Incidental Mutation 'R5939:Cabp2'
| ID |
462456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cabp2
|
| Ensembl Gene |
ENSMUSG00000024857 |
| Gene Name |
calcium binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
043243-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5939 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4131578-4137340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4136470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 172
(C172F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159148]
[ENSMUST00000159556]
[ENSMUST00000159593]
[ENSMUST00000162908]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159148
AA Change: C154F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125740
Gene: ENSMUSG00000024857
AA Change: C154F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
46 |
N/A |
INTRINSIC |
|
EFh
|
65 |
93 |
2.62e-5 |
SMART |
|
Blast:EFh
|
101 |
126 |
3e-6 |
BLAST |
|
EFh
|
139 |
167 |
1.26e-7 |
SMART |
|
EFh
|
176 |
203 |
3.85e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159556
AA Change: C119F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124389
Gene: ENSMUSG00000024857
AA Change: C119F
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
30 |
58 |
2.62e-5 |
SMART |
|
Blast:EFh
|
66 |
91 |
2e-6 |
BLAST |
|
EFh
|
104 |
132 |
1.26e-7 |
SMART |
|
EFh
|
141 |
168 |
3.85e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159593
|
| SMART Domains |
Protein: ENSMUSP00000124607
Gene: ENSMUSG00000024857
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
46 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_1
|
65 |
93 |
2.8e-9 |
PFAM |
|
Pfam:EF-hand_6
|
65 |
96 |
6.9e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162584
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162908
AA Change: C172F
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125255
Gene: ENSMUSG00000024857
AA Change: C172F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
39 |
N/A |
INTRINSIC |
|
EFh
|
83 |
111 |
2.62e-5 |
SMART |
|
Blast:EFh
|
119 |
144 |
4e-6 |
BLAST |
|
EFh
|
157 |
185 |
1.26e-7 |
SMART |
|
EFh
|
194 |
221 |
3.85e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous knockout affects calcium channels in cochlear inner hair cell synapses, resulting in hearing impairment. It also affects transmission of responses to light through the retinal circuits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,404,138 (GRCm39) |
F225I |
probably damaging |
Het |
| Ager |
G |
T |
17: 34,817,175 (GRCm39) |
C38F |
probably damaging |
Het |
| Arel1 |
C |
A |
12: 84,973,066 (GRCm39) |
R577L |
probably damaging |
Het |
| Armh1 |
T |
C |
4: 117,087,119 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
A |
C |
6: 38,171,904 (GRCm39) |
S755A |
possibly damaging |
Het |
| Duox1 |
A |
T |
2: 122,176,832 (GRCm39) |
H1451L |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,037,801 (GRCm39) |
V3359A |
probably damaging |
Het |
| Erlin2 |
T |
C |
8: 27,526,554 (GRCm39) |
F305L |
probably benign |
Het |
| Gm10428 |
A |
C |
11: 62,644,288 (GRCm39) |
|
probably benign |
Het |
| Gnal |
G |
A |
18: 67,324,456 (GRCm39) |
V204M |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,647,014 (GRCm39) |
V629A |
probably damaging |
Het |
| Lrguk |
G |
T |
6: 34,055,688 (GRCm39) |
C435F |
probably damaging |
Het |
| Man1c1 |
C |
T |
4: 134,293,147 (GRCm39) |
V543M |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,344,195 (GRCm39) |
H1779R |
probably benign |
Het |
| Neb |
T |
C |
2: 52,147,606 (GRCm39) |
T2776A |
probably benign |
Het |
| Nek10 |
A |
T |
14: 14,931,290 (GRCm38) |
Y754F |
possibly damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,553,706 (GRCm39) |
I664T |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,089,010 (GRCm39) |
E849G |
probably damaging |
Het |
| Nrros |
A |
G |
16: 31,962,272 (GRCm39) |
F546L |
probably benign |
Het |
| Or12e8 |
A |
C |
2: 87,188,048 (GRCm39) |
I87L |
possibly damaging |
Het |
| Or5d39 |
T |
C |
2: 87,979,853 (GRCm39) |
Y170C |
probably damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,117 (GRCm39) |
T26A |
probably benign |
Het |
| Penk |
A |
G |
4: 4,138,010 (GRCm39) |
F45S |
probably benign |
Het |
| Pgap4 |
T |
A |
4: 49,586,412 (GRCm39) |
Q252L |
probably damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,824 (GRCm39) |
N166K |
probably benign |
Het |
| Psmb1 |
A |
G |
17: 15,718,440 (GRCm39) |
F29L |
probably damaging |
Het |
| Rab23 |
T |
C |
1: 33,762,990 (GRCm39) |
V20A |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,815,552 (GRCm39) |
A113T |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,805,218 (GRCm39) |
R882K |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,731,929 (GRCm39) |
N586S |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,368,031 (GRCm39) |
I207V |
probably benign |
Het |
| Spef2 |
G |
A |
15: 9,614,301 (GRCm39) |
T1215I |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,667,073 (GRCm39) |
Y532H |
possibly damaging |
Het |
| Tmc7 |
C |
T |
7: 118,144,950 (GRCm39) |
A537T |
probably benign |
Het |
| Tmem70 |
T |
C |
1: 16,747,615 (GRCm39) |
V243A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,422,786 (GRCm38) |
Y1408H |
probably damaging |
Het |
| Tpcn1 |
A |
T |
5: 120,677,892 (GRCm39) |
F642I |
probably damaging |
Het |
| Xirp1 |
T |
G |
9: 119,847,575 (GRCm39) |
D436A |
probably benign |
Het |
|
| Other mutations in Cabp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02160:Cabp2
|
APN |
19 |
4,134,868 (GRCm39) |
splice site |
probably benign |
|
|
IGL02338:Cabp2
|
APN |
19 |
4,134,154 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0017:Cabp2
|
UTSW |
19 |
4,136,242 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0153:Cabp2
|
UTSW |
19 |
4,134,913 (GRCm39) |
splice site |
probably benign |
|
|
R0432:Cabp2
|
UTSW |
19 |
4,134,903 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2027:Cabp2
|
UTSW |
19 |
4,137,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3693:Cabp2
|
UTSW |
19 |
4,133,593 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3694:Cabp2
|
UTSW |
19 |
4,133,593 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3695:Cabp2
|
UTSW |
19 |
4,133,593 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5935:Cabp2
|
UTSW |
19 |
4,136,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6413:Cabp2
|
UTSW |
19 |
4,135,698 (GRCm39) |
splice site |
probably null |
|
|
R7023:Cabp2
|
UTSW |
19 |
4,132,658 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8113:Cabp2
|
UTSW |
19 |
4,135,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Cabp2
|
UTSW |
19 |
4,134,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9125:Cabp2
|
UTSW |
19 |
4,135,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Cabp2
|
UTSW |
19 |
4,136,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTAATGGACGGACCTTCC -3'
(R):5'- ACTGGTTTAGAATCCTTGAGGGC -3'
Sequencing Primer
(F):5'- TGATGGGTCCCAAGCTGCTG -3'
(R):5'- AGAATCCTTGAGGGCATATGTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation