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
Synonyms 2410038D05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01650
Quality Score
Status
Chromosome 19
Chromosomal Location 4185422-4189608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4189323 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Agbl1 A G 7: 76,070,067 (GRCm39) D281G probably damaging Het
Arhgap28 T C 17: 68,180,127 (GRCm39) E236G probably damaging Het
Bltp1 G A 3: 37,046,822 (GRCm39) probably benign Het
Btbd3 A T 2: 138,126,025 (GRCm39) D334V probably damaging Het
Clcn4 T C 7: 7,287,280 (GRCm39) probably benign Het
Col14a1 A G 15: 55,270,089 (GRCm39) Y600C unknown Het
Cpne4 A G 9: 104,778,710 (GRCm39) D167G probably damaging Het
Eif3a T A 19: 60,762,434 (GRCm39) I450F probably damaging Het
Enpp2 T A 15: 54,783,329 (GRCm39) Y10F probably benign Het
Fam227a A T 15: 79,518,274 (GRCm39) H339Q possibly damaging Het
Far2 C A 6: 148,074,985 (GRCm39) T406K possibly damaging Het
Fmo1 A G 1: 162,661,153 (GRCm39) S377P probably benign Het
Fsip2 G A 2: 82,821,430 (GRCm39) S5721N probably benign Het
Gatb T C 3: 85,520,791 (GRCm39) I300T possibly damaging Het
Gpam T C 19: 55,070,132 (GRCm39) N375D probably benign Het
Gsdma G T 11: 98,564,513 (GRCm39) D331Y probably damaging Het
Kif13b T C 14: 65,002,594 (GRCm39) V1073A probably benign Het
Mfsd4b1 T A 10: 39,879,115 (GRCm39) M261L probably benign Het
Nav1 A T 1: 135,382,498 (GRCm39) D1321E probably damaging Het
Or4f59 A G 2: 111,872,720 (GRCm39) I219T possibly damaging Het
Or52j3 A G 7: 102,836,286 (GRCm39) I159M probably benign Het
Or6c69 A G 10: 129,747,550 (GRCm39) V199A probably benign Het
Or6c76b T A 10: 129,692,936 (GRCm39) L183Q probably damaging Het
Or8g32 G T 9: 39,305,252 (GRCm39) S55I probably damaging Het
Ppp1r10 G T 17: 36,242,053 (GRCm39) R857L unknown Het
Prune2 T A 19: 17,145,656 (GRCm39) I2752N possibly damaging Het
Pxdn T C 12: 30,052,400 (GRCm39) I859T probably benign Het
Ros1 T C 10: 52,031,075 (GRCm39) D510G probably damaging Het
Sema3g C A 14: 30,943,744 (GRCm39) P208H probably benign Het
Smcr8 T C 11: 60,669,010 (GRCm39) F53L probably damaging Het
Tnfsf13b A T 8: 10,081,411 (GRCm39) I219F probably damaging Het
Vmn1r62 T C 7: 5,679,024 (GRCm39) V235A probably damaging Het
Vmn2r44 C A 7: 8,383,103 (GRCm39) probably null Het
Zkscan7 A G 9: 122,723,892 (GRCm39) D287G probably benign Het
Other mutations in Cabp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Cabp4 APN 19 4,189,406 (GRCm39) missense possibly damaging 0.88
IGL01372:Cabp4 APN 19 4,189,322 (GRCm39) missense probably benign 0.15
IGL02756:Cabp4 APN 19 4,188,560 (GRCm39) missense possibly damaging 0.75
R4809:Cabp4 UTSW 19 4,189,290 (GRCm39) missense probably benign
R4909:Cabp4 UTSW 19 4,187,120 (GRCm39) missense possibly damaging 0.76
R5252:Cabp4 UTSW 19 4,186,067 (GRCm39) unclassified probably benign
R5502:Cabp4 UTSW 19 4,181,228 (GRCm39) unclassified probably benign
R5609:Cabp4 UTSW 19 4,189,251 (GRCm39) missense probably benign 0.37
R7474:Cabp4 UTSW 19 4,189,398 (GRCm39) missense probably benign 0.02
R7732:Cabp4 UTSW 19 4,185,994 (GRCm39) missense probably benign 0.34
R8713:Cabp4 UTSW 19 4,186,159 (GRCm39) missense probably benign 0.08
R9218:Cabp4 UTSW 19 4,188,693 (GRCm39) critical splice acceptor site probably null
X0020:Cabp4 UTSW 19 4,189,306 (GRCm39) missense probably benign
Z1177:Cabp4 UTSW 19 4,186,221 (GRCm39) missense probably damaging 0.96
Posted On 2014-01-21