Incidental Mutation 'R8201:Fcgrt'
| ID |
635674 |
| 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 |
067624-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R8201 (G1)
|
| Quality Score |
215.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44742417-44753246 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44744634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 274
(Q274L)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000003512
AA Change: Q274L
PolyPhen 2
Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000003512
Gene: ENSMUSG00000003420
AA Change: Q274L
| 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: Q278L
PolyPhen 2
Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210734
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211352
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,195,046 (GRCm39) |
E543G |
probably benign |
Het |
| 2210408I21Rik |
T |
A |
13: 77,341,278 (GRCm39) |
N302K |
possibly damaging |
Het |
| Apbb2 |
T |
C |
5: 66,466,458 (GRCm39) |
N609S |
probably benign |
Het |
| Atp10a |
G |
T |
7: 58,469,424 (GRCm39) |
G1092* |
probably null |
Het |
| Ccdc150 |
A |
G |
1: 54,368,646 (GRCm39) |
N618S |
probably benign |
Het |
| Cct4 |
T |
A |
11: 22,949,115 (GRCm39) |
V287E |
probably damaging |
Het |
| Cyp2j7 |
A |
T |
4: 96,083,564 (GRCm39) |
I462N |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,475,960 (GRCm39) |
A611V |
probably benign |
Het |
| Dusp10 |
C |
A |
1: 183,769,202 (GRCm39) |
A56E |
possibly damaging |
Het |
| Entrep3 |
T |
C |
3: 89,093,115 (GRCm39) |
V291A |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,908,773 (GRCm39) |
C2410G |
possibly damaging |
Het |
| Fdxacb1 |
G |
T |
9: 50,681,455 (GRCm39) |
|
probably benign |
Het |
| Fubp1 |
T |
A |
3: 151,927,823 (GRCm39) |
I424N |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,060,373 (GRCm39) |
T159S |
probably damaging |
Het |
| Gm7168 |
T |
C |
17: 14,170,042 (GRCm39) |
C470R |
probably benign |
Het |
| Hebp1 |
A |
G |
6: 135,114,906 (GRCm39) |
V185A |
possibly damaging |
Het |
| Il18rap |
G |
T |
1: 40,578,429 (GRCm39) |
R280I |
possibly damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,456,093 (GRCm39) |
N771S |
probably damaging |
Het |
| Ndufaf4 |
A |
G |
4: 24,898,197 (GRCm39) |
N11D |
possibly damaging |
Het |
| Nkiras1 |
T |
C |
14: 18,276,908 (GRCm38) |
|
probably benign |
Het |
| Noct |
T |
C |
3: 51,155,444 (GRCm39) |
S135P |
probably benign |
Het |
| Or1e23 |
T |
A |
11: 73,407,899 (GRCm39) |
N42I |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,419,865 (GRCm39) |
*316R |
noncoding transcript |
Het |
| Or2w3b |
A |
C |
11: 58,623,940 (GRCm39) |
F17C |
probably damaging |
Het |
| Or7e177 |
G |
T |
9: 20,212,317 (GRCm39) |
G271C |
probably damaging |
Het |
| Or7e178 |
T |
C |
9: 20,225,908 (GRCm39) |
M103V |
probably benign |
Het |
| Pcdhac1 |
A |
T |
18: 37,223,892 (GRCm39) |
H235L |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,651,518 (GRCm39) |
|
probably benign |
Het |
| Pdlim1 |
A |
T |
19: 40,218,958 (GRCm39) |
D224E |
probably benign |
Het |
| Plpp3 |
G |
T |
4: 105,076,555 (GRCm39) |
G223W |
probably damaging |
Het |
| Rcan3 |
A |
G |
4: 135,147,684 (GRCm39) |
F81S |
probably damaging |
Het |
| Sel1l2 |
A |
C |
2: 140,108,312 (GRCm39) |
Y191D |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,408,447 (GRCm39) |
F833L |
probably damaging |
Het |
| Tchh |
T |
C |
3: 93,350,781 (GRCm39) |
F74L |
probably damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,278,431 (GRCm39) |
D725G |
probably benign |
Het |
| Tmem14c |
C |
T |
13: 41,171,186 (GRCm39) |
P10S |
probably benign |
Het |
| Ubb |
G |
A |
11: 62,443,053 (GRCm39) |
A28T |
probably benign |
Het |
| Vars2 |
A |
T |
17: 35,969,202 (GRCm39) |
V833E |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,507,474 (GRCm39) |
D528G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCACAGAGCTAATGGAG -3'
(R):5'- TAGCCTAGCCTAACTGCTGG -3'
Sequencing Primer
(F):5'- GAGGTCCTGAATTCAATTCCCAG -3'
(R):5'- ATTGCCTGTGTCCCTGCAGAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation