Incidental Mutation 'IGL00975:Rcn1'
ID 27012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rcn1
Ensembl Gene ENSMUSG00000005973
Gene Name reticulocalbin 1
Synonyms Rcn
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00975
Quality Score
Status
Chromosome 2
Chromosomal Location 105216636-105229664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105225174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 94 (T94A)
Ref Sequence ENSEMBL: ENSMUSP00000006128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006128]
AlphaFold Q05186
Predicted Effect possibly damaging
Transcript: ENSMUST00000006128
AA Change: T94A

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000006128
Gene: ENSMUSG00000005973
AA Change: T94A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EFh 77 105 1.45e0 SMART
EFh 113 141 6.56e0 SMART
Blast:EFh 164 192 3e-9 BLAST
EFh 201 229 4.35e-2 SMART
Pfam:EF-hand_5 244 267 1.6e-4 PFAM
Blast:EFh 278 306 2e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127019
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009]
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn10 A T 15: 85,220,666 (GRCm39) M1L probably benign Het
Atxn7l3 A G 11: 102,185,807 (GRCm39) S3P probably benign Het
Cep112 A G 11: 108,325,012 (GRCm39) D70G probably damaging Het
Col20a1 G A 2: 180,634,271 (GRCm39) A79T probably damaging Het
Cycs T A 6: 50,542,347 (GRCm39) D63V probably benign Het
Dis3 A G 14: 99,316,670 (GRCm39) V855A probably damaging Het
Dnah6 T A 6: 73,150,373 (GRCm39) I797F possibly damaging Het
Dpagt1 T C 9: 44,243,949 (GRCm39) probably null Het
Dst T C 1: 34,227,393 (GRCm39) I1840T possibly damaging Het
Epb41l3 C T 17: 69,514,856 (GRCm39) probably benign Het
Fam20c C T 5: 138,794,912 (GRCm39) H514Y probably benign Het
Fgd6 A T 10: 93,969,938 (GRCm39) M1196L probably damaging Het
Fmo3 T C 1: 162,791,599 (GRCm39) D226G probably benign Het
Fsd1l T C 4: 53,682,187 (GRCm39) L263P probably damaging Het
Gaa C A 11: 119,165,509 (GRCm39) T333K possibly damaging Het
Gm10530 T C 1: 159,512,444 (GRCm39) probably benign Het
Gm5458 A G 14: 19,649,735 (GRCm39) L163P Het
Inpp5j T C 11: 3,452,176 (GRCm39) N358S probably damaging Het
Ms4a8a A G 19: 11,048,151 (GRCm39) L193P probably damaging Het
Neb T C 2: 52,102,740 (GRCm39) K4511R probably benign Het
Odad1 A T 7: 45,592,080 (GRCm39) K320I probably damaging Het
Or5an10 A G 19: 12,276,149 (GRCm39) S116P probably damaging Het
Pcca A G 14: 123,114,312 (GRCm39) D82G probably damaging Het
Pou2f3 T C 9: 43,048,679 (GRCm39) T266A probably benign Het
Ppp1r26 T A 2: 28,343,730 (GRCm39) L1120Q probably damaging Het
Pudp T G 18: 50,701,349 (GRCm39) K128T probably damaging Het
Six5 T C 7: 18,831,603 (GRCm39) L698P probably damaging Het
Slc13a4 T A 6: 35,251,910 (GRCm39) M461L probably benign Het
Slc30a9 T C 5: 67,507,169 (GRCm39) V487A probably damaging Het
Tbx21 T C 11: 96,990,908 (GRCm39) I257V possibly damaging Het
Tg A G 15: 66,553,731 (GRCm39) D382G probably benign Het
Trim34b C A 7: 103,978,859 (GRCm39) C35* probably null Het
Usp47 A G 7: 111,692,577 (GRCm39) D1013G probably damaging Het
Other mutations in Rcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02347:Rcn1 APN 2 105,229,471 (GRCm39) missense probably benign 0.17
californianus UTSW 2 105,219,320 (GRCm39) critical splice donor site probably null
gymnogyps UTSW 2 105,219,518 (GRCm39) missense probably benign 0.06
P0031:Rcn1 UTSW 2 105,219,414 (GRCm39) nonsense probably null
R0107:Rcn1 UTSW 2 105,225,126 (GRCm39) missense possibly damaging 0.79
R1510:Rcn1 UTSW 2 105,219,434 (GRCm39) missense probably damaging 1.00
R1699:Rcn1 UTSW 2 105,229,350 (GRCm39) missense probably damaging 1.00
R4027:Rcn1 UTSW 2 105,229,395 (GRCm39) nonsense probably null
R4028:Rcn1 UTSW 2 105,229,395 (GRCm39) nonsense probably null
R4029:Rcn1 UTSW 2 105,229,395 (GRCm39) nonsense probably null
R4923:Rcn1 UTSW 2 105,219,518 (GRCm39) missense probably benign 0.06
R4956:Rcn1 UTSW 2 105,225,121 (GRCm39) nonsense probably null
R5079:Rcn1 UTSW 2 105,229,402 (GRCm39) missense probably damaging 0.96
R5333:Rcn1 UTSW 2 105,219,471 (GRCm39) missense probably benign 0.00
R5709:Rcn1 UTSW 2 105,225,128 (GRCm39) missense probably damaging 1.00
R6160:Rcn1 UTSW 2 105,222,362 (GRCm39) missense probably damaging 1.00
R6525:Rcn1 UTSW 2 105,219,320 (GRCm39) critical splice donor site probably null
R7111:Rcn1 UTSW 2 105,219,359 (GRCm39) missense probably damaging 1.00
R7388:Rcn1 UTSW 2 105,222,336 (GRCm39) missense probably damaging 0.98
R7974:Rcn1 UTSW 2 105,224,055 (GRCm39) missense probably benign 0.32
R8515:Rcn1 UTSW 2 105,219,464 (GRCm39) missense probably null 0.97
R9765:Rcn1 UTSW 2 105,225,026 (GRCm39) missense possibly damaging 0.89
Posted On 2013-04-17