Incidental Mutation 'R2156:Adam7'
ID 234853
Institutional Source Beutler Lab
Gene Symbol Adam7
Ensembl Gene ENSMUSG00000022056
Gene Name a disintegrin and metallopeptidase domain 7
Synonyms EAP1
MMRRC Submission 040159-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R2156 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 68734785-68771138 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68748792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 485 (Q485R)
Ref Sequence ENSEMBL: ENSMUSP00000022640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022640]
AlphaFold O35227
Predicted Effect probably benign
Transcript: ENSMUST00000022640
AA Change: Q485R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022640
Gene: ENSMUSG00000022056
AA Change: Q485R

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 25 156 1.6e-28 PFAM
Pfam:Reprolysin_5 197 378 1.2e-12 PFAM
Pfam:Reprolysin_4 197 382 2.6e-12 PFAM
Pfam:Reprolysin 199 393 1.3e-70 PFAM
Pfam:Reprolysin_2 219 383 1.1e-9 PFAM
Pfam:Reprolysin_3 223 346 9.5e-14 PFAM
DISIN 410 485 8.79e-30 SMART
ACR 486 623 3.51e-58 SMART
transmembrane domain 667 689 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128069
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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 specifically expressed in epididymis where the encoded protein is transferred to the sperm surface during epididymal transit. This gene is located adjacent to a related gene from the ADAM family of proteins on chromosome 14. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility with decreased cell height in caput epididymis, spermatic granuloma, kinked sperm flagellum and reduced sperm motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T A 11: 58,313,134 (GRCm39) probably null Het
Acaa2 T C 18: 74,926,476 (GRCm39) probably null Het
Adcy4 T G 14: 56,006,627 (GRCm39) T1069P probably benign Het
Arsj T C 3: 126,232,337 (GRCm39) L361P probably damaging Het
Birc2 A C 9: 7,826,939 (GRCm39) L349R probably damaging Het
C1qa T C 4: 136,623,727 (GRCm39) Y159C probably damaging Het
Cdh13 A G 8: 119,963,703 (GRCm39) K428E probably damaging Het
Cenpe T C 3: 134,953,235 (GRCm39) M1563T probably benign Het
Col10a1 T C 10: 34,271,696 (GRCm39) V556A probably benign Het
Creg2 G A 1: 39,662,338 (GRCm39) L265F probably damaging Het
Cyp1a2 T A 9: 57,589,433 (GRCm39) D127V probably damaging Het
Cyp3a44 A T 5: 145,740,480 (GRCm39) Y53* probably null Het
Cyth1 C T 11: 118,073,634 (GRCm39) R233Q probably damaging Het
Dnmbp G A 19: 43,890,346 (GRCm39) H474Y possibly damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Ercc2 G A 7: 19,120,717 (GRCm39) R206H possibly damaging Het
Evx2 T A 2: 74,486,360 (GRCm39) H343L probably damaging Het
Fcrl2 T A 3: 87,164,648 (GRCm39) I293F probably benign Het
Gcnt4 A G 13: 97,082,974 (GRCm39) E90G probably damaging Het
Gid8 T G 2: 180,358,751 (GRCm39) C139G probably benign Het
Gm11938 C A 11: 99,493,933 (GRCm39) C54F probably damaging Het
Gm3336 G A 8: 71,174,509 (GRCm39) V158I probably benign Het
Gucy1b1 T C 3: 81,968,327 (GRCm39) N60D probably benign Het
Hdac7 T C 15: 97,691,944 (GRCm39) K810E probably benign Het
Hsp90ab1 A G 17: 45,880,629 (GRCm39) F361L possibly damaging Het
Igf2bp3 A T 6: 49,085,858 (GRCm39) probably null Het
Inpp4b T A 8: 82,775,118 (GRCm39) I772N probably damaging Het
Iqca1 A G 1: 90,017,238 (GRCm39) L390P possibly damaging Het
Itgb2 C T 10: 77,396,082 (GRCm39) R586W probably benign Het
