Incidental Mutation 'R5761:Adam2'
ID 445328
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 043363-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5761 (G1)
Quality Score 154
Status Validated
Chromosome 14
Chromosomal Location 66264778-66315182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66283595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 436 (C436S)
Ref Sequence ENSEMBL: ENSMUSP00000022618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022618]
AlphaFold Q60718
Predicted Effect probably damaging
Transcript: ENSMUST00000022618
AA Change: C436S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022618
Gene: ENSMUSG00000022039
AA Change: C436S

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
Meta Mutation Damage Score 0.8244 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 99% (67/68)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,100,927 (GRCm39) V953D probably damaging Het
Abcb8 T C 5: 24,610,879 (GRCm39) probably benign Het
Acad12 A T 5: 121,742,243 (GRCm39) probably benign Het
Aebp2 T C 6: 140,569,943 (GRCm39) probably benign Het
Akap8 A T 17: 32,536,159 (GRCm39) C85S possibly damaging Het
Aldh1a3 C A 7: 66,068,927 (GRCm39) R19L probably damaging Het
Baz2a A G 10: 127,955,559 (GRCm39) T848A possibly damaging Het
Bud13 C T 9: 46,199,350 (GRCm39) A237V probably benign Het
Cbarp CGCCTCTGCTGCCTCT CGCCTCT 10: 79,968,067 (GRCm39) probably benign Het
Ccdc187 G A 2: 26,166,104 (GRCm39) P775L possibly damaging Het
Ccz1 C T 5: 143,929,328 (GRCm39) G367R probably damaging Het
Cep104 T C 4: 154,065,681 (GRCm39) V56A possibly damaging Het
Chd6 C A 2: 160,798,998 (GRCm39) R2362S probably damaging Het
Chd6 C T 2: 160,798,999 (GRCm39) R2362K probably damaging Het
Cmc1 T C 9: 117,944,443 (GRCm39) E25G probably benign Het
Cntnap5b T C 1: 100,374,619 (GRCm39) S1123P probably damaging Het
Col4a3 T A 1: 82,693,778 (GRCm39) L66* probably null Het
Crmp1 A G 5: 37,440,212 (GRCm39) T329A probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp3a16 A G 5: 145,378,843 (GRCm39) S393P possibly damaging Het
Cyp4f18 T A 8: 72,749,975 (GRCm39) I225F probably damaging Het
Ddhd2 A G 8: 26,231,726 (GRCm39) V432A probably benign Het
Ecpas T C 4: 58,853,131 (GRCm39) I401M probably damaging Het
Foxq1 G A 13: 31,743,314 (GRCm39) A139T probably damaging Het
Gm10428 G T 11: 62,644,169 (GRCm39) probably benign Het
Gpr89 A G 3: 96,800,196 (GRCm39) L134P probably damaging Het
Hjv T C 3: 96,435,938 (GRCm39) S399P probably benign Het
Hrc A T 7: 44,986,025 (GRCm39) probably null Het
Igf1r T A 7: 67,857,001 (GRCm39) Y988N probably damaging Het
Igf2r A C 17: 12,917,239 (GRCm39) probably null Het
Itga2b A G 11: 102,357,100 (GRCm39) F260S probably benign Het
Kif2a T A 13: 107,098,672 (GRCm39) N698I probably benign Het
Lap3 A C 5: 45,662,147 (GRCm39) I316L probably benign Het
Map2k6 T G 11: 110,290,197 (GRCm39) probably benign Het
Mtrex T A 13: 113,054,196 (GRCm39) I146F probably damaging Het
Myh1 A G 11: 67,110,078 (GRCm39) E1422G probably damaging Het
Ncoa6 A G 2: 155,250,061 (GRCm39) V1081A probably benign Het
Nom1 A G 5: 29,642,639 (GRCm39) E380G probably damaging Het
Nwd2 A T 5: 63,882,573 (GRCm39) Y75F probably damaging Het
Or3a1b T A 11: 74,012,335 (GRCm39) D73E probably damaging Het
Or51a24 G A 7: 103,733,376 (GRCm39) R304W probably benign Het
Pkd1l1 A G 11: 8,866,301 (GRCm39) V518A probably damaging Het
Ptgs2 A G 1: 149,981,279 (GRCm39) M521V probably benign Het
Qsox1 T A 1: 155,655,274 (GRCm39) M630L probably benign Het
Spty2d1 A G 7: 46,648,032 (GRCm39) L299P probably damaging Het
St6gal1 T G 16: 23,139,805 (GRCm39) probably benign Het
Sult2a6 T C 7: 13,984,283 (GRCm39) Y149C probably damaging Het
Tlr3 G A 8: 45,855,808 (GRCm39) T124M probably benign Het
Tmem171 A G 13: 98,829,019 (GRCm39) Y44H probably damaging Het
Usp35 C T 7: 96,961,558 (GRCm39) V623I probably benign Het
Vangl2 T A 1: 171,833,694 (GRCm39) H463L probably damaging Het
Vmn1r175 A C 7: 23,507,905 (GRCm39) L241V probably benign Het
Vmn1r19 A T 6: 57,382,338 (GRCm39) K297I unknown Het
Vmn2r23 C A 6: 123,689,718 (GRCm39) T198K probably benign Het
Vmn2r-ps69 T A 7: 84,953,223 (GRCm39) noncoding transcript Het
Xirp2 A G 2: 67,341,311 (GRCm39) Y1184C probably benign Het
Ythdc1 A G 5: 86,983,810 (GRCm39) probably benign Het
Zbtb39 C T 10: 127,578,515 (GRCm39) A363V probably damaging Het
Zmiz1 T A 14: 25,651,728 (GRCm39) I527K possibly damaging Het
Zmiz1 C A 14: 25,651,730 (GRCm39) P534T probably damaging 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
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
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'- CTCCTTTGTGAGATGATCTTGCAC -3'
(R):5'- AGGCGAGCATCTGTCTGTAAG -3'

Sequencing Primer
(F):5'- GATGATCTTGCACCCCAAACTGG -3'
(R):5'- CGAGCATCTGTCTGTAAGCTATGAAG -3'
Posted On 2016-11-21