Incidental Mutation 'IGL02695:Adam2'
ID 303879
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam2
Ensembl Gene ENSMUSG00000022039
Gene Name a disintegrin and metallopeptidase domain 2
Synonyms fertilin beta, Ph30-beta, Ftnb
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02695
Quality Score
Status
Chromosome 14
Chromosomal Location 66264778-66315182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66287929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 389 (M389K)
Ref Sequence ENSEMBL: ENSMUSP00000022618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022618]
AlphaFold Q60718
Predicted Effect probably benign
Transcript: ENSMUST00000022618
AA Change: M389K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000022618
Gene: ENSMUSG00000022039
AA Change: M389K

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 17 147 2.1e-26 PFAM
Pfam:Reprolysin 184 381 7.1e-73 PFAM
DISIN 398 474 1.21e-27 SMART
ACR 475 612 6.96e-62 SMART
transmembrane domain 687 709 N/A INTRINSIC
low complexity region 721 733 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000089275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225667
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is predominantly expressed in the epididymis, where the encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Male mice lacking the encoded protein are infertile and exhibit multiple defects in reproduction. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are viable, females are fertile, but males have severely reduced fertility. Mutant male sperm are defective in sperm-egg membrane adhesion, sperm-egg fusion, migration from the uterus to theoviduct, and binding to the egg zona pellucida. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 C A 1: 171,080,203 (GRCm39) T252K probably damaging Het
Adgrb2 G A 4: 129,912,625 (GRCm39) G1293D probably damaging Het
Ankfn1 T C 11: 89,282,645 (GRCm39) E1013G probably damaging Het
Ankrd34b C A 13: 92,576,120 (GRCm39) H451N possibly damaging Het
Cd300c2 C T 11: 114,892,379 (GRCm39) probably benign Het
Cntnap3 T G 13: 64,919,946 (GRCm39) Q637P probably benign Het
Cpne6 A T 14: 55,752,037 (GRCm39) I265F probably damaging Het
Dot1l C A 10: 80,613,442 (GRCm39) T18K probably damaging Het
Fam83c T C 2: 155,673,435 (GRCm39) D251G probably benign Het
Fyb1 A G 15: 6,610,402 (GRCm39) K325R probably damaging Het
Gas2l2 T A 11: 83,313,468 (GRCm39) I615F probably damaging Het
Gigyf2 A G 1: 87,344,549 (GRCm39) N494S probably benign Het
Gnaz T C 10: 74,827,974 (GRCm39) probably null Het
Haus5 A T 7: 30,362,702 (GRCm39) L36Q probably damaging Het
Hecw2 C T 1: 53,965,368 (GRCm39) G486D possibly damaging Het
Hmcn2 T C 2: 31,298,985 (GRCm39) F2777S possibly damaging Het
Il1rl1 T C 1: 40,485,718 (GRCm39) S290P possibly damaging Het
Itgam G T 7: 127,685,113 (GRCm39) A409S possibly damaging Het
Kdm5b T A 1: 134,532,223 (GRCm39) M467K possibly damaging Het
Lama2 A C 10: 26,876,771 (GRCm39) V2725G probably benign Het
Lhpp G A 7: 132,252,063 (GRCm39) R234Q probably damaging Het
Maf1 T C 15: 76,236,955 (GRCm39) S65P possibly damaging Het
Mgat5 T A 1: 127,339,868 (GRCm39) H416Q probably damaging Het
Mta2 A G 19: 8,925,728 (GRCm39) T408A probably benign Het
Neb T A 2: 52,145,603 (GRCm39) I2974F probably damaging Het
Neb C T 2: 52,101,608 (GRCm39) probably benign Het
Or1j19 C T 2: 36,677,332 (GRCm39) S265L possibly damaging Het
Or2d4 A G 7: 106,543,870 (GRCm39) S113P possibly damaging Het
Or52p1 A G 7: 104,267,678 (GRCm39) H264R probably damaging Het
Or5w22 C T 2: 87,362,461 (GRCm39) T28I probably benign Het
Pcca T A 14: 122,820,150 (GRCm39) probably benign Het
Prlr T C 15: 10,328,451 (GRCm39) F309L probably benign Het
Slc28a1 A T 7: 80,817,739 (GRCm39) Y536F probably benign Het
Slco1a8 A G 6: 141,933,486 (GRCm39) V433A probably damaging Het
Stab1 T A 14: 30,881,228 (GRCm39) N601Y probably damaging Het
Stil G T 4: 114,873,372 (GRCm39) V332F probably damaging Het
Stk11 A G 10: 79,961,311 (GRCm39) probably null Het