Itih1 A G 14: 30,655,432 (GRCm39) S588P possibly damaging Het
Iyd T A 10: 3,497,166 (GRCm39) probably null Het
Kl A G 5: 150,912,425 (GRCm39) K725E probably benign Het
Layn T A 9: 50,968,697 (GRCm39) M349L probably benign Het
Map3k5 T C 10: 19,900,683 (GRCm39) Y286H probably damaging Het
Med4 C T 14: 73,755,472 (GRCm39) probably benign Het
Mfn1 T A 3: 32,588,400 (GRCm39) N42K possibly damaging Het
Mindy2 T C 9: 70,563,874 (GRCm39) D152G probably benign Het
Mrc2 A G 11: 105,238,682 (GRCm39) probably null Het
Mrpl11 C A 19: 5,012,497 (GRCm39) A26E probably damaging Het
Msh6 G A 17: 88,293,568 (GRCm39) W774* probably null Het
Mtch1 A T 17: 29,561,841 (GRCm39) V121E probably damaging Het
Mtg2 G T 2: 179,725,923 (GRCm39) E178* probably null Het
Nbas A T 12: 13,491,510 (GRCm39) N1461Y probably damaging Het
Ndfip2 A G 14: 105,525,204 (GRCm39) T65A probably benign Het
Ninl G T 2: 150,786,503 (GRCm39) Q1146K probably damaging Het
Notch1 T C 2: 26,350,873 (GRCm39) D2089G possibly damaging Het
Notch3 C T 17: 32,366,818 (GRCm39) V906M probably damaging Het
Or51l14 A G 7: 103,101,371 (GRCm39) I276V probably benign Het
Or6b6 A G 7: 106,570,775 (GRCm39) Y259H probably damaging Het
Osmr A T 15: 6,873,891 (GRCm39) Y169N probably benign Het
Ovgp1 T C 3: 105,885,033 (GRCm39) V124A possibly damaging Het
P2rx1 T C 11: 72,904,939 (GRCm39) M369T probably benign Het
Pde4dip T C 3: 97,631,534 (GRCm39) Q1125R probably damaging Het
Podn A T 4: 107,878,892 (GRCm39) V180E probably damaging Het
Pold1 A T 7: 44,188,542 (GRCm39) V475E probably damaging Het
Polg A G 7: 79,111,468 (GRCm39) I261T possibly damaging Het
Satb1 G T 17: 52,047,438 (GRCm39) Q595K probably benign Het
Scaf8 T A 17: 3,214,407 (GRCm39) probably null Het
Semp2l1 T A 1: 32,585,128 (GRCm39) M261L probably benign Het
Serpinb3a C T 1: 106,975,202 (GRCm39) probably null Het
Slc22a26 T C 19: 7,779,480 (GRCm39) D112G probably damaging Het
Slc25a23 A G 17: 57,352,562 (GRCm39) F441L probably benign Het
Slc25a53 T C X: 135,884,216 (GRCm39) T42A probably damaging Het
Slc6a15 T C 10: 103,229,269 (GRCm39) Y103H probably damaging Het
Slx4 A G 16: 3,804,223 (GRCm39) S864P probably benign Het
Snap91 T C 9: 86,707,130 (GRCm39) E220G probably damaging Het
Spam1 T C 6: 24,796,267 (GRCm39) F73L probably damaging Het
Sphkap C T 1: 83,255,710 (GRCm39) V393M probably benign Het
Spred2 T C 11: 19,971,241 (GRCm39) Y370H probably damaging Het
Sqle T C 15: 59,195,578 (GRCm39) probably null Het
Srrm2 A G 17: 24,037,237 (GRCm39) T1390A probably benign Het
Tas1r2 A G 4: 139,396,352 (GRCm39) R564G possibly damaging Het
Tbl2 G T 5: 135,185,374 (GRCm39) probably null Het
Tcof1 T C 18: 60,964,901 (GRCm39) D606G possibly damaging Het
Tdpoz3 T A 3: 93,734,087 (GRCm39) L254H probably damaging Het
Trpm1 A T 7: 63,884,736 (GRCm39) I806F probably damaging Het
Ttc22 A G 4: 106,496,237 (GRCm39) D429G probably benign Het
Ube2o C A 11: 116,471,972 (GRCm39) G90C probably damaging Het
Usp34 T A 11: 23,332,602 (GRCm39) F1110I probably damaging Het
Vmn2r82 T C 10: 79,214,722 (GRCm39) L235P probably damaging Het
Vps35 A G 8: 86,013,129 (GRCm39) V116A probably benign Het
Wdfy3 A G 5: 102,046,291 (GRCm39) probably null Het
Zeb2 T C 2: 44,878,821 (GRCm39) K1138E probably benign Het
Zfp513 G A 5: 31,357,866 (GRCm39) T169I probably benign Het
Zfp629 T C 7: 127,211,551 (GRCm39) D86G probably benign Het
Other mutations in Adam7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00667:Adam7 APN 14 68,759,387 (GRCm39) missense possibly damaging 0.68
