Incidental Mutation 'R5061:Add2'
| ID |
386614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Add2
|
| Ensembl Gene |
ENSMUSG00000030000 |
| Gene Name |
adducin 2 |
| Synonyms |
2900072M03Rik |
| MMRRC Submission |
042651-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.289)
|
| Stock # |
R5061 (G1)
|
| Quality Score |
175 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
86005663-86101391 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 86064029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032069]
[ENSMUST00000203196]
[ENSMUST00000203196]
[ENSMUST00000203279]
[ENSMUST00000203279]
[ENSMUST00000203366]
[ENSMUST00000203366]
[ENSMUST00000203445]
[ENSMUST00000203445]
[ENSMUST00000205034]
[ENSMUST00000205034]
[ENSMUST00000203724]
[ENSMUST00000203724]
[ENSMUST00000203786]
[ENSMUST00000203786]
[ENSMUST00000204059]
[ENSMUST00000204059]
|
| AlphaFold |
Q9QYB8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032069
|
| SMART Domains |
Protein: ENSMUSP00000032069
Gene: ENSMUSG00000030000
| 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 null
Transcript: ENSMUST00000203196
|
| SMART Domains |
Protein: ENSMUSP00000145104
Gene: ENSMUSG00000030000
| Domain | Start | End | E-Value | Type |
|---|
|
Aldolase_II
|
135 |
317 |
2.9e-48 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203196
|
| SMART Domains |
Protein: ENSMUSP00000145104
Gene: ENSMUSG00000030000
| Domain | Start | End | E-Value | Type |
|---|
|
Aldolase_II
|
135 |
317 |
2.9e-48 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203279
|
| SMART Domains |
Protein: ENSMUSP00000145452
Gene: ENSMUSG00000030000
| 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 null
Transcript: ENSMUST00000203279
|
| SMART Domains |
Protein: ENSMUSP00000145452
Gene: ENSMUSG00000030000
| 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 null
Transcript: ENSMUST00000203366
|
| SMART Domains |
Protein: ENSMUSP00000144849
Gene: ENSMUSG00000030000
| Domain | Start | End | E-Value | Type |
|---|
|
Aldolase_II
|
135 |
317 |
2.9e-48 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203366
|
| SMART Domains |
Protein: ENSMUSP00000144849
Gene: ENSMUSG00000030000
| Domain | Start | End | E-Value | Type |
|---|
|
Aldolase_II
|
135 |
317 |
2.9e-48 |
SMART |
|
| Predicted Effect |
probably null
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 |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000203624
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205034
|
| SMART Domains |
Protein: ENSMUSP00000145034
Gene: ENSMUSG00000030000
| Domain | Start | End | E-Value | Type |
|---|
|
Aldolase_II
|
135 |
317 |
2.9e-48 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205034
|
| SMART Domains |
Protein: ENSMUSP00000145034
Gene: ENSMUSG00000030000
| Domain | Start | End | E-Value | Type |
|---|
|
Aldolase_II
|
135 |
317 |
2.9e-48 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203724
|
| SMART Domains |
Protein: ENSMUSP00000145296
Gene: ENSMUSG00000030000
| 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 null
Transcript: ENSMUST00000203724
|
| SMART Domains |
Protein: ENSMUSP00000145296
Gene: ENSMUSG00000030000
| 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 null
Transcript: ENSMUST00000203786
|
| SMART Domains |
Protein: ENSMUSP00000144694
Gene: ENSMUSG00000030000
| 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 null
Transcript: ENSMUST00000203786
|
| SMART Domains |
Protein: ENSMUSP00000144694
Gene: ENSMUSG00000030000
| 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 null
Transcript: ENSMUST00000204059
|
| SMART Domains |
Protein: ENSMUSP00000145160
Gene: ENSMUSG00000030000
| 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 null
Transcript: ENSMUST00000204059
|
| SMART Domains |
Protein: ENSMUSP00000145160
Gene: ENSMUSG00000030000
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
100% (71/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
G |
4: 39,450,953 (GRCm39) |
H53R |
probably benign |
Het |
| Abcg1 |
A |
G |
17: 31,311,366 (GRCm39) |
K124E |
probably damaging |
Het |
| Acot4 |
G |
T |
12: 84,085,475 (GRCm39) |
R64L |
probably benign |
Het |
| Adam22 |
G |
C |
5: 8,230,238 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
G |
A |
1: 25,107,209 (GRCm39) |
|
probably benign |
Het |
| Akap8l |
T |
G |
17: 32,551,868 (GRCm39) |
K441T |
probably damaging |
Het |
| Aspn |
T |
A |
13: 49,720,080 (GRCm39) |
S365R |
probably damaging |
Het |
| Atxn1 |
T |
G |
13: 45,710,569 (GRCm39) |
K788Q |
probably damaging |
Het |
| Atxn2l |
G |
T |
7: 126,099,375 (GRCm39) |
H135N |
probably damaging |
Het |
| Borcs8 |
T |
G |
8: 70,593,008 (GRCm39) |
|
