Incidental Mutation 'R6036:Cabp5'
ID 479205
Institutional Source Beutler Lab
Gene Symbol Cabp5
Ensembl Gene ENSMUSG00000005649
Gene Name calcium binding protein 5
Synonyms
MMRRC Submission 043257-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6036 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 13398132-13408887 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13401335 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 67 (M67L)
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: M67L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005791
Gene: ENSMUSG00000005649
AA Change: M67L

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 possibly damaging
Transcript: ENSMUST00000117400
AA Change: M67L

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112415
Gene: ENSMUSG00000005649
AA Change: M67L

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
Meta Mutation Damage Score 0.3000 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.6%
  • 20x: 72.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,832,858 (GRCm38) probably benign Het
Ago1 C T 4: 126,443,228 (GRCm38) R228H probably damaging Het
Alpk3 G A 7: 81,093,257 (GRCm38) V941M probably benign Het
Ano4 A G 10: 88,982,265 (GRCm38) W588R possibly damaging Het
Atp6v1a A G 16: 44,098,831 (GRCm38) Y464H probably benign Het
Barx2 A T 9: 31,913,008 (GRCm38) D28E probably damaging Het
Col10a1 A G 10: 34,395,282 (GRCm38) T417A probably benign Het
Dnah2 C T 11: 69,458,920 (GRCm38) R2399Q probably benign Het
Eif4enif1 T C 11: 3,239,420 (GRCm38) S227P probably damaging Het
Erv3 G A 2: 131,856,005 (GRCm38) H145Y possibly damaging Het
Exoc5 T C 14: 49,014,322 (GRCm38) T591A possibly damaging Het
F5 A T 1: 164,184,996 (GRCm38) E493V probably damaging Het
Gm8444 G T 15: 81,843,593 (GRCm38) probably benign Het
Gria4 T A 9: 4,537,646 (GRCm38) I221L probably benign Het
Hc T C 2: 35,039,684 (GRCm38) T249A probably benign Het
Herc2 A G 7: 56,068,053 (GRCm38) T48A probably benign Het
Hist1h2bl A T 13: 21,715,978 (GRCm38) S56T probably damaging Het
Hp A G 8: 109,576,774 (GRCm38) probably null Het
Ifna15 T G 4: 88,558,073 (GRCm38) D58A possibly damaging Het
Kcnj1 A T 9: 32,397,125 (GRCm38) M262L probably benign Het
Krt83 A C 15: 101,487,531 (GRCm38) I320S possibly damaging Het
Megf10 A G 18: 57,242,727 (GRCm38) N242D probably damaging Het
Nup155 A G 15: 8,128,411 (GRCm38) T451A probably benign Het
Olfr1277 C T 2: 111,269,612 (GRCm38) G252R probably damaging Het
Olfr1288 T C 2: 111,478,988 (GRCm38) L68P probably damaging Het
Olfr559 T A 7: 102,724,485 (GRCm38) I2F probably benign Het
Olfr701 A T 7: 106,818,460 (GRCm38) I126F probably damaging Het
Olfr930 A G 9: 38,930,920 (GRCm38) I250V probably damaging Het
Pdzd8 G A 19: 59,305,209 (GRCm38) P403S probably damaging Het
Piezo2 G A 18: 63,114,948 (GRCm38) Q494* probably null Het
Plag1 T C 4: 3,904,618 (GRCm38) E191G possibly damaging Het
Pou4f2 A T 8: 78,435,474 (GRCm38) S167T probably damaging Het
Scd4 G A 19: 44,344,792 (GRCm38) D319N probably damaging Het
Senp2 A T 16: 22,028,558 (GRCm38) R279* probably null Het
Sh3rf3 G A 10: 58,813,984 (GRCm38) G137D probably benign Het
Simc1 C T 13: 54,524,621 (GRCm38) P261S probably benign Het
Slc26a1 T A 5: 108,673,570 (GRCm38) D151V probably damaging Het
Snx29 A G 16: 11,738,437 (GRCm38) probably null Het
Stard9 C T 2: 120,700,075 (GRCm38) A2271V probably benign Het
Stat6 A G 10: 127,655,444 (GRCm38) N485D possibly damaging Het
Tpcn2 T C 7: 145,268,869 (GRCm38) T280A possibly damaging Het
Ttc23 A G 7: 67,711,366 (GRCm38) I378V possibly damaging Het
Ttc29 A G 8: 78,325,576 (GRCm38) D362G probably benign Het
Ttll7 A G 3: 146,940,162 (GRCm38) I592V probably benign Het
Ugt3a1 A T 15: 9,306,086 (GRCm38) H107L probably benign Het
Vmn1r70 A G 7: 10,633,903 (GRCm38) Q87R probably damaging Het
Wdfy4 G T 14: 33,146,990 (GRCm38) S360R probably damaging Het
Zfp780b A G 7: 27,963,568 (GRCm38) Y521H probably damaging Het
Other mutations in Cabp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Cabp5 APN 7 13,405,487 (GRCm38) missense probably damaging 1.00
IGL01621:Cabp5 APN 7 13,401,264 (GRCm38) missense probably damaging 1.00
IGL02391:Cabp5 APN 7 13,398,344 (GRCm38) nonsense probably null
IGL02712:Cabp5 APN 7 13,403,346 (GRCm38) missense probably damaging 1.00
R0565:Cabp5 UTSW 7 13,401,335 (GRCm38) missense probably damaging 0.99
R1231:Cabp5 UTSW 7 13,405,425 (GRCm38) missense probably damaging 1.00
R1482:Cabp5 UTSW 7 13,398,342 (GRCm38) nonsense probably null
R4736:Cabp5 UTSW 7 13,400,739 (GRCm38) splice site probably null
R6036:Cabp5 UTSW 7 13,401,335 (GRCm38) missense probably damaging 0.99
R7162:Cabp5 UTSW 7 13,401,335 (GRCm38) missense probably damaging 0.99
R7769:Cabp5 UTSW 7 13,400,733 (GRCm38) missense probably benign 0.00
R7810:Cabp5 UTSW 7 13,398,338 (GRCm38) missense possibly damaging 0.90
R8012:Cabp5 UTSW 7 13,407,781 (GRCm38) critical splice acceptor site probably null
R8238:Cabp5 UTSW 7 13,405,452 (GRCm38) missense probably damaging 1.00
Predicted Primers
Posted On 2017-06-26