Incidental Mutation 'R0930:Ankrd2'
ID 80844
Institutional Source Beutler Lab
Gene Symbol Ankrd2
Ensembl Gene ENSMUSG00000025172
Gene Name ankyrin repeat domain 2
Synonyms Arpp, mArpp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0930 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 42024439-42033549 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 42032292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026172] [ENSMUST00000081714] [ENSMUST00000172244]
AlphaFold Q9WV06
Predicted Effect probably null
Transcript: ENSMUST00000026172
SMART Domains Protein: ENSMUSP00000026172
Gene: ENSMUSG00000025172

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
Predicted Effect probably benign
Transcript: ENSMUST00000081714
SMART Domains Protein: ENSMUSP00000080414
Gene: ENSMUSG00000025176

DomainStartEndE-ValueType
DHDPS 28 319 8.34e-81 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168414
Predicted Effect probably benign
Transcript: ENSMUST00000172244
SMART Domains Protein: ENSMUSP00000126037
Gene: ENSMUSG00000025176

DomainStartEndE-ValueType
Pfam:DHDPS 57 156 5.8e-11 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.5%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 G T 17: 84,990,705 (GRCm39) V16L probably benign Het
Adamts18 A T 8: 114,432,028 (GRCm39) probably null Het
Agpat4 A T 17: 12,417,723 (GRCm39) E88V probably damaging Het
Ahcyl2 A C 6: 29,870,627 (GRCm39) probably null Het
Anxa6 A T 11: 54,885,214 (GRCm39) probably null Het
Bpi A G 2: 158,103,346 (GRCm39) I114V possibly damaging Het
Cacna1c A T 6: 118,652,857 (GRCm39) I772N probably damaging Het
Cacna2d1 A G 5: 16,570,860 (GRCm39) N1045D possibly damaging Het
Caprin2 T C 6: 148,785,009 (GRCm39) probably null Het
Cars1 T A 7: 143,124,307 (GRCm39) H373L probably damaging Het
Ccdc191 G T 16: 43,751,618 (GRCm39) G316V probably damaging Het
Cd244a T A 1: 171,404,801 (GRCm39) probably null Het
Ces1a C T 8: 93,749,044 (GRCm39) D456N probably benign Het
Cul3 A T 1: 80,267,835 (GRCm39) M102K probably damaging Het
Dact1 A G 12: 71,365,234 (GRCm39) R672G probably damaging Het
Dapk1 T C 13: 60,905,262 (GRCm39) F991L probably benign Het
Dlg5 G A 14: 24,185,645 (GRCm39) P1920L probably damaging Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Exosc4 A G 15: 76,211,734 (GRCm39) I14M probably benign Het
Ezr G A 17: 7,021,398 (GRCm39) R180* probably null Het
Fcgbpl1 A T 7: 27,839,555 (GRCm39) Y456F probably damaging Het
Fyb1 A T 15: 6,668,309 (GRCm39) I501F probably damaging Het
Hdac5 G T 11: 102,095,472 (GRCm39) P383Q probably benign Het
Hmx3 A T 7: 131,144,813 (GRCm39) H41L probably benign Het
Krt36 A G 11: 99,994,225 (GRCm39) F284S probably damaging Het
L1td1 A G 4: 98,625,862 (GRCm39) N686D probably damaging Het
Lsamp G A 16: 41,709,327 (GRCm39) G86S probably benign Het
Myh8 A G 11: 67,196,824 (GRCm39) E1819G possibly damaging Het
Myo7a A T 7: 97,747,463 (GRCm39) I129N probably damaging Het
Nckap1 A T 2: 80,384,593 (GRCm39) C114S probably benign Het
Nphp4 T G 4: 152,622,512 (GRCm39) L599R probably benign Het
Nrcam A G 12: 44,596,667 (GRCm39) I301V probably benign Het
