Incidental Mutation 'IGL02799:Add2'
ID 392269
Institutional Source Beutler Lab
Gene Symbol Add2
Ensembl Gene ENSMUSG00000030000
Gene Name adducin 2
Synonyms 2900072M03Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.275) question?
Stock # IGL02799 (G1)
Quality Score 140
Status Validated
Chromosome 6
Chromosomal Location 86005663-86101391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86083234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 444 (N444S)
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 possibly damaging
Transcript: ENSMUST00000032069
AA Change: N444S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032069
Gene: ENSMUSG00000030000
AA Change: N444S

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 possibly damaging
Transcript: ENSMUST00000203196
AA Change: N444S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145104
Gene: ENSMUSG00000030000
AA Change: N444S

DomainStartEndE-ValueType
Aldolase_II 135 317 2.9e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203279
SMART Domains Protein: ENSMUSP00000145452
Gene: ENSMUSG00000030000

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 possibly damaging
Transcript: ENSMUST00000203366
AA Change: N444S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144849
Gene: ENSMUSG00000030000
AA Change: N444S

DomainStartEndE-ValueType
Aldolase_II 135 317 2.9e-48 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000203724
AA Change: N444S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145296
Gene: ENSMUSG00000030000
AA Change: N444S

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 possibly damaging
Transcript: ENSMUST00000203786
AA Change: N444S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144694
Gene: ENSMUSG00000030000
AA Change: N444S

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 possibly damaging
Transcript: ENSMUST00000204059
AA Change: N444S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145160
Gene: ENSMUSG00000030000
AA Change: N444S

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 possibly damaging
Transcript: ENSMUST00000205034
AA Change: N444S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145034
Gene: ENSMUSG00000030000
AA Change: N444S

DomainStartEndE-ValueType
Aldolase_II 135 317 2.9e-48 SMART
Meta Mutation Damage Score 0.0728 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G probably benign Het
Other mutations in Add2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02689:Add2 APN 6 86,084,388 (GRCm39) missense possibly damaging 0.94
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
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'- GAACAGGCTATACGTACCGC -3'
(R):5'- TGCCTTAAACCTCAATACAGGGG -3'

Sequencing Primer
(F):5'- GCCACCCCTTTGTCCAAGAG -3'
(R):5'- CCTCAATACAGGGGCACTAG -3'
Posted On 2016-06-09