Incidental Mutation 'R4624:Fcamr'
ID |
346381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcamr
|
Ensembl Gene |
ENSMUSG00000026415 |
Gene Name |
Fc receptor, IgA, IgM, high affinity |
Synonyms |
|
MMRRC Submission |
041889-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R4624 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
130728639-130742477 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 130730999 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 28
(L28R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027670]
[ENSMUST00000112477]
|
AlphaFold |
Q2TB54 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027670
AA Change: L28R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027670 Gene: ENSMUSG00000026415 AA Change: L28R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
IG
|
87 |
191 |
1.19e-5 |
SMART |
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
low complexity region
|
241 |
253 |
N/A |
INTRINSIC |
transmembrane domain
|
456 |
475 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112477
AA Change: L84R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108096 Gene: ENSMUSG00000026415 AA Change: L84R
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
87 |
N/A |
INTRINSIC |
IG
|
143 |
247 |
1.19e-5 |
SMART |
low complexity region
|
264 |
276 |
N/A |
INTRINSIC |
low complexity region
|
297 |
309 |
N/A |
INTRINSIC |
transmembrane domain
|
512 |
531 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2792 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
93% (85/91) |
MGI Phenotype |
PHENOTYPE: Homozygous null mice have enhanced germinal center formation, affinity maturation and memory induction of IgG3 producing B cells after immunization with T cell-independent antigens. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730409E04Rik |
A |
G |
4: 126,505,873 (GRCm39) |
T134A |
possibly damaging |
Het |
Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
Adgb |
C |
A |
10: 10,278,748 (GRCm39) |
V267L |
probably benign |
Het |
Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankrd52 |
A |
G |
10: 128,225,128 (GRCm39) |
H863R |
probably damaging |
Het |
Ap3b1 |
A |
G |
13: 94,619,734 (GRCm39) |
R766G |
unknown |
Het |
Apol7c |
A |
G |
15: 77,410,595 (GRCm39) |
F117S |
probably damaging |
Het |
Bcr |
A |
T |
10: 74,989,752 (GRCm39) |
E716V |
probably damaging |
Het |
Borcs6 |
T |
C |
11: 68,951,423 (GRCm39) |
L267P |
probably damaging |
Het |
Ccdc184 |
A |
T |
15: 98,066,638 (GRCm39) |
N148Y |
probably benign |
Het |
Ccdc50 |
A |
G |
16: 27,255,351 (GRCm39) |
K223R |
probably null |
Het |
Cd2 |
T |
G |
3: 101,194,747 (GRCm39) |
K114Q |
probably benign |
Het |
Cdh19 |
T |
C |
1: 110,859,981 (GRCm39) |
K167E |
probably benign |
Het |
Cep131 |
T |
C |
11: 119,961,658 (GRCm39) |
E558G |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,200,059 (GRCm39) |
V3423E |
probably damaging |
Het |
Cnot6l |
A |
G |
5: 96,225,070 (GRCm39) |
V541A |
probably benign |
Het |
Cntn5 |
A |
T |
9: 9,704,809 (GRCm39) |
C663* |
probably null |
Het |
Dnaaf4 |
A |
G |
9: 72,871,453 (GRCm39) |
I238V |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,456,913 (GRCm39) |
