Incidental Mutation 'IGL02318:Ric3'
ID 288131
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ric3
Ensembl Gene ENSMUSG00000048330
Gene Name RIC3 acetylcholine receptor chaperone
Synonyms E130307J04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL02318
Quality Score
Status
Chromosome 7
Chromosomal Location 108633519-108682538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108647287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 178 (T178A)
Ref Sequence ENSEMBL: ENSMUSP00000112788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055993] [ENSMUST00000120876] [ENSMUST00000147580]
AlphaFold Q8BPM6
Predicted Effect probably damaging
Transcript: ENSMUST00000055993
AA Change: T179A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056990
Gene: ENSMUSG00000048330
AA Change: T179A

DomainStartEndE-ValueType
Pfam:RIC3 15 165 1.2e-38 PFAM
low complexity region 256 272 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120876
AA Change: T178A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112788
Gene: ENSMUSG00000048330
AA Change: T178A

DomainStartEndE-ValueType
Pfam:RIC3 15 165 3.9e-52 PFAM
low complexity region 255 271 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133876
Predicted Effect probably benign
Transcript: ENSMUST00000147580
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the resistance to inhibitors of cholinesterase 3-like family which functions as a chaperone of specific 5-hydroxytryptamine type 3 receptor and nicotinic acetylcholine receptor subtypes. The encoded protein influences the folding and assembly of these receptor subunits in the endoplasmic reticulum and expression on the cell surface. This protein contains an N-terminal transmembrane domain, a proline-rich spacer, and a cytosolic C-terminal coiled-coil domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,561,838 (GRCm39) F116S probably damaging Het
Abhd18 G A 3: 40,884,662 (GRCm39) probably null Het
Akr1c6 G T 13: 4,488,496 (GRCm39) C34F probably benign Het
Ankef1 T A 2: 136,386,695 (GRCm39) I180N possibly damaging Het
Ap1b1 G A 11: 4,969,294 (GRCm39) V217I probably benign Het
Arhgap27 T C 11: 103,223,989 (GRCm39) Q608R probably benign Het
Arhgap32 A G 9: 32,170,627 (GRCm39) T1136A probably benign Het
Ascc3 T A 10: 50,604,250 (GRCm39) Y1323* probably null Het
Bsx A C 9: 40,785,517 (GRCm39) Q15P probably benign Het
Cdh20 A G 1: 104,881,764 (GRCm39) I410V probably null Het
Cfhr4 T A 1: 139,708,835 (GRCm39) E24D probably benign Het
Col20a1 A G 2: 180,648,952 (GRCm39) D945G probably damaging Het
Cox20 A G 1: 178,150,043 (GRCm39) probably null Het
Cplane1 A G 15: 8,204,509 (GRCm39) K96E probably damaging Het
Cpne9 A G 6: 113,270,699 (GRCm39) D305G possibly damaging Het
Cyp2d12 A G 15: 82,439,444 (GRCm39) T33A probably benign Het
Dvl3 A G 16: 20,342,493 (GRCm39) R149G possibly damaging Het
Dysf A G 6: 84,163,446 (GRCm39) I1624V possibly damaging Het
Echs1 A T 7: 139,691,623 (GRCm39) L167Q probably damaging Het
Ect2 A T 3: 27,192,868 (GRCm39) N358K probably benign Het
Eml4 A G 17: 83,748,795 (GRCm39) I230V probably benign Het
Fut10 A G 8: 31,726,286 (GRCm39) Y347C probably damaging Het
Gfm2 C A 13: 97,299,483 (GRCm39) N401K probably damaging Het
Gm4795 C T 10: 44,882,735 (GRCm39) noncoding transcript Het
Gm5592 C A 7: 40,936,212 (GRCm39) T238N probably benign Het
Gm9892 T C 8: 52,649,260 (GRCm39) noncoding transcript Het
Greb1l G T 18: 10,469,388 (GRCm39) M134I possibly damaging Het
