Incidental Mutation 'R0068:Ankra2'
ID 16410
Institutional Source Beutler Lab
Gene Symbol Ankra2
Ensembl Gene ENSMUSG00000021661
Gene Name ankyrin repeat family A member 2
Synonyms
MMRRC Submission 038359-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.275) question?
Stock # R0068 (G1)
Quality Score
Status Validated
Chromosome 13
Chromosomal Location 98399584-98411262 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 98409891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 137 (Q137*)
Ref Sequence ENSEMBL: ENSMUSP00000153417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022164] [ENSMUST00000091356] [ENSMUST00000123924] [ENSMUST00000150352] [ENSMUST00000150916] [ENSMUST00000226100]
AlphaFold Q99PE2
Predicted Effect probably null
Transcript: ENSMUST00000022164
AA Change: Q297*
SMART Domains Protein: ENSMUSP00000022164
Gene: ENSMUSG00000021661
AA Change: Q297*

DomainStartEndE-ValueType
ANK 180 209 1.45e-6 SMART
ANK 213 242 1.05e-3 SMART
ANK 246 275 1.76e-5 SMART
Blast:ANK 279 308 1e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000091356
SMART Domains Protein: ENSMUSP00000088915
Gene: ENSMUSG00000021661

DomainStartEndE-ValueType
ANK 20 49 1.45e-6 SMART
ANK 53 82 1.05e-3 SMART
ANK 86 115 1.76e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123924
SMART Domains Protein: ENSMUSP00000122701
Gene: ENSMUSG00000021661

DomainStartEndE-ValueType
ANK 180 209 1.45e-6 SMART
ANK 213 242 1.05e-3 SMART
ANK 246 275 1.76e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150352
SMART Domains Protein: ENSMUSP00000117508
Gene: ENSMUSG00000021661

DomainStartEndE-ValueType
ANK 180 209 1.45e-6 SMART
ANK 213 242 1.05e-3 SMART
ANK 246 275 1.76e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150916
SMART Domains Protein: ENSMUSP00000116590
Gene: ENSMUSG00000021661

