Incidental Mutation 'R4789:Add2'
ID 367312
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 # R4789 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 86005663-86101391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86095752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 475 (V475M)
Ref Sequence ENSEMBL: ENSMUSP00000145452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032069] [ENSMUST00000203279] [ENSMUST00000203724] [ENSMUST00000203786] [ENSMUST00000204059]
AlphaFold Q9QYB8
Predicted Effect unknown
Transcript: ENSMUST00000032069
AA Change: V723M
SMART Domains Protein: ENSMUSP00000032069
Gene: ENSMUSG00000030000
AA Change: V723M

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 benign
Transcript: ENSMUST00000203279
AA Change: V475M

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000145452
Gene: ENSMUSG00000030000
AA Change: V475M

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 unknown
Transcript: ENSMUST00000203724
AA Change: V723M
SMART Domains Protein: ENSMUSP00000145296
Gene: ENSMUSG00000030000
AA Change: V723M

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 unknown
Transcript: ENSMUST00000203786
AA Change: V723M
SMART Domains Protein: ENSMUSP00000144694
Gene: ENSMUSG00000030000
AA Change: V723M

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 unknown
Transcript: ENSMUST00000204059
AA Change: V723M
SMART Domains Protein: ENSMUSP00000145160
Gene: ENSMUSG00000030000
AA Change: V723M

