Incidental Mutation 'R8012:Cabp5'
ID 616948
Institutional Source Beutler Lab
Gene Symbol Cabp5
Ensembl Gene ENSMUSG00000005649
Gene Name calcium binding protein 5
Synonyms
MMRRC Submission 046052-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8012 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 13132057-13142812 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 13141706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000005791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005791] [ENSMUST00000117400] [ENSMUST00000152995]
AlphaFold Q9JLK3
Predicted Effect probably null
Transcript: ENSMUST00000005791
SMART Domains Protein: ENSMUSP00000005791
Gene: ENSMUSG00000005649

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 benign
Transcript: ENSMUST00000117400
SMART Domains Protein: ENSMUSP00000112415
Gene: ENSMUSG00000005649

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (44/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 T A 4: 144,429,972 (GRCm39) D339V possibly damaging Het
Adam19 A G 11: 45,955,873 (GRCm39) E73G possibly damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Alas1 A T 9: 106,123,962 (GRCm39) N65K probably benign Het
Amigo1 T A 3: 108,095,958 (GRCm39) S486T probably damaging Het
Arid1a A G 4: 133,420,174 (GRCm39) L591S unknown Het
Asic1 T C 15: 99,594,532 (GRCm39) V326A possibly damaging Het
Aspm A G 1: 139,385,202 (GRCm39) N282S probably benign Het
Atad5 A G 11: 79,985,066 (GRCm39) D51G probably damaging Het
Brd10 A G 19: 29,695,534 (GRCm39) S1320P possibly damaging Het
Cdca2 A G 14: 67,914,821 (GRCm39) C813R probably benign Het
Chpf2 A T 5: 24,795,343 (GRCm39) R289W probably damaging Het
Csf1r A T 18: 61,250,136 (GRCm39) N367I possibly damaging Het
Cyp2c66 T C 19: 39,172,369 (GRCm39) F428S probably damaging Het
Dgkb A T 12: 38,189,485 (GRCm39) N296I probably benign Het
Dhcr24 T C 4: 106,443,853 (GRCm39) F481S probably damaging Het
Diaph3 T C 14: 87,274,958 (GRCm39) Y166C probably benign Het
Dnah7b A T 1: 46,282,525 (GRCm39) Q2886L probably damaging Het
Dock6 A T 9: 21,757,807 (GRCm39) V99E probably benign Het
F830045P16Rik T C 2: 129,316,352 (GRCm39) D119G possibly damaging Het
Fasn A T 11: 120,702,428 (GRCm39) L1773Q probably damaging Het
Filip1 A T 9: 79,725,241 (GRCm39) V1126E probably damaging Het
Fnta T C 8: 26,489,535 (GRCm39) I359V probably benign Het
Hoxc10 T C 15: 102,875,902 (GRCm39) S204P probably benign Het
Kif26b T C 1: 178,743,815 (GRCm39) C1304R probably benign Het
Lamc1 T C 1: 153,097,358 (GRCm39) E1562G probably benign Het
Lrguk A G 6: 34,033,038 (GRCm39) N235D probably benign Het
Ly6g6f T C 17: 35,300,060 (GRCm39) R263G possibly damaging Het
Mcrs1 C A 15: 99,147,766 (GRCm39) S47I probably damaging Het
Mx1 T A 16: 97,258,572 (GRCm39) I42F probably damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Nup188 T A 2: 30,227,277 (GRCm39) C1235S possibly damaging Het
Obsl1 T A 1: 75,469,317 (GRCm39) H1208L probably benign Het
Pcmt1 T C 10: 7,516,527 (GRCm39) D175G probably benign Het
Pcolce T C 5: 137,603,457 (GRCm39) K459E probably benign Het
Pudp T G 18: 50,701,310 (GRCm39) H141P possibly damaging Het
Rock2 T C 12: 16,992,743 (GRCm39) Y171H probably damaging Het
Rwdd1 A C 10: 33,885,198 (GRCm39) probably benign Het
Sbno1 A G 5: 124,522,565 (GRCm39) V1085A probably benign Het
Tie1 A G 4: 118,343,678 (GRCm39) L88P possibly damaging Het
Tmem131 T C 1: 36,847,045 (GRCm39) D1351G probably damaging Het
Tph1 A T 7: 46,306,303 (GRCm39) D219E probably damaging Het
Wdr86 A G 5: 24,935,177 (GRCm39) probably null Het
Other mutations in Cabp5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R8238:Cabp5 UTSW 7 13,139,377 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGCACTCTTCCAGGAACA -3'
(R):5'- CCAAGAAGCAAAGCAAGTGT -3'

Sequencing Primer
(F):5'- TCTACATGCATGCACAGGTG -3'
(R):5'- TACAAGTGCTCAGCCATG -3'
Posted On 2020-01-23