Incidental Mutation 'IGL01372:Cabp4'
ID 76200
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 # IGL01372
Quality Score
Status
Chromosome 19
Chromosomal Location 4185422-4189608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4189322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 78 (E78D)
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: E78D

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025761
Gene: ENSMUSG00000024842
AA Change: E78D

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G A 10: 79,842,089 (GRCm39) D1049N probably benign Het
Ankdd1a A T 9: 65,411,421 (GRCm39) L362Q probably damaging Het
Ankib1 A T 5: 3,822,594 (GRCm39) N37K probably damaging Het
Ankrd55 T A 13: 112,459,677 (GRCm39) D90E probably damaging Het
Atp1a2 T C 1: 172,106,510 (GRCm39) R831G probably damaging Het
Bcar3 A G 3: 122,316,943 (GRCm39) D638G probably damaging Het
Cmtm8 A G 9: 114,619,755 (GRCm39) V130A possibly damaging Het
Cyth3 A G 5: 143,678,393 (GRCm39) T66A possibly damaging Het
Dmbt1 A T 7: 130,705,409 (GRCm39) I1171F possibly damaging Het
Dnah10 G A 5: 124,856,218 (GRCm39) G2060D probably damaging Het
Dnah11 T C 12: 118,156,134 (GRCm39) H172R probably damaging Het
Dnah5 C T 15: 28,230,636 (GRCm39) A178V probably benign Het
Efcab6 T G 15: 83,928,505 (GRCm39) M30L possibly damaging Het
Ehbp1l1 T C 19: 5,765,817 (GRCm39) probably benign Het
Eps15 G A 4: 109,179,303 (GRCm39) E230K probably damaging Het
Fam91a1 A G 15: 58,301,911 (GRCm39) I258M probably damaging Het
Gm5581 G A 6: 131,145,366 (GRCm39) noncoding transcript Het
Hrh1 G A 6: 114,456,958 (GRCm39) V80I probably damaging Het
Ldhd G A 8: 112,355,032 (GRCm39) H290Y probably benign Het
Lepr G A 4: 101,592,774 (GRCm39) E130K possibly damaging Het
Mycbpap T C 11: 94,397,282 (GRCm39) I40V possibly damaging Het
Nrap T A 19: 56,317,534 (GRCm39) probably null Het
Opn5 T A 17: 42,891,435 (GRCm39) probably null Het
Or1j14 T A 2: 36,417,463 (GRCm39) I13N probably benign Het
Or5ac24 A G 16: 59,165,524 (GRCm39) I180T probably damaging Het
Otop3 A T 11: 115,235,930 (GRCm39) T521S possibly damaging Het
Pcsk5 T G 19: 17,595,108 (GRCm39) T409P probably damaging Het
Pde9a T A 17: 31,680,685 (GRCm39) F322Y probably benign Het
Pgm5 T A 19: 24,710,985 (GRCm39) I406F probably damaging Het
Prrc2b T C 2: 32,113,942 (GRCm39) S1998P probably damaging Het
Prune2 T C 19: 17,102,433 (GRCm39) Y2531H probably damaging Het
Ptprk T C 10: 28,445,923 (GRCm39) V932A probably benign Het
Rapgef6 T A 11: 54,559,437 (GRCm39) probably benign Het
Rgsl1 T A 1: 153,701,887 (GRCm39) Y224F probably damaging Het
Rps6kl1 A T 12: 85,193,663 (GRCm39) C143S probably damaging Het
S100a7l2 A G 3: 90,995,616 (GRCm39) probably benign Het
Slc5a5 G A 8: 71,343,020 (GRCm39) probably benign Het
Tfb2m A G 1: 179,369,878 (GRCm39) S182P probably damaging Het
Tmc3 A G 7: 83,261,746 (GRCm39) H608R probably damaging Het
Trim37 T A 11: 87,075,772 (GRCm39) H459Q probably benign Het
Vmn2r71 A T 7: 85,270,022 (GRCm39) probably benign Het
Xirp2 T C 2: 67,344,334 (GRCm39) S2192P possibly damaging Het
Other mutations in Cabp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Cabp4 APN 19 4,189,406 (GRCm39) missense possibly damaging 0.88
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 2013-10-07