Mutagenetix > Incidental Mutation

Incidental Mutation 'R5039:Ric3'

395701

Institutional Source

Beutler Lab

Gene Symbol

Ric3

Ensembl Gene

ENSMUSG00000048330

Gene Name

RIC3 acetylcholine receptor chaperone

Synonyms

E130307J04Rik

MMRRC Submission

042629-MU

Accession Numbers

Essential gene?

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

Stock #

R5039 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108633519-108682538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 108637930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 274 (S274R)

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 benign
Transcript: ENSMUST00000055993
AA Change: S275R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056990
Gene: ENSMUSG00000048330
AA Change: S275R

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: S274R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112788
Gene: ENSMUSG00000048330
AA Change: S274R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (61/61)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	G	A	9: 44,192,863 (GRCm39)	A161V	probably damaging	Het
Anapc2	T	C	2: 25,164,808 (GRCm39)	I64T	possibly damaging	Het
Arfgef1	T	C	1: 10,269,961 (GRCm39)	D396G	probably benign	Het
Ark2c	A	G	18: 77,550,608 (GRCm39)	S107P	probably damaging	Het
Axl	C	T	7: 25,485,340 (GRCm39)	V163M	probably damaging	Het
Blm	G	A	7: 80,155,621 (GRCm39)	P353S	possibly damaging	Het
Btaf1	T	C	19: 36,968,162 (GRCm39)	Y1116H	probably benign	Het
Ccdc18	T	A	5: 108,306,514 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,890,429 (GRCm39)		probably null	Het
Cdhr1	T	C	14: 36,801,600 (GRCm39)	N781S	probably benign	Het
Ctr9	C	A	7: 110,642,064 (GRCm39)	H297Q	probably benign	Het
Cyp2c55	A	G	19: 39,026,587 (GRCm39)	D398G	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dnmt3l	T	C	10: 77,888,734 (GRCm39)		probably null	Het
Dock4	C	A	12: 40,867,745 (GRCm39)	N1440K	probably damaging	Het
Etnk1	T	A	6: 143,141,043 (GRCm39)		probably null	Het
Fam120a	A	T	13: 49,063,726 (GRCm39)		probably null	Het
Fanca	T	C	8: 124,010,785 (GRCm39)	D908G	probably benign	Het
Gm17535	T	A	9: 3,035,786 (GRCm39)	L218H	probably benign	Het
Gm3633	A	C	14: 42,461,161 (GRCm39)	N42K	possibly damaging	Het
Gm4781	C	A	10: 100,232,851 (GRCm39)		noncoding transcript	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Gpr139	A	G	7: 118,744,165 (GRCm39)	V140A	probably benign	Het
Ighv1-62-3	G	T	12: 115,425,014 (GRCm39)	T13K	probably benign	Het
Itgb2l	T	C	16: 96,226,205 (GRCm39)	T629A	possibly damaging	Het
Kcnb2	T	C	1: 15,779,724 (GRCm39)	S199P	probably damaging	Het
Kdm1b	G	A	13: 47,230,962 (GRCm39)	G663D	probably damaging	Het
Lama1	A	G	17: 68,052,888 (GRCm39)	D407G	possibly damaging	Het
Macf1	T	C	4: 123,405,013 (GRCm39)	K391R	probably damaging	Het
Magi3	A	T	3: 104,013,107 (GRCm39)	S127T	probably damaging	Het
Map2	A	T	1: 66,477,955 (GRCm39)	D1759V	probably damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Myrfl	T	C	10: 116,658,616 (GRCm39)	D447G	probably damaging	Het
Ndufb7	A	G	8: 84,298,094 (GRCm39)		probably benign	Het
Nt5e	T	A	9: 88,245,634 (GRCm39)	N301K	probably benign	Het
Or10d4b	A	T	9: 39,534,856 (GRCm39)	T146S	possibly damaging	Het
Or8g27	T	A	9: 39,129,410 (GRCm39)	Y252*	probably null	Het
Pcdh10	A	G	3: 45,336,296 (GRCm39)	N870S	probably damaging	Het
Pcdh18	A	G	3: 49,709,305 (GRCm39)	V670A	probably benign	Het
Phf8-ps	A	C	17: 33,286,734 (GRCm39)	C23G	probably damaging	Het
Polr1c	G	T	17: 46,558,635 (GRCm39)		probably benign	Het
Rimbp3	A	G	16: 17,031,195 (GRCm39)	T1540A	probably damaging	Het
Rp1l1	A	T	14: 64,268,805 (GRCm39)	M1464L	probably benign	Het
Slc41a3	A	G	6: 90,603,399 (GRCm39)	Y140C	probably damaging	Het
Ssb	A	T	2: 69,696,581 (GRCm39)	E38D	possibly damaging	Het
Syt14	A	T	1: 192,709,292 (GRCm39)	I16N	probably damaging	Het
Tet3	T	C	6: 83,352,878 (GRCm39)	T973A	probably damaging	Het
Tial1	T	C	7: 128,045,692 (GRCm39)		probably benign	Het
Tnfrsf1a	A	G	6: 125,337,675 (GRCm39)	T89A	possibly damaging	Het
Trpv5	T	C	6: 41,652,879 (GRCm39)	Y98C	possibly damaging	Het
Ylpm1	T	A	12: 85,062,267 (GRCm39)	S265T	probably damaging	Het
Ylpm1	A	G	12: 85,089,013 (GRCm39)	D1006G	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
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
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'- TGCATTATCAGTGCTGACTCC -3'
(R):5'- CCTCTCTAGGTTACCCAGAAGAG -3'

Sequencing Primer
(F):5'- AAAGTCCTGGGGCAAGTTTTCC -3'
(R):5'- TAGGTTACCCAGAAGAGACTTATCC -3'

Posted On

2016-06-21