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik C A 7: 115,692,757 (GRCm39) D20E probably benign Het
Abcb9 T A 5: 124,216,853 (GRCm39) M455L probably benign Het
Apoh T A 11: 108,300,064 (GRCm39) Y238N probably damaging Het
Arpp21 A G 9: 111,896,360 (GRCm39) S681P probably benign Het
Atp1a3 A C 7: 24,698,389 (GRCm39) F149C probably damaging Het
B9d1 A G 11: 61,397,186 (GRCm39) D27G probably benign Het
Bfar T A 16: 13,503,001 (GRCm39) M1K probably null Het
Bok T C 1: 93,616,963 (GRCm39) V103A probably damaging Het
Brca1 A C 11: 101,414,758 (GRCm39) H1125Q probably benign Het
Card9 T A 2: 26,247,632 (GRCm39) M218L probably damaging Het
Cers1 T C 8: 70,776,018 (GRCm39) V303A probably damaging Het
Col6a5 T C 9: 105,814,534 (GRCm39) I493V unknown Het
Coro7 T C 16: 4,446,085 (GRCm39) Y880C probably damaging Het
Cyp2b19 T C 7: 26,463,801 (GRCm39) Y318H probably benign Het
Dennd3 T A 15: 73,394,131 (GRCm39) L52Q probably damaging Het
Dlat A T 9: 50,570,670 (GRCm39) C33S probably benign Het
Dmxl2 T A 9: 54,287,099 (GRCm39) Q2646L probably benign Het
Dnah3 T C 7: 119,610,295 (GRCm39) N1703D probably damaging Het
Dock10 T A 1: 80,518,998 (GRCm39) H1241L probably damaging Het
Fbxl17 T G 17: 63,794,910 (GRCm39) I391L probably benign Het
Fdxacb1 A G 9: 50,681,418 (GRCm39) D113G possibly damaging Het
Flii A G 11: 60,605,919 (GRCm39) S1185P probably benign Het
Gm14496 A T 2: 181,637,577 (GRCm39) Q217L possibly damaging Het
Heatr9 A T 11: 83,410,018 (GRCm39) D74E probably benign Het
Heca C A 10: 17,783,895 (GRCm39) E91* probably null Het
Ikzf4 T G 10: 128,468,575 (GRCm39) T635P probably benign Het
Kif17 C T 4: 138,008,688 (GRCm39) P382S probably damaging Het
Kmt5b T C 19: 3,865,330 (GRCm39) V775A probably benign Het
Mapk8ip2 T A 15: 89,343,241 (GRCm39) F661Y probably damaging Het
Mapkap1 A G 2: 34,423,859 (GRCm39) E111G possibly damaging Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Mid2 T A X: 139,578,981 (GRCm39) Y61N probably damaging Het
Mief1 T A 15: 80,132,080 (GRCm39) Y50* probably null Het
Mios T C 6: 8,235,429 (GRCm39) M859T probably benign Het
Muc5ac G T 7: 141,352,619 (GRCm39) C702F possibly damaging Het
Nkiras1 T C 14: 18,276,935 (GRCm38) probably benign Het
Or11i1 A C 3: 106,729,608 (GRCm39) I89R possibly damaging Het
Or11i1 T A 3: 106,729,624 (GRCm39) M84L possibly damaging Het
Or56a3b T G 7: 104,771,520 (GRCm39) H285Q probably null Het
Or5ae2 T A 7: 84,506,509 (GRCm39) C311S probably benign Het
Pcsk5 C T 19: 17,410,963 (GRCm39) V1810M probably benign Het
Pex1 T C 5: 3,680,270 (GRCm39) V964A probably damaging Het
Pgm2l1 A T 7: 99,916,794 (GRCm39) M471L probably benign Het
Pkd1l2 T C 8: 117,738,314 (GRCm39) T2182A probably damaging Het
Plscr1l1 G A 9: 92,233,084 (GRCm39) C69Y probably damaging Het
Polr1b T A 2: 128,951,257 (GRCm39) I290K probably benign Het
Prkg1 T A 19: 31,563,045 (GRCm39) M119L probably damaging Het
Rbl1 A G 2: 157,019,275 (GRCm39) V490A probably benign Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Slc10a6 T A 5: 103,776,848 (GRCm39) Y84F probably benign Het
Slc25a23 T C 17: 57,366,597 (GRCm39) D26G probably damaging Het
Slc41a2 T C 10: 83,152,320 (GRCm39) K52E probably damaging Het
Slc4a5 T C 6: 83,247,951 (GRCm39) F501L probably benign Het
Slfn5 T A 11: 82,847,226 (GRCm39) M37K probably benign Het
Sptbn1 A C 11: 30,067,759 (GRCm39) F1818L probably benign Het
Taf3 T C 2: 9,956,770 (GRCm39) T466A probably damaging Het
Thbs2 C T 17: 14,891,750 (GRCm39) G929D probably damaging Het
Tmc3 A T 7: 83,271,746 (GRCm39) D995V probably damaging Het
Tmem262 T C 19: 6,130,452 (GRCm39) F59L possibly damaging Het
Triobp A G 15: 78,875,228 (GRCm39) D137G probably damaging Het
Tspear T C 10: 77,702,199 (GRCm39) F211L possibly damaging Het
Ttn A T 2: 76,728,670 (GRCm39) probably benign Het
Ugt2b5 T A 5: 87,287,550 (GRCm39) M206L probably benign Het
Ush1g A T 11: 115,209,466 (GRCm39) S243T probably damaging Het
Usp19 A T 9: 108,370,433 (GRCm39) T86S possibly damaging Het
Wdhd1 A G 14: 47,506,149 (GRCm39) V255A probably benign Het
Wdr11 G A 7: 129,220,394 (GRCm39) W594* probably null Het
Wnk3 T A X: 149,993,933 (GRCm39) Y331* probably null Het
Zfp429 A T 13: 67,538,523 (GRCm39) I307K probably benign Het
Zkscan14 T A 5: 145,132,444 (GRCm39) K362N probably damaging 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
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'- AGAGCCTGAGCCAGTGAAAC -3'
(R):5'- TCCTAACATAGGCAGCCCAG -3'

Sequencing Primer
(F):5'- AGGCCCTCAGCAAAGGACTG -3'
(R):5'- GCTGCCAACTAACTGTGACTATGG -3'
Posted On 2015-12-29