Incidental Mutation 'IGL02347:Rcn1'
ID289336
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rcn1
Ensembl Gene ENSMUSG00000005973
Gene Namereticulocalbin 1
SynonymsRcn
Accession Numbers

Ncbi RefSeq: NM_009037.2; MGI:104559

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02347
Quality Score
Status
Chromosome2
Chromosomal Location105386291-105399319 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 105399126 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 27 (V27E)
Ref Sequence ENSEMBL: ENSMUSP00000006128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006128]
Predicted Effect probably benign
Transcript: ENSMUST00000006128
AA Change: V27E

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000006128
Gene: ENSMUSG00000005973
AA Change: V27E

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A T 6: 96,165,530 Y178N probably damaging Het
9830107B12Rik T A 17: 48,145,664 K35* probably null Het
Adad2 G T 8: 119,616,669 G546V probably damaging Het
Bccip A G 7: 133,709,376 K7E probably benign Het
C8b G A 4: 104,786,954 E273K probably benign Het
Car12 T A 9: 66,764,347 V352D possibly damaging Het
Cyp2d11 G A 15: 82,390,480 R299C probably benign Het
Dnah10 A C 5: 124,833,423 probably null Het
Egf A T 3: 129,678,377 N1199K probably benign Het
Ehbp1l1 A G 19: 5,719,572 W568R possibly damaging Het
Emc3 A G 6: 113,520,572 M106T possibly damaging Het
Epp13 A G 7: 6,269,884 I79M possibly damaging Het
Fam13b T C 18: 34,454,704 K514E probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Frg2f1 A C 4: 119,530,732 L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 probably null Het
Glis3 A G 19: 28,531,883 F234L probably benign Het
Gm2035 T C 12: 87,919,589 D90G probably damaging Het
Grap2 T C 15: 80,646,356 probably benign Het
H2-M10.2 T A 17: 36,285,613 E113D probably benign Het
Itgb6 T C 2: 60,611,412 T685A probably benign Het
Mrpl19 A T 6: 81,962,011 M270K probably damaging Het
Msantd4 G T 9: 4,384,734 probably benign Het
Msr1 G T 8: 39,632,737 T34K probably damaging Het
Npc1 C T 18: 12,199,634 V780M probably benign Het
Nsun6 A G 2: 15,030,020 probably benign Het
Nt5c2 A G 19: 46,924,256 probably benign Het
Nucb2 A C 7: 116,535,878 Q340P probably benign Het
Olfr168 A G 16: 19,530,779 L47P probably damaging Het
Olfr401 C T 11: 74,121,571 T94I probably benign Het
Osgin1 A G 8: 119,445,538 E357G probably benign Het
Pabpc6 C T 17: 9,669,064 R186K probably benign Het
Pex1 A G 5: 3,603,350 K83R probably damaging Het
Ppid A G 3: 79,595,219 I82V probably benign Het
Pygl C T 12: 70,201,892 G318S probably benign Het
Rnaseh1 A T 12: 28,657,630 probably benign Het
Rnf148 A G 6: 23,654,730 V89A probably benign Het
Siglecf G A 7: 43,351,721 V38I possibly damaging Het
Slc13a5 T C 11: 72,258,954 probably null Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Sos2 A T 12: 69,596,746 D953E probably benign Het
Strbp A C 2: 37,645,648 V16G probably benign Het
Sycp1 A T 3: 102,893,547 M567K probably benign Het
Tedc2 A C 17: 24,220,610 V19G probably damaging Het
Tjp1 A G 7: 65,301,064 probably null Het
Ttn A T 2: 76,709,220 V26147E probably damaging Het
Vmn1r86 A G 7: 13,102,647 S51P probably damaging Het
Vmn2r83 A G 10: 79,480,233 T488A possibly damaging Het
Zfp541 A G 7: 16,083,465 Y945C probably damaging Het
Other mutations in Rcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Rcn1 APN 2 105394829 missense possibly damaging 0.83
P0031:Rcn1 UTSW 2 105389069 nonsense probably null
R0107:Rcn1 UTSW 2 105394781 missense possibly damaging 0.79
R1510:Rcn1 UTSW 2 105389089 missense probably damaging 1.00
R1699:Rcn1 UTSW 2 105399005 missense probably damaging 1.00
R4027:Rcn1 UTSW 2 105399050 nonsense probably null
R4028:Rcn1 UTSW 2 105399050 nonsense probably null
R4029:Rcn1 UTSW 2 105399050 nonsense probably null
R4923:Rcn1 UTSW 2 105389173 missense probably benign 0.06
R4956:Rcn1 UTSW 2 105394776 nonsense probably null
R5079:Rcn1 UTSW 2 105399057 missense probably damaging 0.96
R5333:Rcn1 UTSW 2 105389126 missense probably benign 0.00
R5709:Rcn1 UTSW 2 105394783 missense probably damaging 1.00
R6160:Rcn1 UTSW 2 105392017 missense probably damaging 1.00
R6525:Rcn1 UTSW 2 105388975 critical splice donor site probably null
R7111:Rcn1 UTSW 2 105389014 missense probably damaging 1.00
R7388:Rcn1 UTSW 2 105391991 missense probably damaging 0.98
Posted On2015-04-16