Mutagenetix > Incidental Mutation

Incidental Mutation 'R7765:Fcmr'

598163

Institutional Source

Beutler Lab

Gene Symbol

Fcmr

Ensembl Gene

ENSMUSG00000042474

Gene Name

Fc fragment of IgM receptor

Synonyms

1810037B05Rik, FcmuR, Faim3

MMRRC Submission

045821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130793514-130808528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130802025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 93 (L93Q)

Ref Sequence

ENSEMBL: ENSMUSP00000048303 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000038829
AA Change: L93Q

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

SMART Domains

Protein: ENSMUSP00000048303
Gene: ENSMUSG00000042474
AA Change: L93Q

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

Meta Mutation Damage Score

0.9090

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	C	14: 66,297,345 (GRCm39)	E187G	probably damaging	Het
Adam28	C	T	14: 68,846,555 (GRCm39)		probably null	Het
Ap2a1	G	A	7: 44,559,160 (GRCm39)	T189M	probably damaging	Het
Apaf1	A	G	10: 90,859,644 (GRCm39)	Y845H	probably benign	Het
Asb14	G	T	14: 26,619,718 (GRCm39)	V55F	probably benign	Het
Brap	A	T	5: 121,800,192 (GRCm39)	D71V	probably damaging	Het
Ccdc93	T	G	1: 121,427,042 (GRCm39)	F610V	probably damaging	Het
Cfap46	T	G	7: 139,231,480 (GRCm39)	D911A		Het
Chn2	T	C	6: 54,275,137 (GRCm39)		probably null	Het
Cib3	A	G	8: 72,958,269 (GRCm39)	F156S	probably damaging	Het
Csnk2a1-ps3	G	A	1: 156,352,354 (GRCm39)	G185D	possibly damaging	Het
Ctif	A	T	18: 75,738,715 (GRCm39)	V164D	probably damaging	Het
Ddx27	T	A	2: 166,869,879 (GRCm39)	F405I	probably damaging	Het
Dnttip2	A	G	3: 122,069,594 (GRCm39)	T270A	probably benign	Het
Dst	T	A	1: 34,314,775 (GRCm39)	S4455T	probably damaging	Het
Efcab8	A	G	2: 153,685,110 (GRCm39)	K47R		Het
Efhd2	T	C	4: 141,601,886 (GRCm39)	E98G	probably damaging	Het
Fhdc1	T	A	3: 84,351,906 (GRCm39)	E1106D	probably benign	Het
Gcnt1	C	T	19: 17,306,723 (GRCm39)	G334D	probably damaging	Het
Hltf	T	C	3: 20,145,647 (GRCm39)	F488L	probably benign	Het
Hmgxb4	C	A	8: 75,727,436 (GRCm39)	H140N	probably damaging	Het
Ifi214	A	T	1: 173,352,402 (GRCm39)	F342L	probably damaging	Het
Ip6k1	A	G	9: 107,909,288 (GRCm39)	D105G	possibly damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kif18a	G	A	2: 109,137,285 (GRCm39)	D506N	probably benign	Het
Klf17	T	A	4: 117,617,812 (GRCm39)	M182L	probably benign	Het
Kmt2d	A	G	15: 98,750,215 (GRCm39)	F2493L	unknown	Het
Lefty1	A	G	1: 180,764,112 (GRCm39)	E84G	probably damaging	Het
Lyst	T	G	13: 13,884,117 (GRCm39)	L2975R	possibly damaging	Het
Magea5	G	A	X: 153,837,174 (GRCm39)	P73S	possibly damaging	Het
Mctp2	T	C	7: 71,740,079 (GRCm39)		probably null	Het
Mprip	C	T	11: 59,649,047 (GRCm39)	T917M	possibly damaging	Het
Myh8	T	A	11: 67,194,481 (GRCm39)	I1564N	probably benign	Het
Npc1	A	T	18: 12,328,105 (GRCm39)	M1068K	probably benign	Het
Nr2e1	A	G	10: 42,450,433 (GRCm39)	C60R	probably benign	Het
Nrxn3	A	G	12: 89,780,254 (GRCm39)	I29V	probably benign	Het
Ntsr1	T	A	2: 180,180,610 (GRCm39)	H305Q	probably damaging	Het
Or2y1e	A	G	11: 49,218,571 (GRCm39)	E111G	probably damaging	Het
Or8g35	A	G	9: 39,381,612 (GRCm39)	S137P	probably benign	Het
Or8h10	T	A	2: 86,808,538 (GRCm39)	I201F	probably damaging	Het
Pate2	A	C	9: 35,581,197 (GRCm39)	E22D	probably benign	Het
Pcdhb22	A	G	18: 37,652,158 (GRCm39)	T209A	probably damaging	Het
Pdss2	C	T	10: 43,340,628 (GRCm39)	S352F	probably benign	Het
Pfn3	T	A	13: 55,562,900 (GRCm39)	D27V	probably damaging	Het
Pigg	T	G	5: 108,461,920 (GRCm39)	S84A	probably benign	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Prss22	C	T	17: 24,213,592 (GRCm39)	G233E	probably damaging	Het
Rad51b	T	C	12: 79,850,044 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,438,970 (GRCm39)	V1632A	possibly damaging	Het
Serpinb3d	T	G	1: 107,007,512 (GRCm39)	D158A	probably damaging	Het
Sh3yl1	T	C	12: 31,008,868 (GRCm39)	L266P	probably damaging	Het
Sidt2	A	T	9: 45,852,873 (GRCm39)		probably null	Het
Stox1	C	T	10: 62,501,778 (GRCm39)	V261M	probably benign	Het
Taf7l2	T	A	10: 115,949,158 (GRCm39)	K123*	probably null	Het
Tll1	A	G	8: 64,504,483 (GRCm39)	Y638H	probably damaging	Het
Tst	A	T	15: 78,289,816 (GRCm39)	M73K	possibly damaging	Het
Tuba4a	C	T	1: 75,193,003 (GRCm39)	V232M	probably benign	Het
Unk	T	A	11: 115,943,908 (GRCm39)	V343D	probably benign	Het
Usf3	T	C	16: 44,039,426 (GRCm39)	V1302A	probably benign	Het
Usp32	A	T	11: 84,885,234 (GRCm39)	L1271H	probably damaging	Het
Vwa5b2	C	T	16: 20,413,361 (GRCm39)	P192L	probably benign	Het
Zfp995	A	G	17: 22,100,984 (GRCm39)	Y38H	probably damaging	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
R1651:Fcmr	UTSW	1	130,805,988 (GRCm39)	missense	probably benign
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
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'- GGGGTGGATCCATTATCATCG -3'
(R):5'- TCGGTCAACTGTGAAGTTAAGC -3'

Sequencing Primer
(F):5'- GGTGGATCCATTATCATCGAATGCC -3'
(R):5'- CAACTGTGAAGTTAAGCTGTGTTG -3'

Posted On

2019-11-26