Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Fcgrt'

730531

Institutional Source

Beutler Lab

Gene Symbol

Fcgrt

Ensembl Gene

ENSMUSG00000003420

Gene Name

Fc fragment of IgG receptor and transporter

Synonyms

FcRn, neonatal Fc receptor

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44742417-44753246 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44744853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 205 (E205A)

Ref Sequence

ENSEMBL: ENSMUSP00000147496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003512] [ENSMUST00000019683] [ENSMUST00000209761] [ENSMUST00000210469] [ENSMUST00000210527] [ENSMUST00000210642] [ENSMUST00000210734] [ENSMUST00000211352]

AlphaFold

Q61559

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003512
AA Change: E201A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000003512
Gene: ENSMUSG00000003420
AA Change: E201A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	24	197	1.2e-59	PFAM
IGc1	216	285	2.42e-11	SMART
transmembrane domain	300	322	N/A	INTRINSIC
low complexity region	333	351	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000019683

SMART Domains

Protein: ENSMUSP00000019683
Gene: ENSMUSG00000019539

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Blast:EFh	79	109	9e-9	BLAST
EFh	117	145	1.23e1	SMART
Blast:EFh	167	195	1e-7	BLAST
EFh	204	232	1.62e0	SMART
Blast:EFh	244	272	7e-6	BLAST
EFh	281	309	1.64e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000209761

Predicted Effect

probably benign
Transcript: ENSMUST00000210469

Predicted Effect

probably benign
Transcript: ENSMUST00000210527

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210642
AA Change: E205A

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000210734

Predicted Effect

probably benign
Transcript: ENSMUST00000211352

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous mutation of this gene results in defective perinatal transport of maternal IgG, increased clearance of IgG, and diminished IgG antibody response after immunization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,668,900 (GRCm39)	N2552I	probably damaging	Het
Amph	G	T	13: 19,309,253 (GRCm39)	A444S	probably benign	Het
Ankrd52	A	G	10: 128,216,457 (GRCm39)	N157S	probably benign	Het
Arhgap29	T	C	3: 121,797,920 (GRCm39)	F537L	probably benign	Het
Asic1	A	C	15: 99,590,657 (GRCm39)	T136P	probably damaging	Het
Atg2b	T	C	12: 105,605,561 (GRCm39)	Y1468C	probably benign	Het
Atm	A	G	9: 53,427,817 (GRCm39)	L431P	probably damaging	Het
Atosb	T	C	4: 43,036,050 (GRCm39)	H227R	probably damaging	Het
Btaf1	A	G	19: 36,922,646 (GRCm39)	T17A	probably benign	Het
Car10	A	G	11: 93,195,367 (GRCm39)	N58S	probably benign	Het
Cd79b	A	T	11: 106,202,845 (GRCm39)	D252E	probably damaging	Het
Cdipt	C	T	7: 126,576,202 (GRCm39)		probably benign	Het
Cebpe	T	C	14: 54,949,165 (GRCm39)	D84G	probably damaging	Het
Cenpj	T	C	14: 56,790,453 (GRCm39)	E532G	probably benign	Het
Cherp	A	G	8: 73,216,920 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,071,109 (GRCm39)	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,374,603 (GRCm39)	T9I	probably benign	Het
Clspn	G	T	4: 126,458,756 (GRCm39)	A280S	possibly damaging	Het
Cts3	T	G	13: 61,712,799 (GRCm39)	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,556,493 (GRCm39)	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,582,447 (GRCm39)	R386H	probably damaging	Het
Dhx58	A	T	11: 100,592,133 (GRCm39)	M305K	probably benign	Het
Dlgap3	T	C	4: 127,129,287 (GRCm39)	L894P	probably damaging	Het
Dnah3	A	T	7: 119,574,299 (GRCm39)	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,608,044 (GRCm39)	N183S	probably benign	Het
Drd5	G	T	5: 38,478,090 (GRCm39)	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,135,622 (GRCm39)	E159G	probably damaging	Het
Exoc1	T	A	5: 76,711,079 (GRCm39)	S659R	probably benign	Het
Fbln7	T	C	2: 128,719,314 (GRCm39)	I37T	probably benign	Het
Fcho2	A	T	13: 98,900,202 (GRCm39)	S304T	probably damaging	Het
Gbp9	C	A	5: 105,253,587 (GRCm39)	G43*	probably null	Het
Gucy2d	A	G	7: 98,123,868 (GRCm39)	K151R	probably benign	Het
Heatr4	T	A	12: 84,024,829 (GRCm39)	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,485,378 (GRCm39)	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,890,551 (GRCm39)	T156M	probably benign	Het
Hrnr	A	T	3: 93,227,987 (GRCm39)	E35V	probably damaging	Het
Idua	C	T	5: 108,818,037 (GRCm39)	Q70*	probably null	Het
Klf5	A	T	14: 99,539,189 (GRCm39)	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,701,164 (GRCm39)	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,158,395 (GRCm39)	D1721E		Het
Mdh1	T	A	11: 21,521,870 (GRCm39)		probably benign	Het
Mllt11	T	C	3: 95,127,521 (GRCm39)	H83R	probably benign	Het
Mrgprb4	A	C	7: 47,848,583 (GRCm39)	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,023,296 (GRCm39)	F319S	probably damaging	Het
Naif1	A	T	2: 32,344,907 (GRCm39)	M204L	probably benign	Het
Ncan	T	A	8: 70,554,628 (GRCm39)	D1063V	probably damaging	Het
Noto	A	T	6: 85,401,327 (GRCm39)	R119W	possibly damaging	Het
Or4c115	G	A	2: 88,927,573 (GRCm39)	L233F	probably benign	Het
Or51h7	A	T	7: 102,591,165 (GRCm39)	D206E	probably damaging	Het
Or6c69	T	A	10: 129,748,048 (GRCm39)	Y33F	probably damaging	Het
Or8b3	A	T	9: 38,314,841 (GRCm39)	I224F	probably damaging	Het
Ovch2	A	G	7: 107,393,584 (GRCm39)	W181R	probably damaging	Het
Palm	G	C	10: 79,655,117 (GRCm39)	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,205,787 (GRCm39)	L591*	probably null	Het
Pik3c2g	T	C	6: 139,841,910 (GRCm39)	S772P		Het
Prx	C	A	7: 27,217,411 (GRCm39)	D776E	probably benign	Het
Ptpra	A	G	2: 130,384,366 (GRCm39)	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,807,359 (GRCm39)	Y25C	probably damaging	Het
Reln	T	C	5: 22,136,427 (GRCm39)	T2534A	probably benign	Het
Rnf123	T	C	9: 107,954,963 (GRCm39)	S14G	probably benign	Het
Rock2	A	G	12: 17,015,602 (GRCm39)	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,111 (GRCm39)	V87A	possibly damaging	Het
S100b	G	A	10: 76,092,936 (GRCm39)	G23D	probably damaging	Het
Scn9a	T	A	2: 66,357,002 (GRCm39)	M1100L	probably benign	Het
Septin11	T	A	5: 93,296,266 (GRCm39)	S55T	possibly damaging	Het
Speer4a3	T	C	5: 26,154,829 (GRCm39)	E257G	probably damaging	Het
Sv2b	T	A	7: 74,769,676 (GRCm39)	Q622L	probably benign	Het
Taar7a	T	C	10: 23,868,799 (GRCm39)	D194G	probably benign	Het
Trappc3	T	C	4: 126,169,014 (GRCm39)	I168T	probably benign	Het
Trim27	T	C	13: 21,374,296 (GRCm39)		probably null	Het
Wdr49	G	A	3: 75,304,359 (GRCm39)	T109I	probably benign	Het
Wdr64	T	C	1: 175,544,854 (GRCm39)	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,247,049 (GRCm39)	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,593,829 (GRCm39)	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,312,332 (GRCm39)	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,539,334 (GRCm39)	A289T	probably benign	Het
Zscan5b	T	C	7: 6,234,525 (GRCm39)	S184P	possibly damaging	Het

