Incidental Mutation 'IGL02712:Cabp5'
ID 304604
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 # IGL02712
Quality Score
Status
Chromosome 7
Chromosomal Location 13398132-13408887 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13403346 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 93 (M93V)
Ref Sequence ENSEMBL: ENSMUSP00000005791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005791] [ENSMUST00000117400] [ENSMUST00000152995]
AlphaFold Q9JLK3
Predicted Effect probably damaging
Transcript: ENSMUST00000005791
AA Change: M93V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005791
Gene: ENSMUSG00000005649
AA Change: M93V

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: M93V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112415
Gene: ENSMUSG00000005649
AA Change: M93V

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angel1 A G 12: 86,722,839 probably benign Het
Arhgef33 T A 17: 80,360,373 V289D probably damaging Het
BC003331 A G 1: 150,386,356 probably null Het
Ces1a A C 8: 93,036,040 V201G probably damaging Het
Cisd1 A G 10: 71,336,351 F34L probably benign Het
Cyp26a1 T C 19: 37,699,978 L316P probably damaging Het
Ddx39 A G 8: 83,721,757 I213V probably benign Het
Ddx59 A T 1: 136,439,781 N542I probably benign Het
Dytn T C 1: 63,664,422 T233A probably benign Het
Fbxo7 A G 10: 86,024,438 T49A possibly damaging Het
Fmnl2 C A 2: 53,036,498 probably benign Het
Golga2 G T 2: 32,304,213 K610N probably damaging Het
Hipk4 T C 7: 27,528,635 Y269H probably damaging Het
Ifi209 T C 1: 173,642,701 V285A possibly damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Map3k13 T G 16: 21,905,255 V329G probably damaging Het
Mrm3 T C 11: 76,243,857 W29R possibly damaging Het
Nos1ap T C 1: 170,329,251 I213V possibly damaging Het
Nphp4 C T 4: 152,556,275 T1033M probably damaging Het
Nr5a2 T C 1: 136,940,528 probably null Het
Nrcam A G 12: 44,573,827 Y885C probably damaging Het
Olfr23 T C 11: 73,940,930 V228A probably benign Het
Olfr983 T C 9: 40,092,786 H60R probably damaging Het
Ovgp1 T A 3: 105,986,513 probably benign Het
Pdzd2 T C 15: 12,376,027 S1341G probably benign Het
Pld2 T G 11: 70,557,079 L856R probably benign Het
Plod1 A G 4: 147,918,887 F494L possibly damaging Het
Pnkd T A 1: 74,349,868 S233T possibly damaging Het
Rnf144b T C 13: 47,239,779 I198T probably damaging Het
Rsc1a1 G T 4: 141,685,065 Q179K probably benign Het
Slc5a10 C T 11: 61,707,806 W249* probably null Het
Slc9a3r1 T C 11: 115,177,234 V200A possibly damaging Het
Spata32 T G 11: 103,208,147 probably benign Het
Stk4 T A 2: 164,096,897 H228Q probably damaging Het
Szt2 T A 4: 118,384,833 Q1592L probably benign Het
Tnc T A 4: 63,975,256 I1598F probably damaging Het
Togaram2 A T 17: 71,704,754 D476V probably benign Het
Ttll6 T G 11: 96,139,775 probably benign Het
Vmn2r118 A G 17: 55,592,655 S750P probably benign Het
Zswim5 C T 4: 116,985,695 T879I probably damaging Het
Other mutations in Cabp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Cabp5 APN 7 13405487 missense probably damaging 1.00
IGL01621:Cabp5 APN 7 13401264 missense probably damaging 1.00
IGL02391:Cabp5 APN 7 13398344 nonsense probably null
R0565:Cabp5 UTSW 7 13401335 missense probably damaging 0.99
R1231:Cabp5 UTSW 7 13405425 missense probably damaging 1.00
R1482:Cabp5 UTSW 7 13398342 nonsense probably null
R4736:Cabp5 UTSW 7 13400739 splice site probably null
R6036:Cabp5 UTSW 7 13401335 missense probably damaging 0.99
R6036:Cabp5 UTSW 7 13401335 missense probably damaging 0.99
R7162:Cabp5 UTSW 7 13401335 missense probably damaging 0.99
R7769:Cabp5 UTSW 7 13400733 missense probably benign 0.00
R7810:Cabp5 UTSW 7 13398338 missense possibly damaging 0.90
R8012:Cabp5 UTSW 7 13407781 critical splice acceptor site probably null
R8238:Cabp5 UTSW 7 13405452 missense probably damaging 1.00
Posted On 2015-04-16