Mutagenetix > Incidental Mutation

Incidental Mutation 'R9585:Fcrla'

722732

Institutional Source

Beutler Lab

Gene Symbol

Fcrla

Ensembl Gene

ENSMUSG00000038421

Gene Name

Fc receptor-like A

Synonyms

FREB, Fcrx, Freb1, mFcrX, mFREB, FCRL1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9585 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

170917576-170927583 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 170922299 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

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
AA Change: M63K

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000036380
Gene: ENSMUSG00000038421
AA Change: M63K

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: M34K

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125074
Gene: ENSMUSG00000038421
AA Change: M34K

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: M62K

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124853
Gene: ENSMUSG00000038421
AA Change: M62K

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: M63K

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124859
Gene: ENSMUSG00000038421
AA Change: M63K

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
AA Change: M1K

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124469
Gene: ENSMUSG00000038421
AA Change: M1K

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,406,344	D533V	possibly damaging	Het
4933411K16Rik	A	G	19: 42,052,913	E161G	probably benign	Het
Abca12	A	G	1: 71,303,586	S912P	probably damaging	Het
Abca3	G	A	17: 24,400,512	M1196I	probably benign	Het
Adprhl2	A	T	4: 126,317,993	D175E	probably benign	Het
Asrgl1	A	G	19: 9,113,034	L316P	probably benign	Het
Avl9	T	A	6: 56,757,314	M626K	probably damaging	Het
Birc6	A	G	17: 74,609,270	N1727S	probably damaging	Het
Casp14	G	A	10: 78,713,360	R251W	probably damaging	Het
Cfap69	A	G	5: 5,581,269	I919T	possibly damaging	Het
Cps1	T	A	1: 67,156,182	M254K	probably damaging	Het
Ctc1	A	G	11: 69,034,664	E1009G	probably damaging	Het
Ddx25	A	T	9: 35,543,713	Y426*	probably null	Het
Dok3	A	G	13: 55,524,244	F207S	probably damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Fam92b	T	C	8: 120,174,711	E85G	probably null	Het
Gm10471	T	C	5: 26,086,544	H88R	possibly damaging	Het
Heatr4	A	T	12: 83,967,698	S588R	probably damaging	Het
Iglv3	A	G	16: 19,241,210	*123Q	probably null	Het
Igsf9b	T	C	9: 27,322,236	I344T	probably damaging	Het
Il18	T	C	9: 50,579,361	S99P	probably damaging	Het
Krt36	G	A	11: 100,104,066	L227F	probably damaging	Het
Lrriq1	A	G	10: 103,215,389	S501P	probably benign	Het
Lvrn	T	C	18: 46,878,344		probably null	Het
Myo18a	T	A	11: 77,818,669	M535K	probably benign	Het
Myocd	T	A	11: 65,204,366	S158C	probably damaging	Het
Naip6	A	T	13: 100,300,069	C649S	probably damaging	Het
Oasl2	T	C	5: 114,897,840	V59A	probably damaging	Het
Obscn	C	A	11: 59,075,005	V2942F	probably benign	Het
Olfr1157	T	A	2: 87,962,575	T106S	probably benign	Het
Olfr517	T	A	7: 108,868,345	T270S	probably benign	Het
Osbpl6	A	G	2: 76,524,094	T18A	probably benign	Het
Pcf11	A	T	7: 92,661,798	D327E	probably benign	Het
Per3	G	T	4: 151,012,681	Q796K	probably benign	Het
Pex5l	T	C	3: 33,005,942	T227A	probably benign	Het
Phf11b	G	T	14: 59,331,255	P70T	probably benign	Het
Pkd1l1	T	G	11: 8,854,390	I2184L		Het
Polr3a	A	T	14: 24,452,221	M1288K	probably damaging	Het
Pth1r	T	A	9: 110,744,779	R3S	probably benign	Het
Ptprk	C	A	10: 28,493,151	Y706*	probably null	Het
Rmi2	C	T	16: 10,886,119	T108I	probably benign	Het
Rrbp1	T	C	2: 143,957,559	N1076S	probably benign	Het
Setd3	A	C	12: 108,108,555		probably null	Het
Slc4a1	A	G	11: 102,357,089	Y360H	probably benign	Het
Sox21	A	G	14: 118,235,581	S19P	possibly damaging	Het
Stx18	T	A	5: 38,092,572	N76K	possibly damaging	Het
Sv2c	T	C	13: 95,985,958	T437A	probably benign	Het
Trrap	G	A	5: 144,840,520	V3043M	probably damaging	Het
Vps50	T	A	6: 3,600,348	S936T	probably benign	Het

Other mutations in Fcrla

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Fcrla	APN	1	170927498	missense	probably benign	0.00
IGL01712:Fcrla	APN	1	170921623	splice site	probably null
IGL03323:Fcrla	APN	1	170927545	utr 5 prime	probably benign
R0113:Fcrla	UTSW	1	170922299	start codon destroyed	probably null	0.04
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
R9276:Fcrla	UTSW	1	170927566	unclassified	probably benign
R9482:Fcrla	UTSW	1	170918380	missense	probably benign	0.00
R9622:Fcrla	UTSW	1	170922239	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTCGTGATTGACCCAGAGTC -3'
(R):5'- TATTCCCAGGGCAGAAGAGG -3'

Sequencing Primer
(F):5'- GACCCAGAGTCGAGAGAATAACTC -3'
(R):5'- GAGCCGGTGTGGAGGGTC -3'

Posted On

2022-08-09