probably null |
Het |
| Col5a1 |
G |
A |
2: 27,842,390 (GRCm39) |
D422N |
unknown |
Het |
| Cstad |
A |
T |
2: 30,498,275 (GRCm39) |
T37S |
unknown |
Het |
| Dgkq |
A |
T |
5: 108,801,989 (GRCm39) |
D455E |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,385,161 (GRCm39) |
|
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,915,288 (GRCm39) |
I84V |
possibly damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Eif3e |
A |
T |
15: 43,115,657 (GRCm39) |
W370R |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,431,689 (GRCm39) |
D323E |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,021,749 (GRCm39) |
L1408P |
probably benign |
Het |
| Fam110d |
T |
C |
4: 133,979,041 (GRCm39) |
T146A |
probably benign |
Het |
| Gfod1 |
C |
T |
13: 43,353,992 (GRCm39) |
G328S |
probably benign |
Het |
| Gja1 |
T |
A |
10: 56,263,752 (GRCm39) |
L37Q |
probably damaging |
Het |
| Gm10650 |
T |
A |
3: 127,833,666 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14226 |
T |
A |
2: 154,867,106 (GRCm39) |
H354Q |
probably benign |
Het |
| Gm15056 |
T |
C |
8: 21,390,758 (GRCm39) |
T60A |
probably benign |
Het |
| Hsd11b1 |
A |
T |
1: 192,924,553 (GRCm39) |
N6K |
probably benign |
Het |
| Ighv1-36 |
T |
C |
12: 114,843,742 (GRCm39) |
I39M |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kdm7a |
G |
A |
6: 39,128,386 (GRCm39) |
P482S |
possibly damaging |
Het |
| Lama5 |
C |
A |
2: 179,840,579 (GRCm39) |
E607* |
probably null |
Het |
| Lao1 |
T |
A |
4: 118,824,673 (GRCm39) |
S252T |
probably benign |
Het |
| Lrp12 |
A |
G |
15: 39,741,650 (GRCm39) |
F355S |
probably damaging |
Het |
| Mlycd |
T |
C |
8: 120,137,043 (GRCm39) |
F421S |
probably damaging |
Het |
| Nectin3 |
T |
C |
16: 46,268,812 (GRCm39) |
E530G |
probably benign |
Het |
| Nifk |
T |
C |
1: 118,260,669 (GRCm39) |
*270R |
probably null |
Het |
| Ocln |
T |
C |
13: 100,676,106 (GRCm39) |
Y129C |
probably damaging |
Het |
| Or10ag60 |
C |
T |
2: 87,438,176 (GRCm39) |
T148I |
probably benign |
Het |
| Or4f54 |
T |
A |
2: 111,122,832 (GRCm39) |
L73H |
probably damaging |
Het |
| Or52l1 |
T |
A |
7: 104,829,864 (GRCm39) |
I219F |
possibly damaging |
Het |
| Or5b117 |
A |
T |
19: 13,431,349 (GRCm39) |
C177* |
probably null |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Ppcs |
T |
C |
4: 119,276,412 (GRCm39) |
K58E |
probably damaging |
Het |
| Prss38 |
T |
C |
11: 59,265,196 (GRCm39) |
T123A |
probably damaging |
Het |
| Rap1gap |
T |
A |
4: 137,447,744 (GRCm39) |
|
probably null |
Het |
| Rbm18 |
A |
G |
2: 36,017,217 (GRCm39) |
F54L |
possibly damaging |
Het |
| Rwdd3 |
G |
A |
3: 120,953,432 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,650,422 (GRCm39) |
K138E |
possibly damaging |
Het |
| Sec24a |
T |
C |
11: 51,604,359 (GRCm39) |
|
probably null |
Het |
| Serpinb10 |
A |
G |
1: 107,468,701 (GRCm39) |
T115A |
probably benign |
Het |
| Slco1a8 |
T |
A |
6: 141,954,414 (GRCm39) |
M20L |
probably benign |
Het |
| Slx4ip |
T |
G |
2: 136,885,930 (GRCm39) |
F83L |
probably damaging |
Het |
| St3gal1 |
A |
T |
15: 66,980,078 (GRCm39) |
S274T |
probably benign |
Het |
| Stab1 |
A |
C |
14: 30,885,056 (GRCm39) |
C121W |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,743,249 (GRCm39) |
L1149P |
probably damaging |
Het |
| Svil |
T |
G |
18: 5,048,954 (GRCm39) |
I77R |
probably benign |
Het |
| Tbk1 |
T |
G |
10: 121,412,241 (GRCm39) |
E47A |
possibly damaging |
Het |
| Tert |
C |
T |
13: 73,782,397 (GRCm39) |
T557I |
probably damaging |
Het |
| Tfap2c |
A |
G |
2: 172,393,947 (GRCm39) |
D252G |
probably damaging |
Het |
| Tll1 |
C |
A |
8: 64,506,983 (GRCm39) |
C586F |
probably damaging |
Het |
| Tln2 |
T |
G |
9: 67,261,750 (GRCm39) |
N663T |
probably benign |
Het |
| Tmem245 |
T |
A |
4: 56,946,945 (GRCm39) |
Y156F |
possibly damaging |
Het |
| Uhrf1 |
G |
T |
17: 56,627,542 (GRCm39) |
|
probably null |
Het |
| Unc79 |
T |
A |
12: 103,134,700 (GRCm39) |
M2417K |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,689,471 (GRCm39) |
V5011A |
probably benign |
Het |
| Virma |
T |
C |
4: 11,494,840 (GRCm39) |
V47A |
possibly damaging |
Het |
| Vmn2r53 |
A |
C |
7: 12,315,741 (GRCm39) |
S693A |
probably benign |
Het |
| Vps54 |
G |
A |
11: 21,269,881 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,907,318 (GRCm39) |
|
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 |
|
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 |
|
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'- GCCTCGCTGTCTTGTGAAATC -3'
(R):5'- CCTATGGGTCTTTAATTCACAGC -3'
Sequencing Primer
(F):5'- CTTGTGAAATCCTGCTGGGCC -3'
(R):5'- GGGTCTTTAATTCACAGCAACATCAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation