Incidental Mutation 'IGL02370:Rcn3'
ID290878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rcn3
Ensembl Gene ENSMUSG00000019539
Gene Namereticulocalbin 3, EF-hand calcium binding domain
SynonymsD530026G20Rik, RLP49, D7Ertd671e, 6030455P07Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02370
Quality Score
Status
Chromosome7
Chromosomal Location45082913-45092221 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45083333 bp
ZygosityHeterozygous
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]
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
1300017J02Rik A G 9: 103,263,074 V482A probably benign Het
4732471J01Rik T C 7: 25,384,888 probably benign Het
Abra T C 15: 41,869,244 D142G probably damaging Het
Aldh9a1 A G 1: 167,356,532 N199D probably damaging Het
Baz2b A T 2: 59,923,589 I1130N possibly damaging Het
Cacna1s A G 1: 136,085,347 I312V probably damaging Het
Chrd A G 16: 20,735,791 M367V possibly damaging Het
Clec12a C T 6: 129,354,576 A160V possibly damaging Het
Cnnm1 T C 19: 43,471,950 probably null Het
Cntnap3 A T 13: 64,751,751 M976K probably benign Het
Cyp27b1 T C 10: 127,050,674 probably benign Het
Ddx54 T A 5: 120,619,787 L226Q probably damaging Het
Dnah7a A G 1: 53,635,397 V407A probably benign Het
Elp4 A G 2: 105,794,592 S201P probably damaging Het
Exoc3 A T 13: 74,192,761 V308D probably benign Het
Exosc3 A G 4: 45,319,671 I117T probably damaging Het
Gbx2 A T 1: 89,929,149 probably benign Het
Gm4858 A G 3: 93,074,047 D124G possibly damaging Het
Hnf1b A C 11: 83,882,733 T253P possibly damaging Het
Itih5 A T 2: 10,186,975 Y107F probably benign Het
Kcnb2 A G 1: 15,710,935 N677S probably benign Het
Knstrn T A 2: 118,823,788 probably null Het
Lin9 G T 1: 180,688,018 C451F probably damaging Het
Mast1 A C 8: 84,912,254 V1482G probably benign Het
Mroh4 A G 15: 74,625,541 F144L probably benign Het
Myrf T C 19: 10,214,140 N945D probably benign Het
Nfrkb G A 9: 31,389,012 G33D probably benign Het
Olfr1036 C A 2: 86,074,788 T16K probably damaging Het
P2ry13 T C 3: 59,209,465 I297M probably damaging Het
Pcdhb21 T A 18: 37,514,592 probably null Het
Pitpnm3 A G 11: 72,051,858 Y868H probably benign Het
Pou2f3 G A 9: 43,137,348 R266W probably damaging Het
Rinl A G 7: 28,794,972 probably null Het
Sema5a T C 15: 32,682,299 probably benign Het
Sipa1l2 A G 8: 125,480,269 L565P probably damaging Het
Slc5a9 A G 4: 111,877,629 I656T probably benign Het
Sptan1 A G 2: 30,030,740 K2404R probably damaging Het
Tarsl2 C A 7: 65,661,165 P314Q probably benign Het
Tbc1d14 C T 5: 36,495,218 V627I possibly damaging Het
Tfcp2 A T 15: 100,512,304 V394D probably damaging Het
Trerf1 C T 17: 47,314,461 noncoding transcript Het
Ucp2 A G 7: 100,498,384 N190S probably damaging Het
Vmn2r124 A G 17: 18,064,191 Q498R probably benign Het
Yeats2 T A 16: 20,150,471 I4N probably damaging Het
Zfp574 T G 7: 25,079,589 I12S possibly damaging Het
Zscan29 T A 2: 121,163,833 E522V probably benign Het
Other mutations in Rcn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02113:Rcn3 APN 7 45083338 missense probably damaging 1.00
PIT4585001:Rcn3 UTSW 7 45086694 missense probably benign 0.41
R0321:Rcn3 UTSW 7 45088715 unclassified probably benign
R2270:Rcn3 UTSW 7 45088651 missense probably damaging 0.99
R4634:Rcn3 UTSW 7 45088668 missense probably damaging 1.00
R5268:Rcn3 UTSW 7 45086779 missense probably damaging 1.00
R6104:Rcn3 UTSW 7 45091523 missense probably damaging 1.00
R6228:Rcn3 UTSW 7 45083296 missense probably damaging 0.98
R7199:Rcn3 UTSW 7 45084909 missense probably damaging 1.00
R7851:Rcn3 UTSW 7 45086812 missense probably benign 0.23
R8015:Rcn3 UTSW 7 45084907 missense probably damaging 0.97
Z1177:Rcn3 UTSW 7 45083689 missense probably benign 0.00
Posted On2015-04-16