Incidental Mutation 'IGL02113:Rcn3'
ID280236
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 #IGL02113
Quality Score
Status
Chromosome7
Chromosomal Location45082913-45092221 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45083338 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 302 (I302T)
Ref Sequence ENSEMBL: ENSMUSP00000148227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019683] [ENSMUST00000209761] [ENSMUST00000210469] [ENSMUST00000210734] [ENSMUST00000211352]
Predicted Effect probably damaging
Transcript: ENSMUST00000019683
AA Change: I302T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019683
Gene: ENSMUSG00000019539
AA Change: I302T

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 damaging
Transcript: ENSMUST00000211352
AA Change: I302T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000211760
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,110,478 H726L possibly damaging Het
Aqr A T 2: 114,120,027 Y900* probably null Het
Atp11a G T 8: 12,865,048 R1155S probably benign Het
Bahd1 A G 2: 118,917,205 D435G probably benign Het
Brca2 A G 5: 150,540,979 T1403A possibly damaging Het
Cc2d2a T A 5: 43,685,248 probably null Het
Cog7 A G 7: 121,925,480 I697T probably damaging Het
Dclre1a A G 19: 56,541,532 V791A probably damaging Het
Dgki A G 6: 36,913,625 probably benign Het
Dpyd A G 3: 118,999,219 Y525C probably benign Het
Eepd1 T C 9: 25,482,713 L91P probably damaging Het
Foxf1 T A 8: 121,084,565 L56H probably damaging Het
Fry A T 5: 150,399,605 M1074L probably benign Het
Gbx1 T C 5: 24,504,876 T324A probably damaging Het
Gfpt1 T A 6: 87,087,367 N646K probably benign Het
Gm10258 C T 3: 30,268,393 probably benign Het
Gm12887 T C 4: 121,616,495 M53V probably benign Het
Hoxa11 C T 6: 52,245,317 G135S probably damaging Het
Mettl6 A T 14: 31,482,831 Y211* probably null Het
Moxd2 T C 6: 40,885,404 I160M probably benign Het
Mphosph10 G A 7: 64,376,807 probably benign Het
Mrpl19 T A 6: 81,965,915 M5L probably benign Het
Nbea A G 3: 55,992,492 V1412A probably benign Het
Nceh1 G T 3: 27,222,891 S121I probably damaging Het
Ntan1 A G 16: 13,835,144 T217A probably damaging Het
Ogfod1 C T 8: 94,064,213 A504V probably damaging Het
Olfr584 A T 7: 103,085,850 I111L possibly damaging Het
Pde3b G A 7: 114,526,906 V792M probably damaging Het
Pde9a A T 17: 31,459,970 M262L probably benign Het
Pi4ka A G 16: 17,373,415 V206A probably benign Het
Pkp1 A T 1: 135,883,914 N406K possibly damaging Het
Rfx6 A G 10: 51,678,012 Q68R probably benign Het
Rpgrip1 A G 14: 52,133,844 D340G possibly damaging Het
Scn10a C T 9: 119,609,890 G1638S probably damaging Het
Serpinb9f A T 13: 33,334,468 H317L probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slc40a1 A G 1: 45,910,894 I466T probably benign Het
Smyd2 A T 1: 189,882,217 S371R probably damaging Het
Snap47 A C 11: 59,428,436 I292S probably damaging Het
Tbx4 A G 11: 85,912,264 E322G possibly damaging Het
Tg A G 15: 66,705,330 T1501A probably benign Het
Tmem259 A G 10: 79,978,709 V300A probably benign Het
Usp7 A G 16: 8,716,513 probably null Het
Vmn2r94 G T 17: 18,257,675 T158K probably damaging Het
Vmn2r95 G T 17: 18,439,907 A194S possibly damaging Het
Zfp944 A T 17: 22,339,066 I400N possibly damaging Het
Zmynd12 T A 4: 119,433,997 I53K probably damaging Het
Other mutations in Rcn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02370:Rcn3 APN 7 45083333 missense probably benign
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
Posted On2015-04-16