Incidental Mutation 'R6031:Add2'
ID 480396
Institutional Source Beutler Lab
Gene Symbol Add2
Ensembl Gene ENSMUSG00000030000
Gene Name adducin 2
Synonyms 2900072M03Rik
MMRRC Submission 044203-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.275) question?
Stock # R6031 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 86005663-86101391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86075655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 268 (E268G)
Ref Sequence ENSEMBL: ENSMUSP00000145034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032069] [ENSMUST00000203196] [ENSMUST00000203279] [ENSMUST00000203366] [ENSMUST00000203724] [ENSMUST00000203786] [ENSMUST00000204059] [ENSMUST00000205034]
AlphaFold Q9QYB8
Predicted Effect probably damaging
Transcript: ENSMUST00000032069
AA Change: E268G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032069
Gene: ENSMUSG00000030000
AA Change: E268G

DomainStartEndE-ValueType
Aldolase_II 135 317 2.9e-48 SMART
coiled coil region 558 585 N/A INTRINSIC
low complexity region 687 725 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000203196
AA Change: E268G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145104
Gene: ENSMUSG00000030000
AA Change: E268G

DomainStartEndE-ValueType
Aldolase_II 135 317 2.9e-48 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203279
AA Change: E268G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145452
Gene: ENSMUSG00000030000
AA Change: E268G

DomainStartEndE-ValueType
Aldolase_II 135 289 1.77e-20 SMART
coiled coil region 310 337 N/A INTRINSIC
low complexity region 439 477 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000203366
AA Change: E268G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144849
Gene: ENSMUSG00000030000
AA Change: E268G

DomainStartEndE-ValueType
Aldolase_II 135 317 2.9e-48 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203529
Predicted Effect probably damaging
Transcript: ENSMUST00000203724
AA Change: E268G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145296
Gene: ENSMUSG00000030000
AA Change: E268G

DomainStartEndE-ValueType
Aldolase_II 135 317 2.9e-48 SMART
coiled coil region 558 585 N/A INTRINSIC
low complexity region 687 725 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000203786
AA Change: E268G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144694
Gene: ENSMUSG00000030000
AA Change: E268G

DomainStartEndE-ValueType
Aldolase_II 135 317 2.9e-48 SMART
coiled coil region 558 585 N/A INTRINSIC
low complexity region 687 725 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000204059
AA Change: E268G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145160
Gene: ENSMUSG00000030000
AA Change: E268G

DomainStartEndE-ValueType
Aldolase_II 135 317 2.9e-48 SMART
coiled coil region 558 585 N/A INTRINSIC
low complexity region 687 725 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205034
AA Change: E268G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145034
Gene: ENSMUSG00000030000
AA Change: E268G

