) probably null Het
Usp45 T C 4: 21,784,755 (GRCm39) V147A probably damaging Het
Vmn2r77 T A 7: 86,460,994 (GRCm39) N773K probably damaging Het
Vps13c A T 9: 67,858,977 (GRCm39) N2809I probably damaging Het
Yeats2 T A 16: 20,032,078 (GRCm39) S984R possibly damaging Het
Yeats2 T A 16: 20,041,533 (GRCm39) L1141Q probably damaging Het
Zfp58 T A 13: 67,639,394 (GRCm39) T366S probably benign Het
Other mutations in Adam30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Adam30 APN 3 98,069,486 (GRCm39) missense probably benign 0.01
IGL01630:Adam30 APN 3 98,069,171 (GRCm39) missense possibly damaging 0.83
IGL01825:Adam30 APN 3 98,069,217 (GRCm39) missense probably damaging 0.96
IGL02033:Adam30 APN 3 98,068,787 (GRCm39) missense probably benign 0.13
IGL03157:Adam30 APN 3 98,069,612 (GRCm39) missense possibly damaging 0.85
IGL03330:Adam30 APN 3 98,069,772 (GRCm39) missense probably damaging 1.00
R0512:Adam30 UTSW 3 98,069,441 (GRCm39) missense probably damaging 1.00
R1082:Adam30 UTSW 3 98,069,606 (GRCm39) missense probably benign 0.30
R1173:Adam30 UTSW 3 98,070,222 (GRCm39) missense probably benign 0.07
R1463:Adam30 UTSW 3 98,069,841 (GRCm39) missense probably damaging 1.00
R1771:Adam30 UTSW 3 98,068,835 (GRCm39) missense possibly damaging 0.94
R1862:Adam30 UTSW 3 98,069,429 (GRCm39) nonsense probably null
R3442:Adam30 UTSW 3 98,069,886 (GRCm39) missense probably benign 0.35
R4125:Adam30 UTSW 3 98,068,679 (GRCm39) missense probably damaging 1.00
R4714:Adam30 UTSW 3 98,070,170 (GRCm39) missense probably damaging 1.00
R4816:Adam30 UTSW 3 98,070,061 (GRCm39) missense possibly damaging 0.68
R5447:Adam30 UTSW 3 98,068,659 (GRCm39) missense probably benign 0.09
R5958:Adam30 UTSW 3 98,069,280 (GRCm39) missense probably damaging 1.00
R6175:Adam30 UTSW 3 98,070,266 (GRCm39) missense probably damaging 1.00
R6220:Adam30 UTSW 3 98,068,625 (GRCm39) missense probably damaging 0.98
R6338:Adam30 UTSW 3 98,068,857 (GRCm39) missense probably damaging 1.00
R6365:Adam30 UTSW 3 98,068,350 (GRCm39) missense probably damaging 0.99
R6998:Adam30 UTSW 3 98,070,026 (GRCm39) missense probably benign 0.03
R7086:Adam30 UTSW 3 98,068,635 (GRCm39) missense probably damaging 1.00
R7290:Adam30 UTSW 3 98,070,257 (GRCm39) missense probably benign 0.00
R7340:Adam30 UTSW 3 98,069,637 (GRCm39) missense probably benign 0.14
R8181:Adam30 UTSW 3 98,070,291 (GRCm39) missense probably benign
R8725:Adam30 UTSW 3 98,070,348 (GRCm39) missense possibly damaging 0.96
R8727:Adam30 UTSW 3 98,070,348 (GRCm39) missense possibly damaging 0.96
R8913:Adam30 UTSW 3 98,068,580 (GRCm39) missense possibly damaging 0.68
R8977:Adam30 UTSW 3 98,069,378 (GRCm39) missense probably damaging 0.98
R9008:Adam30 UTSW 3 98,070,034 (GRCm39) nonsense probably null
R9126:Adam30 UTSW 3 98,068,307 (GRCm39) missense probably benign 0.00
R9181:Adam30 UTSW 3 98,070,194 (GRCm39) missense probably benign 0.05
R9274:Adam30 UTSW 3 98,069,267 (GRCm39) missense probably benign 0.06
R9636:Adam30 UTSW 3 98,068,312 (GRCm39) missense probably benign 0.06
R9640:Adam30 UTSW 3 98,069,620 (GRCm39) missense probably damaging 1.00
R9651:Adam30 UTSW 3 98,069,936 (GRCm39) missense possibly damaging 0.92
Z1176:Adam30 UTSW 3 98,069,676 (GRCm39) missense possibly damaging 0.92
Z1177:Adam30 UTSW 3 98,068,295 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGGCACAAGCTATCATGG -3'
(R):5'- AGATTACGGCGGCGATTACG -3'

Sequencing Primer
(F):5'- GGCACAAGCTATCATGGAACCATG -3'
(R):5'- GCGGCGATTACGAAACAAATTTC -3'
Posted On 2022-04-18