Incidental Mutation 'R4247:Adam22'
ID 320458
Institutional Source Beutler Lab
Gene Symbol Adam22
Ensembl Gene ENSMUSG00000040537
Gene Name a disintegrin and metallopeptidase domain 22
Synonyms MDC2, 2900022I03Rik
MMRRC Submission 041063-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4247 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 8122352-8418160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8195626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 305 (I305V)
Ref Sequence ENSEMBL: ENSMUSP00000111046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046838] [ENSMUST00000050166] [ENSMUST00000088744] [ENSMUST00000088761] [ENSMUST00000115385] [ENSMUST00000115386] [ENSMUST00000115388]
AlphaFold Q9R1V6
Predicted Effect probably benign
Transcript: ENSMUST00000046838
AA Change: I305V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049120
Gene: ENSMUSG00000040537
AA Change: I305V

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 probably benign
Transcript: ENSMUST00000050166
AA Change: I305V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537
AA Change: I305V

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 probably benign
Transcript: ENSMUST00000088744
AA Change: I305V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537
AA Change: I305V

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 benign
Transcript: ENSMUST00000088761
AA Change: I305V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537
AA Change: I305V

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 benign
Transcript: ENSMUST00000115385
AA Change: I305V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111043
Gene: ENSMUSG00000040537
AA Change: I305V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Pep_M12B_propep 40 186 5.2e-28 PFAM
low complexity region 214 230 N/A INTRINSIC
Pfam:Reprolysin 237 333 2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115386
AA Change: I305V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537
AA Change: I305V

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 benign
Transcript: ENSMUST00000115388
AA Change: I305V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537
AA Change: I305V

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
Meta Mutation Damage Score 0.0584 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (41/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aga T A 8: 53,964,865 (GRCm39) L9Q possibly damaging Het
Akna C T 4: 63,313,409 (GRCm39) G238D probably benign Het
Arhgap23 G A 11: 97,354,525 (GRCm39) E813K probably damaging Het
Atp13a2 T C 4: 140,719,539 (GRCm39) probably null Het
Atp8a1 C T 5: 67,824,917 (GRCm39) G820S probably damaging Het
Ccdc97 T G 7: 25,415,459 (GRCm39) H68P possibly damaging Het
Dclre1b A C 3: 103,711,400 (GRCm39) probably null Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fubp1 G A 3: 151,937,573 (GRCm39) A103T possibly damaging Het
Gnal C G 18: 67,221,654 (GRCm39) P19R unknown Het
Gtf3c5 T C 2: 28,461,196 (GRCm39) D306G probably damaging Het
Hecw2 C T 1: 53,871,804 (GRCm39) V1381M probably damaging Het
Hsdl2 A T 4: 59,594,417 (GRCm39) N16I probably damaging Het
Kif14 G T 1: 136,401,126 (GRCm39) M492I possibly damaging Het
Kif27 A G 13: 58,435,731 (GRCm39) V1354A probably damaging Het
Kif9 G T 9: 110,325,027 (GRCm39) probably null Het
Lmtk3 G A 7: 45,443,486 (GRCm39) C723Y possibly damaging Het
Lrrc24 A G 15: 76,602,176 (GRCm39) I193T possibly damaging Het
Or2bd2 A G 7: 6,441,901 (GRCm39) probably benign Het
Or52b1 T C 7: 104,979,355 (GRCm39) I15V probably benign Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Pramel52-ps A G 5: 94,531,446 (GRCm39) D110G possibly damaging Het
Ranbp2 A G 10: 58,314,686 (GRCm39) D1802G possibly damaging Het
Resf1 T A 6: 149,227,041 (GRCm39) M29K possibly damaging Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Scn11a C T 9: 119,636,952 (GRCm39) V250M probably damaging Het
Slitrk1 A G 14: 109,149,994 (GRCm39) V239A possibly damaging Het
Slitrk6 T A 14: 110,988,171 (GRCm39) D512V probably damaging Het
Snx8 A G 5: 140,341,800 (GRCm39) L121P probably damaging Het
Sumf1 A C 6: 108,131,974 (GRCm39) V156G probably damaging Het
Tamalin G T 15: 101,122,418 (GRCm39) R79L possibly damaging Het
Trp73 A G 4: 154,149,089 (GRCm39) probably null Het
Tsen2 A G 6: 115,524,785 (GRCm39) probably benign Het
Upp1 T C 11: 9,084,815 (GRCm39) I178T probably benign Het
Vmn2r73 A T 7: 85,521,883 (GRCm39) L152Q probably damaging Het
Vmn2r97 T C 17: 19,167,542 (GRCm39) S599P possibly damaging Het
Wrnip1 T C 13: 32,990,866 (GRCm39) L375P probably damaging Het
Zfp945 C T 17: 23,069,583 (GRCm39) G793D probably damaging Het
Zfyve9 C A 4: 108,576,389 (GRCm39) A231S probably benign 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
IGL01463:Adam22 APN 5 8,142,790 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACATCACAGTTGCATTGTGGTAG -3'
(R):5'- GGGAAGTACATTCAAGTTGCAAAAC -3'

Sequencing Primer
(F):5'- CAGTTGCATTGTGGTAGAAAGATAC -3'
(R):5'- ACAAAGTTATTTCCATGAAAGGAGC -3'
Posted On 2015-06-12