I893T |
possibly damaging |
Het |
Dop1a |
G |
A |
9: 86,403,578 (GRCm39) |
V129M |
probably damaging |
Het |
Exoc6b |
A |
G |
6: 84,831,791 (GRCm39) |
|
probably benign |
Het |
Ext2 |
A |
G |
2: 93,533,545 (GRCm39) |
V671A |
probably benign |
Het |
Fer1l6 |
T |
C |
15: 58,425,554 (GRCm39) |
I144T |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,907,343 (GRCm39) |
L839P |
probably damaging |
Het |
Fscn2 |
A |
T |
11: 120,258,169 (GRCm39) |
I364F |
probably benign |
Het |
Gm10291 |
T |
C |
3: 78,824,581 (GRCm39) |
|
noncoding transcript |
Het |
Gm29125 |
T |
C |
1: 80,362,676 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
C |
6: 135,710,823 (GRCm39) |
M908V |
probably damaging |
Het |
Helz2 |
T |
C |
2: 180,881,101 (GRCm39) |
E436G |
probably damaging |
Het |
Hfe |
A |
T |
13: 23,890,061 (GRCm39) |
C149* |
probably null |
Het |
Hs1bp3 |
T |
C |
12: 8,386,357 (GRCm39) |
V253A |
probably benign |
Het |
Kat14 |
A |
G |
2: 144,246,140 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnh3 |
T |
A |
15: 99,124,253 (GRCm39) |
D47E |
probably damaging |
Het |
Kcp |
A |
G |
6: 29,482,813 (GRCm39) |
F1419L |
possibly damaging |
Het |
Kera |
A |
G |
10: 97,445,493 (GRCm39) |
N284S |
probably benign |
Het |
Klhl24 |
A |
G |
16: 19,938,873 (GRCm39) |
D476G |
probably damaging |
Het |
Krt79 |
T |
A |
15: 101,848,241 (GRCm39) |
T137S |
possibly damaging |
Het |
Lilrb4a |
A |
G |
10: 51,367,584 (GRCm39) |
Y42C |
probably damaging |
Het |
Lnx1 |
C |
T |
5: 74,821,121 (GRCm39) |
|
probably benign |
Het |
Map3k14 |
A |
G |
11: 103,121,927 (GRCm39) |
Y497H |
probably damaging |
Het |
Mmut |
G |
A |
17: 41,257,946 (GRCm39) |
E371K |
probably damaging |
Het |
Nkx2-6 |
A |
G |
14: 69,412,375 (GRCm39) |
Q181R |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,368,093 (GRCm39) |
K631R |
possibly damaging |
Het |
Or5an10 |
C |
T |
19: 12,276,347 (GRCm39) |
V50I |
probably benign |
Het |
Pcdh9 |
T |
A |
14: 94,123,845 (GRCm39) |
N775I |
probably damaging |
Het |
Phkb |
T |
A |
8: 86,575,341 (GRCm39) |
|
probably benign |
Het |
Pick1 |
T |
A |
15: 79,130,666 (GRCm39) |
I250N |
probably damaging |
Het |
Plec |
T |
C |
15: 76,059,335 (GRCm39) |
E3556G |
probably damaging |
Het |
Prex2 |
C |
T |
1: 11,359,489 (GRCm39) |
Q1566* |
probably null |
Het |
Ptgr2 |
T |
G |
12: 84,355,128 (GRCm39) |
F287L |
possibly damaging |
Het |
Ptprv |
T |
C |
1: 135,051,869 (GRCm39) |
|
noncoding transcript |
Het |
Rab5b |
G |
T |
10: 128,519,130 (GRCm39) |
H83Q |
probably benign |
Het |
Ranbp6 |
A |
T |
19: 29,788,263 (GRCm39) |
Y696* |
probably null |
Het |
Rapgef3 |
G |
T |
15: 97,656,810 (GRCm39) |
D318E |
probably damaging |
Het |
Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
Rsrc1 |
T |
C |
3: 67,257,311 (GRCm39) |
V241A |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 12,121,301 (GRCm39) |
I11N |
possibly damaging |
Het |
S100a11 |
T |
C |
3: 93,433,321 (GRCm39) |
L55P |
probably damaging |
Het |
Sec13 |
A |
G |
6: 113,706,652 (GRCm39) |
S254P |
probably benign |
Het |
Slc25a36 |
G |
A |
9: 96,961,178 (GRCm39) |
T147I |
probably damaging |
Het |
Spata31d1c |
A |
