Mutagenetix > Incidental Mutations

Incidental Mutation 'R2884:Fcrl5'

260954

Institutional Source

Beutler Lab

Gene Symbol

Fcrl5

Ensembl Gene

ENSMUSG00000048031

Gene Name

Fc receptor-like 5

Synonyms

BXMAS1-like protein 2, Fcrh3, mBXMH2

MMRRC Submission

040472-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R2884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87435773-87500678 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87457391 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 566 (Y566C)

Ref Sequence

ENSEMBL: ENSMUSP00000136046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049926] [ENSMUST00000166297] [ENSMUST00000178261] [ENSMUST00000193229] [ENSMUST00000194102]

Predicted Effect

probably benign
Transcript: ENSMUST00000049926
AA Change: Y566C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000050151
Gene: ENSMUSG00000048031
AA Change: Y566C

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IG	40	113	2.08e-1	SMART
IGc2	128	188	6.16e-4	SMART
IG_like	213	296	4.41e1	SMART
IGc2	316	380	3.97e-7	SMART
IG_like	410	473	2.94e-1	SMART
transmembrane domain	495	517	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166297
AA Change: Y478C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131176
Gene: ENSMUSG00000048031
AA Change: Y478C

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IGc2	40	100	6.16e-4	SMART
IG_like	125	208	4.41e1	SMART
IGc2	228	292	3.97e-7	SMART
IG_like	322	385	2.94e-1	SMART
transmembrane domain	407	429	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000178261
AA Change: Y566C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136046
Gene: ENSMUSG00000048031
AA Change: Y566C

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IG	40	113	2.08e-1	SMART
IGc2	128	188	6.16e-4	SMART
IG_like	213	296	4.41e1	SMART
IGc2	316	380	3.97e-7	SMART
IG_like	410	473	2.94e-1	SMART
transmembrane domain	495	517	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000193229
AA Change: Y478C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141311
Gene: ENSMUSG00000048031
AA Change: Y478C

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IGc2	40	100	6.16e-4	SMART
IG_like	125	208	4.41e1	SMART
IGc2	228	292	3.97e-7	SMART
IG_like	322	385	2.94e-1	SMART
transmembrane domain	407	429	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194102
AA Change: Y566C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000142210
Gene: ENSMUSG00000048031
AA Change: Y566C

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IG	40	113	2.08e-1	SMART
IGc2	128	188	6.16e-4	SMART
IG_like	213	296	4.41e1	SMART
IGc2	316	380	3.97e-7	SMART
IG_like	410	473	2.94e-1	SMART
transmembrane domain	495	517	N/A	INTRINSIC

Meta Mutation Damage Score

0.6598

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

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 immunoglobulin receptor superfamily and the Fc-receptor like family. This gene and several other Fc receptor-like gene members are clustered on the long arm of chromosome 1. The encoded protein is a single-pass type I membrane protein and contains 8 immunoglobulin-like C2-type domains. This gene is implicated in B cell development and lymphomagenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	T	8: 120,145,511	E59D	possibly damaging	Het
Arhgap27	T	C	11: 103,360,843		probably null	Het
BC061237	A	G	14: 44,501,170	R9G	possibly damaging	Het
BC067074	G	T	13: 113,369,191	A2285S	probably benign	Het
BC067074	A	T	13: 113,320,682	Q1087H	probably damaging	Het
Brsk1	A	G	7: 4,691,123		probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Dnajb5	A	T	4: 42,957,355	D284V	probably damaging	Het
Dnmt3a	A	G	12: 3,896,132	D329G	probably damaging	Het
Ecd	C	T	14: 20,320,773	G626D	probably damaging	Het
Exoc3l4	A	G	12: 111,428,522	D551G	possibly damaging	Het
Fam227b	A	T	2: 126,100,926	I317N	probably benign	Het
Fam3c	G	A	6: 22,329,582	R49C	probably damaging	Het
Fras1	A	G	5: 96,700,268	N1779S	probably benign	Het
Gm19965	T	A	1: 116,821,583	N331K	probably benign	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
H2-DMa	A	G	17: 34,137,147	N41S	probably damaging	Het
Habp4	A	T	13: 64,182,266	R328S	probably benign	Het
Hexb	C	T	13: 97,183,700	G272D	probably damaging	Het
Hist1h2ae	A	G	13: 23,570,873	I79T	probably damaging	Het
Lilrb4a	A	T	10: 51,491,613	N84Y	probably benign	Het
Mtnr1a	A	G	8: 45,087,268	T89A	probably benign	Het
Myh13	T	A	11: 67,337,643	N336K	probably benign	Het
Naca	T	C	10: 128,041,678		probably benign	Het
Naif1	C	T	2: 32,454,875	P197L	probably benign	Het
Nprl3	A	G	11: 32,248,163	L179P	probably damaging	Het
Nup93	A	G	8: 94,303,638	Y375C	probably damaging	Het
Olfr547	A	G	7: 102,535,232	I162V	probably benign	Het
Pcdha12	G	A	18: 37,020,704	D159N	probably damaging	Het
Plekhs1	G	A	19: 56,470,826	G39R	probably benign	Het
Ppp4r3a	T	C	12: 101,068,677	E53G	probably damaging	Het
Prss48	A	T	3: 85,997,255	M212K	probably benign	Het
Pth	A	T	7: 113,386,028	L46Q	probably damaging	Het
Rin2	A	T	2: 145,860,991	T536S	probably benign	Het
Setx	T	G	2: 29,148,625	C1707W	probably damaging	Het
Stau2	A	T	1: 16,231,066	F519Y	possibly damaging	Het
Syne2	T	G	12: 75,963,759	V2481G	probably benign	Het
Tpte	C	T	8: 22,335,423	Q331*	probably null	Het
Ttn	G	T	2: 76,900,252		probably benign	Het
Utrn	A	T	10: 12,739,361		probably null	Het
Vmn2r82	A	G	10: 79,396,248	I694V	probably benign	Het
Vmn2r88	G	A	14: 51,413,934	C235Y	probably damaging	Het
Xrn2	T	A	2: 147,047,656	V653E	probably damaging	Het
Znrf3	A	T	11: 5,289,693	D58E	probably damaging	Het

