Incidental Mutation 'R0552:Adam9'
ID 45240
Institutional Source Beutler Lab
Gene Symbol Adam9
Ensembl Gene ENSMUSG00000031555
Gene Name ADAM metallopeptidase domain 9
Synonyms MDC9, Mltng, Mltng, MDC9
MMRRC Submission 038744-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0552 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 25439627-25506943 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25453026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 760 (N760K)
Ref Sequence ENSEMBL: ENSMUSP00000081048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084032] [ENSMUST00000084035] [ENSMUST00000208247]
AlphaFold Q61072
Predicted Effect probably benign
Transcript: ENSMUST00000084032
AA Change: N760K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081045
Gene: ENSMUSG00000031555
AA Change: N760K

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Pep_M12B_propep 43 163 8.5e-36 PFAM
Pfam:Reprolysin_5 210 386 5.5e-20 PFAM
Pfam:Reprolysin_4 210 402 1.4e-11 PFAM
Pfam:Reprolysin 212 406 1e-67 PFAM
Pfam:Reprolysin_2 232 396 1.1e-12 PFAM
Pfam:Reprolysin_3 236 358 8.1e-19 PFAM
DISIN 423 499 8.7e-44 SMART
ACR 500 637 9.7e-75 SMART
EGF 643 674 9.9e-2 SMART
transmembrane domain 699 718 N/A INTRINSIC
low complexity region 753 787 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084035
AA Change: N760K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000081048
Gene: ENSMUSG00000031555
AA Change: N760K

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Pep_M12B_propep 34 163 8.1e-31 PFAM
Pfam:Reprolysin_5 210 386 5.8e-22 PFAM
Pfam:Reprolysin_4 210 402 1.6e-13 PFAM
Pfam:Reprolysin 212 406 1.9e-73 PFAM
Pfam:Reprolysin_2 232 396 9.4e-15 PFAM
Pfam:Reprolysin_3 236 358 3.4e-19 PFAM
DISIN 423 499 1.71e-41 SMART
ACR 500 637 2.86e-72 SMART
EGF 643 674 2.03e1 SMART
transmembrane domain 699 718 N/A INTRINSIC
low complexity region 753 794 N/A INTRINSIC
low complexity region 808 826 N/A INTRINSIC
low complexity region 831 839 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000208247
AA Change: N760K
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous knockout mice exhibit progressive retinal degeneration, disorganized retinal layers and a degenerate retinal pigment epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcyl T A 16: 45,974,955 (GRCm39) T141S probably benign Het
Akr1b10 A G 6: 34,369,920 (GRCm39) T216A possibly damaging Het
Arsj A G 3: 126,232,993 (GRCm39) R580G probably benign Het
C9 A T 15: 6,474,918 (GRCm39) I26F probably damaging Het
Cacna2d1 A G 5: 16,533,041 (GRCm39) E578G probably damaging Het
Clca4b C T 3: 144,622,536 (GRCm39) V510I probably benign Het
Dab2 C T 15: 6,464,895 (GRCm39) T561I possibly damaging Het
Golga5 A T 12: 102,450,752 (GRCm39) E12D possibly damaging Het
Hsd17b12 A T 2: 93,874,280 (GRCm39) F208I probably damaging Het
Inf2 A G 12: 112,579,008 (GRCm39) probably benign Het
Kcnh3 T A 15: 99,127,337 (GRCm39) W378R probably damaging Het
Klhdc8b G C 9: 108,326,422 (GRCm39) R158G possibly damaging Het
Klhl41 G A 2: 69,500,554 (GRCm39) R5Q probably benign Het
Lcn3 T C 2: 25,656,421 (GRCm39) probably null Het
Mppe1 A G 18: 67,370,419 (GRCm39) probably null Het
Muc20 G A 16: 32,614,300 (GRCm39) A359V probably damaging Het
Myh14 T C 7: 44,263,105 (GRCm39) D1765G probably damaging Het
Or10j2 T C 1: 173,098,372 (GRCm39) M210T probably benign Het
Or4c10b C T 2: 89,711,235 (GRCm39) Q22* probably null Het
Or5p58 A G 7: 107,693,985 (GRCm39) M264T probably benign Het
Pbrm1 T A 14: 30,757,916 (GRCm39) L182Q probably damaging Het
Pde8a A G 7: 80,967,095 (GRCm39) N412S probably benign Het
Phyh A G 2: 4,940,912 (GRCm39) T271A probably damaging Het
Pkhd1l1 T C 15: 44,352,942 (GRCm39) S258P probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pyroxd1 A G 6: 142,291,463 (GRCm39) E2G probably benign Het
Ralgapa1 G T 12: 55,723,550 (GRCm39) Q2115K probably benign Het
Rufy3 A G 5: 88,732,129 (GRCm39) E44G possibly damaging Het
Slit2 A T 5: 48,395,721 (GRCm39) N712I probably damaging Het
Sptbn1 A G 11: 30,095,985 (GRCm39) M303T possibly damaging Het
Ssbp4 A G 8: 71,052,509 (GRCm39) I154T probably benign Het
Syne2 A G 12: 75,977,778 (GRCm39) K1409E probably benign Het
Tfap2b T C 1: 19,304,449 (GRCm39) Y420H probably damaging Het
Tlr5 A G 1: 182,803,261 (GRCm39) probably null Het
Tmprss15 C T 16: 78,821,637 (GRCm39) probably null Het
Tns1 A T 1: 73,959,722 (GRCm39) I418N probably damaging Het
Txlna A T 4: 129,522,984 (GRCm39) V452D probably benign Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Zfp764l1 A T 7: 126,991,504 (GRCm39) I161N possibly damaging Het
Other mutations in Adam9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01611:Adam9 APN 8 25,457,212 (GRCm39) missense probably benign 0.03
IGL01786:Adam9 APN 8 25,486,855 (GRCm39) missense probably damaging 1.00
IGL02095:Adam9 APN 8 25,486,745 (GRCm39) missense probably benign 0.00
IGL02322:Adam9 APN 8 25,445,990 (GRCm39) missense probably damaging 1.00
IGL02555:Adam9 APN 8 25,456,752 (GRCm39) missense probably damaging 1.00
IGL02869:Adam9 APN 8 25,460,634 (GRCm39) missense probably damaging 1.00
R0126:Adam9 UTSW 8 25,460,753 (GRCm39) missense probably damaging 1.00
R0448:Adam9 UTSW 8 25,454,926 (GRCm39) missense probably damaging 1.00
R0730:Adam9 UTSW 8 25,486,774 (GRCm39) missense probably benign 0.02
R1455:Adam9 UTSW 8 25,483,125 (GRCm39) missense probably benign 0.00
R1974:Adam9 UTSW 8 25,482,240 (GRCm39) missense probably damaging 1.00
R2043:Adam9 UTSW 8 25,486,669 (GRCm39) critical splice donor site probably null
R2054:Adam9 UTSW 8 25,481,310 (GRCm39) missense probably damaging 1.00
R2091:Adam9 UTSW 8 25,485,200 (GRCm39) splice site probably benign
R2111:Adam9 UTSW 8 25,472,142 (GRCm39) splice site probably benign
R4261:Adam9 UTSW 8 25,454,923 (GRCm39) nonsense probably null
R4852:Adam9 UTSW 8 25,493,317 (GRCm39) missense probably damaging 1.00
R5165:Adam9 UTSW 8 25,457,190 (GRCm39) missense possibly damaging 0.88
R6022:Adam9 UTSW 8 25,493,321 (GRCm39) missense possibly damaging 0.87
R6101:Adam9 UTSW 8 25,460,775 (GRCm39) missense probably damaging 1.00
R6105:Adam9 UTSW 8 25,460,775 (GRCm39) missense probably damaging 1.00
R6415:Adam9 UTSW 8 25,468,498 (GRCm39) missense probably damaging 1.00
R7241:Adam9 UTSW 8 25,441,002 (GRCm39) missense possibly damaging 0.53
R7442:Adam9 UTSW 8 25,457,223 (GRCm39) missense probably damaging 0.99
R7552:Adam9 UTSW 8 25,445,988 (GRCm39) missense unknown
R8076:Adam9 UTSW 8 25,452,938 (GRCm39) nonsense probably null
R8265:Adam9 UTSW 8 25,457,202 (GRCm39) missense probably damaging 1.00
R8762:Adam9 UTSW 8 25,457,235 (GRCm39) missense probably damaging 0.99
R9157:Adam9 UTSW 8 25,493,331 (GRCm39) missense probably damaging 0.98
R9164:Adam9 UTSW 8 25,486,795 (GRCm39) missense possibly damaging 0.79
R9424:Adam9 UTSW 8 25,445,953 (GRCm39) missense probably benign 0.06
R9576:Adam9 UTSW 8 25,445,953 (GRCm39) missense probably benign 0.06
R9674:Adam9 UTSW 8 25,441,014 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- CCAAGGGATGCCAGCTACTGAAAC -3'
(R):5'- CTCTGGTTGTCACTACCAGCATCAC -3'

Sequencing Primer
(F):5'- TTTTGGGGCTGAAGATCAAACC -3'
(R):5'- CAGCATCACCAACGTTTTATTTTG -3'
Posted On 2013-06-11