Incidental Mutation 'R5609:Cabp4'
ID 437996
Institutional Source Beutler Lab
Gene Symbol Cabp4
Ensembl Gene ENSMUSG00000024842
Gene Name calcium binding protein 4
Synonyms 2410038D05Rik
MMRRC Submission 043158-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5609 (G1)
Quality Score 211
Status Not validated
Chromosome 19
Chromosomal Location 4185422-4189608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4189251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 102 (D102G)
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: D102G

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025761
Gene: ENSMUSG00000024842
AA Change: D102G

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,353,874 (GRCm39) I3732T probably benign Het
Ago1 C A 4: 126,354,830 (GRCm39) K127N possibly damaging Het
Akap8l T C 17: 32,557,374 (GRCm39) N79S probably damaging Het
Ano5 T C 7: 51,243,385 (GRCm39) L836P probably damaging Het
AY358078 A G 14: 52,042,065 (GRCm39) T147A unknown Het
Cdc34 C T 10: 79,520,655 (GRCm39) R61C probably damaging Het
Chac1 A G 2: 119,181,887 (GRCm39) K2E unknown Het
Cltc C T 11: 86,621,093 (GRCm39) V305I probably damaging Het
Cog7 T C 7: 121,524,683 (GRCm39) T704A probably benign Het
Cux1 A G 5: 136,421,174 (GRCm39) V184A probably damaging Het
Daglb A T 5: 143,464,274 (GRCm39) T262S probably benign Het
Dglucy A G 12: 100,753,905 (GRCm39) I12V probably null Het
Dnah7a A G 1: 53,621,753 (GRCm39) V1124A probably benign Het
Eef2 C CN 10: 81,014,603 (GRCm39) probably null Het
Eif3k C A 7: 28,681,133 (GRCm39) A9S probably benign Het
Elapor1 T A 3: 108,378,731 (GRCm39) I408F probably damaging Het
Gli3 A T 13: 15,723,038 (GRCm39) M60L possibly damaging Het
Hk1 C T 10: 62,178,330 (GRCm39) E4K probably benign Het
Kmt2b C A 7: 30,276,570 (GRCm39) V1701L probably damaging Het
Lrp1b T C 2: 41,231,807 (GRCm39) H1107R probably damaging Het
Lypd10 A T 7: 24,413,711 (GRCm39) R242S possibly damaging Het
Ncor1 A G 11: 62,249,679 (GRCm39) probably null Het
Or5h23 T A 16: 58,906,439 (GRCm39) M136L possibly damaging Het
Or6c70 T G 10: 129,710,607 (GRCm39) R6S probably benign Het
Plekhg4 G A 8: 106,106,134 (GRCm39) probably null Het
Pmfbp1 G T 8: 110,251,739 (GRCm39) E327D probably damaging Het
Slc22a17 G A 14: 55,146,427 (GRCm39) P63L probably damaging Het
Slc37a1 G A 17: 31,556,982 (GRCm39) V383M possibly damaging Het
Slc9a9 T A 9: 94,691,990 (GRCm39) Y182N probably damaging Het
Slx4ip A G 2: 136,842,162 (GRCm39) D29G probably damaging Het
St3gal5 T C 6: 72,130,446 (GRCm39) V319A possibly damaging Het
Tbc1d10c C T 19: 4,239,881 (GRCm39) M76I possibly damaging Het
Thrb C A 14: 18,033,526 (GRCm38) H416N probably benign Het
Timp2 T A 11: 118,210,987 (GRCm39) D60V probably damaging Het
Ubxn6 C T 17: 56,376,745 (GRCm39) E216K probably benign Het
Unc79 T C 12: 103,094,527 (GRCm39) M1977T probably benign Het
Uri1 G A 7: 37,662,954 (GRCm39) R347* probably null Het
Vmn1r73 G A 7: 11,490,591 (GRCm39) W136* probably null Het
Vmn2r124 T C 17: 18,294,102 (GRCm39) Y730H probably benign Het
Wnk4 C T 11: 101,166,462 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,468,679 (GRCm39) N2971D probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GGTCTAGGATACAAAAGGCCAC -3'
(R):5'- TTGTATCTCCCAGGAGTGCTG -3'

Sequencing Primer
(F):5'- GTCTAGGATACAAAAGGCCACAACTC -3'
(R):5'- AGAGTTGGCACCCAGGGTC -3'
Posted On 2016-10-26