Incidental Mutation 'IGL01090:Cabp5'
ID 51499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cabp5
Ensembl Gene ENSMUSG00000005649
Gene Name calcium binding protein 5
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01090
Quality Score
Status
Chromosome 7
Chromosomal Location 13132057-13142812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13139412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 146 (E146K)
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: E146K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005791
Gene: ENSMUSG00000005649
AA Change: E146K

DomainStartEndE-ValueType
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: E146K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112415
Gene: ENSMUSG00000005649
AA Change: E146K

DomainStartEndE-ValueType
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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,896,099 (GRCm39) S316P possibly damaging Het
Actn1 A T 12: 80,245,846 (GRCm39) probably null Het
Agbl3 T C 6: 34,776,822 (GRCm39) Y443H probably benign Het
Akap13 T A 7: 75,316,279 (GRCm39) D578E probably benign Het
Aldoa A T 7: 126,395,207 (GRCm39) H292Q probably benign Het
Als2 T C 1: 59,254,775 (GRCm39) K194R possibly damaging Het
Bivm C A 1: 44,168,451 (GRCm39) H244N probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cfap251 A C 5: 123,418,052 (GRCm39) probably benign Het
Clcn4 A G 7: 7,297,035 (GRCm39) V129A probably benign Het
Clec4g A G 8: 3,769,482 (GRCm39) S54P probably damaging Het
Crim1 G T 17: 78,654,658 (GRCm39) V645L probably damaging Het
Csta1 T C 16: 35,945,421 (GRCm39) T31A probably damaging Het
D930048N14Rik T C 11: 51,544,610 (GRCm39) probably benign Het
Dhx34 G T 7: 15,950,181 (GRCm39) P329Q probably damaging Het
Dusp16 T C 6: 134,702,912 (GRCm39) N193S probably benign Het
Fbn1 A G 2: 125,236,696 (GRCm39) probably benign Het
Fbxo46 A G 7: 18,870,728 (GRCm39) Y449C probably damaging Het
Fmo4 C A 1: 162,637,354 (GRCm39) probably null Het
Foxi3 C A 6: 70,937,729 (GRCm39) N320K probably damaging Het
Gm9964 A G 11: 79,187,210 (GRCm39) L79P unknown Het
Gpr161 T C 1: 165,134,149 (GRCm39) I137T probably damaging Het
Herc1 C T 9: 66,376,457 (GRCm39) Q3426* probably null Het
Hps5 C T 7: 46,437,751 (GRCm39) R108H probably benign Het
Itch T A 2: 155,048,256 (GRCm39) V540E probably damaging Het
L3mbtl1 C A 2: 162,807,925 (GRCm39) P520H probably damaging Het
Mvp A G 7: 126,588,859 (GRCm39) V636A probably benign Het
Odf4 A G 11: 68,812,778 (GRCm39) probably benign Het
Or7g18 A G 9: 18,787,538 (GRCm39) K305R probably benign Het
Pld1 T C 3: 28,142,816 (GRCm39) S675P probably benign Het
Plod3 A G 5: 137,019,090 (GRCm39) D325G probably benign Het
Prss12 T C 3: 123,276,388 (GRCm39) V339A possibly damaging Het
Ptpn13 T A 5: 103,689,180 (GRCm39) L991Q probably null Het
Ptpn3 T A 4: 57,240,833 (GRCm39) I261F probably damaging Het
Rab3gap1 T C 1: 127,858,124 (GRCm39) probably benign Het
Rasa4 A G 5: 136,130,847 (GRCm39) R373G possibly damaging Het
Rmi1 T C 13: 58,557,208 (GRCm39) S486P probably damaging Het
Slc25a23 A G 17: 57,354,233 (GRCm39) I139T probably benign Het
Sspo T A 6: 48,467,059 (GRCm39) S4017T probably benign Het
Tcaf1 C A 6: 42,663,556 (GRCm39) C108F probably benign Het
Tnc T C 4: 63,918,317 (GRCm39) Q1198R probably damaging Het
Tnni3k G T 3: 154,645,320 (GRCm39) Q522K possibly damaging Het
Trio T A 15: 27,773,093 (GRCm39) E713V probably damaging Het
Ugt2b34 C A 5: 87,041,679 (GRCm39) V338F probably damaging Het
Usp40 T A 1: 87,890,187 (GRCm39) M892L probably benign Het
Usp54 A T 14: 20,636,225 (GRCm39) probably benign Het
Vmn2r53 T C 7: 12,334,835 (GRCm39) E275G possibly damaging Het
Vmn2r87 A G 10: 130,333,247 (GRCm39) M1T probably null Het
Wdr83os A T 8: 85,808,476 (GRCm39) D76V probably damaging Het
Other mutations in Cabp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1231:Cabp5 UTSW 7 13,139,350 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-06-21