Mutagenetix > Incidental Mutation

Incidental Mutation 'R4331:Fcrla'

323583

Institutional Source

Beutler Lab

Gene Symbol

Fcrla

Ensembl Gene

ENSMUSG00000038421

Gene Name

Fc receptor-like A

Synonyms

mFREB, Freb1, Fcrx, mFcrX, FREB, FCRL1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4331 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

170745163-170755169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 170749245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 96 (R96Q)

Ref Sequence

ENSEMBL: ENSMUSP00000125074 (fasta)

Gene Model

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

AlphaFold

Q920A9

Predicted Effect

probably benign
Transcript: ENSMUST00000046322
AA Change: R125Q

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036380
Gene: ENSMUSG00000038421
AA Change: R125Q

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

possibly damaging
Transcript: ENSMUST00000159149
AA Change: R96Q

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125074
Gene: ENSMUSG00000038421
AA Change: R96Q

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
AA Change: R124Q

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124853
Gene: ENSMUSG00000038421
AA Change: R124Q

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
AA Change: R99Q

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124859
Gene: ENSMUSG00000038421
AA Change: R99Q

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
AA Change: R63Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000124469
Gene: ENSMUSG00000038421
AA Change: R63Q

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,111,880 (GRCm39)	Y301C	probably damaging	Het
Ahnak	G	A	19: 8,993,184 (GRCm39)	D4823N	probably damaging	Het
Angptl2	A	T	2: 33,118,760 (GRCm39)	D178V	probably damaging	Het
Capn8	A	T	1: 182,432,019 (GRCm39)	D330V	probably damaging	Het
Clec16a	T	C	16: 10,389,533 (GRCm39)	V200A	probably benign	Het
Lrpprc	A	G	17: 85,047,970 (GRCm39)		probably null	Het
Map4k5	A	T	12: 69,874,148 (GRCm39)	S425T	probably benign	Het
Mthfsl	A	G	9: 88,570,834 (GRCm39)	V195A	probably damaging	Het
Myocd	A	T	11: 65,114,590 (GRCm39)	H49Q	probably benign	Het
Nlk	A	G	11: 78,481,774 (GRCm39)	I229T	possibly damaging	Het
Plxna4	G	A	6: 32,127,480 (GRCm39)	Q1876*	probably null	Het
Ramp1	C	T	1: 91,151,067 (GRCm39)	T144I	possibly damaging	Het
Rhbdf2	A	G	11: 116,493,122 (GRCm39)	Y375H	probably damaging	Het
Scpep1	G	A	11: 88,826,729 (GRCm39)	Q236*	probably null	Het
Ssc5d	G	A	7: 4,945,725 (GRCm39)	G919D	probably benign	Het
Vmn1r60	A	T	7: 5,547,364 (GRCm39)	C245*	probably null	Het
Vmn2r103	T	A	17: 20,014,495 (GRCm39)	M429K	probably benign	Het
Zfp28	A	T	7: 6,396,700 (GRCm39)	Q378H	probably benign	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
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
R5441:Fcrla	UTSW	1	170,752,991 (GRCm39)	intron	probably benign
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'- ACCATAGATCTTGATGGTGCTGG -3'
(R):5'- TGAACATTGCTTGGGACTTCC -3'

Sequencing Primer
(F):5'- ATAGATCTTGATGGTGCTGGTCTCTC -3'
(R):5'- GGACTTCCTAAGGGATGCG -3'

Posted On

2015-06-24