Incidental Mutation 'IGL01650:Cabp4'
ID 102816
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cabp4
Ensembl Gene ENSMUSG00000024842
Gene Name calcium binding protein 4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01650
Quality Score
Chromosome 19
Chromosomal Location 4135425-4139609 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4139324 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 78 (E78G)
Ref Sequence ENSEMBL: ENSMUSP00000025761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025761] [ENSMUST00000096338]
AlphaFold Q8VHC5
PDB Structure NMR structure of Ca2+ bound CaBP4 C-domain [SOLUTION NMR]
NMR structure of Ca2+ bound CaBP4 N-domain [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000025761
AA Change: E78G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025761
Gene: ENSMUSG00000024842
AA Change: E78G

low complexity region 45 67 N/A INTRINSIC
low complexity region 79 97 N/A INTRINSIC
EFh 129 157 1.08e-6 SMART
Blast:EFh 165 193 2e-7 BLAST
EFh 206 234 1.05e-4 SMART
EFh 243 271 1.55e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096338
SMART Domains Protein: ENSMUSP00000094062
Gene: ENSMUSG00000044724

Pfam:7tm_1 47 295 7e-19 PFAM
low complexity region 347 361 N/A INTRINSIC
low complexity region 419 433 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice with disruptions in this gene display structural and electrophysiological abnormalities in the retina. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 36,992,673 probably benign Het
Agbl1 A G 7: 76,420,319 D281G probably damaging Het
Arhgap28 T C 17: 67,873,132 E236G probably damaging Het
Btbd3 A T 2: 138,284,105 D334V probably damaging Het
Clcn4 T C 7: 7,284,281 probably benign Het
Col14a1 A G 15: 55,406,693 Y600C unknown Het
Cpne4 A G 9: 104,901,511 D167G probably damaging Het
Eif3a T A 19: 60,773,996 I450F probably damaging Het
Enpp2 T A 15: 54,919,933 Y10F probably benign Het
Fam227a A T 15: 79,634,073 H339Q possibly damaging Het
Far2 C A 6: 148,173,487 T406K possibly damaging Het
Fmo1 A G 1: 162,833,584 S377P probably benign Het
Fsip2 G A 2: 82,991,086 S5721N probably benign Het
Gatb T C 3: 85,613,484 I300T possibly damaging Het
Gpam T C 19: 55,081,700 N375D probably benign Het
Gsdma G T 11: 98,673,687 D331Y probably damaging Het
Kif13b T C 14: 64,765,145 V1073A probably benign Het
Mfsd4b1 T A 10: 40,003,119 M261L probably benign Het
Nav1 A T 1: 135,454,760 D1321E probably damaging Het
Olfr1312 A G 2: 112,042,375 I219T possibly damaging Het
Olfr592 A G 7: 103,187,079 I159M probably benign Het
Olfr813 T A 10: 129,857,067 L183Q probably damaging Het
Olfr816 A G 10: 129,911,681 V199A probably benign Het
Olfr951 G T 9: 39,393,956 S55I probably damaging Het
Ppp1r10 G T 17: 35,931,161 R857L unknown Het
Prune2 T A 19: 17,168,292 I2752N possibly damaging Het
Pxdn T C 12: 30,002,401 I859T probably benign Het
Ros1 T C 10: 52,154,979 D510G probably damaging Het
Sema3g C A 14: 31,221,787 P208H probably benign Het
Smcr8 T C 11: 60,778,184 F53L probably damaging Het
Tnfsf13b A T 8: 10,031,411 I219F probably damaging Het
Vmn1r62 T C 7: 5,676,025 V235A probably damaging Het
Vmn2r44 C A 7: 8,380,104 probably null Het
Zkscan7 A G 9: 122,894,827 D287G probably benign Het
Other mutations in Cabp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Cabp4 APN 19 4139407 missense possibly damaging 0.88
IGL01372:Cabp4 APN 19 4139323 missense probably benign 0.15
IGL02756:Cabp4 APN 19 4138561 missense possibly damaging 0.75
R4809:Cabp4 UTSW 19 4139291 missense probably benign
R4909:Cabp4 UTSW 19 4137121 missense possibly damaging 0.76
R5252:Cabp4 UTSW 19 4136068 unclassified probably benign
R5502:Cabp4 UTSW 19 4131229 unclassified probably benign
R5609:Cabp4 UTSW 19 4139252 missense probably benign 0.37
R7474:Cabp4 UTSW 19 4139399 missense probably benign 0.02
R7732:Cabp4 UTSW 19 4135995 missense probably benign 0.34
R8713:Cabp4 UTSW 19 4136160 missense probably benign 0.08
R9218:Cabp4 UTSW 19 4138694 critical splice acceptor site probably null
X0020:Cabp4 UTSW 19 4139307 missense probably benign
Z1177:Cabp4 UTSW 19 4136222 missense probably damaging 0.96
Posted On 2014-01-21