IGL01418:Adam7 APN 14 68,762,655 (GRCm39) missense probably benign
IGL01934:Adam7 APN 14 68,770,048 (GRCm39) missense probably damaging 1.00
IGL02655:Adam7 APN 14 68,754,060 (GRCm39) missense probably damaging 1.00
IGL02669:Adam7 APN 14 68,745,343 (GRCm39) missense probably damaging 1.00
PIT4445001:Adam7 UTSW 14 68,747,197 (GRCm39) missense possibly damaging 0.88
R0195:Adam7 UTSW 14 68,765,076 (GRCm39) splice site probably benign
R0277:Adam7 UTSW 14 68,748,306 (GRCm39) splice site probably null
R0362:Adam7 UTSW 14 68,747,105 (GRCm39) splice site probably benign
R0440:Adam7 UTSW 14 68,748,305 (GRCm39) splice site probably null
R0927:Adam7 UTSW 14 68,754,133 (GRCm39) missense probably damaging 1.00
R1172:Adam7 UTSW 14 68,752,370 (GRCm39) missense probably damaging 1.00
R1270:Adam7 UTSW 14 68,765,118 (GRCm39) missense probably damaging 0.98
R1299:Adam7 UTSW 14 68,763,748 (GRCm39) splice site probably benign
R1527:Adam7 UTSW 14 68,738,970 (GRCm39) missense probably benign 0.04
R1543:Adam7 UTSW 14 68,759,371 (GRCm39) splice site probably benign
R1731:Adam7 UTSW 14 68,762,805 (GRCm39) missense probably damaging 1.00
R1732:Adam7 UTSW 14 68,735,899 (GRCm39) missense probably benign 0.00
R1921:Adam7 UTSW 14 68,750,074 (GRCm39) missense possibly damaging 0.55
R2062:Adam7 UTSW 14 68,742,610 (GRCm39) missense probably benign 0.09
R2353:Adam7 UTSW 14 68,742,537 (GRCm39) missense probably benign 0.01
R2697:Adam7 UTSW 14 68,752,232 (GRCm39) nonsense probably null
R4080:Adam7 UTSW 14 68,757,988 (GRCm39) missense probably benign 0.05
R4775:Adam7 UTSW 14 68,745,361 (GRCm39) missense probably benign 0.41
R5202:Adam7 UTSW 14 68,745,305 (GRCm39) missense possibly damaging 0.92
R6006:Adam7 UTSW 14 68,748,845 (GRCm39) missense probably damaging 1.00
R6087:Adam7 UTSW 14 68,748,206 (GRCm39) missense probably damaging 1.00
R6376:Adam7 UTSW 14 68,742,546 (GRCm39) missense possibly damaging 0.78
R6417:Adam7 UTSW 14 68,742,070 (GRCm39) missense probably benign 0.37
R6672:Adam7 UTSW 14 68,742,151 (GRCm39) critical splice acceptor site probably null
R6756:Adam7 UTSW 14 68,762,728 (GRCm39) missense probably benign 0.00
R6777:Adam7 UTSW 14 68,762,784 (GRCm39) missense probably damaging 1.00
R6913:Adam7 UTSW 14 68,771,100 (GRCm39) missense probably benign 0.22
R7127:Adam7 UTSW 14 68,752,218 (GRCm39) critical splice donor site probably null
R7209:Adam7 UTSW 14 68,767,268 (GRCm39) missense probably damaging 1.00
R7399:Adam7 UTSW 14 68,741,915 (GRCm39) splice site probably null
R7675:Adam7 UTSW 14 68,737,302 (GRCm39) missense probably benign 0.07
R7788:Adam7 UTSW 14 68,750,094 (GRCm39) missense possibly damaging 0.62
R7868:Adam7 UTSW 14 68,770,090 (GRCm39) missense possibly damaging 0.84
R8135:Adam7 UTSW 14 68,754,022 (GRCm39) missense probably damaging 1.00
R8281:Adam7 UTSW 14 68,745,334 (GRCm39) missense possibly damaging 0.65
R8507:Adam7 UTSW 14 68,763,773 (GRCm39) missense probably damaging 1.00
R9049:Adam7 UTSW 14 68,762,674 (GRCm39) missense probably benign 0.01
R9240:Adam7 UTSW 14 68,747,208 (GRCm39) missense probably benign 0.02
R9429:Adam7 UTSW 14 68,771,080 (GRCm39) missense probably null
R9744:Adam7 UTSW 14 68,742,583 (GRCm39) missense probably benign 0.00
Z1176:Adam7 UTSW 14 68,765,150 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- TTGCAGTCAAGAGATGCTAGG -3'
(R):5'- AGCTTTCTACCTGTGTGCTCAG -3'

Sequencing Primer
(F):5'- GCCACAAGCTATATCATTCCCAGTTG -3'
(R):5'- GTGTGCTCAGTTTCGCTAAC -3'
Posted On 2014-10-01