Incidental Mutation 'R7437:Rcn2'
ID 576677
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 045513-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7437 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 55949129-55966367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55965353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 274 (L274P)
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: L274P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109915
Gene: ENSMUSG00000032320
AA Change: L274P

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 probably benign
Transcript: ENSMUST00000147842
SMART Domains Protein: ENSMUSP00000120953
Gene: ENSMUSG00000032320

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Meta Mutation Damage Score 0.9649 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A T 17: 24,619,472 (GRCm39) I1192F probably damaging Het
Abca8a A G 11: 109,941,790 (GRCm39) S1160P probably benign Het
Adamtsl2 A G 2: 26,979,721 (GRCm39) I297V probably damaging Het
Aebp1 T A 11: 5,819,757 (GRCm39) F687L possibly damaging Het
Ahsa1 A G 12: 87,314,930 (GRCm39) T28A probably damaging Het
Akap3 A T 6: 126,842,618 (GRCm39) K412N probably damaging Het
Atl1 A G 12: 69,978,396 (GRCm39) I123V probably benign Het
Atp10a G A 7: 58,308,288 (GRCm39) R29H unknown Het
C4b T C 17: 34,953,707 (GRCm39) D967G probably benign Het
Ccdc186 T C 19: 56,795,429 (GRCm39) N416S probably damaging Het
Ccna2 T C 3: 36,625,239 (GRCm39) probably benign Het
Cep70 T C 9: 99,173,582 (GRCm39) L371P probably damaging Het
Cfap46 A T 7: 139,230,753 (GRCm39) C958* probably null Het
Crlf2 T C 5: 109,702,839 (GRCm39) D318G probably benign Het
Csf1 T C 3: 107,658,072 (GRCm39) N14D probably benign Het
Dars1 A G 1: 128,299,941 (GRCm39) Y348H possibly damaging Het
Dnah2 T C 11: 69,389,453 (GRCm39) E813G probably damaging Het
Ebi3 T A 17: 56,261,410 (GRCm39) M102K probably benign Het
Epg5 A G 18: 78,066,493 (GRCm39) D2131G probably benign Het
Fam186a A T 15: 99,840,775 (GRCm39) L1823H probably damaging Het
H2-M3 T C 17: 37,583,569 (GRCm39) M309T probably benign Het
Ift122 C T 6: 115,903,263 (GRCm39) R1176C probably benign Het
Ino80 A G 2: 119,273,067 (GRCm39) S470P possibly damaging Het
Kcnh5 C T 12: 75,184,417 (GRCm39) probably null Het
Kif24 T C 4: 41,404,687 (GRCm39) T438A possibly damaging Het
Kndc1 G A 7: 139,488,959 (GRCm39) G205R probably damaging Het
Lrp1b G T 2: 40,712,658 (GRCm39) D3225E Het
Lrp1b A T 2: 40,712,657 (GRCm39) Y3226N Het
Megf10 G C 18: 57,395,203 (GRCm39) G522R probably damaging Het
Nectin2 A T 7: 19,483,193 (GRCm39) L12* probably null Het
Ngef A T 1: 87,408,327 (GRCm39) M580K probably damaging Het
Oga A T 19: 45,767,046 (GRCm39) M110K possibly damaging Het
Or10ag56 A G 2: 87,139,687 (GRCm39) M205V probably benign Het
Or1e1c A G 11: 73,265,844 (GRCm39) S93G probably benign Het
Or5an1b T C 19: 12,299,472 (GRCm39) N240D probably damaging Het
Pcdhb13 T C 18: 37,577,728 (GRCm39) L702P probably damaging Het
Pcdhb17 A G 18: 37,619,145 (GRCm39) I312V probably benign Het
Pglyrp3 A G 3: 91,937,985 (GRCm39) N265D probably benign Het
Pkd1l2 A G 8: 117,757,421 (GRCm39) V1539A probably damaging Het
Prxl2b C A 4: 154,981,053 (GRCm39) C194F possibly damaging Het
Rpp30 A G 19: 36,081,838 (GRCm39) E267G possibly damaging Het
Rundc3a A G 11: 102,289,230 (GRCm39) M134V probably damaging Het
Samd3 A T 10: 26,146,004 (GRCm39) Q343L possibly damaging Het
Serpinb3c A T 1: 107,199,444 (GRCm39) F359Y probably damaging Het
Slc9a9 T C 9: 95,110,994 (GRCm39) L604P probably benign Het
Strn3 A T 12: 51,656,946 (GRCm39) H777Q probably damaging Het
Tap1 G A 17: 34,409,616 (GRCm39) W284* probably null Het
Tlcd5 C T 9: 43,023,080 (GRCm39) W91* probably null Het
Tmem181a A G 17: 6,353,540 (GRCm39) D384G possibly damaging Het
Txndc12 T C 4: 108,713,368 (GRCm39) S77P probably damaging Het
Wnt16 G A 6: 22,288,560 (GRCm39) V19M probably benign Het
Zfp932 T A 5: 110,157,880 (GRCm39) M526K probably benign Het
Zfp959 G T 17: 56,205,334 (GRCm39) C457F probably damaging Het
Zscan4-ps3 T C 7: 11,346,863 (GRCm39) S300P probably benign 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
R0649:Rcn2 UTSW 9 55,965,419 (GRCm39) missense probably damaging 1.00
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
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'- TAACTGTGTGTAGAGATGCAGAAC -3'
(R):5'- TAGCAAACTACAGAAGGCCG -3'

Sequencing Primer
(F):5'- TGTAGAGATGCAGAACTCAGAATAG -3'
(R):5'- TACAGAAGGCCGCATCCTG -3'
Posted On 2019-10-07