G |
13: 65,184,411 (GRCm39) |
E651G |
probably benign |
Het |
Stox2 |
C |
A |
8: 47,646,851 (GRCm39) |
R203L |
probably damaging |
Het |
Tbc1d30 |
A |
T |
10: 121,132,691 (GRCm39) |
D224E |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,936,881 (GRCm39) |
L1389P |
probably damaging |
Het |
Tmprss11b |
T |
C |
5: 86,812,895 (GRCm39) |
S134G |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
Tnnt1 |
G |
A |
7: 4,515,267 (GRCm39) |
|
probably benign |
Het |
Tpst2 |
A |
G |
5: 112,456,162 (GRCm39) |
M234V |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,603,804 (GRCm39) |
D208G |
probably benign |
Het |
Ube2c |
A |
G |
2: 164,614,093 (GRCm39) |
N143S |
possibly damaging |
Het |
Unc45b |
T |
A |
11: 82,816,835 (GRCm39) |
M425K |
probably benign |
Het |
Uvssa |
G |
A |
5: 33,547,300 (GRCm39) |
E289K |
possibly damaging |
Het |
Vmn2r11 |
T |
A |
5: 109,200,101 (GRCm39) |
R451W |
probably damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,484,341 (GRCm39) |
Y488C |
probably damaging |
Het |
Vmn2r55 |
T |
A |
7: 12,404,627 (GRCm39) |
I259F |
possibly damaging |
Het |
Wdfy3 |
C |
T |
5: 102,031,949 (GRCm39) |
R2277Q |
possibly damaging |
Het |
Wdr64 |
T |
G |
1: 175,599,829 (GRCm39) |
M111R |
probably benign |
Het |
|
Other mutations in Fcamr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00840:Fcamr
|
APN |
1 |
130,740,951 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02880:Fcamr
|
APN |
1 |
130,741,071 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03199:Fcamr
|
APN |
1 |
130,740,655 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03392:Fcamr
|
APN |
1 |
130,728,685 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL03398:Fcamr
|
APN |
1 |
130,730,985 (GRCm39) |
missense |
probably damaging |
0.97 |
R1101:Fcamr
|
UTSW |
1 |
130,742,223 (GRCm39) |
splice site |
probably null |
|
R1312:Fcamr
|
UTSW |
1 |
130,739,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R1351:Fcamr
|
UTSW |
1 |
130,740,757 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1387:Fcamr
|
UTSW |
1 |
130,732,379 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1475:Fcamr
|
UTSW |
1 |
130,742,221 (GRCm39) |
splice site |
probably null |
|
R1728:Fcamr
|
UTSW |
1 |
130,740,553 (GRCm39) |
missense |
probably benign |
0.41 |
R1728:Fcamr
|
UTSW |
1 |
130,742,334 (GRCm39) |
missense |
probably benign |
|
R1728:Fcamr
|
UTSW |
1 |
130,732,306 (GRCm39) |
missense |
probably benign |
0.06 |
R1728:Fcamr
|
UTSW |
1 |
130,732,364 (GRCm39) |
missense |
probably benign |
0.00 |
R1728:Fcamr
|
UTSW |
1 |
130,739,317 (GRCm39) |
missense |
probably benign |
|
R1728:Fcamr
|
UTSW |
1 |
130,740,366 (GRCm39) |
missense |
probably benign |
0.38 |
R1728:Fcamr
|
UTSW |
1 |
130,740,429 (GRCm39) |
missense |
probably benign |
|
R1728:Fcamr
|
UTSW |
1 |
130,740,475 (GRCm39) |
missense |
probably benign |
0.00 |
R1728:Fcamr
|
UTSW |
1 |
130,740,546 (GRCm39) |
missense |
probably benign |
0.02 |
R1729:Fcamr
|
UTSW |
1 |
130,742,334 (GRCm39) |
missense |
probably benign |
|
R1729:Fcamr
|
UTSW |
1 |
130,732,364 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Fcamr
|
UTSW |
1 |
130,739,317 (GRCm39) |
