Incidental Mutation 'R2309:Add2'
| ID |
244702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Add2
|
| Ensembl Gene |
ENSMUSG00000030000 |
| Gene Name |
adducin 2 |
| Synonyms |
2900072M03Rik |
| MMRRC Submission |
040308-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.275)
|
| Stock # |
R2309 (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 T
at 86073783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 224
(C224F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032069]
[ENSMUST00000203196]
[ENSMUST00000203279]
[ENSMUST00000203366]
[ENSMUST00000203445]
[ENSMUST00000203724]
[ENSMUST00000203786]
[ENSMUST00000204059]
[ENSMUST00000205034]
|
| AlphaFold |
Q9QYB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032069
AA Change: C224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032069
Gene: ENSMUSG00000030000
AA Change: C224F
| Domain | Start | End | E-Value | Type |
|---|
|
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: C224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145104
Gene: ENSMUSG00000030000
AA Change: C224F
| Domain | Start | End | E-Value | Type |
|---|
|
Aldolase_II
|
135 |
317 |
2.9e-48 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203279
AA Change: C224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145452
Gene: ENSMUSG00000030000
AA Change: C224F
| Domain | Start | End | E-Value | Type |
|---|
|
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: C224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144849
Gene: ENSMUSG00000030000
AA Change: C224F
| Domain | Start | End | E-Value | Type |
|---|
|
Aldolase_II
|
135 |
317 |
2.9e-48 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203445
|
| SMART Domains |
Protein: ENSMUSP00000145494
Gene: ENSMUSG00000030000
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldolase_II
|
135 |
184 |
7.3e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203529
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203724
AA Change: C224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145296
Gene: ENSMUSG00000030000
AA Change: C224F
| Domain | Start | End | E-Value | Type |
|---|
|
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: C224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144694
Gene: ENSMUSG00000030000
AA Change: C224F
| Domain | Start | End | E-Value | Type |
|---|
|
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: C224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145160
Gene: ENSMUSG00000030000
AA Change: C224F
| Domain | Start | End | E-Value | Type |
|---|
|
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: C224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145034
Gene: ENSMUSG00000030000
AA Change: C224F
| Domain | Start | End | E-Value | Type |
|---|
|
Aldolase_II
|
135 |
317 |
2.9e-48 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
A |
G |
18: 36,757,818 (GRCm39) |
I837M |
probably damaging |
Het |
| Baat |
T |
C |
4: 49,499,718 (GRCm39) |
Y196C |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,013,447 (GRCm39) |
N114S |
probably benign |
Het |
| Cldn24 |
T |
G |
8: 48,275,774 (GRCm39) |
Y199* |
probably null |
Het |
| Il1rl1 |
A |
G |
1: 40,481,817 (GRCm39) |
D175G |
possibly damaging |
Het |
| Kcnh8 |
T |
A |
17: 53,285,067 (GRCm39) |
D1012E |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Med23 |
T |
G |
10: 24,746,586 (GRCm39) |
D35E |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,455,638 (GRCm39) |
D2512G |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,064,461 (GRCm39) |
D246V |
probably damaging |
Het |
| Nlrp9c |
C |
A |
7: 26,077,512 (GRCm39) |
V757F |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,298 (GRCm39) |
F170S |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,278,460 (GRCm39) |
|
probably benign |
Het |
| Qsox2 |
T |
C |
2: 26,118,445 (GRCm39) |
I109V |
possibly damaging |
Het |
| Rnf17 |
A |
G |
14: 56,743,439 (GRCm39) |
K1335R |
possibly damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,438 (GRCm39) |
Y104H |
probably benign |
Het |
| Serpini2 |
A |
G |
3: 75,166,997 (GRCm39) |
S87P |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,048,916 (GRCm39) |
V1981M |
probably damaging |
Het |
| Sgpp2 |
T |
C |
1: 78,393,986 (GRCm39) |
F330L |
probably damaging |
Het |
| Slc6a6 |
G |
C |
6: 91,703,177 (GRCm39) |
W183C |
possibly damaging |
Het |
| Ttll9 |
A |
G |
2: 152,826,065 (GRCm39) |
K81E |
probably damaging |
Het |
| Ulbp1 |
G |
A |
10: 7,397,388 (GRCm39) |
T239I |
probably benign |
Het |
| Vmn1r230 |
A |
G |
17: 21,067,492 (GRCm39) |
H227R |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,096,283 (GRCm39) |
F1029I |
probably benign |
Het |
|
| Other mutations in Add2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- AGGACTCCCTGTTGCTGTAC -3'
(R):5'- CTTGGCCTGAGTTCCAGATC -3'
Sequencing Primer
(F):5'- AATGCACTGGGCCCATGTG -3'
(R):5'- CAAATTTCCTGGGACTAGGGTTACAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation