Mutagenetix > Incidental Mutation

Incidental Mutation 'R1651:Fcmr'

186362

Institutional Source

Beutler Lab

Gene Symbol

Fcmr

Ensembl Gene

ENSMUSG00000042474

Gene Name

Fc fragment of IgM receptor

Synonyms

1810037B05Rik, FcmuR, Faim3

MMRRC Submission

039687-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1651 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

130793514-130808528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130805988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 315 (T315A)

Ref Sequence

ENSEMBL: ENSMUSP00000048303 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038829] [ENSMUST00000121040] [ENSMUST00000187650] [ENSMUST00000191279]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038829
AA Change: T315A

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

SMART Domains

Protein: ENSMUSP00000048303
Gene: ENSMUSG00000042474
AA Change: T315A

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:V-set	21	122	1.3e-10	PFAM
low complexity region	212	223	N/A	INTRINSIC
transmembrane domain	264	283	N/A	INTRINSIC
low complexity region	285	311	N/A	INTRINSIC
low complexity region	344	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121040

SMART Domains

Protein: ENSMUSP00000113064
Gene: ENSMUSG00000026420

Domain	Start	End	E-Value	Type
low complexity region	44	56	N/A	INTRINSIC
IL10	76	219	1.14e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149355

Predicted Effect

probably benign
Transcript: ENSMUST00000187650

SMART Domains

Protein: ENSMUSP00000140149
Gene: ENSMUSG00000026420

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IL10	37	180	5.4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191279

