Incidental Mutation 'R2353:Adam7'
ID 246270
Institutional Source Beutler Lab
Gene Symbol Adam7
Ensembl Gene ENSMUSG00000022056
Gene Name a disintegrin and metallopeptidase domain 7
Synonyms EAP1
MMRRC Submission 040335-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R2353 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 68734785-68771138 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68742537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 692 (Q692L)
Ref Sequence ENSEMBL: ENSMUSP00000022640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022640]
AlphaFold O35227
Predicted Effect probably benign
Transcript: ENSMUST00000022640
AA Change: Q692L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000022640
Gene: ENSMUSG00000022056
AA Change: Q692L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 100% (32/32)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G T 4: 144,349,779 (GRCm39) E345D probably damaging Het
Ankk1 A C 9: 49,329,990 (GRCm39) C322G probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Apeh T C 9: 107,963,491 (GRCm39) D577G possibly damaging Het
Aspm T A 1: 139,405,435 (GRCm39) W1441R probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cd163 G T 6: 124,296,115 (GRCm39) E820* probably null Het
Cd38 T A 5: 44,065,353 (GRCm39) probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Enpp1 C A 10: 24,527,239 (GRCm39) Q649H probably benign Het
Garnl3 T A 2: 32,954,046 (GRCm39) R86S probably damaging Het
Gbe1 A G 16: 70,233,909 (GRCm39) probably null Het
Gm5117 A G 8: 32,229,223 (GRCm39) noncoding transcript Het
Hip1 A T 5: 135,441,566 (GRCm39) V568E probably damaging Het
Hspa14 G A 2: 3,512,213 (GRCm39) probably null Het
Lrrc4 A G 6: 28,831,451 (GRCm39) F55L probably benign Het
Med31 T A 11: 72,104,966 (GRCm39) N35I probably damaging Het
Msi1 C A 5: 115,574,568 (GRCm39) probably benign Het
Or1e34 T C 11: 73,778,660 (GRCm39) I179M probably benign Het
Or4b1 A T 2: 89,980,062 (GRCm39) L96Q probably damaging Het
Parl T C 16: 20,105,790 (GRCm39) T211A probably benign Het
Ppwd1 T C 13: 104,350,090 (GRCm39) I432V probably benign Het
Scn10a T A 9: 119,467,753 (GRCm39) I796F probably damaging Het
Semp2l2a T A 8: 13,886,951 (GRCm39) E380V probably damaging Het
Sh3rf3 A G 10: 58,842,895 (GRCm39) D287G probably damaging Het
Sin3b T C 8: 73,450,780 (GRCm39) probably null Het
Ubr4 T C 4: 139,160,984 (GRCm39) I2493T possibly damaging Het
Uts2 T A 4: 151,084,593 (GRCm39) probably null Het
Zfp109 T C 7: 23,928,806 (GRCm39) D201G probably benign Het
Zfp407 A G 18: 84,578,005 (GRCm39) F1036S probably damaging Het
Znrf3 T C 11: 5,231,170 (GRCm39) E685G probably damaging 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
R2156:Adam7 UTSW 14 68,748,792 (GRCm39) missense probably benign 0.02
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'- ACACACAAGTTAAGTGATAGGTAGC -3'
(R):5'- CCTTTAGGGAAGAGATAAAGTTGC -3'

Sequencing Primer
(F):5'- AGGTAGCTTGTACTTTCTATCAGTTC -3'
(R):5'- GCAACTATTGTTAGCAATCCACTGTC -3'
Posted On 2014-10-30