Incidental Mutation 'R7059:Fcrl2'
| ID |
548114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcrl2
|
| Ensembl Gene |
ENSMUSG00000015852 |
| Gene Name |
Fc receptor like 2 |
| Synonyms |
Fcrls, IFGP2, 2810439C17Rik, Msr2, Fcrh2, moFcRH2sc |
| MMRRC Submission |
045156-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R7059 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87158318-87171046 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87164647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 293
(I293N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090986]
[ENSMUST00000146512]
|
| AlphaFold |
Q9EQY5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090986
AA Change: I293N
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000088508
Gene: ENSMUSG00000015852
AA Change: I293N
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
23 |
106 |
1.32e-3 |
SMART |
|
IGc2
|
122 |
186 |
2.77e-6 |
SMART |
|
IGc2
|
226 |
291 |
1.09e-4 |
SMART |
|
IG
|
315 |
396 |
1e-3 |
SMART |
|
SR
|
402 |
503 |
7.29e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146512
|
| SMART Domains |
Protein: ENSMUSP00000115780
Gene: ENSMUSG00000015852
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
23 |
106 |
1.32e-3 |
SMART |
|
Pfam:Ig_2
|
111 |
176 |
6.1e-6 |
PFAM |
|
Pfam:Ig_3
|
111 |
176 |
1.4e-4 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
PHENOTYPE: Female homozygous mutant mice are larger than controls and show increased mean body weight, total tissue mass, lean body mass and total body fat. Homozygous mutant mice eshow a decreased mean percentage of CD8 cells in the peripheral blood. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
T |
C |
2: 32,464,509 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,020,971 (GRCm39) |
T5A |
probably benign |
Het |
| Abraxas1 |
T |
C |
5: 100,954,103 (GRCm39) |
D349G |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,468,295 (GRCm39) |
L405Q |
probably damaging |
Het |
| Aqp5 |
A |
T |
15: 99,492,127 (GRCm39) |
T125S |
probably benign |
Het |
| Asah1 |
A |
T |
8: 41,800,106 (GRCm39) |
N169K |
probably damaging |
Het |
| Atl3 |
A |
G |
19: 7,511,333 (GRCm39) |
N515D |
probably benign |
Het |
| Atl3 |
A |
C |
19: 7,511,334 (GRCm39) |
N520T |
probably benign |
Het |
| Atp6v1c2 |
C |
A |
12: 17,339,005 (GRCm39) |
E249* |
probably null |
Het |
| Bcl2a1b |
T |
A |
9: 89,081,813 (GRCm39) |
I134K |
probably damaging |
Het |
| Brd10 |
T |
A |
19: 29,696,945 (GRCm39) |
E849D |
probably benign |
Het |
| Btbd10 |
C |
T |
7: 112,929,129 (GRCm39) |
R159H |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,806,866 (GRCm39) |
F7L |
probably damaging |
Het |
| Colq |
C |
A |
14: 31,247,991 (GRCm39) |
C409F |
probably damaging |
Het |
| Cpox |
T |
A |
16: 58,491,290 (GRCm39) |
V167E |
probably damaging |
Het |
| Cul3 |
T |
C |
1: 80,254,141 (GRCm39) |
Y545C |
probably benign |
Het |
| Dqx1 |
C |
T |
6: 83,041,790 (GRCm39) |
A544V |
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,801,305 (GRCm39) |
I73T |
probably benign |
Het |
| Epha3 |
T |
A |
16: 63,388,818 (GRCm39) |
Y810F |
probably damaging |
Het |
| Esp36 |
A |
T |
17: 38,727,942 (GRCm39) |
I113N |
unknown |
Het |
| Fbxw17 |
T |
A |
13: 50,586,584 (GRCm39) |
W429R |
probably damaging |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Gm8126 |
T |
A |
14: 43,118,975 (GRCm39) |
L148H |
probably benign |
Het |
| Gpr39 |
C |
A |
1: 125,605,696 (GRCm39) |
S208Y |
probably damaging |
Het |
| Heatr5a |
T |
C |
12: 51,935,017 (GRCm39) |
E1662G |
probably damaging |
Het |
| Hgfac |
T |
A |
5: 35,201,773 (GRCm39) |
L302Q |
possibly damaging |
Het |
| Itih1 |
G |
A |
14: 30,653,266 (GRCm39) |
H721Y |
possibly damaging |
Het |
| Kat8 |
A |
G |
7: 127,524,075 (GRCm39) |
I372V |
probably benign |
Het |
| Kcnk1 |
T |
A |
8: 126,756,466 (GRCm39) |
Y329* |
probably null |
Het |
| Kcns2 |
A |
T |
15: 34,838,981 (GRCm39) |
I115F |
probably damaging |
Het |
| Kif1a |
C |
T |
