Incidental Mutation 'IGL02370:Rcn3'
ID 290878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rcn3
Ensembl Gene ENSMUSG00000019539
Gene Name reticulocalbin 3, EF-hand calcium binding domain
Synonyms RLP49, D530026G20Rik, 6030455P07Rik, D7Ertd671e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02370
Quality Score
Status
Chromosome 7
Chromosomal Location 44732337-44741645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44732757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 304 (S304G)
Ref Sequence ENSEMBL: ENSMUSP00000148227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019683] [ENSMUST00000209761] [ENSMUST00000210469] [ENSMUST00000210734] [ENSMUST00000211352]
AlphaFold Q8BH97
Predicted Effect probably benign
Transcript: ENSMUST00000019683
AA Change: S304G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019683
Gene: ENSMUSG00000019539
AA Change: S304G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Blast:EFh 79 109 9e-9 BLAST
EFh 117 145 1.23e1 SMART
Blast:EFh 167 195 1e-7 BLAST
EFh 204 232 1.62e0 SMART
Blast:EFh 244 272 7e-6 BLAST
EFh 281 309 1.64e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209761
Predicted Effect probably benign
Transcript: ENSMUST00000210469
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210615
Predicted Effect probably benign
Transcript: ENSMUST00000210734
Predicted Effect probably benign
Transcript: ENSMUST00000211352
AA Change: S304G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211760
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732471J01Rik T C 7: 25,084,313 (GRCm39) probably benign Het
Abra T C 15: 41,732,640 (GRCm39) D142G probably damaging Het
Aldh9a1 A G 1: 167,184,101 (GRCm39) N199D probably damaging Het
Baz2b A T 2: 59,753,933 (GRCm39) I1130N possibly damaging Het
Cacna1s A G 1: 136,013,085 (GRCm39) I312V probably damaging Het
Chrd A G 16: 20,554,541 (GRCm39) M367V possibly damaging Het
Clec12a C T 6: 129,331,539 (GRCm39) A160V possibly damaging Het
Cnnm1 T C 19: 43,460,389 (GRCm39) probably null Het
Cntnap3 A T 13: 64,899,565 (GRCm39) M976K probably benign Het
Cyp27b1 T C 10: 126,886,543 (GRCm39) probably benign Het
Ddx54 T A 5: 120,757,852 (GRCm39) L226Q probably damaging Het
Dnah7a A G 1: 53,674,556 (GRCm39) V407A probably benign Het
Elp4 A G 2: 105,624,937 (GRCm39) S201P probably damaging Het
Exoc3 A T 13: 74,340,880 (GRCm39) V308D probably benign Het
Exosc3 A G 4: 45,319,671 (GRCm39) I117T probably damaging Het
Gbx2 A T 1: 89,856,871 (GRCm39) probably benign Het
Hnf1b A C 11: 83,773,559 (GRCm39) T253P possibly damaging Het
Inhca A G 9: 103,140,273 (GRCm39) V482A probably benign Het
Itih5 A T 2: 10,191,786 (GRCm39) Y107F probably benign Het
Kcnb2 A G 1: 15,781,159 (GRCm39) N677S probably benign Het
Knstrn T A 2: 118,654,269 (GRCm39) probably null Het
Lin9 G T 1: 180,515,583 (GRCm39) C451F probably damaging Het
Mast1 A C 8: 85,638,883 (GRCm39) V1482G probably benign Het
Mroh4 A G 15: 74,497,390 (GRCm39) F144L probably benign Het
Myrf T C 19: 10,191,504 (GRCm39) N945D probably benign Het
Nfrkb G A 9: 31,300,308 (GRCm39) G33D probably benign Het
Or5m9b C A 2: 85,905,132 (GRCm39) T16K probably damaging Het
P2ry13 T C 3: 59,116,886 (GRCm39) I297M probably damaging Het
Pcdhb21 T A 18: 37,647,645 (GRCm39) probably null Het
Pitpnm3 A G 11: 71,942,684 (GRCm39) Y868H probably benign Het
Pou2f3 G A 9: 43,048,643 (GRCm39) R266W probably damaging Het
Rinl A G 7: 28,494,397 (GRCm39) probably null Het
Sema5a T C 15: 32,682,445 (GRCm39) probably benign Het
Sipa1l2 A G 8: 126,207,008 (GRCm39) L565P probably damaging Het
Slc5a9 A G 4: 111,734,826 (GRCm39) I656T probably benign Het
Sptan1 A G 2: 29,920,752 (GRCm39) K2404R probably damaging Het
Tars3 C A 7: 65,310,913 (GRCm39) P314Q probably benign Het
Tbc1d14 C T 5: 36,652,562 (GRCm39) V627I possibly damaging Het
Tdpoz8 A G 3: 92,981,354 (GRCm39) D124G possibly damaging Het
Tfcp2 A T 15: 100,410,185 (GRCm39) V394D probably damaging Het
Trerf1 C T 17: 47,625,387 (GRCm39) noncoding transcript Het
Ucp2 A G 7: 100,147,591 (GRCm39) N190S probably damaging Het
Vmn2r124 A G 17: 18,284,453 (GRCm39) Q498R probably benign Het
Yeats2 T A 16: 19,969,221 (GRCm39) I4N probably damaging Het
Zfp574 T G 7: 24,779,014 (GRCm39) I12S possibly damaging Het
Zscan29 T A 2: 120,994,314 (GRCm39) E522V probably benign Het
Other mutations in Rcn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02113:Rcn3 APN 7 44,732,762 (GRCm39) missense probably damaging 1.00
PIT4585001:Rcn3 UTSW 7 44,736,118 (GRCm39) missense probably benign 0.41
R0321:Rcn3 UTSW 7 44,738,139 (GRCm39) unclassified probably benign
R2270:Rcn3 UTSW 7 44,738,075 (GRCm39) missense probably damaging 0.99
R4634:Rcn3 UTSW 7 44,738,092 (GRCm39) missense probably damaging 1.00
R5268:Rcn3 UTSW 7 44,736,203 (GRCm39) missense probably damaging 1.00
R6104:Rcn3 UTSW 7 44,740,947 (GRCm39) missense probably damaging 1.00
R6228:Rcn3 UTSW 7 44,732,720 (GRCm39) missense probably damaging 0.98
R7199:Rcn3 UTSW 7 44,734,333 (GRCm39) missense probably damaging 1.00
R7851:Rcn3 UTSW 7 44,736,236 (GRCm39) missense probably benign 0.23
R8015:Rcn3 UTSW 7 44,734,331 (GRCm39) missense probably damaging 0.97
R8924:Rcn3 UTSW 7 44,733,095 (GRCm39) missense probably damaging 1.00
Z1177:Rcn3 UTSW 7 44,733,113 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16