Incidental Mutation 'R4029:Rcn1'
ID 313119
Institutional Source Beutler Lab
Gene Symbol Rcn1
Ensembl Gene ENSMUSG00000005973
Gene Name reticulocalbin 1
Synonyms Rcn
MMRRC Submission 040959-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4029 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 105216636-105229664 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 105229395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 52 (Y52*)
Ref Sequence ENSEMBL: ENSMUSP00000006128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006128]
AlphaFold Q05186
Predicted Effect probably null
Transcript: ENSMUST00000006128
AA Change: Y52*
SMART Domains Protein: ENSMUSP00000006128
Gene: ENSMUSG00000005973
AA Change: Y52*

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (31/31)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,293,008 (GRCm39) K46R probably benign Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Atp9a A T 2: 168,531,245 (GRCm39) I174N probably damaging Het
Bfsp1 G A 2: 143,673,749 (GRCm39) probably benign Het
Cenpq T C 17: 41,238,140 (GRCm39) T125A probably damaging Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Dip2b A G 15: 100,084,053 (GRCm39) Y892C probably damaging Het
Dmrt2 T G 19: 25,655,498 (GRCm39) S366A probably damaging Het
Exoc7 C T 11: 116,197,814 (GRCm39) probably benign Het
Gabra4 G T 5: 71,729,532 (GRCm39) T390K probably benign Het
Gpr68 A G 12: 100,845,475 (GRCm39) L23P probably damaging Het
Krt17 T A 11: 100,148,349 (GRCm39) N364I probably damaging Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Ly6g6d T A 17: 35,290,636 (GRCm39) Q98L probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Nck2 T C 1: 43,593,251 (GRCm39) F153L probably benign Het
Niban1 G A 1: 151,571,441 (GRCm39) V239I probably benign Het
Nme4 T C 17: 26,313,196 (GRCm39) probably null Het
Nup35 A G 2: 80,483,318 (GRCm39) D172G probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Oog4 A T 4: 143,166,770 (GRCm39) N11K probably benign Het
Phlpp1 T A 1: 106,320,279 (GRCm39) S1425T probably damaging Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Pld2 A G 11: 70,445,731 (GRCm39) N655S probably damaging Het
Pramel28 T A 4: 143,692,354 (GRCm39) T216S probably benign Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Shisal2a G T 4: 108,240,412 (GRCm39) C43* probably null Het
Ston2 T C 12: 91,615,037 (GRCm39) Q457R possibly damaging Het
Syt10 T C 15: 89,698,741 (GRCm39) E201G probably benign Het
Ube4a G A 9: 44,861,198 (GRCm39) probably benign Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Other mutations in Rcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Rcn1 APN 2 105,225,174 (GRCm39) missense possibly damaging 0.83
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
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
Predicted Primers PCR Primer
(F):5'- AGACCAACTGGCGCGATTTC -3'
(R):5'- CTTTCCGGTCTTGCAGAGAACC -3'

Sequencing Primer
(F):5'- CGATTTCGCTTTCGCTTTGC -3'
(R):5'- GTCTTGCAGAGAACCCTCCAGTC -3'
Posted On 2015-04-30