SMART Domains

Protein: ENSMUSP00000140821
Gene: ENSMUSG00000026420

Domain	Start	End	E-Value	Type
low complexity region	44	56	N/A	INTRINSIC
Blast:IL10	76	118	2e-21	BLAST
SCOP:d2ilk__	80	119	2e-9	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fc receptors specifically bind to the Fc region of immunoglobulins (Igs) to mediate the unique functions of each Ig class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020) (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).[supplied by OMIM, Jul 2010]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit a slight decrease in B cell numbers reduced sensitivity to Gal-induced liver damage, increased granulocyte production of ROS and increased sensitivity to infection by Listeria monocytogenes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	A	2: 150,690,341 (GRCm39)	Q118L	probably benign	Het
Acss1	A	T	2: 150,480,357 (GRCm39)	V238D	possibly damaging	Het
Adgrv1	T	C	13: 81,635,972 (GRCm39)	I3512M	probably benign	Het
Arhgap32	A	G	9: 32,171,096 (GRCm39)	Q1292R	probably damaging	Het
Bpnt2	A	G	4: 4,792,737 (GRCm39)	F123L	probably damaging	Het
Caskin1	C	T	17: 24,721,186 (GRCm39)	R509C	possibly damaging	Het
Cd47	T	C	16: 49,714,591 (GRCm39)	V147A	possibly damaging	Het
Cdc20b	T	A	13: 113,215,258 (GRCm39)	Y275*	probably null	Het
Chd4	A	G	6: 125,100,547 (GRCm39)	D1745G	possibly damaging	Het
Crmp1	T	A	5: 37,430,783 (GRCm39)	S250T	probably damaging	Het
Crybg2	A	G	4: 133,802,214 (GRCm39)	K1125E	probably benign	Het
Crybg2	C	A	4: 133,802,136 (GRCm39)	P1099T	possibly damaging	Het
Csf1r	T	A	18: 61,243,473 (GRCm39)	I163N	possibly damaging	Het
Dicer1	T	C	12: 104,675,064 (GRCm39)	T733A	probably damaging	Het
Edar	A	G	10: 58,441,875 (GRCm39)	V339A	possibly damaging	Het
Efcab3	A	G	11: 104,611,492 (GRCm39)	R445G	probably benign	Het
Efcab6	A	G	15: 83,755,194 (GRCm39)	I1374T	possibly damaging	Het
Erbb2	G	A	11: 98,324,283 (GRCm39)	R757K	probably damaging	Het
Fam98a	A	G	17: 75,854,710 (GRCm39)	V33A	probably benign	Het
Farp2	T	C	1: 93,531,191 (GRCm39)		probably null	Het
Gdf9	G	A	11: 53,324,576 (GRCm39)	R115Q	probably damaging	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,434,948 (GRCm39)		probably benign	Het
H2-M10.1	A	G	17: 36,636,648 (GRCm39)	V52A	probably damaging	Het
Hspg2	T	A	4: 137,260,748 (GRCm39)	C1582*	probably null	Het
Icam2	C	T	11: 106,268,782 (GRCm39)	V229M	probably damaging	Het
Itga7	C	T	10: 128,784,693 (GRCm39)	P735L	probably benign	Het
Kbtbd3	C	A	9: 4,330,589 (GRCm39)	P321Q	possibly damaging	Het
Kcnma1	T	A	14: 23,364,262 (GRCm39)	T997S	probably damaging	Het
Kifc5b	T	C	17: 27,144,504 (GRCm39)	F541S	probably damaging	Het
Klhdc9	C	A	1: 171,188,016 (GRCm39)	V72L	probably benign	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lrrtm4	A	G	6: 79,999,511 (GRCm39)	T308A	probably benign	Het
Map1b	T	C	13: 99,569,091 (GRCm39)	E1210G	unknown	Het
Mocs3	A	G	2: 168,073,489 (GRCm39)	Y312C	probably damaging	Het
Mrps7	G	T	11: 115,495,581 (GRCm39)	E40*	probably null	Het
Msantd5f1	A	T	4: 73,605,621 (GRCm39)	N344I	possibly damaging	Het
Msln	T	C	17: 25,972,382 (GRCm39)	H50R	probably benign	Het
Myb	A	G	10: 21,002,097 (GRCm39)	F748S	probably damaging	Het
Myo10	C	A	15: 25,742,455 (GRCm39)	H590N	probably damaging	Het
Naip5	T	C	13: 100,358,419 (GRCm39)	E939G	probably benign	Het
Nbeal1	T	A	1: 60,239,278 (GRCm39)	V107E	probably damaging	Het
Nrcam	A	T	12: 44,623,462 (GRCm39)	N1011I	probably damaging	Het
Or14c44	A	G	7: 86,057,078 (GRCm39)		probably benign	Het
Or1ak2	T	C	2: 36,827,335 (GRCm39)	L68P	probably damaging	Het
Or4c118	A	C	2: 88,975,346 (GRCm39)	V7G	probably damaging	Het
Pcgf6	A	T	19: 47,037,441 (GRCm39)	C153S	probably damaging	Het
Phrf1	T	C	7: 140,817,434 (GRCm39)	V81A	probably benign	Het
Ppp4r4	A	G	12: 103,550,331 (GRCm39)	N36D	probably benign	Het
Prkch	A	G	12: 73,805,775 (GRCm39)	T517A	possibly damaging	Het
Rasal1	A	T	5: 120,790,910 (GRCm39)	K33*	probably null	Het
Rp1l1	G	A	14: 64,268,442 (GRCm39)	E1343K	probably damaging	Het
Serpinb6e	T	C	13: 34,020,406 (GRCm39)	D234G	probably benign	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Smyd3	T	G	1: 178,871,441 (GRCm39)	I313L	probably benign	Het
Tdrd9	C	A	12: 111,991,140 (GRCm39)	D543E	probably damaging	Het
Tet1	A	G	10: 62,715,453 (GRCm39)	L114P	probably damaging	Het
Tmprss11c	G	A	5: 86,387,283 (GRCm39)	P212S	probably damaging	Het
Tmx2	A	T	2: 84,506,461 (GRCm39)	M77K	probably damaging	Het
Traf3	T	G	12: 111,228,470 (GRCm39)	D560E	probably damaging	Het
Trappc12	C	T	12: 28,741,776 (GRCm39)	M711I	probably benign	Het
Trim2	A	G	3: 84,074,957 (GRCm39)		probably null	Het
Vmn2r18	A	G	5: 151,485,464 (GRCm39)	S677P	probably damaging	Het
Wdr7	T	A	18: 63,853,847 (GRCm39)	L60*	probably null	Het
Wdr93	T	C	7: 79,399,830 (GRCm39)	F140L	probably benign	Het
Zfp638	A	G	6: 83,931,719 (GRCm39)	T802A	probably benign	Het