missense |
probably benign |
|
R1729:Fcamr
|
UTSW |
1 |
130,740,366 (GRCm39) |
missense |
probably benign |
0.38 |
R1729:Fcamr
|
UTSW |
1 |
130,740,429 (GRCm39) |
missense |
probably benign |
|
R1729:Fcamr
|
UTSW |
1 |
130,740,475 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Fcamr
|
UTSW |
1 |
130,740,546 (GRCm39) |
missense |
probably benign |
0.02 |
R1729:Fcamr
|
UTSW |
1 |
130,740,553 (GRCm39) |
missense |
probably benign |
0.41 |
R1730:Fcamr
|
UTSW |
1 |
130,740,366 (GRCm39) |
missense |
probably benign |
0.38 |
R1730:Fcamr
|
UTSW |
1 |
130,740,429 (GRCm39) |
missense |
probably benign |
|
R1730:Fcamr
|
UTSW |
1 |
130,740,475 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Fcamr
|
UTSW |
1 |
130,740,546 (GRCm39) |
missense |
probably benign |
0.02 |
R1730:Fcamr
|
UTSW |
1 |
130,740,553 (GRCm39) |
missense |
probably benign |
0.41 |
R1730:Fcamr
|
UTSW |
1 |
130,742,334 (GRCm39) |
missense |
probably benign |
|
R1730:Fcamr
|
UTSW |
1 |
130,739,317 (GRCm39) |
missense |
probably benign |
|
R1739:Fcamr
|
UTSW |
1 |
130,732,364 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Fcamr
|
UTSW |
1 |
130,739,317 (GRCm39) |
missense |
probably benign |
|
R1739:Fcamr
|
UTSW |
1 |
130,740,366 (GRCm39) |
missense |
probably benign |
0.38 |
R1739:Fcamr
|
UTSW |
1 |
130,740,429 (GRCm39) |
missense |
probably benign |
|
R1739:Fcamr
|
UTSW |
1 |
130,740,475 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Fcamr
|
UTSW |
1 |
130,740,546 (GRCm39) |
missense |
probably benign |
0.02 |
R1739:Fcamr
|
UTSW |
1 |
130,740,553 (GRCm39) |
missense |
probably benign |
0.41 |
R1739:Fcamr
|
UTSW |
1 |
130,742,334 (GRCm39) |
missense |
probably benign |
|
R1762:Fcamr
|
UTSW |
1 |
130,732,364 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Fcamr
|
UTSW |
1 |
130,739,317 (GRCm39) |
missense |
probably benign |
|
R1762:Fcamr
|
UTSW |
1 |
130,740,366 (GRCm39) |
missense |
probably benign |
0.38 |
R1762:Fcamr
|
UTSW |
1 |
130,740,429 (GRCm39) |
missense |
probably benign |
|
R1762:Fcamr
|
UTSW |
1 |
130,740,475 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Fcamr
|
UTSW |
1 |
130,740,546 (GRCm39) |
missense |
probably benign |
0.02 |
R1762:Fcamr
|
UTSW |
1 |
130,740,553 (GRCm39) |
missense |
probably benign |
0.41 |
R1762:Fcamr
|
UTSW |
1 |
130,742,334 (GRCm39) |
missense |
probably benign |
|
R1783:Fcamr
|
UTSW |
1 |
130,740,553 (GRCm39) |
missense |
probably benign |
0.41 |
R1783:Fcamr
|
UTSW |
1 |
130,742,334 (GRCm39) |
missense |
probably benign |
|
R1783:Fcamr
|
UTSW |
1 |
130,740,546 (GRCm39) |
missense |
probably benign |
0.02 |
R1783:Fcamr
|
UTSW |
1 |
130,740,475 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Fcamr
|
UTSW |
1 |
130,740,429 (GRCm39) |
missense |
probably benign |
|
R1783:Fcamr
|
UTSW |
1 |
130,740,366 (GRCm39) |
missense |
probably benign |
0.38 |
R1783:Fcamr
|
UTSW |
1 |
130,739,317 (GRCm39) |
missense |
probably benign |
|
R1783:Fcamr
|
UTSW |
1 |
130,732,364 (GRCm39) |
missense |
probably benign |
0.00 |
R1784:Fcamr
|
UTSW |
1 |
130,742,334 (GRCm39) |
missense |
probably benign |
|
R1784:Fcamr
|
UTSW |
1 |
130,740,553 (GRCm39) |
missense |