Tmem59 A G 4: 107,050,511 (GRCm39) N147S probably benign Het
Other mutations in Adam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Adam2 APN 14 66,311,498 (GRCm39) critical splice donor site probably null
IGL00980:Adam2 APN 14 66,293,977 (GRCm39) nonsense probably null
IGL01404:Adam2 APN 14 66,314,659 (GRCm39) critical splice donor site probably null
IGL01901:Adam2 APN 14 66,272,678 (GRCm39) splice site probably benign
IGL02687:Adam2 APN 14 66,306,639 (GRCm39) missense probably damaging 1.00
IGL02692:Adam2 APN 14 66,311,536 (GRCm39) missense probably damaging 1.00
IGL02798:Adam2 APN 14 66,277,724 (GRCm39) missense probably damaging 1.00
IGL03217:Adam2 APN 14 66,272,262 (GRCm39) missense possibly damaging 0.85
IGL03256:Adam2 APN 14 66,291,280 (GRCm39) missense probably benign 0.03
aldrin UTSW 14 66,295,086 (GRCm39) missense probably damaging 1.00
armstrong UTSW 14 66,275,006 (GRCm39) missense possibly damaging 0.95
sacher UTSW 14 66,306,007 (GRCm39) missense probably damaging 1.00
zuker UTSW 14 66,297,361 (GRCm39) missense probably benign 0.14
R0092:Adam2 UTSW 14 66,291,336 (GRCm39) missense probably damaging 1.00
R0281:Adam2 UTSW 14 66,275,055 (GRCm39) missense probably benign 0.20
R0636:Adam2 UTSW 14 66,272,265 (GRCm39) missense probably benign 0.03
R0690:Adam2 UTSW 14 66,295,095 (GRCm39) missense probably damaging 1.00
R0727:Adam2 UTSW 14 66,267,180 (GRCm39) missense probably damaging 1.00
R1477:Adam2 UTSW 14 66,315,149 (GRCm39) missense possibly damaging 0.96
R1634:Adam2 UTSW 14 66,295,180 (GRCm39) missense probably damaging 1.00
R1652:Adam2 UTSW 14 66,314,700 (GRCm39) missense probably benign 0.41
R1717:Adam2 UTSW 14 66,306,007 (GRCm39) missense probably damaging 1.00
R1868:Adam2 UTSW 14 66,315,107 (GRCm39) missense probably damaging 0.99
R1915:Adam2 UTSW 14 66,275,006 (GRCm39) missense possibly damaging 0.95
R3748:Adam2 UTSW 14 66,297,361 (GRCm39) missense probably benign 0.14
R3953:Adam2 UTSW 14 66,295,059 (GRCm39) missense probably damaging 1.00
R3954:Adam2 UTSW 14 66,295,059 (GRCm39) missense probably damaging 1.00
R3955:Adam2 UTSW 14 66,295,059 (GRCm39) missense probably damaging 1.00
R3956:Adam2 UTSW 14 66,295,059 (GRCm39) missense probably damaging 1.00
R3957:Adam2 UTSW 14 66,295,059 (GRCm39) missense probably damaging 1.00
R4091:Adam2 UTSW 14 66,267,172 (GRCm39) missense probably damaging 0.97
R5673:Adam2 UTSW 14 66,306,681 (GRCm39) missense probably benign 0.03
R5761:Adam2 UTSW 14 66,283,595 (GRCm39) missense probably damaging 1.00
R6187:Adam2 UTSW 14 66,306,068 (GRCm39) missense possibly damaging 0.89
R6499:Adam2 UTSW 14 66,296,239 (GRCm39) missense probably damaging 1.00
R6730:Adam2 UTSW 14 66,275,025 (GRCm39) missense possibly damaging 0.83
R6829:Adam2 UTSW 14 66,265,446 (GRCm39) critical splice donor site probably null
R7023:Adam2 UTSW 14 66,280,505 (GRCm39) missense probably benign 0.22
R7168:Adam2 UTSW 14 66,296,241 (GRCm39) missense possibly damaging 0.89
R7228:Adam2 UTSW 14 66,291,361 (GRCm39) nonsense probably null
R7293:Adam2 UTSW 14 66,272,634 (GRCm39) missense probably benign 0.29
R7604:Adam2 UTSW 14 66,293,990 (GRCm39) missense probably benign 0.17
R7765:Adam2 UTSW 14 66,297,345 (GRCm39) missense probably damaging 1.00
R8380:Adam2 UTSW 14 66,275,006 (GRCm39) missense probably benign 0.01
R8532:Adam2 UTSW 14 66,293,970 (GRCm39) missense probably damaging 1.00
R8728:Adam2 UTSW 14 66,295,086 (GRCm39) missense probably damaging 1.00
R8744:Adam2 UTSW 14 66,272,165 (GRCm39) critical splice donor site probably null
R9282:Adam2 UTSW 14 66,267,238 (GRCm39) missense probably benign 0.00
R9307:Adam2 UTSW 14 66,287,921 (GRCm39) missense probably damaging 1.00
R9560:Adam2 UTSW 14 66,275,102 (GRCm39) missense probably benign 0.12
R9574:Adam2 UTSW 14 66,275,071 (GRCm39) missense probably benign 0.10
R9608:Adam2 UTSW 14 66,291,279 (GRCm39) missense probably null 0.05
X0061:Adam2 UTSW 14 66,291,354 (GRCm39) missense possibly damaging 0.66
Z1177:Adam2 UTSW 14 66,293,970 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16