Incidental Mutation 'R0087:Add3'
ID 19989
Institutional Source Beutler Lab
Gene Symbol Add3
Ensembl Gene ENSMUSG00000025026
Gene Name adducin 3
Synonyms
MMRRC Submission 038374-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0087 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 19
Chromosomal Location 53128874-53235518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53215038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 71 (L71Q)
Ref Sequence ENSEMBL: ENSMUSP00000107370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025999] [ENSMUST00000050096] [ENSMUST00000111741]
AlphaFold Q9QYB5
Predicted Effect probably damaging
Transcript: ENSMUST00000025999
AA Change: L71Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025999
Gene: ENSMUSG00000025026
AA Change: L71Q

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 101 114 N/A INTRINSIC
Aldolase_II 139 321 1.62e-46 SMART
coiled coil region 556 582 N/A INTRINSIC
low complexity region 590 605 N/A INTRINSIC
low complexity region 650 662 N/A INTRINSIC
low complexity region 673 703 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000050096
AA Change: L71Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052245
Gene: ENSMUSG00000025026
AA Change: L71Q

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 101 114 N/A INTRINSIC
Aldolase_II 139 321 1.62e-46 SMART
low complexity region 618 630 N/A INTRINSIC
low complexity region 641 671 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111741
AA Change: L71Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107370
Gene: ENSMUSG00000025026
AA Change: L71Q