Or6b2b A G 1: 92,419,127 (GRCm39) S117P possibly damaging Het
Os9 C T 10: 126,932,924 (GRCm39) R547Q probably damaging Het
Oxtr A T 6: 112,466,598 (GRCm39) probably null Het
Pgm2 A T 5: 64,269,490 (GRCm39) I526F possibly damaging Het
Plekho2 T C 9: 65,464,105 (GRCm39) D248G possibly damaging Het
Rab43 A T 6: 87,769,752 (GRCm39) Y151* probably null Het
Rbm19 A G 5: 120,264,269 (GRCm39) E343G probably benign Het
Rel A T 11: 23,692,439 (GRCm39) D531E probably benign Het
Rfx4 T A 10: 84,704,291 (GRCm39) V262E probably damaging Het
Ryr3 A G 2: 112,672,178 (GRCm39) L1431P probably damaging Het
Sdk2 A G 11: 113,729,271 (GRCm39) I1102T probably benign Het
Sema3d A C 5: 12,513,183 (GRCm39) D51A possibly damaging Het
Sh2d4a T A 8: 68,787,775 (GRCm39) F294I probably damaging Het
Slc3a1 A G 17: 85,367,171 (GRCm39) T453A probably benign Het
Sod1 A G 16: 90,022,071 (GRCm39) D93G probably benign Het
Sptan1 A G 2: 29,906,040 (GRCm39) N1662S probably damaging Het
Stxbp4 A C 11: 90,512,526 (GRCm39) M1R probably null Het
Tbc1d7 A T 13: 43,318,812 (GRCm39) Y108* probably null Het
Ticam1 A T 17: 56,577,226 (GRCm39) V623D unknown Het
Ticam1 A G 17: 56,578,687 (GRCm39) L136P probably damaging Het
Tjap1 A C 17: 46,569,455 (GRCm39) W512G possibly damaging Het
Unc80 A T 1: 66,549,800 (GRCm39) Q686L possibly damaging Het
Wdr45b A T 11: 121,221,040 (GRCm39) F213I probably damaging Het
Xdh A C 17: 74,230,077 (GRCm39) W285G probably benign Het
Zfp646 C T 7: 127,482,982 (GRCm39) Q1500* probably null Het
Other mutations in Ankrd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01529:Ankrd2 APN 19 42,028,349 (GRCm39) missense probably damaging 0.97
IGL03088:Ankrd2 APN 19 42,030,424 (GRCm39) missense probably null 0.01
IGL03050:Ankrd2 UTSW 19 42,028,533 (GRCm39) missense probably damaging 1.00
R0133:Ankrd2 UTSW 19 42,032,510 (GRCm39) missense probably benign 0.01
R2135:Ankrd2 UTSW 19 42,032,498 (GRCm39) missense probably damaging 1.00
R2204:Ankrd2 UTSW 19 42,032,558 (GRCm39) missense probably damaging 0.98
R2205:Ankrd2 UTSW 19 42,032,558 (GRCm39) missense probably damaging 0.98
R4529:Ankrd2 UTSW 19 42,032,240 (GRCm39) missense probably benign 0.05
R4833:Ankrd2 UTSW 19 42,032,296 (GRCm39) splice site probably null
R5112:Ankrd2 UTSW 19 42,028,326 (GRCm39) missense possibly damaging 0.71
R6005:Ankrd2 UTSW 19 42,028,554 (GRCm39) missense probably damaging 1.00
R6146:Ankrd2 UTSW 19 42,028,544 (GRCm39) missense possibly damaging 0.57
R7382:Ankrd2 UTSW 19 42,033,411 (GRCm39) missense
R7556:Ankrd2 UTSW 19 42,028,839 (GRCm39) missense
R8485:Ankrd2 UTSW 19 42,030,384 (GRCm39) splice site probably null
R9200:Ankrd2 UTSW 19 42,028,871 (GRCm39) missense
R9786:Ankrd2 UTSW 19 42,033,358 (GRCm39) missense
X0063:Ankrd2 UTSW 19 42,030,842 (GRCm39) missense probably benign 0.01
Z1177:Ankrd2 UTSW 19 42,033,438 (GRCm39) missense
Z1177:Ankrd2 UTSW 19 42,028,598 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AAGCTGGAGATAGCTCTTCCACCC -3'
(R):5'- GGTTGAGTCTCACGGCATCATGTAG -3'

Sequencing Primer
(F):5'- TAGCTCTTCCACCCCAGGATAC -3'
(R):5'- TTCCTAGAATCAGTGTAGCACACAG -3'
Posted On 2013-11-07