Other mutations in Fcgrt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Fcgrt	APN	7	44,742,752 (GRCm39)	missense	probably damaging	1.00
IGL02024:Fcgrt	APN	7	44,744,682 (GRCm39)	missense	probably damaging	0.96
R0355:Fcgrt	UTSW	7	44,752,493 (GRCm39)	start codon destroyed	unknown
R0408:Fcgrt	UTSW	7	44,751,363 (GRCm39)	missense	probably damaging	1.00
R4989:Fcgrt	UTSW	7	44,751,372 (GRCm39)	missense	probably benign	0.09
R6156:Fcgrt	UTSW	7	44,751,484 (GRCm39)	missense	probably benign	0.05
R6190:Fcgrt	UTSW	7	44,751,622 (GRCm39)	splice site	probably null
R7001:Fcgrt	UTSW	7	44,751,466 (GRCm39)	missense	probably benign	0.03
R7177:Fcgrt	UTSW	7	44,751,421 (GRCm39)	missense	probably benign	0.00
R7605:Fcgrt	UTSW	7	44,744,675 (GRCm39)	nonsense	probably null
R7729:Fcgrt	UTSW	7	44,744,797 (GRCm39)	missense	probably damaging	1.00
R8201:Fcgrt	UTSW	7	44,744,634 (GRCm39)	missense	possibly damaging	0.54
R8377:Fcgrt	UTSW	7	44,751,987 (GRCm39)	missense	probably damaging	1.00
R9718:Fcgrt	UTSW	7	44,744,853 (GRCm39)	missense	possibly damaging	0.81
R9745:Fcgrt	UTSW	7	44,742,754 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGAAAGAGCCATCTCCATTGG -3'
(R):5'- TTGACCCATGCACATGCCAC -3'

Sequencing Primer
(F):5'- CATTGGGACCAGTGCTGCAATTC -3'
(R):5'- CACCAAAATAAGGGGGTGCAGTG -3'

Posted On

2022-10-06