Other mutations in Fcmr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:Fcmr	APN	1	130,802,859 (GRCm39)	missense	probably benign	0.06
IGL01652:Fcmr	APN	1	130,806,244 (GRCm39)	missense	probably benign	0.25
IGL02106:Fcmr	APN	1	130,802,872 (GRCm39)	missense	probably benign
IGL03270:Fcmr	APN	1	130,803,779 (GRCm39)	missense	possibly damaging	0.63
R1635:Fcmr	UTSW	1	130,803,922 (GRCm39)	splice site	probably null
R1728:Fcmr	UTSW	1	130,806,006 (GRCm39)	missense	probably benign	0.00
R1728:Fcmr	UTSW	1	130,803,711 (GRCm39)	missense	probably benign
R1729:Fcmr	UTSW	1	130,806,006 (GRCm39)	missense	probably benign	0.00
R1729:Fcmr	UTSW	1	130,803,711 (GRCm39)	missense	probably benign
R1730:Fcmr	UTSW	1	130,806,006 (GRCm39)	missense	probably benign	0.00
R1730:Fcmr	UTSW	1	130,803,711 (GRCm39)	missense	probably benign
R1739:Fcmr	UTSW	1	130,806,006 (GRCm39)	missense	probably benign	0.00
R1739:Fcmr	UTSW	1	130,803,711 (GRCm39)	missense	probably benign
R1762:Fcmr	UTSW	1	130,806,006 (GRCm39)	missense	probably benign	0.00
R1762:Fcmr	UTSW	1	130,803,711 (GRCm39)	missense	probably benign
R1783:Fcmr	UTSW	1	130,806,006 (GRCm39)	missense	probably benign	0.00
R1783:Fcmr	UTSW	1	130,803,711 (GRCm39)	missense	probably benign
R1784:Fcmr	UTSW	1	130,806,006 (GRCm39)	missense	probably benign	0.00
R1784:Fcmr	UTSW	1	130,803,711 (GRCm39)	missense	probably benign
R1785:Fcmr	UTSW	1	130,806,006 (GRCm39)	missense	probably benign	0.00
R1785:Fcmr	UTSW	1	130,803,711 (GRCm39)	missense	probably benign
R2037:Fcmr	UTSW	1	130,806,070 (GRCm39)	missense	possibly damaging	0.61
R6111:Fcmr	UTSW	1	130,805,566 (GRCm39)	missense	probably damaging	0.96
R6217:Fcmr	UTSW	1	130,806,060 (GRCm39)	missense	probably damaging	0.96
R6538:Fcmr	UTSW	1	130,802,762 (GRCm39)	missense	possibly damaging	0.72
R6712:Fcmr	UTSW	1	130,805,588 (GRCm39)	missense	probably damaging	0.99
R6965:Fcmr	UTSW	1	130,803,724 (GRCm39)	missense	possibly damaging	0.65
R7765:Fcmr	UTSW	1	130,802,025 (GRCm39)	missense	probably damaging	1.00
R8770:Fcmr	UTSW	1	130,803,799 (GRCm39)	missense	probably benign
R9343:Fcmr	UTSW	1	130,802,072 (GRCm39)	missense
R9468:Fcmr	UTSW	1	130,801,951 (GRCm39)	missense	possibly damaging	0.65
X0025:Fcmr	UTSW	1	130,802,004 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTAGCTCGGATGCCCAGGTAAC -3'
(R):5'- TCCGCTGGACCTATGAGACAGAAG -3'

Sequencing Primer
(F):5'- GTCTAAGTCCAGGCTACAACATTG -3'
(R):5'- CTGGACCTATGAGACAGAAGAAAGC -3'

Posted On

2014-05-09