Incidental Mutation 'R0241:Adck2'
ID66180
Institutional Source Beutler Lab
Gene Symbol Adck2
Ensembl Gene ENSMUSG00000046947
Gene NameaarF domain containing kinase 2
Synonyms
MMRRC Submission 038479-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0241 (G1)
Quality Score82
Status Not validated
Chromosome6
Chromosomal Location39573873-39588769 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 39583818 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 380 (V380E)
Ref Sequence ENSEMBL: ENSMUSP00000050256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051249] [ENSMUST00000140364] [ENSMUST00000145788]
Predicted Effect probably benign
Transcript: ENSMUST00000051249
AA Change: V380E

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000050256
Gene: ENSMUSG00000046947
AA Change: V380E

DomainStartEndE-ValueType
low complexity region 90 124 N/A INTRINSIC
low complexity region 502 518 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134913
Predicted Effect probably benign
Transcript: ENSMUST00000140364
AA Change: V429E

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123563
Gene: ENSMUSG00000046947
AA Change: V429E

DomainStartEndE-ValueType
low complexity region 90 124 N/A INTRINSIC
Pfam:ABC1 289 380 5.4e-18 PFAM
low complexity region 551 567 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145788
AA Change: V116E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000144149
Gene: ENSMUSG00000046947
AA Change: V116E

DomainStartEndE-ValueType
Pfam:ABC1 1 67 4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149304
SMART Domains Protein: ENSMUSP00000121590
Gene: ENSMUSG00000046947

DomainStartEndE-ValueType
Pfam:ABC1 1 69 1.4e-11 PFAM
Meta Mutation Damage Score 0.1707 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.1%
  • 10x: 89.8%
  • 20x: 65.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A T 2: 128,628,629 M1527K possibly damaging Het
Bicra A T 7: 15,975,145 M1188K probably damaging Het
Brd7 G A 8: 88,345,850 R331W probably benign Het
Cactin A G 10: 81,322,652 T151A probably benign Het
Cadps G A 14: 12,376,675 T1274M probably damaging Het
Catsper3 T C 13: 55,804,854 M175T probably damaging Het
Chd5 A G 4: 152,366,132 D605G probably damaging Het
Chst12 G A 5: 140,524,299 R227H possibly damaging Het
Cobl A T 11: 12,254,524 V644E probably benign Het
Ddx31 A G 2: 28,848,291 T155A probably damaging Het
Dnah3 T C 7: 119,922,730 Q4069R probably damaging Het
Dnah8 T C 17: 30,765,679 I3117T probably damaging Het
Doc2b A G 11: 75,772,561 V355A probably damaging Het
Dock10 A T 1: 80,578,623 S578T probably benign Het
Fcer2a A G 8: 3,688,796 probably null Het
Fmnl1 G A 11: 103,182,170 probably null Het
Git2 T C 5: 114,733,229 E208G probably damaging Het
Hs6st3 T C 14: 119,138,820 F136L probably benign Het
Hydin G A 8: 110,398,023 V555I probably benign Het
Kmt2b A G 7: 30,577,069 L1726S probably damaging Het
Loxl3 A G 6: 83,050,133 D615G probably damaging Het
Nfasc C A 1: 132,636,993 A70S probably benign Het
Olfr1182 A T 2: 88,446,545 M131K possibly damaging Het
Olfr464 T A 11: 87,914,034 N291Y probably damaging Het
Olfr658 A G 7: 104,645,243 M41T probably benign Het
Olfr998 A G 2: 85,590,810 K90R probably benign Het
Pde7b A G 10: 20,436,216 C239R probably damaging Het
Pdzd2 A T 15: 12,367,941 L2654Q probably damaging Het
Pgap1 T C 1: 54,535,951 probably null Het
Proz T A 8: 13,065,356 M124K probably benign Het
Raet1d A G 10: 22,371,429 T135A probably benign Het
Rapgef1 A G 2: 29,702,670 N558S possibly damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 probably benign Het
Simc1 G T 13: 54,550,525 L1319F probably damaging Het
Sspo A G 6: 48,461,495 E1499G possibly damaging Het
Tas2r118 T C 6: 23,969,339 Y241C probably damaging Het
Tbck A G 3: 132,724,875 E344G probably benign Het
Tcam1 G A 11: 106,284,078 E120K probably benign Het
Tmbim7 A T 5: 3,666,866 Y66F probably benign Het
Vil1 T C 1: 74,426,694 L548P probably damaging Het
Wdr3 A G 3: 100,145,657 V593A probably damaging Het
Zan T C 5: 137,421,822 T2858A unknown Het
Zbtb37 A T 1: 161,020,369 V356E probably benign Het
Zfp36 C T 7: 28,378,334 V50I probably damaging Het
Zfp563 A T 17: 33,104,685 S85C possibly damaging Het
Other mutations in Adck2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:Adck2 APN 6 39583920 missense probably benign 0.02
IGL02369:Adck2 APN 6 39574744 missense probably damaging 0.97
IGL02956:Adck2 APN 6 39576502 missense probably benign 0.11
R0240:Adck2 UTSW 6 39583818 missense probably benign 0.10
R0240:Adck2 UTSW 6 39583818 missense probably benign 0.10
R0241:Adck2 UTSW 6 39583818 missense probably benign 0.10
R1107:Adck2 UTSW 6 39585785 missense possibly damaging 0.91
R1691:Adck2 UTSW 6 39574968 nonsense probably null
R2125:Adck2 UTSW 6 39575142 missense probably benign 0.00
R2206:Adck2 UTSW 6 39583839 missense probably damaging 1.00
R2422:Adck2 UTSW 6 39583998 missense possibly damaging 0.61
R4795:Adck2 UTSW 6 39576393 missense probably benign 0.02
R5556:Adck2 UTSW 6 39583935 missense probably benign 0.02
R6402:Adck2 UTSW 6 39586869 missense possibly damaging 0.84
R6824:Adck2 UTSW 6 39575124 missense probably benign 0.00
R6927:Adck2 UTSW 6 39584064 critical splice donor site probably null
R7163:Adck2 UTSW 6 39583863 missense probably damaging 0.99
R8249:Adck2 UTSW 6 39585733 nonsense probably null
Z1177:Adck2 UTSW 6 39574088 unclassified probably benign
Predicted Primers
Posted On2013-08-19