Incidental Mutation 'R0649:Rcn2'
ID 62174
Institutional Source Beutler Lab
Gene Symbol Rcn2
Ensembl Gene ENSMUSG00000032320
Gene Name reticulocalbin 2
Synonyms taipoxin-associated calcium binding protein 49, TCBP-49
MMRRC Submission 038834-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0649 (G1)
Quality Score 98
Status Not validated
Chromosome 9
Chromosomal Location 55949129-55966367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55965419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 296 (D296G)
Ref Sequence ENSEMBL: ENSMUSP00000109915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114276] [ENSMUST00000147842]
AlphaFold Q8BP92
Predicted Effect probably damaging
Transcript: ENSMUST00000114276
AA Change: D296G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109915
Gene: ENSMUSG00000032320
AA Change: D296G

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
EFh 68 96 2.5e-2 SMART
EFh 104 132 3.54e1 SMART
EFh 193 221 6.7e-3 SMART
EFh 234 262 7.57e0 SMART
EFh 270 298 7.23e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144869
Predicted Effect probably benign
Transcript: ENSMUST00000147842
SMART Domains Protein: ENSMUSP00000120953
Gene: ENSMUSG00000032320

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene 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. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 4 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 G A 9: 44,189,330 (GRCm39) T389M probably benign Het
Cln5 A G 14: 103,309,197 (GRCm39) I84V probably benign Het
Nlrp3 G T 11: 59,439,368 (GRCm39) C315F possibly damaging Het
Ttn T C 2: 76,578,188 (GRCm39) E24235G probably damaging Het
Other mutations in Rcn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0316:Rcn2 UTSW 9 55,949,453 (GRCm39) missense probably benign 0.00
R0616:Rcn2 UTSW 9 55,963,534 (GRCm39) missense probably benign 0.45
R1472:Rcn2 UTSW 9 55,963,537 (GRCm39) missense probably benign 0.13
R4206:Rcn2 UTSW 9 55,952,491 (GRCm39) missense possibly damaging 0.51
R4567:Rcn2 UTSW 9 55,960,266 (GRCm39) missense probably benign 0.09
R5032:Rcn2 UTSW 9 55,960,300 (GRCm39) missense probably damaging 1.00
R5579:Rcn2 UTSW 9 55,964,713 (GRCm39) missense probably benign 0.03
R6298:Rcn2 UTSW 9 55,960,209 (GRCm39) missense probably benign 0.13
R6974:Rcn2 UTSW 9 55,960,298 (GRCm39) nonsense probably null
R6996:Rcn2 UTSW 9 55,964,845 (GRCm39) nonsense probably null
R7229:Rcn2 UTSW 9 55,964,763 (GRCm39) missense probably benign 0.05
R7437:Rcn2 UTSW 9 55,965,353 (GRCm39) missense probably damaging 1.00
R7828:Rcn2 UTSW 9 55,960,266 (GRCm39) missense probably benign 0.09
R8469:Rcn2 UTSW 9 55,952,485 (GRCm39) missense probably benign 0.00
R9079:Rcn2 UTSW 9 55,952,393 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- GTTTTGGCAAATCACACTAACCTGAGC -3'
(R):5'- ATCCTCCATGTCTTCAAGTATGGCAAC -3'

Sequencing Primer
(F):5'- CCTGAGCATTTTCCTTACAAAGACTG -3'
(R):5'- TCTTCAAGTATGGCAACAGAGC -3'
Posted On 2013-07-30