Mutagenetix > Incidental Mutation

Incidental Mutation 'R2291:Ric3'

244352

Institutional Source

Beutler Lab

Gene Symbol

Ric3

Ensembl Gene

ENSMUSG00000048330

Gene Name

RIC3 acetylcholine receptor chaperone

Synonyms

E130307J04Rik

MMRRC Submission

040290-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R2291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108633519-108682538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108638090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 221 (G221D)

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

Domain	Start	End	E-Value	Type
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: G222D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056990
Gene: ENSMUSG00000048330
AA Change: G222D

Domain	Start	End	E-Value	Type
Pfam:RIC3	15	165	1.2e-38	PFAM
low complexity region	256	272	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120876
AA Change: G221D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112788
Gene: ENSMUSG00000048330
AA Change: G221D

Domain	Start	End	E-Value	Type
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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,207,450 (GRCm39)	I247N	probably damaging	Het
Afdn	A	G	17: 14,109,153 (GRCm39)	K1559E	probably damaging	Het
Ankhd1	C	T	18: 36,777,386 (GRCm39)	T1523I	probably benign	Het
Apc	T	A	18: 34,445,544 (GRCm39)	N795K	probably benign	Het
Arhgap26	G	T	18: 39,490,751 (GRCm39)		probably benign	Het
Atm	C	T	9: 53,402,209 (GRCm39)		probably null	Het
Atp1a4	T	C	1: 172,072,473 (GRCm39)	N394D	probably damaging	Het
Brinp3	T	A	1: 146,776,812 (GRCm39)	S420T	possibly damaging	Het
Cacna1d	G	T	14: 29,764,299 (GRCm39)	R2078S	probably damaging	Het
Cacna1e	T	C	1: 154,279,429 (GRCm39)	D1720G	probably damaging	Het
Camk2a	T	A	18: 61,097,031 (GRCm39)	V38E	probably damaging	Het
Camk4	G	A	18: 33,240,996 (GRCm39)		probably null	Het
Ccr7	G	A	11: 99,036,161 (GRCm39)	R254C	probably damaging	Het
Celf5	C	T	10: 81,302,881 (GRCm39)	G267D	probably damaging	Het
Cfap65	G	A	1: 74,965,634 (GRCm39)	P459S	probably damaging	Het
Chd1l	T	C	3: 97,498,599 (GRCm39)	K267E	probably damaging	Het
Chl1	T	A	6: 103,692,354 (GRCm39)	Y331N	probably damaging	Het
Cltc	G	A	11: 86,624,448 (GRCm39)	T158I	probably benign	Het
Col16a1	T	A	4: 129,960,833 (GRCm39)	D430E	unknown	Het
Cspg4	T	C	9: 56,800,027 (GRCm39)	V1597A	probably damaging	Het
Cstf2t	T	A	19: 31,062,264 (GRCm39)	L600H	probably benign	Het
Cyp27b1	T	C	10: 126,884,163 (GRCm39)	V5A	possibly damaging	Het
Depdc5	C	A	5: 33,136,746 (GRCm39)	Q1339K	probably damaging	Het
Diaph3	G	T	14: 87,203,882 (GRCm39)	P592Q	probably damaging	Het
Dync2i1	A	T	12: 116,193,191 (GRCm39)		probably null	Het
Epha8	T	C	4: 136,660,658 (GRCm39)	M687V	probably damaging	Het
Fhod1	T	A	8: 106,063,596 (GRCm39)		probably benign	Het
Gls2	C	A	10: 128,043,479 (GRCm39)	S73*	probably null	Het
Gm3604	T	A	13: 62,519,657 (GRCm39)	M33L	probably damaging	Het
Gpr39	A	G	1: 125,605,278 (GRCm39)	T69A	probably benign	Het
Hal	T	C	10: 93,339,398 (GRCm39)	F496L	probably damaging	Het
Hipk1	T	C	3: 103,668,926 (GRCm39)	E490G	probably damaging	Het
Ints7	T	G	1: 191,338,315 (GRCm39)		probably null	Het
Itpr3	A	G	17: 27,332,553 (GRCm39)	E1799G	possibly damaging	Het
Kif11	T	A	19: 37,395,451 (GRCm39)	M570K	probably benign	Het
Kif18b	G	T	11: 102,799,096 (GRCm39)	Q702K	probably damaging	Het
Kif19a	A	G	11: 114,681,019 (GRCm39)	T247A	probably damaging	Het
Lama3	A	G	18: 12,658,136 (GRCm39)	E360G	probably damaging	Het
Loxl3	G	T	6: 83,014,469 (GRCm39)	A126S	probably benign	Het
Mc5r	C	T	18: 68,472,435 (GRCm39)	R265W	probably damaging	Het
Mpl	A	G	4: 118,306,197 (GRCm39)	V340A	probably benign	Het
Mrpl13	G	T	15: 55,411,615 (GRCm39)	H56Q	probably damaging	Het
Msr1	T	C	8: 40,077,263 (GRCm39)	T116A	probably benign	Het
N4bp3	T	C	11: 51,536,930 (GRCm39)	K48E	probably damaging	Het
Naaladl1	A	G	19: 6,156,225 (GRCm39)	T104A	probably benign	Het
Neu1	C	T	17: 35,151,742 (GRCm39)	R179W	probably damaging	Het
Or10d5	T	C	9: 39,861,630 (GRCm39)	T146A	probably benign	Het
Or8k21	A	T	2: 86,145,524 (GRCm39)	Y35*	probably null	Het
Osbp	G	T	19: 11,951,198 (GRCm39)	E248*	probably null	Het
Otx1	T	A	11: 21,946,634 (GRCm39)		probably benign	Het
Parp4	A	T	14: 56,851,274 (GRCm39)	Q759L	probably damaging	Het
Pax6	A	C	2: 105,516,228 (GRCm39)	S169R	probably benign	Het
Pigg	T	G	5: 108,480,783 (GRCm39)	I389M	probably damaging	Het
Pla2g4a	C	A	1: 149,776,940 (GRCm39)	V59F	probably damaging	Het
Plcb4	A	T	2: 135,781,903 (GRCm39)	Q241H	probably benign	Het
Plpp6	A	G	19: 28,941,720 (GRCm39)	D107G	probably damaging	Het
Ppp6r2	T	A	15: 89,159,690 (GRCm39)	L459Q	probably damaging	Het
Prss55	A	T	14: 64,313,171 (GRCm39)	W238R	probably damaging	Het
Rgl1	C	T	1: 152,412,032 (GRCm39)	E446K	probably damaging	Het
Rnf167	T	C	11: 70,540,129 (GRCm39)	F83S	probably damaging	Het
Ryr1	C	T	7: 28,798,202 (GRCm39)	V947M	probably damaging	Het
Scn1a	A	G	2: 66,119,312 (GRCm39)	L1397P	probably benign	Het
Sh3bp1	T	A	15: 78,802,519 (GRCm39)	V251E	possibly damaging	Het
Slc25a10	A	T	11: 120,387,900 (GRCm39)	I198L	probably benign	Het
Smoc2	A	T	17: 14,589,233 (GRCm39)	N234I	possibly damaging	Het
Spdl1	T	A	11: 34,710,136 (GRCm39)	K382*	probably null	Het
Ssrp1	G	A	2: 84,872,660 (GRCm39)		probably null	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Triqk	T	A	4: 12,974,817 (GRCm39)		probably null	Het
Ttc19	T	C	11: 62,174,519 (GRCm39)	Y128H	probably damaging	Het
Vmn1r15	T	C	6: 57,235,677 (GRCm39)	S182P	possibly damaging	Het
Vmn1r226	A	G	17: 20,908,475 (GRCm39)	I236V	probably damaging	Het
Vmn2r120	A	C	17: 57,816,479 (GRCm39)	N625K	probably damaging	Het
Vmn2r78	T	C	7: 86,569,362 (GRCm39)	I85T	probably damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Wnt7a	C	T	6: 91,371,468 (GRCm39)	V165I	probably benign	Het
Zbtb40	A	T	4: 136,712,328 (GRCm39)	Y1127N	possibly damaging	Het
Zfyve1	A	T	12: 83,594,705 (GRCm39)	H762Q	probably damaging	Het

Other mutations in Ric3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TCTGGTTTGGGATCACACGG -3'
(R):5'- GCCAGACTGCTCAGAATTTG -3'

Sequencing Primer
(F):5'- CACGGGGCAACAGAATTATCTTTC -3'
(R):5'- CCAGACTGCTCAGAATTTGTTCAAG -3'

Posted On

2014-10-30