Incidental Mutation 'R5061:Adam22'
ID 386610
Institutional Source Beutler Lab
Gene Symbol Adam22
Ensembl Gene ENSMUSG00000040537
Gene Name a disintegrin and metallopeptidase domain 22
Synonyms MDC2, 2900022I03Rik
MMRRC Submission 042651-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5061 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 8122352-8418160 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to C at 8230238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000049120
Gene: ENSMUSG00000040537

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
SMART Domains Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537

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
SMART Domains Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537

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
SMART Domains Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537

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
SMART Domains Protein: ENSMUSP00000111043
Gene: ENSMUSG00000040537

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
SMART Domains Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537

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 noncoding transcript
Transcript: ENSMUST00000178345
SMART Domains Protein: ENSMUSP00000136133
Gene: ENSMUSG00000094226

DomainStartEndE-ValueType
S_TKc 24 271 1.67e-93 SMART
low complexity region 325 339 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115388
SMART Domains Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 100% (71/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A G 4: 39,450,953 (GRCm39) H53R probably benign Het
Abcg1 A G 17: 31,311,366 (GRCm39) K124E probably damaging Het
Acot4 G T 12: 84,085,475 (GRCm39) R64L probably benign Het
Add2 G A 6: 86,064,029 (GRCm39) probably null Het
Adgrb3 G A 1: 25,107,209 (GRCm39) probably benign Het
Akap8l T G 17: 32,551,868 (GRCm39) K441T probably damaging Het
Aspn T A 13: 49,720,080 (GRCm39) S365R probably damaging Het
Atxn1 T G 13: 45,710,569 (GRCm39) K788Q probably damaging Het
Atxn2l G T 7: 126,099,375 (GRCm39) H135N probably damaging Het
Borcs8 T G 8: 70,593,008 (GRCm39) probably null Het
Col5a1 G A 2: 27,842,390 (GRCm39) D422N unknown Het
Cstad A T 2: 30,498,275 (GRCm39) T37S unknown Het
Dgkq A T 5: 108,801,989 (GRCm39) D455E probably benign Het
Dop1a T C 9: 86,385,161 (GRCm39) probably benign Het
Ebf3 T C 7: 136,915,288 (GRCm39) I84V possibly damaging Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Eif3e A T 15: 43,115,657 (GRCm39) W370R probably damaging Het
Eya3 T A 4: 132,431,689 (GRCm39) D323E probably damaging Het
F5 T C 1: 164,021,749 (GRCm39) L1408P probably benign Het
Fam110d T C 4: 133,979,041 (GRCm39) T146A probably benign Het
Gfod1 C T 13: 43,353,992 (GRCm39) G328S probably benign Het
Gja1 T A 10: 56,263,752 (GRCm39) L37Q probably damaging Het
Gm10650 T A 3: 127,833,666 (GRCm39) noncoding transcript Het
Gm14226 T A 2: 154,867,106 (GRCm39) H354Q probably benign Het
Gm15056 T C 8: 21,390,758 (GRCm39) T60A probably benign Het
Hsd11b1 A T 1: 192,924,553 (GRCm39) N6K probably benign Het
Ighv1-36 T C 12: 114,843,742 (GRCm39) I39M probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kdm7a G A 6: 39,128,386 (GRCm39) P482S possibly damaging Het
Lama5 C A 2: 179,840,579 (GRCm39) E607* probably null Het
Lao1 T A 4: 118,824,673 (GRCm39) S252T probably benign Het
Lrp12 A G 15: 39,741,650 (GRCm39) F355S probably damaging Het
Mlycd T C 8: 120,137,043 (GRCm39) F421S probably damaging Het
Nectin3 T C 16: 46,268,812 (GRCm39) E530G probably benign Het
Nifk T C 1: 118,260,669 (GRCm39) *270R probably null Het
Ocln T C 13: 100,676,106 (GRCm39) Y129C probably damaging Het
Or10ag60 C T 2: 87,438,176 (GRCm39) T148I probably benign Het
Or4f54 T A 2: 111,122,832 (GRCm39) L73H probably damaging Het
Or52l1 T A 7: 104,829,864 (GRCm39) I219F possibly damaging Het
Or5b117 A T 19: 13,431,349 (GRCm39) C177* probably null Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb22 G T 18: 37,652,179 (GRCm39) G216C probably damaging Het
Ppcs T C 4: 119,276,412 (GRCm39) K58E probably damaging Het
Prss38 T C 11: 59,265,196 (GRCm39) T123A probably damaging Het
Rap1gap T A 4: 137,447,744 (GRCm39) probably null Het
Rbm18 A G 2: 36,017,217 (GRCm39) F54L possibly damaging Het
Rwdd3 G A 3: 120,953,432 (GRCm39) probably benign Het
Ryr2 T C 13: 11,650,422 (GRCm39) K138E possibly damaging Het
Sec24a T C 11: 51,604,359 (GRCm39) probably null Het
Serpinb10 A G 1: 107,468,701 (GRCm39) T115A probably benign Het
Slco1a8 T A 6: 141,954,414 (GRCm39) M20L probably benign Het
Slx4ip T G 2: 136,885,930 (GRCm39) F83L probably damaging Het
St3gal1 A T 15: 66,980,078 (GRCm39) S274T probably benign Het
Stab1 A C 14: 30,885,056 (GRCm39) C121W probably damaging Het
Stab2 A G 10: 86,743,249 (GRCm39) L1149P probably damaging Het
Svil T G 18: 5,048,954 (GRCm39) I77R probably benign Het
Tbk1 T G 10: 121,412,241 (GRCm39) E47A possibly damaging Het
Tert C T 13: 73,782,397 (GRCm39) T557I probably damaging Het
Tfap2c A G 2: 172,393,947 (GRCm39) D252G probably damaging Het
Tll1 C A 8: 64,506,983 (GRCm39) C586F probably damaging Het
Tln2 T G 9: 67,261,750 (GRCm39) N663T probably benign Het
Tmem245 T A 4: 56,946,945 (GRCm39) Y156F possibly damaging Het
Uhrf1 G T 17: 56,627,542 (GRCm39) probably null Het
Unc79 T A 12: 103,134,700 (GRCm39) M2417K possibly damaging Het
Ush2a T C 1: 188,689,471 (GRCm39) V5011A probably benign Het
Virma T C 4: 11,494,840 (GRCm39) V47A possibly damaging Het
Vmn2r53 A C 7: 12,315,741 (GRCm39) S693A probably benign Het
Vps54 G A 11: 21,269,881 (GRCm39) probably benign Het
Znfx1 T C 2: 166,907,318 (GRCm39) 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
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
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'- TACTGTCACGAGAAAGGGATTG -3'
(R):5'- ATCTCATGGACTGTTGGCCTG -3'

Sequencing Primer
(F):5'- TGTCACGAGAAAGGGATTGTCCAC -3'
(R):5'- CTGTCTCCAGGGTTGACAGTCAG -3'
Posted On 2016-06-06