Grk3 A G 5: 113,085,669 (GRCm39) Y314H probably damaging Het
Hrh2 T C 13: 54,368,669 (GRCm39) I215T probably damaging Het
Ilkap A G 1: 91,312,960 (GRCm39) probably null Het
Inpp4a T C 1: 37,407,384 (GRCm39) Y233H probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Lmo7 C T 14: 102,137,502 (GRCm39) probably benign Het
Luc7l3 C T 11: 94,183,819 (GRCm39) R440Q probably benign Het
Mis18bp1 A C 12: 65,205,515 (GRCm39) I219S probably benign Het
Myo9b G A 8: 71,806,768 (GRCm39) E1581K probably damaging Het
Nfs1 T A 2: 155,966,191 (GRCm39) Q458L probably damaging Het
Numb A T 12: 83,878,692 (GRCm39) probably null Het
Nxf1 G A 19: 8,741,514 (GRCm39) probably null Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or52z1 A G 7: 103,437,475 (GRCm39) V3A probably benign Het
Pacc1 A G 1: 191,080,605 (GRCm39) E275G possibly damaging Het
Pde2a A T 7: 101,152,550 (GRCm39) Y371F possibly damaging Het
Phlpp2 G T 8: 110,666,505 (GRCm39) L1011F probably benign Het
Potefam3e T C 8: 19,797,815 (GRCm39) probably null Het
Prss27 G T 17: 24,264,571 (GRCm39) V245L probably benign Het
Rbm7 T C 9: 48,405,411 (GRCm39) N56S probably damaging Het
Rftn1 T C 17: 50,343,998 (GRCm39) I97V possibly damaging Het
Rock1 A G 18: 10,104,323 (GRCm39) probably benign Het
Sall2 T C 14: 52,553,022 (GRCm39) T56A probably damaging Het
Sgk1 T C 10: 21,871,440 (GRCm39) S60P probably damaging Het
Smarcad1 G A 6: 65,050,223 (GRCm39) A281T probably damaging Het
Spta1 A G 1: 174,002,029 (GRCm39) H53R possibly damaging Het
Thbs4 T C 13: 92,900,092 (GRCm39) D468G probably damaging Het
Tmem108 A T 9: 103,376,981 (GRCm39) V156E probably benign Het
Tnfaip3 T G 10: 18,880,215 (GRCm39) R617S probably benign Het
Traf3 A G 12: 111,204,031 (GRCm39) M7V probably benign Het
Ubr3 T A 2: 69,809,741 (GRCm39) I1237N probably damaging Het
Vmn2r23 T C 6: 123,718,795 (GRCm39) V716A probably benign Het
Other mutations in Ric3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:Ric3 APN 7 108,653,620 (GRCm39) missense probably damaging 1.00
IGL00942:Ric3 APN 7 108,653,619 (GRCm39) missense probably damaging 1.00
IGL02868:Ric3 APN 7 108,653,626 (GRCm39) missense probably damaging 1.00
IGL03012:Ric3 APN 7 108,637,925 (GRCm39) missense probably benign
R0842:Ric3 UTSW 7 108,638,087 (GRCm39) missense probably damaging 1.00
R2291:Ric3 UTSW 7 108,638,090 (GRCm39) missense probably damaging 1.00
R2912:Ric3 UTSW 7 108,653,660 (GRCm39) missense possibly damaging 0.87
R2913:Ric3 UTSW 7 108,653,660 (GRCm39) missense possibly damaging 0.87
R3690:Ric3 UTSW 7 108,637,817 (GRCm39) missense possibly damaging 0.89
R4587:Ric3 UTSW 7 108,653,570 (GRCm39) critical splice donor site probably null
R5039:Ric3 UTSW 7 108,637,930 (GRCm39) missense probably benign
R5636:Ric3 UTSW 7 108,638,027 (GRCm39) missense probably damaging 1.00
R6738:Ric3 UTSW 7 108,647,269 (GRCm39) nonsense probably null
R8725:Ric3 UTSW 7 108,637,924 (GRCm39) missense probably benign
R8884:Ric3 UTSW 7 108,637,688 (GRCm39) missense probably benign 0.01
R8981:Ric3 UTSW 7 108,657,043 (GRCm39) missense probably damaging 1.00
R9249:Ric3 UTSW 7 108,647,212 (GRCm39) missense probably damaging 1.00
R9274:Ric3 UTSW 7 108,647,212 (GRCm39) missense probably damaging 1.00
R9366:Ric3 UTSW 7 108,653,644 (GRCm39) missense probably damaging 1.00
R9563:Ric3 UTSW 7 108,637,997 (GRCm39) missense possibly damaging 0.89
R9564:Ric3 UTSW 7 108,638,018 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16