Incidental Mutation 'R8238:Cabp5'
ID 637462
Institutional Source Beutler Lab
Gene Symbol Cabp5
Ensembl Gene ENSMUSG00000005649
Gene Name calcium binding protein 5
Synonyms
MMRRC Submission 067670-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8238 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 13132057-13142812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13139377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 134 (M134K)
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: M134K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005791
Gene: ENSMUSG00000005649
AA Change: M134K

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: M134K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112415
Gene: ENSMUSG00000005649
AA Change: M134K

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency 100% (34/34)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A G 8: 44,103,993 (GRCm39) Y551H probably damaging Het
Ak1 T A 2: 32,523,681 (GRCm39) V198D probably damaging Het
Alx1 C T 10: 102,858,076 (GRCm39) D208N possibly damaging Het
Aoc1l3 A G 6: 48,966,975 (GRCm39) E641G probably damaging Het
Atp5f1b T A 10: 127,921,019 (GRCm39) I182N possibly damaging Het
Camsap2 A T 1: 136,221,764 (GRCm39) I227N probably benign Het
Cfap44 G A 16: 44,235,668 (GRCm39) probably null Het
Dpyd G A 3: 118,988,842 (GRCm39) probably null Het
Etl4 C T 2: 20,811,342 (GRCm39) R1510* probably null Het
Fgr C T 4: 132,724,832 (GRCm39) A311V probably damaging Het
Glipr1 C T 10: 111,829,345 (GRCm39) probably null Het
Gm10799 A G 2: 103,898,496 (GRCm39) F70L probably benign Het
Gm14412 A T 2: 177,007,111 (GRCm39) H261Q unknown Het
Hey2 T A 10: 30,716,659 (GRCm39) M35L probably benign Het
Hspb7 A G 4: 141,149,857 (GRCm39) Y81C probably damaging Het
Ipo5 A T 14: 121,172,652 (GRCm39) K570M probably damaging Het
Iqsec1 A T 6: 90,666,912 (GRCm39) H404Q probably benign Het
Kif5b T A 18: 6,227,619 (GRCm39) Q86L probably damaging Het
Lrrtm4 T A 6: 79,999,668 (GRCm39) I360N probably damaging Het
Mup6 T A 4: 60,003,634 (GRCm39) V29E probably damaging Het
Ncstn G T 1: 171,900,043 (GRCm39) A277E probably damaging Het
Nsun3 A G 16: 62,591,076 (GRCm39) V189A probably damaging Het
Oaf C T 9: 43,150,642 (GRCm39) D77N probably damaging Het
Or13a27 A C 7: 139,925,803 (GRCm39) L33W probably damaging Het
Or55b10 T C 7: 102,143,827 (GRCm39) T52A possibly damaging Het
Pard6a A G 8: 106,429,366 (GRCm39) D138G probably damaging Het
Ppp4r4 A C 12: 103,557,066 (GRCm39) H434P probably benign Het
Sec23b T C 2: 144,406,568 (GRCm39) I121T probably benign Het
Slc36a3 C T 11: 55,022,433 (GRCm39) V254I probably benign Het
Slc7a14 C A 3: 31,281,300 (GRCm39) V337L probably benign Het
Tdh C T 14: 63,733,173 (GRCm39) G206E probably damaging Het
Vmn1r231 T C 17: 21,110,640 (GRCm39) T92A probably benign Het
Vmn2r36 T G 7: 7,892,015 (GRCm39) H431P probably benign Het
Vmn2r92 G T 17: 18,405,278 (GRCm39) M807I probably benign Het
Vps11 T C 9: 44,264,057 (GRCm39) T759A probably benign Het
Xdh G T 17: 74,193,412 (GRCm39) Q1295K probably benign 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
R8012:Cabp5 UTSW 7 13,141,706 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GCCATCATTCCAGTAGGTGATATG -3'
(R):5'- ATGAGAACACACCTTCAAATGAGG -3'

Sequencing Primer
(F):5'- CCAGTAGGTGATATGTTCTAAGTGC -3'
(R):5'- ACACCTTCAAATGAGGACTTGG -3'
Posted On 2020-07-13