Incidental Mutation 'IGL01529:Ankrd2'
ID89680
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd2
Ensembl Gene ENSMUSG00000025172
Gene Nameankyrin repeat domain 2 (stretch responsive muscle)
SynonymsmArpp, Arpp
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01529
Quality Score
Status
Chromosome19
Chromosomal Location42036038-42045110 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 42039910 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 46 (K46E)
Ref Sequence ENSEMBL: ENSMUSP00000026172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026172]
Predicted Effect probably damaging
Transcript: ENSMUST00000026172
AA Change: K46E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026172
Gene: ENSMUSG00000025172
AA Change: K46E

DomainStartEndE-ValueType
low complexity region 104 111 N/A INTRINSIC
ANK 149 178 5.24e-4 SMART
ANK 182 211 5.79e-6 SMART
ANK 215 244 1.33e-5 SMART
ANK 248 277 3.18e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile and free of cardiac defects but exhibit altered inflammatory responses and are prone to skeletal muscle fiber-type switching of slow fibers toward a faster phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c A T 7: 84,151,414 I144N possibly damaging Het
Adamts19 T A 18: 58,963,463 H588Q probably damaging Het
Arhgap10 A C 8: 77,346,291 L513V possibly damaging Het
Arhgef12 C A 9: 42,990,055 R817L probably damaging Het
Asxl3 T A 18: 22,517,655 N900K probably damaging Het
Atp9b A T 18: 80,844,611 probably benign Het
Cdc27 T C 11: 104,507,216 N773D probably damaging Het
Cep97 A G 16: 55,930,618 probably benign Het
Ddx58 G A 4: 40,225,685 H194Y probably benign Het
Dgkd T C 1: 87,880,411 F67S probably damaging Het
Dolk T C 2: 30,285,737 T99A probably benign Het
Egfr A T 11: 16,863,014 R165W probably benign Het
Fat2 T A 11: 55,282,156 D2577V probably damaging Het
Hsph1 T C 5: 149,636,034 I15V probably benign Het
Idh2 T C 7: 80,097,945 T276A probably benign Het
Jag1 T C 2: 137,084,977 Y954C probably damaging Het
Kat2a A T 11: 100,711,909 W118R probably damaging Het
Kcnh6 G T 11: 106,020,696 R636L probably benign Het
Klk1b16 G T 7: 44,140,739 K144N probably benign Het
Lrrk2 T A 15: 91,812,313 L2435I possibly damaging Het
Ltbp3 A G 19: 5,747,839 D502G probably benign Het
Ltn1 A T 16: 87,381,471 N1623K probably benign Het
Mcm10 C A 2: 5,008,628 E64D probably benign Het
Med13l A G 5: 118,742,335 N1164S probably damaging Het
Myo1a A G 10: 127,720,660 N1025D probably benign Het
Olfr164 A T 16: 19,286,700 D14E probably benign Het
Olfr944 C T 9: 39,218,131 T258I probably benign Het
Pdcd11 A G 19: 47,109,629 N785D probably benign Het
Psmd8 A T 7: 29,179,151 I81N probably damaging Het
Ryr1 C T 7: 29,075,227 G2330R probably damaging Het
Scrib T C 15: 76,049,235 T80A possibly damaging Het
Sergef A T 7: 46,443,518 W356R probably damaging Het
Slc22a19 T C 19: 7,682,935 N370S probably damaging Het
Syde1 A G 10: 78,590,181 S51P probably benign Het
Umodl1 A T 17: 30,996,259 D1019V possibly damaging Het
Vmn2r45 A G 7: 8,483,494 M265T probably benign Het
Other mutations in Ankrd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03088:Ankrd2 APN 19 42041985 missense probably null 0.01
IGL03050:Ankrd2 UTSW 19 42040094 missense probably damaging 1.00
R0133:Ankrd2 UTSW 19 42044071 missense probably benign 0.01
R0930:Ankrd2 UTSW 19 42043853 critical splice donor site probably null
R2135:Ankrd2 UTSW 19 42044059 missense probably damaging 1.00
R2204:Ankrd2 UTSW 19 42044119 missense probably damaging 0.98
R2205:Ankrd2 UTSW 19 42044119 missense probably damaging 0.98
R4529:Ankrd2 UTSW 19 42043801 missense probably benign 0.05
R4833:Ankrd2 UTSW 19 42043857 splice site probably null
R5112:Ankrd2 UTSW 19 42039887 missense possibly damaging 0.71
R6005:Ankrd2 UTSW 19 42040115 missense probably damaging 1.00
R6146:Ankrd2 UTSW 19 42040105 missense possibly damaging 0.57
R7382:Ankrd2 UTSW 19 42044972 missense
R7556:Ankrd2 UTSW 19 42040400 missense
X0063:Ankrd2 UTSW 19 42042403 missense probably benign 0.01
Z1177:Ankrd2 UTSW 19 42040159 missense
Z1177:Ankrd2 UTSW 19 42044999 missense
Posted On2013-12-03