Incidental Mutation 'R1231:Cabp5'
| ID |
152290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cabp5
|
| Ensembl Gene |
ENSMUSG00000005649 |
| Gene Name |
calcium binding protein 5 |
| Synonyms |
|
| MMRRC Submission |
039300-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1231 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
13132057-13142812 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13139350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 125
(I125T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005791]
[ENSMUST00000117400]
[ENSMUST00000152995]
|
| AlphaFold |
Q9JLK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005791
AA Change: I125T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005791
Gene: ENSMUSG00000005649
AA Change: I125T
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
32 |
60 |
1.24e-6 |
SMART |
|
Blast:EFh
|
71 |
96 |
8e-8 |
BLAST |
|
EFh
|
109 |
137 |
7.75e-8 |
SMART |
|
EFh
|
146 |
173 |
4.06e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117400
AA Change: I125T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112415
Gene: ENSMUSG00000005649
AA Change: I125T
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
32 |
60 |
1.24e-6 |
SMART |
|
Blast:EFh
|
71 |
96 |
8e-8 |
BLAST |
|
EFh
|
109 |
137 |
7.75e-8 |
SMART |
|
EFh
|
146 |
172 |
1.94e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152995
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. [provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
C |
T |
10: 50,699,756 (GRCm39) |
P1860S |
probably damaging |
Het |
| Ccnd2 |
A |
T |
6: 127,107,363 (GRCm39) |
S269T |
probably benign |
Het |
| Cmss1 |
C |
T |
16: 57,136,560 (GRCm39) |
R104H |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,813,362 (GRCm39) |
M1522K |
possibly damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,349,486 (GRCm39) |
H87R |
probably benign |
Het |
| Gabrr3 |
G |
A |
16: 59,281,763 (GRCm39) |
D373N |
probably benign |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Itgae |
C |
T |
11: 73,010,205 (GRCm39) |
T565I |
probably benign |
Het |
| Mocos |
G |
T |
18: 24,812,758 (GRCm39) |
A551S |
probably benign |
Het |
| Mtmr9 |
A |
T |
14: 63,765,640 (GRCm39) |
N418K |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,014,198 (GRCm39) |
S330R |
probably benign |
Het |
| Or2t1 |
A |
T |
14: 14,328,515 (GRCm38) |
M135L |
probably benign |
Het |
| Psg16 |
T |
A |
7: 16,829,230 (GRCm39) |
Y271* |
probably null |
Het |
| Psmd2 |
T |
A |
16: 20,474,335 (GRCm39) |
M297K |
possibly damaging |
Het |
| Rnf220 |
A |
T |
4: 117,347,081 (GRCm39) |
S110R |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| St8sia5 |
T |
C |
18: 77,320,502 (GRCm39) |
Y49H |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,178,252 (GRCm39) |
Y76C |
probably damaging |
Het |
| Urm1 |
G |
T |
2: 29,722,711 (GRCm39) |
A15S |
probably damaging |
Het |
|
| Other mutations in Cabp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Cabp5
|
APN |
7 |
13,139,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01621:Cabp5
|
APN |
7 |
13,135,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02391:Cabp5
|
APN |
7 |
13,132,269 (GRCm39) |
nonsense |
probably null |
|
|
IGL02712:Cabp5
|
APN |
7 |
13,137,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0565:Cabp5
|
UTSW |
7 |
13,135,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1482:Cabp5
|
UTSW |
7 |
13,132,267 (GRCm39) |
nonsense |
probably null |
|
|
R4736:Cabp5
|
UTSW |
7 |
13,134,664 (GRCm39) |
splice site |
probably null |
|
|
R6036:Cabp5
|
UTSW |
7 |
13,135,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6036:Cabp5
|
UTSW |
7 |
13,135,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7162:Cabp5
|
UTSW |
7 |
13,135,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7769:Cabp5
|
UTSW |
7 |
13,134,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7810:Cabp5
|
UTSW |
7 |
13,132,263 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8012:Cabp5
|
UTSW |
7 |
13,141,706 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8238:Cabp5
|
UTSW |
7 |
13,139,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGATGAGCCATCATTCCAGTAGG -3'
(R):5'- CACACCTTCAAATGAGGACTTGGAGAA -3'
Sequencing Primer
(F):5'- GCCATCATTCCAGTAGGTGATATG -3'
(R):5'- GGAGAACCACATAGAGAAGTCAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation