Incidental Mutation 'R0017:Cabp2'
ID 19379
Institutional Source Beutler Lab
Gene Symbol Cabp2
Ensembl Gene ENSMUSG00000024857
Gene Name calcium binding protein 2
Synonyms
MMRRC Submission 038312-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R0017 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 19
Chromosomal Location 4131578-4137340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 4136242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 83 (D83A)
Ref Sequence ENSEMBL: ENSMUSP00000124389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159148] [ENSMUST00000159556] [ENSMUST00000159593] [ENSMUST00000162908]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000159148
AA Change: D118A

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125740
Gene: ENSMUSG00000024857
AA Change: D118A

DomainStartEndE-ValueType
low complexity region 36 46 N/A INTRINSIC
EFh 65 93 2.62e-5 SMART
Blast:EFh 101 126 3e-6 BLAST
EFh 139 167 1.26e-7 SMART
EFh 176 203 3.85e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000159556
AA Change: D83A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124389
Gene: ENSMUSG00000024857
AA Change: D83A

DomainStartEndE-ValueType
EFh 30 58 2.62e-5 SMART
Blast:EFh 66 91 2e-6 BLAST
EFh 104 132 1.26e-7 SMART
EFh 141 168 3.85e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159593
SMART Domains Protein: ENSMUSP00000124607
Gene: ENSMUSG00000024857

DomainStartEndE-ValueType
low complexity region 36 46 N/A INTRINSIC
Pfam:EF-hand_1 65 93 2.8e-9 PFAM
Pfam:EF-hand_6 65 96 6.9e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162584
Predicted Effect possibly damaging
Transcript: ENSMUST00000162908
AA Change: D136A

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125255
Gene: ENSMUSG00000024857
AA Change: D136A

DomainStartEndE-ValueType
low complexity region 25 39 N/A INTRINSIC
EFh 83 111 2.62e-5 SMART
Blast:EFh 119 144 4e-6 BLAST
EFh 157 185 1.26e-7 SMART
EFh 194 221 3.85e-3 SMART
Meta Mutation Damage Score 0.5623 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.0%
  • 20x: 89.2%
Validation Efficiency 96% (76/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous knockout affects calcium channels in cochlear inner hair cell synapses, resulting in hearing impairment. It also affects transmission of responses to light through the retinal circuits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G T 17: 9,226,938 (GRCm39) probably benign Het
Abca13 T A 11: 9,242,775 (GRCm39) I1546N probably damaging Het
Actrt3 A T 3: 30,652,422 (GRCm39) M224K probably benign Het
Adgrv1 T C 13: 81,727,065 (GRCm39) N429S probably benign Het
Appbp2 A C 11: 85,105,129 (GRCm39) C146G possibly damaging Het
Ccl1 A G 11: 82,068,843 (GRCm39) probably null Het
Cdca8 T C 4: 124,814,168 (GRCm39) T208A probably benign Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Dcdc5 G A 2: 106,187,541 (GRCm39) noncoding transcript Het
Efr3b C A 12: 4,043,003 (GRCm39) C89F probably damaging Het
Enpp3 C T 10: 24,675,051 (GRCm39) probably null Het
Ep400 A T 5: 110,821,395 (GRCm39) V2467E probably damaging Het
Ermap T C 4: 119,037,145 (GRCm39) probably benign Het
Fig4 A G 10: 41,149,003 (GRCm39) Y150H possibly damaging Het
Fsip2 G A 2: 82,822,416 (GRCm39) V6050M probably damaging Het
Gnb1l T C 16: 18,359,810 (GRCm39) W72R probably damaging Het
Gpld1 A G 13: 25,174,101 (GRCm39) D842G probably damaging Het
Hmgcr A G 13: 96,788,597 (GRCm39) probably benign Het
Hrc A G 7: 44,985,794 (GRCm39) H315R possibly damaging Het
Ifit2 A T 19: 34,550,973 (GRCm39) N171I probably damaging Het
Ipo11 T A 13: 107,023,238 (GRCm39) I416L probably benign Het
Kcnab1 G A 3: 65,264,527 (GRCm39) V259M probably damaging Het
Kcng4 T C 8: 120,360,259 (GRCm39) Y39C probably damaging Het
Kif5c A G 2: 49,622,725 (GRCm39) T526A probably benign Het
Kntc1 A G 5: 123,919,044 (GRCm39) Y805C probably damaging Het
Mal A G 2: 127,482,227 (GRCm39) S59P probably damaging Het
Myh15 A G 16: 48,983,423 (GRCm39) N1513D probably damaging Het
Ncoa2 A G 1: 13,244,976 (GRCm39) L574P probably damaging Het
Nmd3 A G 3: 69,643,425 (GRCm39) probably null Het
Nucb2 A G 7: 116,132,386 (GRCm39) D331G probably benign Het
Nwd1 T C 8: 73,436,053 (GRCm39) probably benign Het
Nynrin T C 14: 56,109,852 (GRCm39) F1653S probably damaging Het
Or4a80 A C 2: 89,582,365 (GRCm39) I269S possibly damaging Het
Or7c19 T A 8: 85,957,706 (GRCm39) I194N probably benign Het
Or8b12b T G 9: 37,684,274 (GRCm39) F106L probably benign Het
Pfdn6 T C 17: 34,158,538 (GRCm39) R79G probably damaging Het
Pkd1 G T 17: 24,797,513 (GRCm39) probably null Het
Pramel4 T G 4: 143,794,914 (GRCm39) C434G probably benign Het
Ptpn13 T C 5: 103,634,638 (GRCm39) probably null Het
Ptpro T C 6: 137,393,825 (GRCm39) V831A probably benign Het
Rabl6 A T 2: 25,492,579 (GRCm39) probably benign Het
Reg3b T A 6: 78,349,844 (GRCm39) M128K possibly damaging Het
Rif1 A G 2: 52,006,686 (GRCm39) T2207A probably benign Het
Rpa1 A C 11: 75,205,687 (GRCm39) N223K probably null Het
Rras2 T C 7: 113,647,490 (GRCm39) probably benign Het
Ryr1 T A 7: 28,746,967 (GRCm39) E3760V probably damaging Het
Scyl3 T A 1: 163,767,538 (GRCm39) I204N possibly damaging Het
Serpinb9h A C 13: 33,588,494 (GRCm39) I360L probably damaging Het
Slc16a12 A G 19: 34,650,098 (GRCm39) probably benign Het
Slc22a1 A G 17: 12,878,646 (GRCm39) F356L probably damaging Het
Slc22a29 A G 19: 8,195,630 (GRCm39) probably benign Het
Slc45a1 C A 4: 150,714,023 (GRCm39) D741Y possibly damaging Het
Slco1a5 A T 6: 142,182,061 (GRCm39) probably benign Het
Smg5 G T 3: 88,258,412 (GRCm39) R461L probably damaging Het
Snrk T C 9: 121,995,306 (GRCm39) S362P probably damaging Het
Spata31d1b A G 13: 59,863,883 (GRCm39) S344G probably benign Het
Sync G A 4: 129,187,537 (GRCm39) V190M probably damaging Het
Taf5l T C 8: 124,730,383 (GRCm39) Y67C probably damaging Het
Tbkbp1 A G 11: 97,037,115 (GRCm39) probably benign Het
Tshr A T 12: 91,504,660 (GRCm39) I533F possibly damaging Het
Tsn T C 1: 118,228,589 (GRCm39) D211G probably damaging Het
Ttn G A 2: 76,621,988 (GRCm39) T15518I probably benign Het
Unc13c T C 9: 73,600,583 (GRCm39) D1387G probably benign Het
Vapb A G 2: 173,613,397 (GRCm39) T99A probably benign Het
Vmn2r127 A G 17: 19,373,879 (GRCm39) noncoding transcript Het
Zfp280d A T 9: 72,246,292 (GRCm39) probably null Het
Other mutations in Cabp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02160:Cabp2 APN 19 4,134,868 (GRCm39) splice site probably benign
IGL02338:Cabp2 APN 19 4,134,154 (GRCm39) missense possibly damaging 0.74
R0153:Cabp2 UTSW 19 4,134,913 (GRCm39) splice site probably benign
R0432:Cabp2 UTSW 19 4,134,903 (GRCm39) missense possibly damaging 0.59
R2027:Cabp2 UTSW 19 4,137,126 (GRCm39) missense probably damaging 1.00
R3693:Cabp2 UTSW 19 4,133,593 (GRCm39) missense probably benign 0.02
R3694:Cabp2 UTSW 19 4,133,593 (GRCm39) missense probably benign 0.02
R3695:Cabp2 UTSW 19 4,133,593 (GRCm39) missense probably benign 0.02
R5935:Cabp2 UTSW 19 4,136,497 (GRCm39) missense probably damaging 1.00
R5939:Cabp2 UTSW 19 4,136,470 (GRCm39) missense possibly damaging 0.85
R6413:Cabp2 UTSW 19 4,135,698 (GRCm39) splice site probably null
R7023:Cabp2 UTSW 19 4,132,658 (GRCm39) critical splice acceptor site probably null
R8113:Cabp2 UTSW 19 4,135,582 (GRCm39) missense probably damaging 1.00
R8544:Cabp2 UTSW 19 4,134,892 (GRCm39) missense probably damaging 1.00
R9125:Cabp2 UTSW 19 4,135,597 (GRCm39) missense probably damaging 1.00
R9310:Cabp2 UTSW 19 4,136,464 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCAGGAAGTGTCATGCCATCATTG -3'
(R):5'- AAGTCAACCAGGCCATCTCCATTG -3'

Sequencing Primer
(F):5'- TGCCATCATTGGCATACAGG -3'
(R):5'- CATGGGATCACTGACTGAGC -3'
Posted On 2013-04-11