DomainStartEndE-ValueType
Aldolase_II 135 317 2.9e-48 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 96.7%
  • 20x: 88.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the beta subunit of the adducin family. Adducins, encoded by alpha, beta and gamma genes, are heteromeric proteins that crosslink actin filaments with spectrin at the cytoskeletal membrane. This protein, primarily found in the brain and hematopoietic cells, is regulated by phosphorylation and calmodulin interactions as it promotes spectrin assembly onto actin filaments, bundles actin and caps barbed ends of actin filaments. In mouse, deficiency of this gene can lead to mild hemolytic anemia and impaired synaptic plasticity. Mutations of this gene in mouse serve as a pathophysiological model for hereditary spherocytosis and hereditary elliptocytosis. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display mild anemia with compensated hemolysis, marked alteration in osmotic fragility, predominant presence of elliptocytes in the blood and increased blood pressure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,214,084 (GRCm39) Y304H possibly damaging Het
Akr1b1 A C 6: 34,289,609 (GRCm39) V67G probably benign Het
Alms1 A T 6: 85,599,937 (GRCm39) N1588Y probably damaging Het
Arhgap23 A T 11: 97,366,965 (GRCm39) D1082V probably damaging Het
Asb6 A G 2: 30,714,207 (GRCm39) V301A probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Atg7 T A 6: 114,648,194 (GRCm39) C31S probably benign Het
Camsap2 A T 1: 136,208,176 (GRCm39) N1105K possibly damaging Het
Ccdc125 C T 13: 100,820,877 (GRCm39) probably null Het
Ccdc63 T C 5: 122,267,799 (GRCm39) I56V possibly damaging Het
Cpd T C 11: 76,681,714 (GRCm39) E1143G probably benign Het
Cpt1a T A 19: 3,421,556 (GRCm39) probably null Het
Creb3l2 A T 6: 37,311,369 (GRCm39) D473E probably benign Het
Crocc A T 4: 140,761,668 (GRCm39) probably null Het
Ctsd A T 7: 141,930,451 (GRCm39) C364S probably damaging Het
Disp2 G T 2: 118,620,275 (GRCm39) V336L probably benign Het
Efr3b A G 12: 4,017,106 (GRCm39) I782T possibly damaging Het
Fam98a A G 17: 75,846,427 (GRCm39) V230A probably damaging Het
Fat3 T A 9: 15,899,788 (GRCm39) T3082S probably benign Het
Frmd3 T C 4: 74,105,688 (GRCm39) Y445H probably damaging Het
Galt G A 4: 41,757,202 (GRCm39) R185Q probably benign Het
Gatb T C 3: 85,520,818 (GRCm39) I309T possibly damaging Het
Gfi1b G A 2: 28,503,820 (GRCm39) Q127* probably null Het
Gfpt1 C A 6: 87,063,302 (GRCm39) T563N probably damaging Het
Gria1 A G 11: 57,108,608 (GRCm39) D237G probably damaging Het
Hspbp1 A T 7: 4,666,465 (GRCm39) V305D probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Iars1 T C 13: 49,859,307 (GRCm39) V9A probably damaging Het
Ipo4 G A 14: 55,869,596 (GRCm39) P355S probably damaging Het
Jade2 G T 11: 51,717,413 (GRCm39) C314* probably null Het
Kri1 T C 9: 21,186,565 (GRCm39) E597G probably benign Het
Mcub A G 3: 129,720,038 (GRCm39) Y152H probably damaging Het
Med23 C T 10: 24,779,646 (GRCm39) R542* probably null Het
Ndc80 T C 17: 71,818,483 (GRCm39) N291S probably benign Het
Nop2 T C 6: 125,110,529 (GRCm39) probably null Het
Nrxn1 T C 17: 90,896,218 (GRCm39) N984S probably damaging Het
Ntm A C 9: 28,920,671 (GRCm39) L86R probably damaging Het
Numa1 T A 7: 101,661,219 (GRCm39) D1847E possibly damaging Het
Odf2l A G 3: 144,845,624 (GRCm39) Q334R probably damaging Het
Or10ak11 A T 4: 118,687,588 (GRCm39) probably null Het
Or2ag2 C T 7: 106,485,134 (GRCm39) V297I possibly damaging Het
Or4a39 T A 2: 89,237,316 (GRCm39) T36S probably damaging Het
Or5ac17 T C 16: 59,036,296 (GRCm39) R227G probably benign Het
Or6ae1 A T 7: 139,742,722 (GRCm39) V47E possibly damaging Het
Or6c203 A G 10: 129,010,224 (GRCm39) V222A probably benign Het
Pacc1 A G 1: 191,073,037 (GRCm39) R153G probably benign Het
Pcdhb19 A T 18: 37,630,776 (GRCm39) K190N probably damaging Het
Pdik1l A G 4: 134,006,352 (GRCm39) F197L probably damaging Het
Rnf113a2 T C 12: 84,464,764 (GRCm39) F219L probably damaging Het
Rnf208 A C 2: 25,133,776 (GRCm39) T157P probably damaging Het
Scn8a A T 15: 100,881,865 (GRCm39) D644V probably damaging Het
Thbs3 T A 3: 89,125,401 (GRCm39) C204S probably damaging Het
Tlr3 A G 8: 45,851,565 (GRCm39) I444T probably damaging Het
Trpm8 A T 1: 88,282,191 (GRCm39) I696F possibly damaging Het
Ttn A T 2: 76,660,941 (GRCm39) V7422D possibly damaging Het
Ufl1 A G 4: 25,278,038 (GRCm39) V139A probably benign Het
Uggt2 A T 14: 119,308,238 (GRCm39) V381D probably benign Het
Vgll3 T A 16: 65,636,367 (GRCm39) Y173N probably damaging Het
Vmn1r9 A G 6: 57,048,158 (GRCm39) T78A probably benign Het
Vps13b T A 15: 35,472,114 (GRCm39) L806M probably damaging Het
Vps13d A C 4: 144,895,079 (GRCm39) H394Q probably benign Het
Wdr53 T A 16: 32,075,536 (GRCm39) V247D probably damaging Het
Wdr81 A T 11: 75,338,695 (GRCm39) L1488Q probably damaging Het
Zc3h6 A G 2: 128,809,732 (GRCm39) D3G possibly damaging Het
Zfp93 G T 7: 23,975,725 (GRCm39) C570F probably damaging Het
Zfp943 C T 17: 22,212,357 (GRCm39) T481I probably benign Het
Other mutations in Add2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02689:Add2 APN 6 86,084,388 (GRCm39) missense possibly damaging 0.94
IGL02799:Add2 UTSW 6 86,083,234 (GRCm39) missense possibly damaging 0.65
R0012:Add2 UTSW 6 86,075,610 (GRCm39) missense probably damaging 0.98
R0448:Add2 UTSW 6 86,069,901 (GRCm39) missense probably benign 0.05
R0452:Add2 UTSW 6 86,081,611 (GRCm39) nonsense probably null
R0834:Add2 UTSW 6 86,063,899 (GRCm39) missense probably damaging 0.99
R1220:Add2 UTSW 6 86,063,982 (GRCm39) missense possibly damaging 0.92
R1598:Add2 UTSW 6 86,075,628 (GRCm39) missense probably benign 0.03
R1806:Add2 UTSW 6 86,095,639 (GRCm39) missense probably damaging 0.96
R1837:Add2 UTSW 6 86,095,540 (GRCm39) missense probably damaging 1.00
R1959:Add2 UTSW 6 86,073,738 (GRCm39) missense probably damaging 1.00
R1961:Add2 UTSW 6 86,073,738 (GRCm39) missense probably damaging 1.00
R2152:Add2 UTSW 6 86,075,580 (GRCm39) missense probably damaging 1.00
R2309:Add2 UTSW 6 86,073,783 (GRCm39) missense probably damaging 1.00
R4744:Add2 UTSW 6 86,087,870 (GRCm39) missense probably damaging 1.00
R4789:Add2 UTSW 6 86,095,752 (GRCm39) missense probably benign 0.04
R4896:Add2 UTSW 6 86,073,728 (GRCm39) missense probably benign 0.03
R4989:Add2 UTSW 6 86,087,840 (GRCm39) missense probably benign 0.10
R5004:Add2 UTSW 6 86,073,728 (GRCm39) missense probably benign 0.03
R5061:Add2 UTSW 6 86,064,029 (GRCm39) splice site probably null
R5068:Add2 UTSW 6 86,084,440 (GRCm39) missense probably damaging 0.97
R5405:Add2 UTSW 6 86,078,179 (GRCm39) missense probably benign 0.09
R5418:Add2 UTSW 6 86,087,894 (GRCm39) missense probably benign 0.00
R5576:Add2 UTSW 6 86,084,457 (GRCm39) critical splice donor site probably null
R5952:Add2 UTSW 6 86,086,728 (GRCm39) missense probably damaging 1.00
R6011:Add2 UTSW 6 86,075,607 (GRCm39) missense probably damaging 1.00
R6031:Add2 UTSW 6 86,075,655 (GRCm39) missense probably damaging 1.00
R7026:Add2 UTSW 6 86,063,965 (GRCm39) missense probably benign 0.39
R7158:Add2 UTSW 6 86,062,934 (GRCm39) missense probably damaging 1.00
R7387:Add2 UTSW 6 86,062,997 (GRCm39) missense probably damaging 1.00
R7393:Add2 UTSW 6 86,075,629 (GRCm39) nonsense probably null
R7487:Add2 UTSW 6 86,070,432 (GRCm39) missense possibly damaging 0.94
R7511:Add2 UTSW 6 86,075,597 (GRCm39) missense probably benign
R7543:Add2 UTSW 6 86,083,207 (GRCm39) missense probably damaging 1.00
R8186:Add2 UTSW 6 86,085,002 (GRCm39) missense probably benign 0.44
R8205:Add2 UTSW 6 86,063,899 (GRCm39) missense probably damaging 0.99
R9151:Add2 UTSW 6 86,081,459 (GRCm39) splice site probably benign
R9792:Add2 UTSW 6 86,078,135 (GRCm39) critical splice acceptor site probably null
R9793:Add2 UTSW 6 86,078,135 (GRCm39) critical splice acceptor site probably null
Z1088:Add2 UTSW 6 86,062,947 (GRCm39) missense probably damaging 0.98
Z1176:Add2 UTSW 6 86,075,572 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-06-26