Incidental Mutation 'R0636:Adam2'
ID 56710
Institutional Source Beutler Lab
Gene Symbol Adam2
Ensembl Gene ENSMUSG00000022039
Gene Name a disintegrin and metallopeptidase domain 2
Synonyms fertilin beta, Ph30-beta, Ftnb
MMRRC Submission 038825-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0636 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 66264778-66315182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 66272265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 639 (D639A)
Ref Sequence ENSEMBL: ENSMUSP00000022618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022618]
AlphaFold Q60718
Predicted Effect probably benign
Transcript: ENSMUST00000022618
AA Change: D639A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000022618
Gene: ENSMUSG00000022039
AA Change: D639A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 96% (74/77)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,088,414 (GRCm39) Y264C probably damaging Het
8030423J24Rik T C 13: 71,032,344 (GRCm39) F139L unknown Het
Aco1 A G 4: 40,175,697 (GRCm39) E146G probably damaging Het
Adh4 G T 3: 138,133,835 (GRCm39) R315L probably damaging Het
Adprhl1 T C 8: 13,298,702 (GRCm39) D76G probably damaging Het
Akip1 T C 7: 109,306,726 (GRCm39) probably benign Het
Ap3d1 T A 10: 80,555,216 (GRCm39) K370* probably null Het
Arfgef1 C A 1: 10,270,076 (GRCm39) V358L probably benign Het
Arpp21 A T 9: 112,012,566 (GRCm39) D85E probably benign Het
Azi2 A T 9: 117,891,125 (GRCm39) L383F probably benign Het
Bpgm T A 6: 34,481,222 (GRCm39) D206E probably benign Het
Bsn T C 9: 107,985,033 (GRCm39) D3007G unknown Het
Ccdc142 T G 6: 83,084,179 (GRCm39) probably benign Het
Cep135 T C 5: 76,763,504 (GRCm39) V498A probably benign Het
Cntn6 A T 6: 104,840,109 (GRCm39) Q1003L probably benign Het
Cntnap2 T A 6: 47,273,642 (GRCm39) probably benign Het
Csf2rb2 G A 15: 78,176,160 (GRCm39) Q139* probably null Het
Cyp3a16 A G 5: 145,399,895 (GRCm39) V101A probably benign Het
D630045J12Rik T C 6: 38,173,713 (GRCm39) T152A probably benign Het
Def8 G A 8: 124,181,096 (GRCm39) W176* probably null Het
Dgkg A G 16: 22,398,479 (GRCm39) probably benign Het
Ear10 T C 14: 44,160,451 (GRCm39) probably null Het
Fbxw2 A T 2: 34,712,859 (GRCm39) Y67* probably null Het
Flii T A 11: 60,606,378 (GRCm39) Y1104F probably damaging Het
Gm973 G A 1: 59,590,303 (GRCm39) R270K probably benign Het
Gnl3 T A 14: 30,739,110 (GRCm39) K75N probably damaging Het
Gpc6 A T 14: 117,861,905 (GRCm39) M274L probably benign Het
Ifi47 A G 11: 48,987,478 (GRCm39) E415G possibly damaging Het
Ift57 A G 16: 49,532,259 (GRCm39) T130A probably benign Het
Itpr2 T A 6: 146,072,910 (GRCm39) D2373V probably damaging Het
Kat6a T C 8: 23,429,339 (GRCm39) S1565P possibly damaging Het
Klhl6 A T 16: 19,766,823 (GRCm39) probably benign Het
Klra2 T C 6: 131,197,067 (GRCm39) probably benign Het
Lama5 A G 2: 179,831,124 (GRCm39) probably null Het
Mapk4 A G 18: 74,063,525 (GRCm39) S566P probably benign Het
Mindy4 C A 6: 55,253,570 (GRCm39) R480S possibly damaging Het
Mterf3 T C 13: 67,070,817 (GRCm39) probably benign Het
Mtmr2 A G 9: 13,713,209 (GRCm39) probably null Het
Myef2l T C 3: 10,153,843 (GRCm39) L204P possibly damaging Het
Naip5 T C 13: 100,356,196 (GRCm39) T1140A probably benign Het
Nf1 A G 11: 79,426,529 (GRCm39) T1648A probably damaging Het
Nlk A T 11: 78,586,670 (GRCm39) D141E probably benign Het
Noxa1 C A 2: 24,976,106 (GRCm39) probably benign Het
Or4g16 A G 2: 111,136,757 (GRCm39) N69S probably benign Het
Or5b121 A T 19: 13,507,613 (GRCm39) Y236F possibly damaging Het
Or5p55 T C 7: 107,566,679 (GRCm39) V25A probably benign Het
Otog G A 7: 45,913,652 (GRCm39) probably null Het
Pebp4 T C 14: 70,285,796 (GRCm39) probably benign Het
Phgdh G T 3: 98,240,607 (GRCm39) N100K possibly damaging Het
Pnisr T A 4: 21,873,800 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,702,242 (GRCm39) H346R probably benign Het
Rsf1 T C 7: 97,311,226 (GRCm39) V652A possibly damaging Het
Rubcn G A 16: 32,649,056 (GRCm39) H624Y probably damaging Het
Semp2l2a T C 8: 13,887,870 (GRCm39) R74G probably benign Het
Setdb2 T C 14: 59,644,153 (GRCm39) N656D probably benign Het
Slc22a23 T C 13: 34,483,076 (GRCm39) T268A probably benign Het
Slc3a1 A T 17: 85,340,222 (GRCm39) T215S possibly damaging Het
Srsf2 A G 11: 116,742,904 (GRCm39) S206P probably benign Het
Susd2 T A 10: 75,475,184 (GRCm39) D542V probably damaging Het
Svep1 G A 4: 58,073,121 (GRCm39) Q2063* probably null Het
Syne2 G A 12: 75,977,757 (GRCm39) V1401M possibly damaging Het
Tenm2 A G 11: 36,834,803 (GRCm39) L64P probably damaging Het
Tigd2 A G 6: 59,188,272 (GRCm39) T380A possibly damaging Het
Trmt12 G T 15: 58,745,834 (GRCm39) V411F probably damaging Het
Ubr4 T C 4: 139,163,613 (GRCm39) probably null Het
Ush2a G A 1: 188,554,935 (GRCm39) C3571Y probably benign Het
Usp8 A G 2: 126,562,030 (GRCm39) M75V possibly damaging Het
Vcan C T 13: 89,852,825 (GRCm39) D712N probably damaging Het
Vcan C A 13: 89,860,386 (GRCm39) R327L probably damaging Het
Vps8 A G 16: 21,253,683 (GRCm39) E8G probably benign Het
Washc5 T C 15: 59,231,258 (GRCm39) D335G probably benign Het
Zbtb39 A G 10: 127,578,704 (GRCm39) N426S probably benign Het
Zfp184 T A 13: 22,133,919 (GRCm39) D55E probably damaging Het
Zfp882 T C 8: 72,668,181 (GRCm39) V336A 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
IGL02695:Adam2 APN 14 66,287,929 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- TTTCCAGAAGCGAATGGGAAGTACC -3'
(R):5'- AAGGGAAAGCCACTGAACCTGC -3'

Sequencing Primer
(F):5'- acctttctcaacttctctacacc -3'
(R):5'- cctctccctcctcctcctc -3'
Posted On 2013-07-11