Incidental Mutation 'IGL01463:Adam22'
ID 88038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam22
Ensembl Gene ENSMUSG00000040537
Gene Name a disintegrin and metallopeptidase domain 22
Synonyms MDC2, 2900022I03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01463
Quality Score
Status
Chromosome 5
Chromosomal Location 8122352-8418160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8142790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 773 (D773G)
Ref Sequence ENSEMBL: ENSMUSP00000111046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046838] [ENSMUST00000050166] [ENSMUST00000088744] [ENSMUST00000088761] [ENSMUST00000115386] [ENSMUST00000115388] [ENSMUST00000123168] [ENSMUST00000199853] [ENSMUST00000197700] [ENSMUST00000139048] [ENSMUST00000139841] [ENSMUST00000153889] [ENSMUST00000126384] [ENSMUST00000153427] [ENSMUST00000136524] [ENSMUST00000136808] [ENSMUST00000144241] [ENSMUST00000130315] [ENSMUST00000154935]
AlphaFold Q9R1V6
Predicted Effect probably damaging
Transcript: ENSMUST00000046838
AA Change: D815G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049120
Gene: ENSMUSG00000040537
AA Change: D815G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 44 186 7e-27 PFAM
low complexity region 214 230 N/A INTRINSIC
Pfam:Reprolysin_5 235 405 9.3e-9 PFAM
Pfam:Reprolysin 237 436 1.1e-58 PFAM
Pfam:Reprolysin_3 261 379 3e-12 PFAM
DISIN 451 527 3.38e-31 SMART
ACR 528 669 3.05e-58 SMART
EGF 676 710 1.28e1 SMART
transmembrane domain 735 757 N/A INTRINSIC
low complexity region 789 808 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000050166
AA Change: D779G

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537
AA Change: D779G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 44 186 7.6e-27 PFAM
low complexity region 214 230 N/A INTRINSIC
Pfam:Reprolysin_5 235 405 1.1e-8 PFAM
Pfam:Reprolysin 237 436 1.1e-58 PFAM
Pfam:Reprolysin_3 261 379 3.4e-12 PFAM
DISIN 451 527 3.38e-31 SMART
ACR 528 669 3.05e-58 SMART
EGF 676 710 1.28e1 SMART
transmembrane domain 735 757 N/A INTRINSIC
low complexity region 824 839 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000088744
AA Change: D838G

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537
AA Change: D838G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 41 186 4.2e-29 PFAM
low complexity region 214 230 N/A INTRINSIC
Pfam:Reprolysin_5 235 405 1.2e-8 PFAM
Pfam:Reprolysin 237 436 2.9e-65 PFAM
Pfam:Reprolysin_3 261 378 9.2e-13 PFAM
DISIN 451 527 3.38e-31 SMART
ACR 528 669 3.05e-58 SMART
EGF 676 710 1.28e1 SMART
transmembrane domain 736 758 N/A INTRINSIC
low complexity region 785 800 N/A INTRINSIC
low complexity region 883 898 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000088761
AA Change: D815G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537
AA Change: D815G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 44 186 8.1e-27 PFAM
low complexity region 214 230 N/A INTRINSIC
Pfam:Reprolysin_5 235 405 1.2e-8 PFAM
Pfam:Reprolysin 237 436 1.1e-58 PFAM
Pfam:Reprolysin_3 261 379 3.6e-12 PFAM
DISIN 451 527 3.38e-31 SMART
ACR 528 669 3.05e-58 SMART
EGF 676 710 1.28e1 SMART
transmembrane domain 735 757 N/A INTRINSIC
low complexity region 789 808 N/A INTRINSIC
low complexity region 860 875 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115386
AA Change: D779G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537
AA Change: D779G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 44 186 3.4e-27 PFAM
low complexity region 214 230 N/A INTRINSIC
Pfam:Reprolysin_5 235 405 5.1e-9 PFAM
Pfam:Reprolysin 237 436 5e-59 PFAM
Pfam:Reprolysin_3 261 379 1.6e-12 PFAM
DISIN 451 527 3.38e-31 SMART
ACR 528 669 3.05e-58 SMART
EGF 676 710 1.28e1 SMART
transmembrane domain 735 757 N/A INTRINSIC
low complexity region 850 870 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115388
AA Change: D773G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537
AA Change: D773G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 44 186 8e-27 PFAM
low complexity region 214 230 N/A INTRINSIC
Pfam:Reprolysin_5 235 405 1.1e-8 PFAM
Pfam:Reprolysin 237 436 1.1e-58 PFAM
Pfam:Reprolysin_3 261 379 3.5e-12 PFAM
DISIN 451 527 3.38e-31 SMART
ACR 528 669 3.05e-58 SMART
EGF 676 710 1.28e1 SMART
transmembrane domain 735 757 N/A INTRINSIC
low complexity region 852 872 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123168
AA Change: D71G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122758
Gene: ENSMUSG00000040537
AA Change: D71G

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 123 143 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000199853
AA Change: T92A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143097
Gene: ENSMUSG00000040537
AA Change: T92A

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000197700
AA Change: T86A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142580
Gene: ENSMUSG00000040537
AA Change: T86A

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 129 145 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000139048
AA Change: D107G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116736
Gene: ENSMUSG00000040537
AA Change: D107G

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 81 100 N/A INTRINSIC
low complexity region 186 206 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000139841
AA Change: D65G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115775
Gene: ENSMUSG00000040537
AA Change: D65G

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 144 164 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000153889
AA Change: D107G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123196
Gene: ENSMUSG00000040537
AA Change: D107G

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 81 100 N/A INTRINSIC
low complexity region 152 167 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000126384
AA Change: D136G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118571
Gene: ENSMUSG00000040537
AA Change: D136G

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 83 98 N/A INTRINSIC
low complexity region 181 196 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000153427
AA Change: D101G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120995
Gene: ENSMUSG00000040537
AA Change: D101G

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 75 94 N/A INTRINSIC
low complexity region 209 229 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136524
AA Change: D71G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116422
Gene: ENSMUSG00000040537
AA Change: D71G

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 152 172 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136808
AA Change: D136G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122426
Gene: ENSMUSG00000040537
AA Change: D136G

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 83 98 N/A INTRINSIC
low complexity region 207 227 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000144241
AA Change: D101G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138353
Gene: ENSMUSG00000040537
AA Change: D101G

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 75 94 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130315
AA Change: D71G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121156
Gene: ENSMUSG00000040537
AA Change: D71G

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 150 170 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000154935
AA Change: D136G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119409
Gene: ENSMUSG00000040537
AA Change: D136G

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
low complexity region 83 98 N/A INTRINSIC
low complexity region 225 245 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000124121
AA Change: D161G
SMART Domains Protein: ENSMUSP00000122652
Gene: ENSMUSG00000040537
AA Change: D161G

DomainStartEndE-ValueType
Blast:ACR 2 52 5e-28 BLAST
EGF 59 93 1.28e1 SMART
transmembrane domain 118 140 N/A INTRINSIC
low complexity region 207 222 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196356
Coding Region Coverage
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. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. The protein encoded by this gene is believed to lack metalloproteinase activity due to the lack of a critical catalytic motif. Mice lacking the encoded protein exhibit severe ataxia, hypomyelination and premature death. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice exhibit severe ataxia, die before weaning and have marked hypomyelination of the peripheral nerves. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clvs1 A G 4: 9,429,818 (GRCm39) T274A probably benign Het
Cyp2c50 G T 19: 40,079,422 (GRCm39) C172F probably damaging Het
Fam83h G T 15: 75,875,637 (GRCm39) R567S possibly damaging Het
Fastkd1 A G 2: 69,520,405 (GRCm39) probably null Het
Gmds A T 13: 32,418,341 (GRCm39) Y48N probably damaging Het
Mov10 C T 3: 104,707,640 (GRCm39) R578H probably damaging Het
Pcna A T 2: 132,093,349 (GRCm39) Y133N probably damaging Het
Rhag T C 17: 41,139,646 (GRCm39) I126T probably damaging Het
Sdr16c6 C T 4: 4,063,238 (GRCm39) G179D probably damaging Het
Sv2b C T 7: 74,786,203 (GRCm39) G406S probably damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Vmn2r93 T A 17: 18,525,150 (GRCm39) N269K probably damaging Het
Other mutations in Adam22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Adam22 APN 5 8,177,333 (GRCm39) missense probably benign 0.44
IGL01368:Adam22 APN 5 8,177,411 (GRCm39) missense probably damaging 1.00
IGL01406:Adam22 APN 5 8,180,212 (GRCm39) nonsense probably null
IGL01691:Adam22 APN 5 8,142,742 (GRCm39) missense probably damaging 1.00
IGL01798:Adam22 APN 5 8,282,604 (GRCm39) splice site probably null
IGL01975:Adam22 APN 5 8,217,396 (GRCm39) missense probably damaging 1.00
IGL02076:Adam22 APN 5 8,186,900 (GRCm39) missense probably damaging 1.00
IGL02170:Adam22 APN 5 8,184,845 (GRCm39) missense probably benign
IGL02189:Adam22 APN 5 8,380,029 (GRCm39) missense possibly damaging 0.91
IGL02859:Adam22 APN 5 8,217,375 (GRCm39) missense probably damaging 1.00
IGL03189:Adam22 APN 5 8,161,897 (GRCm39) nonsense probably null
IGL03326:Adam22 APN 5 8,177,421 (GRCm39) missense probably damaging 1.00
IGL03329:Adam22 APN 5 8,199,210 (GRCm39) missense possibly damaging 0.48
IGL03354:Adam22 APN 5 8,208,890 (GRCm39) missense possibly damaging 0.82
IGL03394:Adam22 APN 5 8,217,379 (GRCm39) missense probably benign 0.00
IGL03047:Adam22 UTSW 5 8,132,220 (GRCm39) missense probably damaging 1.00
R0445:Adam22 UTSW 5 8,230,591 (GRCm39) intron probably benign
R0486:Adam22 UTSW 5 8,380,048 (GRCm39) missense probably damaging 1.00
R0669:Adam22 UTSW 5 8,193,036 (GRCm39) splice site probably benign
R0866:Adam22 UTSW 5 8,132,156 (GRCm39) missense probably damaging 0.98
R1510:Adam22 UTSW 5 8,202,408 (GRCm39) missense probably benign 0.06
R1562:Adam22 UTSW 5 8,145,007 (GRCm39) missense probably damaging 1.00
R1640:Adam22 UTSW 5 8,195,689 (GRCm39) missense probably damaging 1.00
R1903:Adam22 UTSW 5 8,184,525 (GRCm39) missense probably damaging 1.00
R1939:Adam22 UTSW 5 8,380,015 (GRCm39) missense probably damaging 1.00
R1998:Adam22 UTSW 5 8,379,995 (GRCm39) missense probably damaging 1.00
R2012:Adam22 UTSW 5 8,167,634 (GRCm39) missense probably damaging 1.00
R2214:Adam22 UTSW 5 8,186,805 (GRCm39) critical splice donor site probably null
R2270:Adam22 UTSW 5 8,171,108 (GRCm39) missense probably damaging 0.98
R2271:Adam22 UTSW 5 8,171,108 (GRCm39) missense probably damaging 0.98
R2286:Adam22 UTSW 5 8,195,616 (GRCm39) missense probably damaging 1.00
R2304:Adam22 UTSW 5 8,142,366 (GRCm39) missense probably damaging 1.00
