Mutagenetix > Incidental Mutation

Incidental Mutation 'R9249:Ric3'

701431

Institutional Source

Beutler Lab

Gene Symbol

Ric3

Ensembl Gene

ENSMUSG00000048330

Gene Name

RIC3 acetylcholine receptor chaperone

Synonyms

E130307J04Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108633519-108682538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108647212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 204 (D204N)

Ref Sequence

ENSEMBL: ENSMUSP00000056990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055993] [ENSMUST00000120876] [ENSMUST00000147580]

AlphaFold

Q8BPM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000055993
AA Change: D204N

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

SMART Domains

Protein: ENSMUSP00000056990
Gene: ENSMUSG00000048330
AA Change: D204N

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: D203N

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

SMART Domains

Protein: ENSMUSP00000112788
Gene: ENSMUSG00000048330
AA Change: D203N

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: 99.7%
20x: 98.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,220,165 (GRCm39)		probably benign	Het
Arfgef2	T	C	2: 166,733,690 (GRCm39)	F1650S	probably damaging	Het
Bscl2	A	T	19: 8,820,378 (GRCm39)	D133V	probably damaging	Het
Cacna1c	T	C	6: 118,590,288 (GRCm39)	Y1564C		Het
Ccdc182	T	C	11: 88,185,178 (GRCm39)	V86A	probably benign	Het
Cd44	T	G	2: 102,661,747 (GRCm39)	T616P	possibly damaging	Het
Cep152	C	T	2: 125,405,904 (GRCm39)	E1543K	probably benign	Het
Chpf2	C	A	5: 24,794,235 (GRCm39)	T135K	probably damaging	Het
Cntn4	C	T	6: 106,466,722 (GRCm39)	P208L	possibly damaging	Het
Col6a3	T	A	1: 90,707,020 (GRCm39)	Y2638F	unknown	Het
Csmd2	C	A	4: 128,313,323 (GRCm39)	Y1333*	probably null	Het
Cyp3a25	T	C	5: 145,928,356 (GRCm39)	T230A	possibly damaging	Het
Dbndd2	T	C	2: 164,328,077 (GRCm39)		probably benign	Het
Ecpas	T	C	4: 58,869,427 (GRCm39)	K280R	probably damaging	Het
Egfl8	C	A	17: 34,833,491 (GRCm39)	A133S	probably benign	Het
Fasn	T	C	11: 120,703,915 (GRCm39)	H1475R	probably benign	Het
Gdpd5	T	C	7: 99,107,989 (GRCm39)	L522P	probably damaging	Het
Gzmd	T	G	14: 56,368,790 (GRCm39)	M35L	probably damaging	Het
Herc2	T	A	7: 55,762,890 (GRCm39)	L873Q	probably damaging	Het
Hsd3b6	T	C	3: 98,713,679 (GRCm39)	K207E	probably benign	Het
Ikbkb	T	A	8: 23,171,735 (GRCm39)	K171*	probably null	Het
Il21	T	A	3: 37,279,677 (GRCm39)		probably null	Het
Itga1	T	C	13: 115,185,834 (GRCm39)	N56S	probably damaging	Het
Map1lc3b	T	C	8: 122,322,833 (GRCm39)		probably null	Het
Mapk13	A	G	17: 28,988,490 (GRCm39)	Y36C	probably damaging	Het
Myh3	C	T	11: 66,975,855 (GRCm39)	P296S	probably benign	Het
Myo5a	A	G	9: 75,097,279 (GRCm39)	N1319S	possibly damaging	Het
Myot	T	C	18: 44,479,265 (GRCm39)	V334A	probably benign	Het
Ncor2	T	C	5: 125,186,988 (GRCm39)	E12G	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nphs2	G	A	1: 156,144,416 (GRCm39)	R140Q	probably damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nvl	A	G	1: 180,962,593 (GRCm39)	Y126H	probably damaging	Het
Or1j14	T	C	2: 36,417,559 (GRCm39)	I45T	probably damaging	Het
Or5w1	A	T	2: 87,486,660 (GRCm39)	F202I	probably benign	Het
Or8g29-ps1	T	A	9: 39,200,602 (GRCm39)	N195Y	unknown	Het
Or8g36	A	T	9: 39,422,149 (GRCm39)	I289N	probably damaging	Het
Osbpl8	T	A	10: 111,122,012 (GRCm39)	D651E	probably benign	Het
Papola	T	A	12: 105,799,403 (GRCm39)	H677Q	probably benign	Het
Pcbp3	T	C	10: 76,635,377 (GRCm39)	S59G	probably benign	Het
Pkd1l2	T	A	8: 117,746,159 (GRCm39)	I1944F	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Polb	A	T	8: 23,143,084 (GRCm39)	N37K	probably benign	Het
Ppfia2	T	C	10: 106,749,429 (GRCm39)	V1105A	probably damaging	Het
Scn8a	A	G	15: 100,914,456 (GRCm39)	D1154G	probably benign	Het
Sdk1	C	A	5: 142,129,550 (GRCm39)	N1590K	probably damaging	Het
Sec31a	C	A	5: 100,533,083 (GRCm39)	R163L	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Serpina3i	C	T	12: 104,231,728 (GRCm39)	Q122*	probably null	Het
Sgo2b	A	C	8: 64,391,407 (GRCm39)	Y153*	probably null	Het
Sgsm1	T	A	5: 113,428,201 (GRCm39)	H329L	possibly damaging	Het
Sh3tc2	A	C	18: 62,107,598 (GRCm39)	N203T	possibly damaging	Het
Skint8	C	A	4: 111,794,159 (GRCm39)	T183K	probably damaging	Het
Slc6a20a	T	C	9: 123,507,941 (GRCm39)		probably benign	Het
Slc8a2	T	C	7: 15,891,156 (GRCm39)	F732S	probably damaging	Het
Spata16	T	C	3: 26,787,030 (GRCm39)	V236A	possibly damaging	Het
Stard5	A	G	7: 83,281,253 (GRCm39)	D2G	probably damaging	Het
Stk25	T	C	1: 93,552,806 (GRCm39)	S328G	probably benign	Het
Tmem39b	A	T	4: 129,572,468 (GRCm39)	M378K	probably damaging	Het
Tspan10	T	C	11: 120,337,051 (GRCm39)	F274L	probably benign	Het
Tssk1	A	T	16: 17,712,724 (GRCm39)	I170L	probably benign	Het
Vmn1r6	A	G	6: 56,979,760 (GRCm39)	R141G	probably benign	Het
Wdfy3	A	G	5: 101,996,359 (GRCm39)	S3168P	possibly damaging	Het
Zfp458	T	A	13: 67,405,218 (GRCm39)	H407L	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
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
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'- GGACCATCCTGCACAATTAATAAATA -3'
(R):5'- GGTCCGAACAGATCATGGTG -3'

Sequencing Primer
(F):5'- ACTTCCTAGGGTGATGAAATTGCCC -3'
(R):5'- CCGAACAGATCATGGTGAAGTTTTTC -3'

Posted On

2022-03-25