Other mutations in Fcrl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Fcrl5	APN	3	87444291	missense	probably damaging	0.96
IGL01868:Fcrl5	APN	3	87443707	missense	possibly damaging	0.58
IGL01939:Fcrl5	APN	3	87446299	missense	probably damaging	0.99
IGL02817:Fcrl5	APN	3	87435913	missense	probably benign	0.35
IGL03106:Fcrl5	APN	3	87435883	splice site	probably null
R0381:Fcrl5	UTSW	3	87446460	missense	probably damaging	1.00
R0523:Fcrl5	UTSW	3	87457792	missense	possibly damaging	0.72
R0646:Fcrl5	UTSW	3	87442013	missense	probably benign	0.00
R1231:Fcrl5	UTSW	3	87442179	missense	probably benign	0.13
R1353:Fcrl5	UTSW	3	87448362	missense	probably damaging	1.00
R1711:Fcrl5	UTSW	3	87457414	missense	possibly damaging	0.61
R1714:Fcrl5	UTSW	3	87446406	missense	probably damaging	1.00
R1719:Fcrl5	UTSW	3	87457397	missense	probably damaging	0.98
R2084:Fcrl5	UTSW	3	87444230	missense	probably benign	0.24
R2358:Fcrl5	UTSW	3	87446419	missense	probably damaging	0.99
R2885:Fcrl5	UTSW	3	87457391	missense	probably damaging	1.00
R3085:Fcrl5	UTSW	3	87446464	missense	probably damaging	1.00
R3153:Fcrl5	UTSW	3	87443680	missense	probably benign	0.09
R4288:Fcrl5	UTSW	3	87442224	missense	probably benign	0.09
R4289:Fcrl5	UTSW	3	87442224	missense	probably benign	0.09
R4614:Fcrl5	UTSW	3	87448426	missense	probably damaging	1.00
R4719:Fcrl5	UTSW	3	87444189	missense	probably damaging	1.00
R4788:Fcrl5	UTSW	3	87457188	missense	probably damaging	1.00
R4920:Fcrl5	UTSW	3	87444173	missense	probably damaging	1.00
R4972:Fcrl5	UTSW	3	87454650	missense	probably benign	0.00
R5373:Fcrl5	UTSW	3	87446391	missense	probably benign	0.01
R5374:Fcrl5	UTSW	3	87446391	missense	probably benign	0.01
R5963:Fcrl5	UTSW	3	87444173	missense	probably damaging	1.00
R5975:Fcrl5	UTSW	3	87442103	missense	probably benign	0.00
R6022:Fcrl5	UTSW	3	87455763	missense	probably benign	0.42
R6267:Fcrl5	UTSW	3	87448324	missense	probably damaging	1.00
R6372:Fcrl5	UTSW	3	87444194	nonsense	probably null
R6393:Fcrl5	UTSW	3	87448327	missense	probably damaging	1.00
R7088:Fcrl5	UTSW	3	87457834	makesense	probably null
R7175:Fcrl5	UTSW	3	87446338	missense	probably benign	0.37
R7210:Fcrl5	UTSW	3	87446412	missense	possibly damaging	0.85
R7217:Fcrl5	UTSW	3	87443774	missense	probably damaging	1.00
R7243:Fcrl5	UTSW	3	87442245	missense	probably benign
R7776:Fcrl5	UTSW	3	87444195	missense	possibly damaging	0.84
R7813:Fcrl5	UTSW	3	87443623	missense	probably benign	0.09
R8357:Fcrl5	UTSW	3	87444260	missense	probably damaging	0.99
R8457:Fcrl5	UTSW	3	87444260	missense	probably damaging	0.99
X0054:Fcrl5	UTSW	3	87446299	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGCCAGTGTACAGCAATG -3'
(R):5'- TACATGATGGCTTTGGATTAACTCC -3'

Sequencing Primer
(F):5'- CTGGTCTCGGGGTAATCACAAGATAC -3'
(R):5'- GGATTAACTCCAAACAATGTAGGTGC -3'

Posted On

2015-01-23