Incidental Mutation 'R1220:Add2'
ID |
99993 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Add2
|
Ensembl Gene |
ENSMUSG00000030000 |
Gene Name |
adducin 2 |
Synonyms |
2900072M03Rik |
MMRRC Submission |
039289-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.289)
|
Stock # |
R1220 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
86005663-86101391 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86063982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 94
(M94L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145034
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032069]
[ENSMUST00000203196]
[ENSMUST00000203279]
[ENSMUST00000203366]
[ENSMUST00000203445]
[ENSMUST00000204059]
[ENSMUST00000203724]
[ENSMUST00000203786]
[ENSMUST00000205034]
|
AlphaFold |
Q9QYB8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032069
AA Change: M94L
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000032069 Gene: ENSMUSG00000030000 AA Change: M94L
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 |
possibly damaging
Transcript: ENSMUST00000203196
AA Change: M94L
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000145104 Gene: ENSMUSG00000030000 AA Change: M94L
Domain | Start | End | E-Value | Type |
Aldolase_II
|
135 |
317 |
2.9e-48 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203279
AA Change: M94L
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000145452 Gene: ENSMUSG00000030000 AA Change: M94L
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 |
possibly damaging
Transcript: ENSMUST00000203366
AA Change: M94L
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144849 Gene: ENSMUSG00000030000 AA Change: M94L
Domain | Start | End | E-Value | Type |
Aldolase_II
|
135 |
317 |
2.9e-48 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203445
AA Change: M94L
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000145494 Gene: ENSMUSG00000030000 AA Change: M94L
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 |
possibly damaging
Transcript: ENSMUST00000204059
AA Change: M94L
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000145160 Gene: ENSMUSG00000030000 AA Change: M94L
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 |
possibly damaging
Transcript: ENSMUST00000203724
AA Change: M94L
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000145296 Gene: ENSMUSG00000030000 AA Change: M94L
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 |
possibly damaging
Transcript: ENSMUST00000203786
AA Change: M94L
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144694 Gene: ENSMUSG00000030000 AA Change: M94L
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 |
possibly damaging
Transcript: ENSMUST00000205034
AA Change: M94L
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000145034 Gene: ENSMUSG00000030000 AA Change: M94L
Domain | Start | End | E-Value | Type |
Aldolase_II
|
135 |
317 |
2.9e-48 |
SMART |
|
Meta Mutation Damage Score |
0.0788 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
Validation Efficiency |
100% (35/35) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm1 |
C |
A |
7: 119,257,537 (GRCm39) |
S407R |
probably benign |
Het |
Anks6 |
A |
T |
4: 47,025,767 (GRCm39) |
|
probably benign |
Het |
Atxn1 |
A |
G |
13: 45,710,899 (GRCm39) |
S678P |
probably benign |
Het |
Ccnc |
A |
G |
4: 21,732,491 (GRCm39) |
Y76C |
probably damaging |
Het |
Col1a1 |
G |
T |
11: 94,841,957 (GRCm39) |
A1335S |
unknown |
Het |
Col25a1 |
G |
T |
3: 130,182,574 (GRCm39) |
|
probably benign |
Het |
Commd10 |
C |
A |
18: 47,220,107 (GRCm39) |
Q195K |
probably damaging |
Het |
Cps1 |
G |
A |
1: 67,243,862 (GRCm39) |
|
probably null |
Het |
Cramp1 |
A |
T |
17: 25,201,211 (GRCm39) |
V757D |
probably damaging |
Het |
Cttn |
T |
C |
7: 144,017,699 (GRCm39) |
T13A |
probably benign |
Het |
Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
Eif4enif1 |
A |
G |
11: 3,189,493 (GRCm39) |
|
probably benign |
Het |
Exoc3l2 |
T |
A |
7: 19,225,709 (GRCm39) |
|
probably benign |
Het |
Fam118b |
T |
C |
9: 35,134,969 (GRCm39) |
S213G |
possibly damaging |
Het |
Katnal1 |
G |
A |
5: 148,831,061 (GRCm39) |
A171V |
probably benign |
Het |
Lrig3 |
A |
G |
10: 125,832,945 (GRCm39) |
N273S |
probably damaging |
Het |
Lrriq1 |
G |
A |
10: 102,906,990 (GRCm39) |
R1577W |
probably benign |
Het |
Or1e26 |
A |
C |
11: 73,480,203 (GRCm39) |
Y120* |
probably null |
Het |
Or5p70 |
T |
A |
7: 107,994,539 (GRCm39) |
S71T |
probably benign |
Het |
Pmel |
A |
G |
10: 128,549,929 (GRCm39) |
D30G |
probably benign |
Het |
Ppp1r15a |
T |
C |
7: 45,173,293 (GRCm39) |
Y505C |
probably damaging |
Het |
Prpf40b |
C |
T |
15: 99,214,229 (GRCm39) |
R830C |
probably benign |
Het |
Rabgap1l |
A |
T |
1: 160,566,479 (GRCm39) |
D106E |
probably damaging |
Het |
Rad18 |
C |
A |
6: 112,626,625 (GRCm39) |
E141* |
probably null |
Het |
Ros1 |
C |
T |
10: 51,974,966 (GRCm39) |
V1540M |
probably damaging |
Het |
Secisbp2 |
G |
A |
13: 51,810,941 (GRCm39) |
R201H |
probably damaging |
Het |
Shisa6 |
A |
G |
11: 66,110,836 (GRCm39) |
S302P |
probably damaging |
Het |
Slamf9 |
C |
A |
1: 172,304,898 (GRCm39) |
Q171K |
probably benign |
Het |
Sox6 |
T |
A |
7: 115,261,677 (GRCm39) |
T180S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,553,998 (GRCm39) |
S30902G |
possibly damaging |
Het |
Xirp1 |
A |
G |
9: 119,846,982 (GRCm39) |
F634L |
possibly damaging |
Het |
Yrdc |
T |
A |
4: 124,748,329 (GRCm39) |
S278T |
possibly damaging |
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 |
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'- GCCTCGCTGTCTTGTGAAATCCTG -3'
(R):5'- CCCTGGCATCATGAGCAATTCTCC -3'
Sequencing Primer
(F):5'- CTTGTGAAATCCTGCTGGGC -3'
(R):5'- AGAGCCAGGCATCTCTTTG -3'
|
Posted On |
2014-01-15 |