Incidental Mutation 'R4261:Adam9'
ID 322654
Institutional Source Beutler Lab
Gene Symbol Adam9
Ensembl Gene ENSMUSG00000031555
Gene Name ADAM metallopeptidase domain 9
Synonyms MDC9, Mltng, Mltng, MDC9
MMRRC Submission 041074-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4261 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 25439627-25506943 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 25454923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 733 (Q733*)
Ref Sequence ENSEMBL: ENSMUSP00000146545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084032] [ENSMUST00000084035] [ENSMUST00000208247]
AlphaFold Q61072
Predicted Effect probably null
Transcript: ENSMUST00000084032
AA Change: Q733*
SMART Domains Protein: ENSMUSP00000081045
Gene: ENSMUSG00000031555
AA Change: Q733*

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 null
Transcript: ENSMUST00000084035
AA Change: Q733*
SMART Domains Protein: ENSMUSP00000081048
Gene: ENSMUSG00000031555
AA Change: Q733*

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 probably null
Transcript: ENSMUST00000208247
AA Change: Q733*
Meta Mutation Damage Score 0.9712 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 96% (53/55)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,214,066 (GRCm39) S298P probably damaging Het
4930407I10Rik A G 15: 81,947,927 (GRCm39) D608G possibly damaging Het
Actr10 T C 12: 70,999,759 (GRCm39) V185A probably benign Het
Adamts4 C T 1: 171,086,673 (GRCm39) P822S probably benign Het
Arhgap9 G C 10: 127,164,334 (GRCm39) R537P probably damaging Het
Bsn T A 9: 107,987,883 (GRCm39) probably benign Het
Car5a A T 8: 122,671,488 (GRCm39) H15Q probably benign Het
Disp1 A T 1: 182,870,950 (GRCm39) I490N probably damaging Het
Dlgap5 T G 14: 47,651,245 (GRCm39) Y96S probably damaging Het
Dnah10 T A 5: 124,807,201 (GRCm39) V162D possibly damaging Het
Dock7 A T 4: 98,892,123 (GRCm39) M821K possibly damaging Het
Exoc3l T C 8: 106,017,599 (GRCm39) R528G probably damaging Het
Fam234b G A 6: 135,186,134 (GRCm39) G17E unknown Het
Grhl2 G A 15: 37,361,067 (GRCm39) G617D possibly damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,355,630 (GRCm39) probably null Het
Hoxd9 C A 2: 74,526,031 (GRCm39) probably benign Het
Hspa9 A G 18: 35,072,476 (GRCm39) S550P probably damaging Het
Ide A C 19: 37,306,585 (GRCm39) S63A unknown Het
Kat6b T A 14: 21,719,737 (GRCm39) I1363N probably damaging Het
Ltbp1 T A 17: 75,598,362 (GRCm39) C614* probably null Het
Mphosph8 A G 14: 56,911,922 (GRCm39) D315G probably benign Het
Mthfr-ps1 A C 5: 78,622,330 (GRCm39) noncoding transcript Het
Mug1 A G 6: 121,850,693 (GRCm39) T730A probably benign Het
Myef2 T C 2: 124,957,399 (GRCm39) T119A possibly damaging Het
Pald1 A G 10: 61,179,471 (GRCm39) L466P probably damaging Het
Pcdh15 G A 10: 74,481,512 (GRCm39) V286M probably damaging Het
Pcdhgb2 A G 18: 37,824,950 (GRCm39) D647G probably damaging Het
Pdgfrb A C 18: 61,210,703 (GRCm39) T737P probably benign Het
Pgk2 T G 17: 40,518,274 (GRCm39) T385P probably benign Het
Pkp4 A G 2: 59,135,506 (GRCm39) Y126C probably damaging Het
Plppr1 A G 4: 49,300,993 (GRCm39) I109V probably benign Het
Ppcs A G 4: 119,279,106 (GRCm39) F149L probably damaging Het
Ppp2r5d G A 17: 46,998,007 (GRCm39) Q219* probably null Het
Raf1 C T 6: 115,600,015 (GRCm39) probably null Het
Rfx7 C T 9: 72,523,925 (GRCm39) R372W probably damaging Het
Robo4 C A 9: 37,316,877 (GRCm39) S397R probably benign Het
Sat1 T C X: 153,998,182 (GRCm39) probably benign Het
Serpina1c T C 12: 103,863,339 (GRCm39) K287R probably benign Het
Sgsm2 T A 11: 74,782,854 (GRCm39) H34L probably damaging Het
Slc38a4 A G 15: 96,896,374 (GRCm39) Y498H probably damaging Het
Ttn T A 2: 76,628,384 (GRCm39) Y14592F probably damaging Het
Ube3b T C 5: 114,536,489 (GRCm39) F245S possibly damaging Het
Ugt3a1 G A 15: 9,335,879 (GRCm39) probably null Het
Wdr91 T A 6: 34,881,457 (GRCm39) S297C possibly damaging Het
Zcwpw2 T C 9: 117,827,982 (GRCm39) noncoding transcript 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
R0552:Adam9 UTSW 8 25,453,026 (GRCm39) missense probably benign 0.00
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
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'- AGAGCTAAGCCACCAGTCTTTC -3'
(R):5'- GACAGCTAATGTAACTGCCCATC -3'

Sequencing Primer
(F):5'- GGTTGTCCAATAGATAGTCCAGAC -3'
(R):5'- AATGTAACTGCCCATCACTGTC -3'
Posted On 2015-06-20