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 101 114 N/A INTRINSIC
Aldolase_II 139 321 1.62e-46 SMART
coiled coil region 556 582 N/A INTRINSIC
low complexity region 590 605 N/A INTRINSIC
low complexity region 650 662 N/A INTRINSIC
low complexity region 673 703 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.5%
  • 20x: 82.3%
Validation Efficiency 86% (59/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal blood pressure and show no significant alterations in red blood cell or platelet structure and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,535,070 (GRCm39) I5732F probably damaging Het
Adss2 A T 1: 177,598,788 (GRCm39) V330E probably benign Het
Agps T A 2: 75,739,979 (GRCm39) Y488N probably damaging Het
Ap3s1 A T 18: 46,891,106 (GRCm39) R66S probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp2a2 C T 5: 122,599,024 (GRCm39) V593I probably benign Het
Chrna6 C T 8: 27,897,014 (GRCm39) V288M probably damaging Het
Col4a2 C T 8: 11,491,296 (GRCm39) L1232F probably benign Het
Dcaf1 A G 9: 106,740,288 (GRCm39) N1225D probably damaging Het
Degs1 A G 1: 182,106,875 (GRCm39) I128T probably benign Het
Dnaaf11 T C 15: 66,341,824 (GRCm39) T91A probably benign Het
Dnah5 A T 15: 28,350,759 (GRCm39) T2594S probably damaging Het
Dnah8 G T 17: 30,974,093 (GRCm39) R2826L probably damaging Het
Elf3 A G 1: 135,184,875 (GRCm39) Y104H probably damaging Het
Fam222b C A 11: 78,044,718 (GRCm39) T93N probably benign Het
Fbxw26 A G 9: 109,554,006 (GRCm39) I211T probably benign Het
Fcho2 T C 13: 98,871,594 (GRCm39) T541A probably benign Het
Flg2 T C 3: 93,109,738 (GRCm39) S589P unknown Het
Foxj3 T A 4: 119,483,597 (GRCm39) V589E unknown Het
Gria1 A G 11: 57,208,538 (GRCm39) Y742C probably damaging Het
Inpp5d T C 1: 87,642,860 (GRCm39) S672P probably damaging Het
Lrrc19 A C 4: 94,529,009 (GRCm39) F91C probably damaging Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mroh3 T C 1: 136,118,541 (GRCm39) I561V probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nbea G T 3: 55,998,444 (GRCm39) T121K possibly damaging Het
Nbr1 A C 11: 101,455,519 (GRCm39) D91A probably benign Het
Ncam2 C A 16: 81,231,789 (GRCm39) N84K probably benign Het
Or4c35 T C 2: 89,808,475 (GRCm39) Y118H probably damaging Het
Or51ac3 A T 7: 103,213,569 (GRCm39) C306S probably benign Het
Or52h9 A G 7: 104,202,869 (GRCm39) I248V possibly damaging Het
Or52z13 A G 7: 103,246,928 (GRCm39) Y135C probably benign Het
Or6b6 A G 7: 106,571,323 (GRCm39) V76A probably benign Het
Pdgfrb A T 18: 61,194,585 (GRCm39) I121F probably damaging Het
Peak1 A T 9: 56,165,609 (GRCm39) I773N probably damaging Het
Pfkfb4 G T 9: 108,836,769 (GRCm39) V155F probably damaging Het
Pkm C T 9: 59,585,382 (GRCm39) R455* probably null Het
Plbd2 C A 5: 120,632,550 (GRCm39) E151* probably null Het
Pld5 G A 1: 175,812,025 (GRCm39) T353M probably damaging Het
Psme2b A T 11: 48,836,544 (GRCm39) D134E possibly damaging Het
Rida T A 15: 34,488,772 (GRCm39) D40V possibly damaging Het
Rnf126 A T 10: 79,595,068 (GRCm39) H265Q probably damaging Het
Rock2 C A 12: 16,978,967 (GRCm39) Q86K probably benign Het
Serpinb1b A T 13: 33,269,302 (GRCm39) T12S probably benign Het
Slco6c1 T A 1: 97,046,303 (GRCm39) Q277L probably benign Het
Spmap2 A T 10: 79,421,785 (GRCm39) Y144* probably null Het
Sptlc2 T A 12: 87,415,892 (GRCm39) H45L probably benign Het
Srsf4 A G 4: 131,627,641 (GRCm39) probably benign Het
Sspo A G 6: 48,454,719 (GRCm39) S2969G probably damaging Het
Steap1 C T 5: 5,786,664 (GRCm39) G258R probably damaging Het
Stk19 A T 17: 35,055,851 (GRCm39) M1K probably null Het
Stk-ps2 C A 1: 46,069,049 (GRCm39) noncoding transcript Het
Taf1c C T 8: 120,327,726 (GRCm39) R332H probably damaging Het
Thbs4 T A 13: 92,891,743 (GRCm39) T791S probably damaging Het
Tjap1 A G 17: 46,574,652 (GRCm39) L21P probably damaging Het
Tmem145 A G 7: 25,007,268 (GRCm39) Y148C probably damaging Het
Tmem267 T A 13: 120,070,810 (GRCm39) V155E probably benign Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Tyro3 T G 2: 119,632,182 (GRCm39) I83S probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r53 A T 6: 90,200,413 (GRCm39) C304S probably benign Het
Vwf G A 6: 125,622,917 (GRCm39) M1761I probably benign Het
Zfp276 T C 8: 123,991,786 (GRCm39) Y445H probably damaging Het
Zfp407 A T 18: 84,578,536 (GRCm39) I859N probably damaging Het
Other mutations in Add3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01744:Add3 APN 19 53,227,861 (GRCm39) missense probably damaging 1.00
IGL02177:Add3 APN 19 53,205,323 (GRCm39) nonsense probably null
IGL03093:Add3 APN 19 53,219,638 (GRCm39) missense probably damaging 1.00
IGL03047:Add3 UTSW 19 53,231,022 (GRCm39) missense probably benign 0.00
PIT4243001:Add3 UTSW 19 53,225,121 (GRCm39) missense probably benign 0.00
PIT4366001:Add3 UTSW 19 53,205,298 (GRCm39) missense unknown
R0335:Add3 UTSW 19 53,225,259 (GRCm39) missense probably benign 0.00
R0346:Add3 UTSW 19 53,205,387 (GRCm39) nonsense probably null
R0514:Add3 UTSW 19 53,225,274 (GRCm39) nonsense probably null
R0692:Add3 UTSW 19 53,205,383 (GRCm39) missense probably damaging 1.00
R1437:Add3 UTSW 19 53,222,109 (GRCm39) missense probably damaging 0.98
R1747:Add3 UTSW 19 53,230,981 (GRCm39) missense probably benign 0.41
R2926:Add3 UTSW 19 53,215,253 (GRCm39) splice site probably null
R4192:Add3 UTSW 19 53,230,955 (GRCm39) missense probably benign 0.00
R4780:Add3 UTSW 19 53,223,223 (GRCm39) missense possibly damaging 0.64
R5019:Add3 UTSW 19 53,231,002 (GRCm39) missense probably damaging 0.99
R5486:Add3 UTSW 19 53,232,818 (GRCm39) missense probably benign 0.00
R5526:Add3 UTSW 19 53,215,038 (GRCm39) missense probably damaging 1.00
R5580:Add3 UTSW 19 53,233,642 (GRCm39) missense probably damaging 1.00
R5851:Add3 UTSW 19 53,225,205 (GRCm39) missense probably damaging 1.00
R5863:Add3 UTSW 19 53,222,301 (GRCm39) missense probably benign 0.00
R5951:Add3 UTSW 19 53,232,720 (GRCm39) splice site probably null
R6229:Add3 UTSW 19 53,223,277 (GRCm39) missense probably benign 0.35
R7017:Add3 UTSW 19 53,222,284 (GRCm39) missense possibly damaging 0.94
R7190:Add3 UTSW 19 53,205,330 (GRCm39) nonsense probably null
R7222:Add3 UTSW 19 53,205,277 (GRCm39) missense unknown
R7231:Add3 UTSW 19 53,221,577 (GRCm39) missense probably benign 0.00
R7532:Add3 UTSW 19 53,220,589 (GRCm39) missense probably damaging 1.00
R7557:Add3 UTSW 19 53,227,868 (GRCm39) missense probably damaging 0.98
R7726:Add3 UTSW 19 53,227,892 (GRCm39) missense probably damaging 1.00
R9063:Add3 UTSW 19 53,222,302 (GRCm39) missense probably damaging 0.98
R9069:Add3 UTSW 19 53,222,332 (GRCm39) missense possibly damaging 0.92
R9371:Add3 UTSW 19 53,221,499 (GRCm39) missense probably damaging 1.00
R9550:Add3 UTSW 19 53,233,521 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- ACCATGTGTCCACGTTTGGTCC -3'
(R):5'- GCTGAACAGGAACACGTTGCTAAGG -3'

Sequencing Primer
(F):5'- CCACGTTTGGTCCATAATTACAGG -3'
(R):5'- ACACGTTGCTAAGGAGCAC -3'
Posted On 2013-04-11