Mutagenetix > Incidental Mutation

Incidental Mutation 'R9274:Ric3'

703165

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 #

R9274 (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 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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (65/65)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	A	T	2: 113,879,752 (GRCm39)	S236T	probably benign	Het
Adam30	A	G	3: 98,069,267 (GRCm39)	T239A	probably benign	Het
Aoc1l2	T	C	6: 48,907,341 (GRCm39)	F114L	possibly damaging	Het
Ascl2	G	A	7: 142,521,753 (GRCm39)	R232C	probably damaging	Het
Atp10a	C	A	7: 58,478,369 (GRCm39)	Q1471K	probably benign	Het
Avl9	T	A	6: 56,720,346 (GRCm39)	D461E	probably damaging	Het
Baiap3	T	A	17: 25,463,354 (GRCm39)	Y983F	probably damaging	Het
C1rl	A	G	6: 124,485,483 (GRCm39)	S285G	probably benign	Het
Cacna1i	G	A	15: 80,254,354 (GRCm39)	V772M	probably damaging	Het
Ccser2	T	A	14: 36,660,737 (GRCm39)	D472V	possibly damaging	Het
Cd244a	T	G	1: 171,401,928 (GRCm39)	V218G	probably benign	Het
Cdhr1	T	C	14: 36,802,564 (GRCm39)	K633R	probably benign	Het
Col14a1	A	G	15: 55,381,671 (GRCm39)	Q1748R	probably damaging	Het
Col6a3	T	A	1: 90,707,020 (GRCm39)	Y2638F	unknown	Het
Crnkl1	A	T	2: 145,765,836 (GRCm39)	F411L	probably damaging	Het
Crp	T	A	1: 172,526,072 (GRCm39)	F52L	possibly damaging	Het
Dnah12	A	G	14: 26,537,374 (GRCm39)	N2208D	probably benign	Het
Exd2	T	C	12: 80,539,674 (GRCm39)		probably null	Het
F13a1	A	T	13: 37,052,761 (GRCm39)	I726N	probably damaging	Het
Fmo6	G	A	1: 162,747,921 (GRCm39)	T381I	probably benign	Het
Gdpd5	T	C	7: 99,107,989 (GRCm39)	L522P	probably damaging	Het
Gm12790	T	A	4: 101,824,743 (GRCm39)	D175V	possibly damaging	Het
Gm3543	T	C	14: 41,802,125 (GRCm39)	R120G	probably damaging	Het
Gpatch2	T	A	1: 186,963,029 (GRCm39)	D273E	probably damaging	Het
Hlcs	A	G	16: 94,088,785 (GRCm39)	S66P	possibly damaging	Het
Hmcn1	T	C	1: 150,506,046 (GRCm39)	T3827A	probably benign	Het
Ism2	G	A	12: 87,331,827 (GRCm39)	Q237*	probably null	Het
Jph2	G	A	2: 163,239,547 (GRCm39)		probably benign	Het
Kcnb2	A	G	1: 15,781,723 (GRCm39)	Q865R	probably benign	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kcnk9	A	G	15: 72,384,224 (GRCm39)	V318A	unknown	Het
Lemd3	G	A	10: 120,814,717 (GRCm39)	A172V	possibly damaging	Het
Lifr	G	T	15: 7,217,591 (GRCm39)	A840S	probably damaging	Het
Lnpep	T	C	17: 17,758,837 (GRCm39)	T836A	probably benign	Het
Mapk13	A	G	17: 28,988,490 (GRCm39)	Y36C	probably damaging	Het
Mdm2	G	A	10: 117,541,081 (GRCm39)		probably benign	Het
Msmb	T	C	14: 31,870,130 (GRCm39)	M34T	probably benign	Het
Myo5a	A	G	9: 75,097,279 (GRCm39)	N1319S	possibly damaging	Het
Myot	T	A	18: 44,479,265 (GRCm39)	V334E	probably damaging	Het
Nalcn	A	G	14: 123,753,068 (GRCm39)	I306T	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nphp4	T	C	4: 152,640,056 (GRCm39)	Y981H	probably benign	Het
Nphs2	G	A	1: 156,144,416 (GRCm39)	R140Q	probably damaging	Het
Nsa2	C	T	13: 97,272,170 (GRCm39)	R17H	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Obox6	T	C	7: 15,567,766 (GRCm39)	H227R	possibly damaging	Het
Or10ak14	G	A	4: 118,610,883 (GRCm39)	A286V	probably benign	Het
Or1j14	T	C	2: 36,417,559 (GRCm39)	I45T	probably damaging	Het
Or4c1	A	C	2: 89,133,513 (GRCm39)	L141R	probably damaging	Het
P2rx2	C	T	5: 110,489,709 (GRCm39)	G202D	probably damaging	Het
Pcdh12	A	G	18: 38,415,950 (GRCm39)	W392R	probably damaging	Het
Plxna2	G	A	1: 194,471,136 (GRCm39)	G969D	probably damaging	Het
Prg4	T	C	1: 150,331,924 (GRCm39)	T250A	possibly damaging	Het
Rad54l	G	T	4: 115,967,667 (GRCm39)	P205Q	probably damaging	Het
Ralgapb	A	G	2: 158,278,539 (GRCm39)	I334M	probably damaging	Het
Rnf10	A	T	5: 115,385,322 (GRCm39)	Y557*	probably null	Het
Ruvbl1	A	G	6: 88,474,334 (GRCm39)	I446V	probably benign	Het
Serinc3	A	T	2: 163,468,371 (GRCm39)	V361D	probably damaging	Het
Slc4a1	C	A	11: 102,242,047 (GRCm39)	V864L	probably benign	Het
Slf1	C	A	13: 77,191,669 (GRCm39)	*1055L	probably null	Het
Stk25	T	C	1: 93,552,806 (GRCm39)	S328G	probably benign	Het
Stpg1	T	C	4: 135,252,782 (GRCm39)	F178L	possibly damaging	Het
Tmem25	C	T	9: 44,706,336 (GRCm39)	R345H	probably benign	Het
Tssk1	A	T	16: 17,712,724 (GRCm39)	I170L	probably benign	Het
Tubg1	A	G	11: 101,017,241 (GRCm39)		probably benign	Het
Uchl3	A	G	14: 101,903,240 (GRCm39)	D33G	probably damaging	Het
Vmn1r152	A	T	7: 22,223,056 (GRCm39)	H222L	probably benign	Het
Zfp975	C	T	7: 42,312,299 (GRCm39)	V105I	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
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
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'- GGACCATCCTGCACAATTAATAAATAT -3'
(R):5'- GGTCCGAACAGATCATGGTGA -3'

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

Posted On

2022-03-25