Incidental Mutation 'R7081:Fcamr'
ID |
549493 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcamr
|
Ensembl Gene |
ENSMUSG00000026415 |
Gene Name |
Fc receptor, IgA, IgM, high affinity |
Synonyms |
|
MMRRC Submission |
045175-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R7081 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
130728639-130742477 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 130740949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 456
(E456V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108096
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027670]
[ENSMUST00000112477]
|
AlphaFold |
Q2TB54 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027670
AA Change: E400V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027670 Gene: ENSMUSG00000026415 AA Change: E400V
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: E456V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108096 Gene: ENSMUSG00000026415 AA Change: E456V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
T |
A |
11: 84,361,951 (GRCm39) |
H337L |
possibly damaging |
Het |
Abcb4 |
T |
A |
5: 8,984,263 (GRCm39) |
N664K |
probably benign |
Het |
Adh7 |
A |
G |
3: 137,934,606 (GRCm39) |
D343G |
probably benign |
Het |
Als2cl |
G |
A |
9: 110,723,650 (GRCm39) |
R682Q |
possibly damaging |
Het |
Angptl6 |
A |
C |
9: 20,786,644 (GRCm39) |
I334R |
probably damaging |
Het |
Ankrd45 |
A |
G |
1: 160,978,863 (GRCm39) |
N101D |
probably benign |
Het |
Arhgef10 |
C |
T |
8: 15,047,547 (GRCm39) |
Q1137* |
probably null |
Het |
Asap3 |
T |
A |
4: 135,968,881 (GRCm39) |
|
probably null |
Het |
Bmp2k |
T |
C |
5: 97,212,820 (GRCm39) |
S568P |
unknown |
Het |
C4b |
A |
C |
17: 34,954,417 (GRCm39) |
F917L |
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,576,129 (GRCm39) |
V168E |
possibly damaging |
Het |
Ccdc60 |
T |
A |
5: 116,264,146 (GRCm39) |
I543F |
probably benign |
Het |
Cd36 |
T |
C |
5: 18,019,702 (GRCm39) |
D133G |
probably damaging |
Het |
Chd4 |
T |
C |
6: 125,106,948 (GRCm39) |
V1911A |
unknown |
Het |
Cplx4 |
A |
T |
18: 66,100,538 (GRCm39) |
|
probably null |
Het |
Cyp1a2 |
A |
T |
9: 57,586,272 (GRCm39) |
D415E |
possibly damaging |
Het |
Cyp3a57 |
T |
C |
5: 145,318,183 (GRCm39) |
I388T |
probably damaging |
Het |
Dnajc5b |
T |
C |
3: 19,601,025 (GRCm39) |
|
probably null |
Het |
Dock4 |
A |
T |
12: 40,671,285 (GRCm39) |
I35F |
probably damaging |
Het |
Efna4 |
A |
T |
3: 89,241,601 (GRCm39) |
L206Q |
unknown |
Het |
Eif2a |
T |
C |
3: 58,449,139 (GRCm39) |
|
probably null |
Het |
Fam120a |
A |
G |
13: 49,063,801 (GRCm39) |
F612L |
probably damaging |
Het |
Fbxw21 |
A |
G |
9: 108,990,990 (GRCm39) |
L23P |
probably damaging |
Het |
Fkbp8 |
G |
A |
8: 70,983,644 (GRCm39) |
R106H |
probably benign |
Het |
Galr2 |
T |
A |
11: 116,173,874 (GRCm39) |
L168Q |
probably damaging |
Het |
Gm11111 |
C |
T |
5: 98,701,399 (GRCm39) |
S22L |
unknown |
Het |
Gnpat |
T |
C |
8: 125,590,008 (GRCm39) |
F11S |
possibly damaging |
Het |
H2-T24 |
A |
T |
17: 36,328,344 (GRCm39) |
D46E |
probably damaging |
Het |
Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
Ifna12 |
T |
C |
4: 88,521,440 (GRCm39) |
R36G |
probably damaging |
Het |
Kcnma1 |
G |
A |
14: 23,350,086 (GRCm39) |
P1151L |
probably damaging |
Het |
Kif5c |
T |
A |
2: 49,631,373 (GRCm39) |
D683E |
probably benign |
Het |
Krit1 |
T |
C |
5: 3,873,651 (GRCm39) |
Y477H |
possibly damaging |
