Incidental Mutation 'R3684:Calb2'
| ID |
269470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calb2
|
| Ensembl Gene |
ENSMUSG00000003657 |
| Gene Name |
calbindin 2 |
| Synonyms |
calretinin, CR |
| MMRRC Submission |
040682-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.229)
|
| Stock # |
R3684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
110869158-110894844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110883620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 35
(Y35H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003754]
[ENSMUST00000212297]
|
| AlphaFold |
Q08331 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003754
AA Change: Y35H
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000003754
Gene: ENSMUSG00000003657
AA Change: Y35H
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
20 |
48 |
3.22e-5 |
SMART |
|
EFh
|
67 |
95 |
1.25e-2 |
SMART |
|
EFh
|
111 |
139 |
2.01e-6 |
SMART |
|
EFh
|
155 |
183 |
1.87e0 |
SMART |
|
EFh
|
199 |
227 |
4.96e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212297
AA Change: Y35H
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous targeted mutants showed normal growth, normal brain histology, and generally normal behavior. Impaired motor coordination was observed in wheel running in young and old mutant mice, and progressive impairment was seen on the runway and horizontal stationary rod tests in older mice. Abnormalities are observed in Purkinje cell firing, altering both simple and complex spikes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
C |
T |
14: 68,819,447 (GRCm39) |
V17I |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,802,453 (GRCm39) |
S1782P |
probably damaging |
Het |
| Btbd9 |
T |
A |
17: 30,553,281 (GRCm39) |
N394Y |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,622,687 (GRCm39) |
T588A |
probably benign |
Het |
| Cfap126 |
T |
C |
1: 170,941,600 (GRCm39) |
S32P |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,369,567 (GRCm39) |
L301P |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,488,198 (GRCm39) |
D610G |
probably damaging |
Het |
| Dok3 |
A |
G |
13: 55,672,306 (GRCm39) |
S154P |
probably damaging |
Het |
| Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
| Gldn |
G |
A |
9: 54,245,624 (GRCm39) |
E392K |
possibly damaging |
Het |
| Gls |
A |
T |
1: 52,205,452 (GRCm39) |
D447E |
probably damaging |
Het |
| Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Jchain |
G |
A |
5: 88,670,398 (GRCm39) |
P74S |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,910 (GRCm39) |
V236A |
probably benign |
Het |
| Mcm3ap |
T |
C |
10: 76,325,260 (GRCm39) |
S954P |
possibly damaging |
Het |
| Myh11 |
T |
C |
16: 14,021,098 (GRCm39) |
N1725S |
probably benign |
Het |
| Ppcdc |
C |
T |
9: 57,328,408 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
A |
G |
13: 76,087,600 (GRCm39) |
I129T |
probably damaging |
Het |
| Sfxn2 |
A |
G |
19: 46,579,592 (GRCm39) |
R252G |
probably benign |
Het |
| Sh2d2a |
C |
A |
3: 87,759,027 (GRCm39) |
|
probably null |
Het |
| Sh3gl1 |
T |
C |
17: 56,325,953 (GRCm39) |
K159E |
possibly damaging |
Het |
| Slc7a9 |
A |
G |
7: 35,152,926 (GRCm39) |
T115A |
probably benign |
Het |
| Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,078,718 (GRCm39) |
D1020V |
probably damaging |
Het |
| Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
| Tmem127 |
T |
A |
2: 127,090,652 (GRCm39) |
I56N |
possibly damaging |
Het |
| Traj7 |
A |
G |
14: 54,448,938 (GRCm39) |
|
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,184,620 (GRCm39) |
F627L |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,041,062 (GRCm39) |
N698K |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,510,937 (GRCm39) |
N514I |
possibly damaging |
Het |
| Uvrag |
A |
T |
7: 98,637,427 (GRCm39) |
C341S |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,189,531 (GRCm39) |
D459G |
probably benign |
Het |
|
| Other mutations in Calb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Calb2
|
APN |
8 |
110,872,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02604:Calb2
|
APN |
8 |
110,875,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03250:Calb2
|
APN |
8 |
110,869,739 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1108:Calb2
|
UTSW |
8 |
110,869,760 (GRCm39) |
nonsense |
probably null |
|
|
R2007:Calb2
|
UTSW |
8 |
110,894,702 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3195:Calb2
|
UTSW |
8 |
110,883,635 (GRCm39) |
splice site |
probably benign |
|
|
R3683:Calb2
|
UTSW |
8 |
110,883,620 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4523:Calb2
|
UTSW |
8 |
110,875,141 (GRCm39) |
splice site |
probably null |
|
|
R4661:Calb2
|
UTSW |
8 |
110,894,709 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4662:Calb2
|
UTSW |
8 |
110,894,709 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5326:Calb2
|
UTSW |
8 |
110,883,610 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5566:Calb2
|
UTSW |
8 |
110,879,332 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8289:Calb2
|
UTSW |
8 |
110,894,690 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8678:Calb2
|
UTSW |
8 |
110,874,275 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9653:Calb2
|
UTSW |
8 |
110,881,374 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCTTTAGTGCCAAGATTGGAG -3'
(R):5'- GCTGAGTACTCCAAGGGTAC -3'
Sequencing Primer
(F):5'- CAAGATTGGAGAGACCCCAG -3'
(R):5'- CTTGAACATGTGCCTGCAAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation