Incidental Mutation 'IGL02391:Cabp5'
ID293867
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cabp5
Ensembl Gene ENSMUSG00000005649
Gene Namecalcium binding protein 5
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02391
Quality Score
Status
Chromosome7
Chromosomal Location13398132-13408887 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 13398344 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 13 (R13*)
Ref Sequence ENSEMBL: ENSMUSP00000122731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005791] [ENSMUST00000117400] [ENSMUST00000152995]
Predicted Effect probably null
Transcript: ENSMUST00000005791
AA Change: R13*
SMART Domains Protein: ENSMUSP00000005791
Gene: ENSMUSG00000005649
AA Change: R13*

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 null
Transcript: ENSMUST00000117400
AA Change: R13*
SMART Domains Protein: ENSMUSP00000112415
Gene: ENSMUSG00000005649
AA Change: R13*

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 null
Transcript: ENSMUST00000152995
AA Change: R13*
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,553,352 N748Y probably damaging Het
Actbl2 A G 13: 111,255,167 D12G possibly damaging Het
Adamts10 T C 17: 33,528,811 S74P probably benign Het
Adprhl2 C T 4: 126,317,908 probably benign Het
Amn1 A G 6: 149,169,446 probably null Het
Antxr1 A T 6: 87,287,056 I144N probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cacna1e A G 1: 154,421,113 Y1669H probably damaging Het
Ccdc174 A G 6: 91,898,282 E364G possibly damaging Het
Ccdc18 C T 5: 108,136,052 P74S probably damaging Het
Clec3a C T 8: 114,425,500 S82L probably benign Het
Cnih3 A G 1: 181,406,513 D43G probably damaging Het
Dpp10 G A 1: 123,650,358 T128M probably damaging Het
Edar A T 10: 58,628,581 F79I probably damaging Het
Eif2ak4 T A 2: 118,420,791 H199Q probably benign Het
Fermt1 A G 2: 132,941,951 L46P probably damaging Het
Glipr1 A G 10: 111,988,894 probably benign Het
Gsdmc T C 15: 63,803,579 N129S probably damaging Het
Ift88 T C 14: 57,481,414 S619P possibly damaging Het
Itga9 T A 9: 118,850,805 V262E probably benign Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mta1 T A 12: 113,136,583 I688N possibly damaging Het
Muc4 A T 16: 32,752,076 R651S probably benign Het
Olfr109 C T 17: 37,466,586 P127S probably damaging Het
Olfr1342 A G 4: 118,690,341 L37P probably damaging Het
Olfr824 A G 10: 130,126,904 V51A possibly damaging Het
Opcml A G 9: 28,675,264 I93V probably damaging Het
Parg T G 14: 32,262,681 probably null Het
Rps3a3 A G 13: 108,670,883 probably benign Het
Safb T A 17: 56,600,813 probably benign Het
Sat2 G T 11: 69,622,749 C54F probably damaging Het
Scin T A 12: 40,077,531 Y420F probably benign Het
Slc22a29 A T 19: 8,169,353 S362T probably benign Het
Smchd1 T C 17: 71,431,259 D537G probably null Het
Spred3 A G 7: 29,166,405 S126P probably benign Het
Ssh1 C T 5: 113,942,517 E951K probably damaging Het
Ssmem1 A G 6: 30,512,442 E28G possibly damaging Het
Stox1 A T 10: 62,659,676 probably benign Het
Syn3 T C 10: 86,064,906 I373V probably benign Het
Tecrl A T 5: 83,354,827 F58L probably benign Het
Trp53bp1 T C 2: 121,202,710 N1655S possibly damaging Het
Usp2 G T 9: 44,091,227 Q147H probably damaging Het
Usp24 T A 4: 106,407,129 N1751K possibly damaging Het
Wipf1 T A 2: 73,434,143 D438V 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
IGL02712:Cabp5 APN 7 13403346 missense probably damaging 1.00
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 On2015-04-16