Incidental Mutation 'R0834:Add2'
ID 77719
Institutional Source Beutler Lab
Gene Symbol Add2
Ensembl Gene ENSMUSG00000030000
Gene Name adducin 2
Synonyms 2900072M03Rik
MMRRC Submission 039013-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.275) question?
Stock # R0834 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 86005663-86101391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86063899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 66 (E66V)
Ref Sequence ENSEMBL: ENSMUSP00000145034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032069] [ENSMUST00000203196] [ENSMUST00000203279] [ENSMUST00000203366] [ENSMUST00000203445] [ENSMUST00000205034] [ENSMUST00000204059] [ENSMUST00000203724] [ENSMUST00000203786]
AlphaFold Q9QYB8
Predicted Effect probably damaging
Transcript: ENSMUST00000032069
AA Change: E66V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032069
Gene: ENSMUSG00000030000
AA Change: E66V

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: E66V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145104
Gene: ENSMUSG00000030000
AA Change: E66V

DomainStartEndE-ValueType
Aldolase_II 135 317 2.9e-48 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203279
AA Change: E66V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145452
Gene: ENSMUSG00000030000
AA Change: E66V

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: E66V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144849
Gene: ENSMUSG00000030000
AA Change: E66V

DomainStartEndE-ValueType
Aldolase_II 135 317 2.9e-48 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000203445
AA Change: E66V

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145494
Gene: ENSMUSG00000030000
AA Change: E66V

DomainStartEndE-ValueType
Pfam:Aldolase_II 135 184 7.3e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203529
Predicted Effect probably damaging
Transcript: ENSMUST00000205034
AA Change: E66V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145034
Gene: ENSMUSG00000030000
AA Change: E66V

DomainStartEndE-ValueType
Aldolase_II 135 317 2.9e-48 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000204059
AA Change: E66V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145160
Gene: ENSMUSG00000030000
AA Change: E66V

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: ENSMUST00000203724
AA Change: E66V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145296
Gene: ENSMUSG00000030000
AA Change: E66V

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: E66V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144694
Gene: ENSMUSG00000030000
AA Change: E66V

