Incidental Mutation 'IGL02024:Fcgrt'
| ID |
184079 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fcgrt
|
| Ensembl Gene |
ENSMUSG00000003420 |
| Gene Name |
Fc fragment of IgG receptor and transporter |
| Synonyms |
FcRn, neonatal Fc receptor |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL02024
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44742417-44753246 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44744682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 258
(H258L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003512]
[ENSMUST00000019683]
[ENSMUST00000209761]
[ENSMUST00000210469]
[ENSMUST00000210527]
[ENSMUST00000210642]
[ENSMUST00000210734]
[ENSMUST00000211352]
|
| AlphaFold |
Q61559 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003512
AA Change: H258L
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000003512
Gene: ENSMUSG00000003420
AA Change: H258L
| 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 |
noncoding transcript
Transcript: ENSMUST00000209808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210355
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210469
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210527
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210642
AA Change: H262L
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211668
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210734
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211352
|
| Coding Region Coverage |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,113,705 (GRCm39) |
H246Y |
probably damaging |
Het |
| Abat |
G |
A |
16: 8,429,000 (GRCm39) |
A322T |
probably damaging |
Het |
| Bcat1 |
A |
G |
6: 144,978,564 (GRCm39) |
V152A |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,969,826 (GRCm39) |
|
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,141,776 (GRCm39) |
T291A |
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,805,799 (GRCm39) |
C2026Y |
probably damaging |
Het |
| Galnt6 |
C |
T |
15: 100,601,374 (GRCm39) |
D302N |
probably benign |
Het |
| Gldc |
T |
A |
19: 30,078,227 (GRCm39) |
R923S |
probably damaging |
Het |
| Hspg2 |
G |
T |
4: 137,267,384 (GRCm39) |
A2033S |
probably damaging |
Het |
| Htr2c |
T |
A |
X: 145,858,921 (GRCm39) |
M77K |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,510,856 (GRCm39) |
Y337C |
probably damaging |
Het |
| Ints11 |
G |
T |
4: 155,972,972 (GRCm39) |
W554L |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,094,904 (GRCm39) |
C186S |
probably damaging |
Het |
| Lipf |
A |
G |
19: 33,953,995 (GRCm39) |
Y362C |
probably damaging |
Het |
| Map2k7 |
T |
A |
8: 4,297,663 (GRCm39) |
S421R |
possibly damaging |
Het |
| Mroh9 |
T |
G |
1: 162,890,071 (GRCm39) |
N222T |
possibly damaging |
Het |
| Msl3 |
C |
A |
X: 167,453,247 (GRCm39) |
R89L |
probably benign |
Het |
| Nrip1 |
T |
A |
16: 76,088,563 (GRCm39) |
D998V |
probably benign |
Het |
| Nrk |
T |
A |
X: 137,896,678 (GRCm39) |
I1265N |
probably damaging |
Het |
| Ntn5 |
A |
G |
7: 45,340,830 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,307 (GRCm39) |
N146S |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,243 (GRCm39) |
R233S |
possibly damaging |
Het |
| Or6s1 |
T |
G |
14: 51,308,766 (GRCm39) |
E28A |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,127,595 (GRCm39) |
|
probably benign |
Het |
| Porcn |
C |
T |
X: 8,067,901 (GRCm39) |
V233I |
probably benign |
Het |
| Ppp2r2a |
T |
C |
14: 67,276,361 (GRCm39) |
K48R |
probably benign |
Het |
| Ppp4r3c1 |
G |
A |
X: 88,975,129 (GRCm39) |
T356I |
probably benign |
Het |
| Rccd1 |
A |
T |
7: 79,968,755 (GRCm39) |
D268E |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,427,127 (GRCm39) |
S178R |
probably damaging |
Het |
| Samd12 |
T |
A |
15: 53,521,862 (GRCm39) |
D116V |
probably damaging |
Het |
| Slc12a8 |
A |
G |
16: 33,428,568 (GRCm39) |
E46G |
probably damaging |
Het |
| Slc30a10 |
A |
T |
1: 185,187,438 (GRCm39) |
I60F |
possibly damaging |
Het |
| Slc6a8 |
C |
T |
X: 72,722,583 (GRCm39) |
|
probably benign |
Het |
| Sos2 |
A |
G |
12: 69,664,822 (GRCm39) |
|
probably benign |
Het |
| Tbc1d31 |
T |
C |
15: 57,783,338 (GRCm39) |
V79A |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 78,331,443 (GRCm39) |
V102E |
probably benign |
Het |
| Ttc19 |
G |
T |
11: 62,203,939 (GRCm39) |
R300I |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 29,142,855 (GRCm39) |
I866F |
probably benign |
Het |
| Vmn1r7 |
A |
T |
6: 57,001,874 (GRCm39) |
C129S |
probably benign |
Het |
| Vps41 |
T |
A |
13: 18,975,827 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,331,724 (GRCm39) |
A1275V |
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 |
|
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 |
|
R9717:Fcgrt
|
UTSW |
7 |
44,744,853 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation