Mutagenetix > Incidental Mutation

Incidental Mutation 'R5441:Fcrla'

427157

Institutional Source

Beutler Lab

Gene Symbol

Fcrla

Ensembl Gene

ENSMUSG00000038421

Gene Name

Fc receptor-like A

Synonyms

mFREB, Freb1, Fcrx, mFcrX, FREB, FCRL1

MMRRC Submission

043006-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

170745163-170755169 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 170752991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046322] [ENSMUST00000159149] [ENSMUST00000159171] [ENSMUST00000162136] [ENSMUST00000162887]

AlphaFold

Q920A9

Predicted Effect

probably benign
Transcript: ENSMUST00000046322

SMART Domains

Protein: ENSMUSP00000036380
Gene: ENSMUSG00000038421

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
IG	95	177	5.75e-4	SMART
IG	188	272	1.4e-7	SMART
low complexity region	281	296	N/A	INTRINSIC
low complexity region	310	323	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159149

SMART Domains

Protein: ENSMUSP00000125074
Gene: ENSMUSG00000038421

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
IG	66	148	5.75e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159171

SMART Domains

Protein: ENSMUSP00000124853
Gene: ENSMUSG00000038421

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	48	61	N/A	INTRINSIC
IG	94	176	5.75e-4	SMART
IG	187	271	1.4e-7	SMART
low complexity region	280	295	N/A	INTRINSIC
low complexity region	309	322	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161050

Predicted Effect

probably benign
Transcript: ENSMUST00000162136

SMART Domains

Protein: ENSMUSP00000124859
Gene: ENSMUSG00000038421

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
Pfam:Ig_2	83	150	2.2e-6	PFAM
Pfam:Ig_2	156	215	1e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162887

SMART Domains

Protein: ENSMUSP00000124469
Gene: ENSMUSG00000038421

Domain	Start	End	E-Value	Type
Pfam:Ig_2	28	78	1.4e-7	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a targeted allele exhibit largely normal T-dependent and T-independent antibody responses with an increase in IgG1 after secondary challenge with sheep red blood cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,334,215 (GRCm39)	Y1096H	probably damaging	Het
Aspa	A	T	11: 73,196,420 (GRCm39)	F261I	probably damaging	Het
Atm	C	A	9: 53,427,767 (GRCm39)	G448*	probably null	Het
Atmin	T	A	8: 117,684,696 (GRCm39)	D785E	probably damaging	Het
Car1	G	C	3: 14,841,364 (GRCm39)	R90G	probably damaging	Het
Cdh11	T	C	8: 103,374,178 (GRCm39)	D520G	probably benign	Het
Cers5	T	A	15: 99,649,119 (GRCm39)	K50*	probably null	Het
Chad	A	T	11: 94,459,118 (GRCm39)	D340V	probably benign	Het
Cspg5	T	C	9: 110,075,711 (GRCm39)	I68T	probably benign	Het
Fcgbpl1	C	T	7: 27,856,339 (GRCm39)	T2042M	probably damaging	Het
Fer1l4	T	A	2: 155,865,177 (GRCm39)	D1608V	probably benign	Het
Fzd5	T	A	1: 64,774,576 (GRCm39)	Q395L	probably benign	Het
Gm7664	T	A	13: 62,676,464 (GRCm39)		probably benign	Het
Hk3	T	C	13: 55,162,869 (GRCm39)	E2G	probably damaging	Het
Hmcn2	G	A	2: 31,296,428 (GRCm39)	E2677K	possibly damaging	Het
Hydin	T	C	8: 111,291,741 (GRCm39)	L3411P	possibly damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Lysmd2	C	T	9: 75,533,254 (GRCm39)	H70Y	possibly damaging	Het
Msi2	A	G	11: 88,370,818 (GRCm39)		probably benign	Het
Msi2	G	A	11: 88,608,921 (GRCm39)		probably benign	Het
Napsa	T	A	7: 44,230,817 (GRCm39)		probably benign	Het
Nlrp4a	T	A	7: 26,153,578 (GRCm39)	L710M	probably damaging	Het
Or10g1	T	A	14: 52,647,414 (GRCm39)	K305M	probably benign	Het
Or12d13	T	C	17: 37,647,159 (GRCm39)		probably null	Het
Or5m13	T	A	2: 85,748,934 (GRCm39)	F222I	probably benign	Het
Or6ae1	T	C	7: 139,742,564 (GRCm39)	T100A	probably benign	Het
Or9a2	C	T	6: 41,748,782 (GRCm39)	M150I	probably benign	Het
Plbd2	T	A	5: 120,637,147 (GRCm39)	Y105F	probably benign	Het
Plppr5	A	T	3: 117,456,120 (GRCm39)	I214F	possibly damaging	Het
Pramel34	A	T	5: 93,784,456 (GRCm39)	M139K	possibly damaging	Het
Ptcd3	A	G	6: 71,858,505 (GRCm39)	V655A	possibly damaging	Het
Ptpn14	T	C	1: 189,530,767 (GRCm39)	L78P	probably damaging	Het
Ralgapa1	A	C	12: 55,766,408 (GRCm39)	D1295E	probably damaging	Het
Rnf213	G	A	11: 119,299,846 (GRCm39)	D192N	probably damaging	Het
Ropn1	A	G	16: 34,487,167 (GRCm39)	I34M	probably damaging	Het
Rpe65	G	T	3: 159,310,038 (GRCm39)	G104C	probably damaging	Het
Scgb2b27	T	C	7: 33,712,582 (GRCm39)		probably benign	Het
Sh3bgr	T	C	16: 96,007,117 (GRCm39)	I29T	possibly damaging	Het
Smg1	T	C	7: 117,794,304 (GRCm39)		probably benign	Het
Stim2	T	A	5: 54,232,712 (GRCm39)	C68*	probably null	Het
Syne2	G	A	12: 76,035,917 (GRCm39)	V3736I	possibly damaging	Het
Tbx19	T	C	1: 164,981,249 (GRCm39)	N82D	probably damaging	Het
Tdp1	T	A	12: 99,876,544 (GRCm39)	V353D	probably damaging	Het
Tg	T	A	15: 66,568,369 (GRCm39)	I1352K	possibly damaging	Het
Thsd4	T	C	9: 59,887,066 (GRCm39)	T919A	probably damaging	Het
Tmprss11f	A	T	5: 86,676,062 (GRCm39)	M373K	probably damaging	Het
Tmprss15	T	A	16: 78,868,335 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Ube2o	G	A	11: 116,435,268 (GRCm39)	R507C	probably damaging	Het
Unc93b1	T	C	19: 3,993,703 (GRCm39)	F382L	probably benign	Het
Vav2	A	T	2: 27,160,122 (GRCm39)		probably benign	Het
Vmn1r207	T	C	13: 22,910,686 (GRCm39)		noncoding transcript	Het
Zan	T	A	5: 137,435,013 (GRCm39)	I2127F	unknown	Het
Zfp748	C	A	13: 67,688,737 (GRCm39)	C841F	probably damaging	Het
Zic4	C	A	9: 91,266,253 (GRCm39)	P299Q	probably damaging	Het

