Incidental Mutation 'R5636:Ric3'
ID 440373
Institutional Source Beutler Lab
Gene Symbol Ric3
Ensembl Gene ENSMUSG00000048330
Gene Name RIC3 acetylcholine receptor chaperone
Synonyms E130307J04Rik
MMRRC Submission 043287-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R5636 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 108633519-108682538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 108638027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 242 (T242I)
Ref Sequence ENSEMBL: ENSMUSP00000112788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033341] [ENSMUST00000055993] [ENSMUST00000120876] [ENSMUST00000147580]
AlphaFold Q8BPM6
Predicted Effect probably benign
Transcript: ENSMUST00000033341
SMART Domains Protein: ENSMUSP00000033341
Gene: ENSMUSG00000031028

DomainStartEndE-ValueType
Pfam:Tub_N 29 237 2.5e-58 PFAM
Pfam:Tub 257 499 2.4e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000055993
AA Change: T243I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056990
Gene: ENSMUSG00000048330
AA Change: T243I

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: T242I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112788
Gene: ENSMUSG00000048330
AA Change: T242I

DomainStartEndE-ValueType
Pfam:RIC3 15 165 3.9e-52 PFAM
low complexity region 255 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147580
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,922,382 (GRCm39) Q448* probably null Het
Abca5 A G 11: 110,192,362 (GRCm39) Y717H probably benign Het
Abcg2 T A 6: 58,649,041 (GRCm39) D295E probably damaging Het
Accsl C T 2: 93,699,370 (GRCm39) E7K probably benign Het
Acvr2b A G 9: 119,257,375 (GRCm39) Y152C probably damaging Het
Akap13 A G 7: 75,354,120 (GRCm39) E1747G probably damaging Het
Arpp19 C T 9: 74,945,215 (GRCm39) probably benign Het
Atp10d A G 5: 72,445,562 (GRCm39) Y74C probably damaging Het
Atp6v0b T C 4: 117,743,582 (GRCm39) probably benign Het
Bms1 C A 6: 118,365,786 (GRCm39) M1133I probably benign Het
Bysl A C 17: 47,913,648 (GRCm39) D259E probably benign Het
Capn1 A T 19: 6,064,472 (GRCm39) V9E probably benign Het
Cdkl2 T C 5: 92,181,601 (GRCm39) I127V probably benign Het
Cyp2c38 G A 19: 39,426,750 (GRCm39) Q184* probably null Het
Cypt12 C T 3: 18,002,749 (GRCm39) R41C probably benign Het
Dnaaf11 A T 15: 66,372,665 (GRCm39) probably null Het
Fat2 T C 11: 55,173,307 (GRCm39) I2469V probably damaging Het
Fbxo38 A G 18: 62,644,089 (GRCm39) V923A possibly damaging Het
Gm13889 A G 2: 93,787,031 (GRCm39) C148R probably damaging Het
Gpd1 A T 15: 99,619,939 (GRCm39) T223S probably benign Het
Hcrtr1 C A 4: 130,024,738 (GRCm39) G383C possibly damaging Het
Hivep1 C T 13: 42,316,932 (GRCm39) P2047S possibly damaging Het
Islr2 T C 9: 58,108,584 (GRCm39) T35A probably benign Het
Lgr6 T C 1: 134,914,816 (GRCm39) D644G probably benign Het
Mdn1 C T 4: 32,695,480 (GRCm39) T1173I probably damaging Het
Mon1a T C 9: 107,778,439 (GRCm39) V221A probably damaging Het
Mrgprb4 A G 7: 47,848,218 (GRCm39) C237R probably benign Het
Myo1b A G 1: 51,836,687 (GRCm39) M264T probably damaging Het
Naxd A G 8: 11,552,676 (GRCm39) N32S probably benign Het
Nlrp12 A T 7: 3,273,926 (GRCm39) L1010Q probably damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Nuggc A T 14: 65,885,637 (GRCm39) K755* probably null Het
Or2av9 T C 11: 58,380,877 (GRCm39) K235E probably damaging Het
Or9i2 C T 19: 13,815,701 (GRCm39) V279M possibly damaging Het
Pik3ca G A 3: 32,515,709 (GRCm39) R794Q probably damaging Het
Pnp2 A G 14: 51,193,649 (GRCm39) probably null Het
Rnf213 A C 11: 119,327,731 (GRCm39) Q1906P probably damaging Het
Rnf213 G A 11: 119,327,455 (GRCm39) R1814K probably benign Het
Rufy2 T A 10: 62,833,733 (GRCm39) I265N probably damaging Het
Scap G T 9: 110,209,662 (GRCm39) G744C probably damaging Het
Serpinb3c T C 1: 107,202,744 (GRCm39) Q88R possibly damaging Het
Sf3b1 T C 1: 55,036,352 (GRCm39) D907G probably damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc4a3 C T 1: 75,530,860 (GRCm39) L749F possibly damaging Het
Smtn T G 11: 3,467,829 (GRCm39) probably null Het
Spag9 C A 11: 93,959,838 (GRCm39) D342E probably damaging Het
Sptbn5 G A 2: 119,887,885 (GRCm39) probably benign Het
Stam G T 2: 14,122,238 (GRCm39) M112I probably damaging Het
Tex35 C T 1: 156,927,794 (GRCm39) W125* probably null Het
Tmem215 A G 4: 40,474,394 (GRCm39) E157G probably damaging Het
Traf6 G A 2: 101,527,254 (GRCm39) V335M probably benign Het
Ubr5 T A 15: 37,984,240 (GRCm39) K2302N probably damaging Het
Vmn2r78 A G 7: 86,603,637 (GRCm39) H605R probably damaging 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
IGL02318:Ric3 APN 7 108,647,287 (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
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
Predicted Primers PCR Primer
(F):5'- TCTGGTTTGGGATCACACG -3'
(R):5'- GCCAGACTGCTCAGAATTTG -3'

Sequencing Primer
(F):5'- CACGGGGCAACAGAATTATCTTTC -3'
(R):5'- CCAGACTGCTCAGAATTTGTTCAAG -3'
Posted On 2016-11-08