Incidental Mutation 'R0240:Adck2'
ID65843
Institutional Source Beutler Lab
Gene Symbol Adck2
Ensembl Gene ENSMUSG00000046947
Gene NameaarF domain containing kinase 2
Synonyms
MMRRC Submission 038478-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0240 (G1)
Quality Score225
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: 98.7%
  • 3x: 97.3%
  • 10x: 91.2%
  • 20x: 69.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 T C 8: 122,780,181 L71P probably damaging Het
Adamts2 A T 11: 50,775,374 D399V probably damaging Het
Ankrd27 T A 7: 35,619,439 L585Q probably damaging Het
Atp7a T A X: 106,109,841 N1117K probably damaging Het
Cacna1d T A 14: 30,096,969 M1210L probably benign Het
Cotl1 C T 8: 119,840,324 W26* probably null Het
Csmd3 T C 15: 47,629,239 T3000A probably benign Het
Ddhd2 A T 8: 25,739,590 probably null Het
Dnah8 T C 17: 30,765,679 I3117T probably damaging Het
Dnm3 G T 1: 162,353,625 Q162K probably benign Het
Dpy19l2 G T 9: 24,658,580 A359D probably damaging Het
Eif4g3 A G 4: 138,170,562 K1025R probably damaging Het
Eml2 C A 7: 19,184,872 Y82* probably null Het
Eml6 A G 11: 29,792,367 V1057A possibly damaging Het
Espl1 T C 15: 102,312,541 S911P probably benign Het
Flrt1 A T 19: 7,097,110 probably benign Het
G3bp1 G A 11: 55,492,028 G139D probably damaging Het
Galc A T 12: 98,252,034 H186Q probably damaging Het
Ganab A G 19: 8,912,813 D702G possibly damaging Het
Hdac10 T C 15: 89,125,882 E291G possibly damaging Het
Hectd3 T G 4: 117,002,613 V749G probably damaging Het
Kcnh1 T A 1: 192,505,340 I703N probably benign Het
Kcnma1 G A 14: 23,494,579 T505I probably damaging Het
Kctd11 A G 11: 69,879,814 C133R probably damaging Het
Lama3 A T 18: 12,539,823 probably null Het
Lamb3 T C 1: 193,335,027 L842P probably damaging Het
Lipk G A 19: 34,046,810 R336H probably benign Het
Lrrc24 T A 15: 76,723,209 D58V probably damaging Het
Milr1 G A 11: 106,754,896 W88* probably null Het
Mmp10 A G 9: 7,506,543 D340G probably damaging Het
Mybpc1 T A 10: 88,555,738 Y285F possibly damaging Het
Ncoa3 A G 2: 166,054,400 T408A probably benign Het
Nefm T A 14: 68,121,134 K484* probably null Het
Nfasc A G 1: 132,601,983 S814P probably damaging Het
Nlrp4a T C 7: 26,462,516 V863A probably benign Het
Nos1 C T 5: 117,867,883 P223S probably benign Het
Olfr1213 A T 2: 88,973,396 L165Q probably damaging Het
Olfr1440 A T 19: 12,394,963 E233D probably benign Het
Olfr155 T A 4: 43,854,512 S68T probably damaging Het
Olfr228 A G 2: 86,483,386 S119P possibly damaging Het
Otog C A 7: 46,264,032 probably null Het
Pacs1 A T 19: 5,156,374 I261N possibly damaging Het
Pbx1 G A 1: 168,203,482 T189I possibly damaging Het
Pcnx T C 12: 81,947,018 I908T possibly damaging Het
Pdxdc1 A T 16: 13,879,445 W124R probably damaging Het
Phex C A X: 157,186,218 D587Y probably damaging Het
Plcb3 A T 19: 6,962,995 D435E probably benign Het
Plce1 A C 19: 38,728,886 K1373T probably damaging Het
Prkcd G A 14: 30,602,088 A311V probably damaging Het
Ptpn3 A T 4: 57,232,374 S421T probably benign Het
Ptprs T C 17: 56,436,087 probably null Het
Qrich1 A G 9: 108,534,134 D286G probably damaging Het
Rcc1 C A 4: 132,332,915 G393V probably damaging Het
Reln T C 5: 22,106,045 N290S probably benign Het
Rhpn1 C T 15: 75,714,122 T628I probably benign Het
Rnf224 T C 2: 25,236,207 T45A probably damaging Het
Rpa1 A G 11: 75,328,687 V137A probably benign Het
Rps6ka1 C A 4: 133,848,531 Q693H probably benign Het
Scn2a G T 2: 65,735,774 V1381F probably benign Het
Scp2 T A 4: 108,098,078 H112L probably benign Het
Sdk1 T C 5: 141,998,747 W696R probably damaging Het
Slc26a7 C A 4: 14,532,651 V408F probably damaging Het
Slc28a2 T A 2: 122,454,527 I332N probably benign Het
Slc45a4 T A 15: 73,581,906 E674D probably benign Het
Smpd3 T C 8: 106,265,156 E255G probably damaging Het
Snx29 C T 16: 11,660,553 R658W probably damaging Het
Sppl2a A T 2: 126,920,336 M275K probably benign Het
Stac T C 9: 111,635,021 N59S probably damaging Het
Stk25 A T 1: 93,627,060 L131Q probably damaging Het
Thbs1 C A 2: 118,114,393 N229K probably damaging Het
Tmx2 A T 2: 84,675,842 H89Q probably damaging Het
Trappc3l A T 10: 34,098,932 R119* probably null Het
Ublcp1 G T 11: 44,458,277 Y243* probably null Het
Usp24 C A 4: 106,414,404 C2158* probably null Het
Usp34 A T 11: 23,433,206 K2088N probably damaging Het
Vmn1r53 G C 6: 90,223,943 S133C probably damaging Het
Vmn2r52 A G 7: 10,159,400 V604A probably damaging Het
Vmn2r93 A G 17: 18,304,799 K240E probably benign Het
Wdr13 T G X: 8,128,045 D242A probably damaging Het
Wwp1 C T 4: 19,641,734 probably null Het
Zan G A 5: 137,398,362 H4311Y unknown Het
Zc3h12c C A 9: 52,144,083 R123L possibly damaging Het
Zfp318 C T 17: 46,396,813 P266S probably benign 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
R0241: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
R8775:Adck2 UTSW 6 39575208 critical splice donor site probably null
R8775-TAIL:Adck2 UTSW 6 39575208 critical splice donor site probably null
Z1177:Adck2 UTSW 6 39574088 unclassified probably benign
Predicted Primers
Posted On2013-08-19