Mutagenetix > Incidental Mutation

Incidental Mutation 'R8884:Ric3'

677165

Institutional Source

Beutler Lab

Gene Symbol

Ric3

Ensembl Gene

ENSMUSG00000048330

Gene Name

RIC3 acetylcholine receptor chaperone

Synonyms

E130307J04Rik

MMRRC Submission

068690-MU

Accession Numbers

Essential gene?

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

Stock #

R8884 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108633519-108682538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108637688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 356 (G356D)

Ref Sequence

ENSEMBL: ENSMUSP00000056990 (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 benign
Transcript: ENSMUST00000055993
AA Change: G356D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000056990
Gene: ENSMUSG00000048330
AA Change: G356D

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 benign
Transcript: ENSMUST00000120876
AA Change: G355D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000112788
Gene: ENSMUSG00000048330
AA Change: G355D

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,354 (GRCm39)	F168Y	probably damaging	Het
4932438H23Rik	T	C	16: 90,852,737 (GRCm39)	Y133C	probably damaging	Het
Aasdh	A	G	5: 77,039,641 (GRCm39)	S223P	possibly damaging	Het
Abca8a	T	C	11: 109,964,941 (GRCm39)	D453G	possibly damaging	Het
Acsl6	T	A	11: 54,236,728 (GRCm39)	F541I	probably damaging	Het
Agfg1	A	T	1: 82,860,110 (GRCm39)	K326*	probably null	Het
Aldh1l2	T	C	10: 83,344,541 (GRCm39)	N448S	probably benign	Het
Alx4	A	G	2: 93,473,355 (GRCm39)	K118E	possibly damaging	Het
Atp9b	T	A	18: 80,838,562 (GRCm39)	T451S		Het
B4galt6	A	T	18: 20,822,072 (GRCm39)	N307K	probably benign	Het
Cacna1s	G	A	1: 136,042,981 (GRCm39)	M1569I	probably benign	Het
Cacng6	C	T	7: 3,478,984 (GRCm39)	T121I	probably damaging	Het
Cdc5l	C	A	17: 45,744,467 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 110,027,860 (GRCm39)	D535V	probably damaging	Het
Chrnb3	T	C	8: 27,883,946 (GRCm39)	F228L	possibly damaging	Het
Clca3a1	A	T	3: 144,719,757 (GRCm39)	D404E	probably benign	Het
Commd8	G	A	5: 72,325,514 (GRCm39)		probably benign	Het
Cpn1	T	A	19: 43,954,615 (GRCm39)	Q337L	possibly damaging	Het
Dctn6	T	C	8: 34,557,933 (GRCm39)	T180A	probably benign	Het
Ddx60	A	G	8: 62,447,553 (GRCm39)	E1180G	possibly damaging	Het
Dock4	T	A	12: 40,856,884 (GRCm39)	L1239Q	probably damaging	Het
Dop1b	T	C	16: 93,556,550 (GRCm39)	I469T	probably benign	Het
Enpep	A	T	3: 129,115,052 (GRCm39)	I240N	possibly damaging	Het
Fat3	G	A	9: 15,941,280 (GRCm39)	T1337I	probably damaging	Het
Fbxw13	T	A	9: 109,010,469 (GRCm39)	M390L	probably benign	Het
Fgr	C	T	4: 132,713,609 (GRCm39)	P46S	probably benign	Het
Galnt1	T	A	18: 24,400,641 (GRCm39)	M249K	probably benign	Het
Gm40460	A	T	7: 141,794,555 (GRCm39)	C87*	probably null	Het
Hcn4	C	T	9: 58,760,705 (GRCm39)	R417C	unknown	Het
Insr	T	C	8: 3,205,679 (GRCm39)	N1370S	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,414,089 (GRCm39)	E722K		Het
Larp6	G	A	9: 60,620,682 (GRCm39)	G65E		Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Muc16	G	A	9: 18,555,496 (GRCm39)	T3599I	unknown	Het
Muc5b	T	C	7: 141,403,156 (GRCm39)	F706L	unknown	Het
Nbea	A	T	3: 55,712,720 (GRCm39)	M2119K	probably benign	Het
Or13a18	C	T	7: 140,190,616 (GRCm39)	P171L	probably damaging	Het
Or13a24	A	T	7: 140,154,224 (GRCm39)	T53S	probably benign	Het
Paip1	G	A	13: 119,574,553 (GRCm39)	V83I	probably damaging	Het
Pdcd1lg2	G	T	19: 29,423,318 (GRCm39)		probably null	Het
Pde7a	G	A	3: 19,281,858 (GRCm39)	A464V	probably benign	Het
Pfkfb2	A	G	1: 130,634,213 (GRCm39)	F155L	probably damaging	Het
Pimreg	A	G	11: 71,936,513 (GRCm39)	D192G	possibly damaging	Het
Prkd3	T	C	17: 79,282,193 (GRCm39)	D320G	probably damaging	Het
Rgs7	A	G	1: 174,980,730 (GRCm39)	V98A	probably benign	Het
Rsph4a	T	C	10: 33,781,840 (GRCm39)		probably benign	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sez6l	T	C	5: 112,622,910 (GRCm39)	T214A	probably damaging	Het
Sipa1l1	T	G	12: 82,409,871 (GRCm39)	V595G	probably damaging	Het
Spata31h1	T	A	10: 82,119,486 (GRCm39)	H4508L	probably damaging	Het
Spta1	G	T	1: 174,045,254 (GRCm39)		probably null	Het
Ssbp2	A	G	13: 91,836,989 (GRCm39)		probably benign	Het
Syne1	T	G	10: 5,181,822 (GRCm39)	Q4171P	possibly damaging	Het
Tgfb2	G	A	1: 186,364,907 (GRCm39)	T232I	probably damaging	Het
Tmem175	A	G	5: 108,794,327 (GRCm39)	S486G	probably benign	Het
Tmprss15	A	G	16: 78,821,657 (GRCm39)	V466A	probably benign	Het
Treh	C	G	9: 44,595,800 (GRCm39)		probably benign	Het
Ttc14	A	G	3: 33,854,696 (GRCm39)	S8G	unknown	Het
Ttc32	T	A	12: 9,088,083 (GRCm39)	D103E	probably benign	Het
Vmn1r44	T	C	6: 89,870,458 (GRCm39)	L68P	probably damaging	Het
Vmn2r37	T	G	7: 9,218,916 (GRCm39)	L489F	probably benign	Het
Vmn2r52	T	A	7: 9,892,734 (GRCm39)	T802S	probably damaging	Het
Wsb2	T	A	5: 117,508,769 (GRCm39)	F68I	probably benign	Het
Zbtb8os	T	C	4: 129,236,924 (GRCm39)	V113A	probably benign	Het
Zfp354a	A	T	11: 50,950,805 (GRCm39)		probably benign	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
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
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'- GTCCCGTGTTCACACTACTG -3'
(R):5'- ATGCTCCTGCTGTGTTCATG -3'

Sequencing Primer
(F):5'- CACCGGGAAGGATTAGCTGTATCC -3'
(R):5'- CTGTGTTCATGAAGAGGAGGATCC -3'

Posted On

2021-08-02