Incidental Mutation 'IGL00927:Cabp4'
ID 29509
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 # IGL00927
Quality Score
Status
Chromosome 19
Chromosomal Location 4185422-4189608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4189406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 50 (S50R)
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 possibly damaging
Transcript: ENSMUST00000025761
AA Change: S50R

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025761
Gene: ENSMUSG00000024842
AA Change: S50R

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,674 (GRCm39) T92A probably damaging Het
Ankhd1 A G 18: 36,765,125 (GRCm39) S1007G probably benign Het
Camp A T 9: 109,678,336 (GRCm39) L56Q probably damaging Het
Cblb A G 16: 51,986,461 (GRCm39) N568S probably benign Het
Ccr6 C A 17: 8,474,825 (GRCm39) T10K probably benign Het
Chit1 T C 1: 134,072,992 (GRCm39) F106S probably damaging Het
Cyb561d1 A G 3: 108,106,943 (GRCm39) L34P probably damaging Het
Dcun1d1 A T 3: 35,975,114 (GRCm39) probably benign Het
Deup1 A G 9: 15,521,967 (GRCm39) probably benign Het
Erich1 A G 8: 14,083,518 (GRCm39) F184S probably damaging Het
Fmnl3 A G 15: 99,235,509 (GRCm39) probably null Het
Grk2 T C 19: 4,337,982 (GRCm39) N508S probably benign Het
Herc4 A G 10: 63,109,316 (GRCm39) I184V probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift56 T C 6: 38,359,155 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,381 (GRCm39) A61T possibly damaging Het
Kmt2d G A 15: 98,742,890 (GRCm39) probably benign Het
Lrrc7 C A 3: 157,866,727 (GRCm39) V1005L possibly damaging Het
Lrrtm1 A T 6: 77,221,046 (GRCm39) M168L probably benign Het
Ndc1 C T 4: 107,241,977 (GRCm39) probably benign Het
Nphs1 A G 7: 30,160,164 (GRCm39) probably benign Het
Or52w1 A T 7: 105,018,454 (GRCm39) Y298F probably damaging Het
Pbld2 T C 10: 62,907,734 (GRCm39) V200A probably benign Het
Pcdhb21 A G 18: 37,647,606 (GRCm39) Y245C probably damaging Het
Pcm1 A G 8: 41,740,918 (GRCm39) T1055A probably damaging Het
Plcl2 C T 17: 50,913,948 (GRCm39) S319L probably benign Het
Plekha8 C A 6: 54,606,822 (GRCm39) Y372* probably null Het
Ralb T A 1: 119,399,506 (GRCm39) N184I probably benign Het
Robo3 C T 9: 37,339,050 (GRCm39) probably null Het
Slc41a1 T A 1: 131,766,914 (GRCm39) L144H probably damaging Het
Smg1 C T 7: 117,739,855 (GRCm39) G3364D probably damaging Het
Spmap2 A G 10: 79,412,433 (GRCm39) S329P probably damaging Het
Vmn1r123 T A 7: 20,896,216 (GRCm39) V36D possibly damaging Het
Zbtb7c T C 18: 76,278,921 (GRCm39) S460P possibly damaging Het
Zscan30 T C 18: 24,104,834 (GRCm39) noncoding transcript Het
Other mutations in Cabp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01372:Cabp4 APN 19 4,189,322 (GRCm39) missense probably benign 0.15
IGL01650:Cabp4 APN 19 4,189,323 (GRCm39) missense probably benign
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 2013-04-17