Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01712:Fcrla'

104805

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fcrla

Ensembl Gene

ENSMUSG00000038421

Gene Name

Fc receptor-like A

Synonyms

FREB, Fcrx, Freb1, mFcrX, mFREB, FCRL1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01712

Quality Score

Status

Chromosome

Chromosomal Location

170917576-170927583 bp(-) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 170921623 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124469 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000046322
AA Change: M143V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036380
Gene: ENSMUSG00000038421
AA Change: M143V

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
AA Change: M114V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000125074
Gene: ENSMUSG00000038421
AA Change: M114V

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: M142V

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

SMART Domains

Protein: ENSMUSP00000124853
Gene: ENSMUSG00000038421
AA Change: M142V

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: M117V

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

SMART Domains

Protein: ENSMUSP00000124859
Gene: ENSMUSG00000038421
AA Change: M117V

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 null
Transcript: ENSMUST00000162887

SMART Domains

Protein: ENSMUSP00000124469
Gene: ENSMUSG00000038421

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

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,826,279	V161A	probably benign	Het
Arhgdib	G	A	6: 136,924,197	T178M	probably damaging	Het
Atp11a	T	A	8: 12,851,138	I989K	probably benign	Het
Bcam	T	C	7: 19,758,767	S498G	probably damaging	Het
Bcas3	A	G	11: 85,581,048	I728V	probably damaging	Het
Cep57	G	T	9: 13,813,417	P119Q	possibly damaging	Het
Clip4	T	A	17: 71,799,041	I73N	probably damaging	Het
Cpa4	A	G	6: 30,590,816	D371G	possibly damaging	Het
Dnah7a	A	G	1: 53,423,270	S3721P	probably benign	Het
Fam166a	T	C	2: 25,218,792		probably benign	Het
Foxg1	T	C	12: 49,385,620	S379P	possibly damaging	Het
Gatm	T	A	2: 122,600,825	Y227F	possibly damaging	Het
Gm8298	T	A	3: 59,868,900	I164N	possibly damaging	Het
Grid2	A	T	6: 64,665,915	D887V	possibly damaging	Het
Gtpbp6	A	T	5: 110,104,379	I429N	probably benign	Het
Ighmbp2	A	G	19: 3,273,038		probably benign	Het
Irs4	T	C	X: 141,722,399	N934D	unknown	Het
Kif16b	T	A	2: 142,648,471	N1257I	probably damaging	Het
L1cam	T	C	X: 73,864,438	Y169C	probably damaging	Het
L3mbtl3	A	T	10: 26,276,235	M821K	probably damaging	Het
Lig3	A	G	11: 82,789,541		probably benign	Het
Lpin2	T	A	17: 71,215,068	D32E	probably damaging	Het
Mcoln3	T	C	3: 146,128,264		probably benign	Het
Mgst2	T	C	3: 51,664,571	V40A	probably damaging	Het
Mov10l1	T	C	15: 89,024,766	S997P	probably damaging	Het
Mycbpap	G	T	11: 94,512,655	H187Q	possibly damaging	Het
Olfr136	A	T	17: 38,335,957	T267S	probably benign	Het
Olfr652	T	C	7: 104,565,019	V266A	probably benign	Het
Onecut2	T	A	18: 64,386,602	S478T	probably damaging	Het
Pcdhb5	A	T	18: 37,321,253	I229F	probably damaging	Het
Pfas	A	G	11: 68,991,060	V933A	probably benign	Het
Phldb2	A	T	16: 45,751,429	I1200N	probably damaging	Het
Pla2g4e	C	A	2: 120,189,403		probably null	Het
Prr36	G	A	8: 4,215,243	P169L	probably damaging	Het
Rhot2	A	G	17: 25,841,360		probably null	Het
Serpina3f	C	T	12: 104,218,398	P267L	probably damaging	Het
Sppl2a	C	T	2: 126,904,903		probably benign	Het
Tas2r122	A	T	6: 132,711,762	M56K	possibly damaging	Het
Tbxas1	A	G	6: 39,081,060	T450A	probably benign	Het
Tex16	T	C	X: 112,093,754	S87P	probably damaging	Het
Them7	T	A	2: 105,378,885	F183L	possibly damaging	Het
Tmbim7	A	G	5: 3,670,074	T116A	probably damaging	Het
Tomm40	G	T	7: 19,703,363	S224R	probably benign	Het
Top3a	A	T	11: 60,761,736	I84N	probably damaging	Het
Vmn1r28	A	G	6: 58,265,408	T79A	probably benign	Het
Vmn2r61	A	T	7: 42,260,237	Y62F	probably damaging	Het
Zbtb42	T	C	12: 112,680,284	C298R	probably benign	Het
Zfp395	G	A	14: 65,386,387	E102K	probably damaging	Het

Other mutations in Fcrla

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Fcrla	APN	1	170927498	missense	probably benign	0.00
IGL03323:Fcrla	APN	1	170927545	utr 5 prime	probably benign
R0113:Fcrla	UTSW	1	170922299	start codon destroyed	probably null	0.66
R1457:Fcrla	UTSW	1	170921004	missense	probably damaging	1.00
R1917:Fcrla	UTSW	1	170927526	nonsense	probably null
R4331:Fcrla	UTSW	1	170921676	missense	possibly damaging	0.74
R4819:Fcrla	UTSW	1	170920939	missense	probably damaging	0.99
R4923:Fcrla	UTSW	1	170921113	missense	probably damaging	1.00
R5000:Fcrla	UTSW	1	170922390	missense	probably benign	0.03
R5441:Fcrla	UTSW	1	170925422	intron	probably benign
R5459:Fcrla	UTSW	1	170918169	missense	possibly damaging	0.68
R6575:Fcrla	UTSW	1	170922228	missense	probably damaging	1.00
R7369:Fcrla	UTSW	1	170922317	missense	probably benign	0.23
R7786:Fcrla	UTSW	1	170920857	missense	possibly damaging	0.93

Posted On

2014-01-21