R2406:Adam22 UTSW 5 8,230,064 (GRCm39) intron probably benign
R2656:Adam22 UTSW 5 8,167,696 (GRCm39) missense probably damaging 1.00
R3106:Adam22 UTSW 5 8,167,583 (GRCm39) splice site probably null
R3870:Adam22 UTSW 5 8,182,418 (GRCm39) missense probably damaging 1.00
R3923:Adam22 UTSW 5 8,180,514 (GRCm39) missense possibly damaging 0.68
R4092:Adam22 UTSW 5 8,145,004 (GRCm39) missense probably damaging 1.00
R4180:Adam22 UTSW 5 8,199,218 (GRCm39) missense probably damaging 1.00
R4247:Adam22 UTSW 5 8,195,626 (GRCm39) missense probably benign
R4486:Adam22 UTSW 5 8,230,227 (GRCm39) intron probably benign
R4629:Adam22 UTSW 5 8,282,663 (GRCm39) missense possibly damaging 0.95
R4744:Adam22 UTSW 5 8,128,699 (GRCm39) missense probably damaging 0.98
R4839:Adam22 UTSW 5 8,186,813 (GRCm39) missense probably damaging 1.00
R5007:Adam22 UTSW 5 8,217,393 (GRCm39) missense probably damaging 1.00
R5030:Adam22 UTSW 5 8,229,645 (GRCm39) intron probably benign
R5061:Adam22 UTSW 5 8,230,238 (GRCm39) intron probably benign
R5312:Adam22 UTSW 5 8,140,182 (GRCm39) missense probably damaging 1.00
R5353:Adam22 UTSW 5 8,140,182 (GRCm39) missense probably damaging 1.00
R5354:Adam22 UTSW 5 8,140,182 (GRCm39) missense probably damaging 1.00
R5356:Adam22 UTSW 5 8,140,182 (GRCm39) missense probably damaging 1.00
R5423:Adam22 UTSW 5 8,140,182 (GRCm39) missense probably damaging 1.00
R5424:Adam22 UTSW 5 8,140,182 (GRCm39) missense probably damaging 1.00
R5719:Adam22 UTSW 5 8,417,217 (GRCm39) missense probably benign
R5763:Adam22 UTSW 5 8,184,544 (GRCm39) missense probably damaging 1.00
R5768:Adam22 UTSW 5 8,177,426 (GRCm39) missense probably benign 0.35
R5776:Adam22 UTSW 5 8,177,361 (GRCm39) missense probably benign 0.26
R5839:Adam22 UTSW 5 8,186,861 (GRCm39) missense probably damaging 0.99
R6314:Adam22 UTSW 5 8,177,365 (GRCm39) nonsense probably null
R6520:Adam22 UTSW 5 8,166,635 (GRCm39) missense probably damaging 0.98
R6798:Adam22 UTSW 5 8,210,784 (GRCm39) missense probably damaging 1.00
R6924:Adam22 UTSW 5 8,417,322 (GRCm39) missense possibly damaging 0.78
R6938:Adam22 UTSW 5 8,196,499 (GRCm39) missense probably benign 0.01
R7317:Adam22 UTSW 5 8,140,202 (GRCm39) missense probably benign
R7402:Adam22 UTSW 5 8,145,049 (GRCm39) missense possibly damaging 0.95
R7431:Adam22 UTSW 5 8,142,818 (GRCm39) missense probably damaging 1.00
R7527:Adam22 UTSW 5 8,132,239 (GRCm39) missense possibly damaging 0.66
R7571:Adam22 UTSW 5 8,132,160 (GRCm39) nonsense probably null
R7627:Adam22 UTSW 5 8,417,933 (GRCm39) missense probably benign
R7678:Adam22 UTSW 5 8,137,750 (GRCm39) splice site probably null
R7714:Adam22 UTSW 5 8,167,587 (GRCm39) critical splice donor site probably null
R7806:Adam22 UTSW 5 8,142,825 (GRCm39) missense probably damaging 1.00
R7834:Adam22 UTSW 5 8,180,535 (GRCm39) missense probably damaging 1.00
R7837:Adam22 UTSW 5 8,199,284 (GRCm39) critical splice acceptor site probably null
R7979:Adam22 UTSW 5 8,186,804 (GRCm39) critical splice donor site probably null
R8123:Adam22 UTSW 5 8,142,833 (GRCm39) critical splice acceptor site probably null
R8511:Adam22 UTSW 5 8,184,558 (GRCm39) missense probably damaging 0.98
R8722:Adam22 UTSW 5 8,166,554 (GRCm39) missense probably benign
R8730:Adam22 UTSW 5 8,208,830 (GRCm39) missense probably benign 0.00
R8956:Adam22 UTSW 5 8,142,343 (GRCm39) missense probably damaging 1.00
R9015:Adam22 UTSW 5 8,136,688 (GRCm39) intron probably benign
R9068:Adam22 UTSW 5 8,177,343 (GRCm39) missense probably benign 0.01
R9198:Adam22 UTSW 5 8,167,583 (GRCm39) splice site probably null
R9441:Adam22 UTSW 5 8,161,974 (GRCm39) missense possibly damaging 0.70
R9480:Adam22 UTSW 5 8,193,077 (GRCm39) missense probably benign 0.01
X0067:Adam22 UTSW 5 8,177,329 (GRCm39) missense probably benign 0.05
Posted On 2013-11-18