Het |
Lipm |
T |
A |
19: 34,098,723 (GRCm39) |
V399D |
possibly damaging |
Het |
Lrguk |
A |
T |
6: 34,079,074 (GRCm39) |
T770S |
probably benign |
Het |
Lrrc37a |
T |
C |
11: 103,348,781 (GRCm39) |
N2638S |
unknown |
Het |
Lrrc40 |
T |
C |
3: 157,742,442 (GRCm39) |
V27A |
probably damaging |
Het |
Map4k1 |
T |
C |
7: 28,690,574 (GRCm39) |
V355A |
probably benign |
Het |
Mylk3 |
T |
C |
8: 86,091,422 (GRCm39) |
I128V |
probably benign |
Het |
Myo1c |
A |
G |
11: 75,551,789 (GRCm39) |
D289G |
probably benign |
Het |
Mypn |
A |
G |
10: 62,970,737 (GRCm39) |
F889S |
probably damaging |
Het |
Ndufv3 |
C |
T |
17: 31,746,407 (GRCm39) |
P99L |
possibly damaging |
Het |
Nlrp10 |
A |
C |
7: 108,523,855 (GRCm39) |
S542A |
probably benign |
Het |
Noc2l |
T |
A |
4: 156,331,477 (GRCm39) |
D718E |
possibly damaging |
Het |
Ntng1 |
T |
A |
3: 109,759,105 (GRCm39) |
I355F |
probably benign |
Het |
Nup210 |
A |
G |
6: 91,037,647 (GRCm39) |
V742A |
possibly damaging |
Het |
Nup50l |
A |
G |
6: 96,142,798 (GRCm39) |
V82A |
possibly damaging |
Het |
Olig2 |
T |
A |
16: 91,023,307 (GRCm39) |
L7Q |
probably damaging |
Het |
Or51f23b |
A |
T |
7: 102,402,395 (GRCm39) |
I247N |
probably benign |
Het |
Or8u10 |
A |
T |
2: 85,915,939 (GRCm39) |
F61I |
probably damaging |
Het |
Parpbp |
A |
T |
10: 87,929,517 (GRCm39) |
W444R |
probably damaging |
Het |
Plekhg3 |
A |
G |
12: 76,625,019 (GRCm39) |
E1287G |
probably benign |
Het |
Pramel16 |
T |
C |
4: 143,675,848 (GRCm39) |
D326G |
probably damaging |
Het |
Pramel56 |
T |
A |
5: 95,022,641 (GRCm39) |
N107K |
possibly damaging |
Het |
Prrc2b |
A |
T |
2: 32,103,075 (GRCm39) |
Q851L |
probably benign |
Het |
Psg21 |
C |
T |
7: 18,388,774 (GRCm39) |
W106* |
probably null |
Het |
Rab18 |
T |
G |
18: 6,778,529 (GRCm39) |
D53E |
probably benign |
Het |
Rbm19 |
T |
A |
5: 120,261,216 (GRCm39) |
|
probably null |
Het |
Rhobtb1 |
T |
C |
10: 69,102,127 (GRCm39) |
V136A |
probably benign |
Het |
Rsph4a |
G |
A |
10: 33,785,189 (GRCm39) |
V367I |
probably damaging |
Het |
Sec24b |
T |
C |
3: 129,781,391 (GRCm39) |
N1161S |
probably benign |
Het |
Sgcd |
C |
A |
11: 47,016,428 (GRCm39) |
G145* |
probably null |
Het |
Sin3a |
A |
G |
9: 57,001,755 (GRCm39) |
K134R |
probably null |
Het |
Slc9b2 |
A |
G |
3: 135,027,698 (GRCm39) |
E108G |
probably benign |
Het |
Stk24 |
A |
T |
14: 121,531,706 (GRCm39) |
S317T |
probably benign |
Het |
Stra8 |
T |
A |
6: 34,911,302 (GRCm39) |
|
probably null |
Het |
Tmem131 |
A |
G |
1: 36,928,376 (GRCm39) |
V71A |
possibly damaging |
Het |
Tmem87a |
T |
C |
2: 120,211,264 (GRCm39) |
D227G |
possibly damaging |
Het |
Vnn1 |
T |
A |
10: 23,770,903 (GRCm39) |
L44M |
possibly damaging |
Het |
Wdr20 |
G |
A |
12: 110,769,884 (GRCm39) |
V160I |
possibly damaging |
Het |
Zfand4 |
T |
A |
6: 116,292,581 (GRCm39) |
N667K |
possibly damaging |
Het |
Zfp1005 |
A |
G |
2: 150,110,189 (GRCm39) |
H293R |
possibly damaging |
Het |
Zfp609 |
A |
G |
9: 65,609,723 (GRCm39) |
V1080A |
possibly damaging |
Het |
Zhx1 |
C |
T |
15: 57,917,734 (GRCm39) |
V171I |
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 |
R4624:Fcamr
|
UTSW |
1 |
130,730,999 (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 |
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'- AACAGACGTCAGGGTGTCTC -3'
(R):5'- GATATGCGCTCTATCCCACC -3'
Sequencing Primer
(F):5'- ACGTCAGGGTGTCTCCAGAAG -3'
(R):5'- CACCCTTTACTGACTGGTAAGATAC -3'
|
Posted On |
2019-05-15 |