probably benign |
0.41 |
R1784:Fcamr
|
UTSW |
1 |
130,740,546 (GRCm39) |
missense |
probably benign |
0.02 |
R1784:Fcamr
|
UTSW |
1 |
130,740,475 (GRCm39) |
missense |
probably benign |
0.00 |
R1784:Fcamr
|
UTSW |
1 |
130,740,429 (GRCm39) |
missense |
probably benign |
|
R1784:Fcamr
|
UTSW |
1 |
130,740,366 (GRCm39) |
missense |
probably benign |
0.38 |
R1784:Fcamr
|
UTSW |
1 |
130,739,317 (GRCm39) |
missense |
probably benign |
|
R1784:Fcamr
|
UTSW |
1 |
130,732,364 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Fcamr
|
UTSW |
1 |
130,740,546 (GRCm39) |
missense |
probably benign |
0.02 |
R1785:Fcamr
|
UTSW |
1 |
130,740,475 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Fcamr
|
UTSW |
1 |
130,740,429 (GRCm39) |
missense |
probably benign |
|
R1785:Fcamr
|
UTSW |
1 |
130,740,366 (GRCm39) |
missense |
probably benign |
0.38 |
R1785:Fcamr
|
UTSW |
1 |
130,739,317 (GRCm39) |
missense |
probably benign |
|
R1785:Fcamr
|
UTSW |
1 |
130,732,364 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Fcamr
|
UTSW |
1 |
130,732,306 (GRCm39) |
missense |
probably benign |
0.06 |
R1785:Fcamr
|
UTSW |
1 |
130,742,334 (GRCm39) |
missense |
probably benign |
|
R1785:Fcamr
|
UTSW |
1 |
130,740,553 (GRCm39) |
missense |
probably benign |
0.41 |
R1793:Fcamr
|
UTSW |
1 |
130,739,284 (GRCm39) |
missense |
probably benign |
0.03 |
R2085:Fcamr
|
UTSW |
1 |
130,739,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R3937:Fcamr
|
UTSW |
1 |
130,732,313 (GRCm39) |
missense |
probably damaging |
0.97 |
R4529:Fcamr
|
UTSW |
1 |
130,732,313 (GRCm39) |
missense |
probably damaging |
0.99 |
R4822:Fcamr
|
UTSW |
1 |
130,740,423 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5055:Fcamr
|
UTSW |
1 |
130,739,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R5514:Fcamr
|
UTSW |
1 |
130,741,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R5807:Fcamr
|
UTSW |
1 |
130,739,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R6077:Fcamr
|
UTSW |
1 |
130,740,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R6200:Fcamr
|
UTSW |
1 |
130,730,927 (GRCm39) |
missense |
probably benign |
0.16 |
R6653:Fcamr
|
UTSW |
1 |
130,740,939 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7081:Fcamr
|
UTSW |
1 |
130,740,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R7362:Fcamr
|
UTSW |
1 |
130,741,760 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7828:Fcamr
|
UTSW |
1 |
130,739,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R7861:Fcamr
|
UTSW |
1 |
130,742,375 (GRCm39) |
missense |
probably benign |
|
R8188:Fcamr
|
UTSW |
1 |
130,730,665 (GRCm39) |
splice site |
probably null |
|
R8869:Fcamr
|
UTSW |
1 |
130,739,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R8907:Fcamr
|
UTSW |
1 |
130,740,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R9568:Fcamr
|
UTSW |
1 |
130,732,356 (GRCm39) |
missense |
probably damaging |
0.99 |
X0012:Fcamr
|
UTSW |
1 |
130,740,471 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAATCTTCCTGGCAGCACCTC -3'
(R):5'- AGTCTCCCCTAAGCTCTCATGG -3'
Sequencing Primer
(F):5'- TTGCCAGGACACGCAGTTC -3'
(R):5'- ATGGCCTTCATTTCCCAGAG -3'
|
Posted On |
2015-09-25 |