Other mutations in Fcrla

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Fcrla	APN	1	170,755,067 (GRCm39)	missense	probably benign	0.00
IGL01712:Fcrla	APN	1	170,749,192 (GRCm39)	splice site	probably null
IGL03323:Fcrla	APN	1	170,755,114 (GRCm39)	utr 5 prime	probably benign
R0113:Fcrla	UTSW	1	170,749,868 (GRCm39)	start codon destroyed	probably null	0.04
R1457:Fcrla	UTSW	1	170,748,573 (GRCm39)	missense	probably damaging	1.00
R1917:Fcrla	UTSW	1	170,755,095 (GRCm39)	nonsense	probably null
R4331:Fcrla	UTSW	1	170,749,245 (GRCm39)	missense	possibly damaging	0.74
R4819:Fcrla	UTSW	1	170,748,508 (GRCm39)	missense	probably damaging	0.99
R4923:Fcrla	UTSW	1	170,748,682 (GRCm39)	missense	probably damaging	1.00
R5000:Fcrla	UTSW	1	170,749,959 (GRCm39)	missense	probably benign	0.03
R5459:Fcrla	UTSW	1	170,745,738 (GRCm39)	missense	possibly damaging	0.68
R6575:Fcrla	UTSW	1	170,749,797 (GRCm39)	missense	probably damaging	1.00
R7369:Fcrla	UTSW	1	170,749,886 (GRCm39)	missense	probably benign	0.23
R7786:Fcrla	UTSW	1	170,748,426 (GRCm39)	missense	possibly damaging	0.93
R9276:Fcrla	UTSW	1	170,755,135 (GRCm39)	unclassified	probably benign
R9482:Fcrla	UTSW	1	170,745,949 (GRCm39)	missense	probably benign	0.00
R9585:Fcrla	UTSW	1	170,749,868 (GRCm39)	start codon destroyed	probably null	0.04
R9622:Fcrla	UTSW	1	170,749,808 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGGTTCAATGGGAGGTATTATCC -3'
(R):5'- ACTCTCAGGTCAAAATGGCGG -3'

Sequencing Primer
(F):5'- CCTCGTTTTTACAACAGGGAAAAGTG -3'
(R):5'- TCAAAATGGCGGGCCGATC -3'

Posted On

2016-09-01