DomainStartEndE-ValueType
ANK 20 49 1.45e-6 SMART
ANK 53 82 1.05e-3 SMART
ANK 86 115 1.76e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155629
Predicted Effect probably null
Transcript: ENSMUST00000226100
AA Change: Q137*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 97.6%
  • 10x: 82.1%
  • 20x: 74.0%
Validation Efficiency 94% (83/88)
Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,036,405 (GRCm39) N568S probably damaging Het
Aldoart2 G T 12: 55,612,233 (GRCm39) E53* probably null Het
Arpc1a C T 5: 145,028,054 (GRCm39) T21I possibly damaging Het
Arvcf T C 16: 18,214,819 (GRCm39) probably benign Het
Ash1l C A 3: 88,914,624 (GRCm39) S1751R probably benign Het
Bltp1 A G 3: 37,006,370 (GRCm39) T1675A probably benign Het
Bsn C A 9: 107,989,336 (GRCm39) G2139C probably damaging Het
Cbl A T 9: 44,065,491 (GRCm39) S22T probably damaging Het
Ccdc148 T C 2: 58,717,629 (GRCm39) E530G probably benign Het
Cct3 A G 3: 88,225,772 (GRCm39) D365G probably benign Het
Cep85 A T 4: 133,881,606 (GRCm39) H332Q probably benign Het
Cwf19l1 A T 19: 44,119,938 (GRCm39) Y68N probably damaging Het
Dlc1 T A 8: 37,404,875 (GRCm39) M305L probably benign Het
Dnm1l C A 16: 16,141,883 (GRCm39) G288C probably damaging Het
Exoc7 T C 11: 116,195,732 (GRCm39) Y83C probably damaging Het
Fignl2 A T 15: 100,952,129 (GRCm39) I51N probably damaging Het
Flnb A G 14: 7,915,290 (GRCm38) N1474D possibly damaging Het
Ghrhr C T 6: 55,357,849 (GRCm39) probably benign Het
Gucy1b1 T C 3: 81,942,185 (GRCm39) T525A probably benign Het
Hhip T G 8: 80,715,885 (GRCm39) D557A probably damaging Het
Hps5 A G 7: 46,426,466 (GRCm39) probably benign Het
Igsf10 A T 3: 59,238,045 (GRCm39) V712D probably damaging Het
Irf6 G T 1: 192,848,067 (GRCm39) probably benign Het
Itpr3 T C 17: 27,323,034 (GRCm39) probably benign Het
Jag2 A G 12: 112,878,813 (GRCm39) probably benign Het
Kansl1l A G 1: 66,760,047 (GRCm39) V911A probably benign Het
Kdm3b C T 18: 34,957,827 (GRCm39) T1064I probably benign Het
Lrriq1 T A 10: 102,899,279 (GRCm39) Q1654L probably benign Het
Ltbp1 A G 17: 75,666,404 (GRCm39) T1366A probably damaging Het
Mroh1 A G 15: 76,330,892 (GRCm39) probably benign Het
Napb G A 2: 148,540,843 (GRCm39) probably benign Het
Nebl T A 2: 17,439,782 (GRCm39) R164* probably null Het
Npc1 G C 18: 12,341,424 (GRCm39) P532A probably benign Het
Nrp2 G T 1: 62,784,536 (GRCm39) K228N possibly damaging Het
Or13f5 T A 4: 52,825,503 (GRCm39) Y35* probably null Het
Plekhg1 A T 10: 3,890,502 (GRCm39) Y386F probably damaging Het
Pmfbp1 G C 8: 110,269,011 (GRCm39) probably benign Het
Poln T C 5: 34,234,432 (GRCm39) probably benign Het
Polr1c A G 17: 46,555,829 (GRCm39) V200A probably benign Het
Ppil1 A T 17: 29,471,230 (GRCm39) F92I probably damaging Het
Ptchd3 T G 11: 121,733,798 (GRCm39) L896R probably damaging Het
Rev3l A G 10: 39,700,827 (GRCm39) N1775D possibly damaging Het
Robo4 G A 9: 37,315,773 (GRCm39) R342Q probably benign Het
Rusc2 T C 4: 43,424,100 (GRCm39) probably benign Het
S100pbp T C 4: 129,038,249 (GRCm39) probably benign Het
Slc25a48 T C 13: 56,599,024 (GRCm39) V118A probably damaging Het
Slc38a10 T C 11: 120,025,679 (GRCm39) D219G probably damaging Het
Slc38a2 C T 15: 96,589,173 (GRCm39) probably null Het
Slc39a12 A G 2: 14,440,489 (GRCm39) E480G probably benign Het
Tab2 C A 10: 7,795,441 (GRCm39) R347L probably damaging Het
Tas2r123 T C 6: 132,824,955 (GRCm39) I284T possibly damaging Het
Tex9 A G 9: 72,394,051 (GRCm39) probably benign Het
Tifab A G 13: 56,324,218 (GRCm39) L75P probably damaging Het
Tmc5 T A 7: 118,233,460 (GRCm39) D91E probably benign Het
Tnks1bp1 T A 2: 84,892,696 (GRCm39) D212E probably benign Het
Ugcg A G 4: 59,217,130 (GRCm39) D218G probably benign Het
Zfp451 A T 1: 33,816,706 (GRCm39) L198I probably damaging Het
Other mutations in Ankra2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02168:Ankra2 APN 13 98,409,882 (GRCm39) splice site probably benign
IGL02807:Ankra2 APN 13 98,408,250 (GRCm39) missense probably damaging 1.00
IGL03030:Ankra2 APN 13 98,409,881 (GRCm39) splice site probably benign
R0068:Ankra2 UTSW 13 98,409,891 (GRCm39) nonsense probably null
R0302:Ankra2 UTSW 13 98,408,200 (GRCm39) missense probably damaging 1.00
R0499:Ankra2 UTSW 13 98,402,962 (GRCm39) missense probably damaging 1.00
R0729:Ankra2 UTSW 13 98,408,235 (GRCm39) missense probably damaging 1.00
R1848:Ankra2 UTSW 13 98,407,632 (GRCm39) missense probably damaging 1.00
R2185:Ankra2 UTSW 13 98,402,912 (GRCm39) missense probably damaging 0.99
R2230:Ankra2 UTSW 13 98,407,646 (GRCm39) missense probably damaging 0.99
R2232:Ankra2 UTSW 13 98,407,646 (GRCm39) missense probably damaging 0.99
R3898:Ankra2 UTSW 13 98,410,317 (GRCm39) missense probably benign 0.13
R4605:Ankra2 UTSW 13 98,402,742 (GRCm39) intron probably benign
R4855:Ankra2 UTSW 13 98,409,919 (GRCm39) missense probably damaging 1.00
R5806:Ankra2 UTSW 13 98,405,005 (GRCm39) critical splice donor site probably null
R5901:Ankra2 UTSW 13 98,407,644 (GRCm39) missense probably damaging 0.99
R6478:Ankra2 UTSW 13 98,404,950 (GRCm39) missense probably damaging 1.00
R7469:Ankra2 UTSW 13 98,402,882 (GRCm39) missense probably benign 0.01
Z1177:Ankra2 UTSW 13 98,408,785 (GRCm39) missense possibly damaging 0.73
Protein Function and Prediction

Ankra2 encodes the 313-amino acid ankyrin-repeat protein 2 (ANKRA2) that has four C-terminal ankyrin repeats (1). ANKRA2 has been proposed to facilitate endocytosis of vitamin carriers and lipoproteins in the proximal tubules of the kidney through an interaction with the endocytic receptor, megalin (2).  ANKRA2 has also been shown to be a binding partner for the α-subunit of rat large-conductance Ca2+-activated K+ channel (rSlo) at the plasma membrane (3). An association with rSlo indicates that ANKRA2 could alter the excitability of neurons by binding directly to endogenous BKCa+ channels and altering its gating kinetics (3). Yeast two-hybrid screens have identified ANKRA2 as a binding partner of histone deaceytlase 4 (HDAC4) (4) that acts as a repressor (along with HDAC4 and HDAC5) of the Aryl hydrocarbon receptor transcription factor in xenobiotic signaling pathways (5). Ankra2 generates several transcripts. Northern blot analysis determined that a 2.0-kb Ankra2 transcript is ubiquitously expressed, while a 2.7-kb transcript is expressed in the brain, spleen, lung, liver, and kidney; a 2.5-kb transcript is expressed in the testis (2). Another study in rat tissues determined by RT-PCR that rat transcripts were expressed in all tissues, with higher levels in brain subregions and testis (3). Western blot analysis determined that ANKRA2 is enriched in apical membranes of the proximal tubule (2). Immunohistochemistry determined that cytoplasmic ANKRA2 is localized along the plasma membrane (2).

References
Posted On 2013-01-20
Science Writer Anne Murray