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 noncoding transcript
Transcript: ENSMUST00000203624
Meta Mutation Damage Score 0.4362 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (86/86)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a3 T C 7: 66,062,658 (GRCm39) I156V probably benign Het
Ang4 T A 14: 52,001,725 (GRCm39) K74N probably benign Het
Arcn1 A T 9: 44,670,172 (GRCm39) probably benign Het
Arhgef33 T A 17: 80,655,026 (GRCm39) probably benign Het
Atn1 A G 6: 124,720,188 (GRCm39) probably benign Het
Bmal2 A G 6: 146,724,185 (GRCm39) H359R probably damaging Het
Bmerb1 T C 16: 13,911,795 (GRCm39) L47P probably damaging Het
Brip1 T C 11: 86,083,653 (GRCm39) T123A probably benign Het
Camkv A G 9: 107,823,045 (GRCm39) Y95C probably damaging Het
Cdk12 T A 11: 98,095,211 (GRCm39) S340T probably benign Het
Ckap2l G A 2: 129,138,224 (GRCm39) probably benign Het
Clmn A T 12: 104,738,085 (GRCm39) L1042Q probably damaging Het
Clmn G T 12: 104,738,086 (GRCm39) L1042M probably damaging Het
Cluh T C 11: 74,554,631 (GRCm39) V737A probably benign Het
Cpne8 A G 15: 90,424,462 (GRCm39) V309A probably benign Het
Cpxm2 T A 7: 131,756,342 (GRCm39) probably benign Het
Csmd3 A T 15: 47,747,073 (GRCm39) probably benign Het
Ctr9 T A 7: 110,650,159 (GRCm39) S818T probably benign Het
Cyp26a1 C T 19: 37,688,405 (GRCm39) A309V probably damaging Het
Dbndd2 C T 2: 164,332,122 (GRCm39) T115I possibly damaging Het
Dhcr7 A G 7: 143,394,964 (GRCm39) N157S probably benign Het
Dlx2 C A 2: 71,375,859 (GRCm39) V155F probably damaging Het
Duox1 A T 2: 122,176,982 (GRCm39) I1470F probably damaging Het
Esrrb A T 12: 86,517,071 (GRCm39) I68F probably benign Het
Fhod3 T A 18: 25,248,862 (GRCm39) L1347* probably null Het
Fip1l1 T C 5: 74,755,721 (GRCm39) probably benign Het
Frem3 A G 8: 81,413,637 (GRCm39) Y1966C probably damaging Het
Gatd3a T C 10: 77,998,539 (GRCm39) D229G probably damaging Het
Ggt5 C T 10: 75,440,604 (GRCm39) R242C possibly damaging Het
Gm14496 G A 2: 181,637,480 (GRCm39) V185I probably benign Het
Gnptab T C 10: 88,265,814 (GRCm39) V409A probably damaging Het
Gramd1a A G 7: 30,837,589 (GRCm39) F390S possibly damaging Het
Helz2 A G 2: 180,872,570 (GRCm39) S2477P probably damaging Het
Hsd17b3 T C 13: 64,236,936 (GRCm39) K3E probably benign Het
Ift172 T C 5: 31,414,715 (GRCm39) H1395R probably benign Het
Jam2 T A 16: 84,609,855 (GRCm39) C180S probably damaging Het
Kalrn A C 16: 33,870,289 (GRCm39) S160A possibly damaging Het
Kcnk3 T C 5: 30,779,979 (GRCm39) I343T probably damaging Het
Kif13a T C 13: 46,967,712 (GRCm39) E334G probably damaging Het
Klhl41 A G 2: 69,508,491 (GRCm39) K482E possibly damaging Het
Lig3 A G 11: 82,689,113 (GRCm39) E794G probably damaging Het
Myh13 T C 11: 67,240,436 (GRCm39) M780T possibly damaging Het
Ndst2 A G 14: 20,779,761 (GRCm39) Y160H probably damaging Het
Ndufb10 T C 17: 24,941,648 (GRCm39) M90V probably damaging Het
Obscn T C 11: 59,024,104 (GRCm39) K522R probably benign Het
Olfml2b T C 1: 170,475,413 (GRCm39) S113P probably benign Het
Or14a257 T A 7: 86,138,698 (GRCm39) E20D probably benign Het
Or4a78 A G 2: 89,497,423 (GRCm39) I269T probably benign Het
Or4d10b T A 19: 12,036,979 (GRCm39) M46L probably benign Het
Or51v14 T C 7: 103,261,444 (GRCm39) T39A probably benign Het
Or6k2 T A 1: 173,986,930 (GRCm39) M197K possibly damaging Het
Parg T C 14: 31,936,511 (GRCm39) probably benign Het
Pde7a C T 3: 19,284,482 (GRCm39) C367Y probably damaging Het
Pigr T A 1: 130,772,281 (GRCm39) C166* probably null Het
Pip4k2c A T 10: 127,036,704 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prkd2 A T 7: 16,599,602 (GRCm39) probably benign Het
Ptprt G T 2: 161,654,059 (GRCm39) probably null Het
Rapgef5 C T 12: 117,610,741 (GRCm39) probably benign Het
Retreg1 T C 15: 25,971,756 (GRCm39) L356P probably benign Het
Rigi T A 4: 40,239,596 (GRCm39) E34V possibly damaging Het
Rnf43 A G 11: 87,622,077 (GRCm39) T393A probably benign Het
Samd3 T C 10: 26,147,725 (GRCm39) S467P probably benign Het
Scarf1 C A 11: 75,405,229 (GRCm39) C89* probably null Het
Sdk1 T C 5: 141,227,779 (GRCm39) L59S probably benign Het
Sgca C T 11: 94,861,512 (GRCm39) W244* probably null Het
Sh3d21 T C 4: 126,045,065 (GRCm39) K538R probably benign Het
Smyd4 T A 11: 75,281,958 (GRCm39) L477Q possibly damaging Het
Sra1 A G 18: 36,801,829 (GRCm39) M87T probably benign Het
Ssh2 T C 11: 77,328,459 (GRCm39) Y336H possibly damaging Het
Steap1 T C 5: 5,790,357 (GRCm39) Y197C probably damaging Het
Strn3 A G 12: 51,673,879 (GRCm39) probably benign Het
Tgm3 A G 2: 129,868,677 (GRCm39) T205A probably benign Het
Tll2 G A 19: 41,101,512 (GRCm39) T374I probably damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Trim10 G A 17: 37,183,283 (GRCm39) S193N probably benign Het
Ttf1 A T 2: 28,963,962 (GRCm39) K613* probably null Het
Tube1 T A 10: 39,010,168 (GRCm39) probably null Het
Uimc1 T A 13: 55,224,222 (GRCm39) probably null Het
Wwp2 G T 8: 108,283,428 (GRCm39) probably benign Het
Zfp101 C T 17: 33,601,418 (GRCm39) V113I probably benign Het
Zfp292 T C 4: 34,809,114 (GRCm39) D1310G probably benign Het
Zfp575 A T 7: 24,285,245 (GRCm39) L132H probably damaging Het
Zmym2 T C 14: 57,194,420 (GRCm39) F1226S probably damaging Het
Zswim6 A C 13: 107,862,989 (GRCm39) noncoding transcript 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
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
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 PCR Primer
(F):5'- AAGAGCTGGAAGAGCAATCCCCTG -3'
(R):5'- TGCCTAGCAACCAAGCTGCATC -3'

Sequencing Primer
(F):5'- GAGCAATCCCCTGGCTACTTG -3'
(R):5'- CAAGCTGCATCCGGCAC -3'
Posted On 2013-10-16