1: 92,974,551 (GRCm39) |
|
probably benign |
Het |
| Lcn2 |
T |
A |
2: 32,277,608 (GRCm39) |
D127V |
possibly damaging |
Het |
| Lrfn1 |
T |
C |
7: 28,166,355 (GRCm39) |
V583A |
possibly damaging |
Het |
| Map3k1 |
T |
C |
13: 111,909,312 (GRCm39) |
I55V |
probably benign |
Het |
| Mapk9 |
T |
C |
11: 49,757,874 (GRCm39) |
|
probably null |
Het |
| Mrpl18 |
A |
G |
17: 13,132,668 (GRCm39) |
S154P |
possibly damaging |
Het |
| Mst1 |
C |
A |
9: 107,961,263 (GRCm39) |
H524Q |
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,396,202 (GRCm39) |
L498P |
probably damaging |
Het |
| Myl3 |
C |
T |
9: 110,571,105 (GRCm39) |
|
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,685,111 (GRCm39) |
T90A |
probably benign |
Het |
| Mzf1 |
G |
T |
7: 12,786,985 (GRCm39) |
S28R |
probably damaging |
Het |
| Olfm1 |
T |
C |
2: 28,112,628 (GRCm39) |
S205P |
probably damaging |
Het |
| Or52e8 |
A |
T |
7: 104,625,224 (GRCm39) |
|
probably null |
Het |
| Prrc2a |
G |
A |
17: 35,376,364 (GRCm39) |
P809S |
probably damaging |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Rbm48 |
A |
T |
5: 3,640,625 (GRCm39) |
C251* |
probably null |
Het |
| Rxfp1 |
A |
T |
3: 79,559,576 (GRCm39) |
V415E |
probably damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,183,257 (GRCm39) |
L748Q |
probably damaging |
Het |
| Slc19a3 |
T |
A |
1: 83,000,090 (GRCm39) |
Y309F |
probably damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,114,498 (GRCm39) |
D192G |
probably damaging |
Het |
| Slc38a4 |
G |
T |
15: 96,906,895 (GRCm39) |
S281* |
probably null |
Het |
| Syne1 |
A |
T |
10: 5,296,859 (GRCm39) |
S1201T |
probably damaging |
Het |
| Tex15 |
C |
A |
8: 34,064,758 (GRCm39) |
T1396K |
possibly damaging |
Het |
| Zswim8 |
G |
T |
14: 20,764,641 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Fcrl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01568:Fcrl2
|
APN |
3 |
87,163,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01959:Fcrl2
|
APN |
3 |
87,166,939 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02409:Fcrl2
|
APN |
3 |
87,160,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02677:Fcrl2
|
APN |
3 |
87,166,694 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02957:Fcrl2
|
APN |
3 |
87,169,501 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02974:Fcrl2
|
APN |
3 |
87,164,704 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02992:Fcrl2
|
APN |
3 |
87,166,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB001:Fcrl2
|
UTSW |
3 |
87,166,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB011:Fcrl2
|
UTSW |
3 |
87,166,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0052:Fcrl2
|
UTSW |
3 |
87,164,085 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0052:Fcrl2
|
UTSW |
3 |
87,164,085 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0131:Fcrl2
|
UTSW |
3 |
87,166,266 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1171:Fcrl2
|
UTSW |
3 |
87,164,167 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1319:Fcrl2
|
UTSW |
3 |
87,169,484 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1522:Fcrl2
|
UTSW |
3 |
87,164,014 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1696:Fcrl2
|
UTSW |
3 |
87,166,825 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1742:Fcrl2
|
UTSW |
3 |
87,166,350 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2156:Fcrl2
|
UTSW |
3 |
87,164,648 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2255:Fcrl2
|
UTSW |
3 |
87,164,655 (GRCm39) |
nonsense |
probably null |
|
|
R2257:Fcrl2
|
UTSW |
3 |
87,166,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2434:Fcrl2
|
UTSW |
3 |
87,164,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2680:Fcrl2
|
UTSW |
3 |
87,164,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3552:Fcrl2
|
UTSW |
3 |
87,166,717 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4866:Fcrl2
|
UTSW |
3 |
87,170,773 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4883:Fcrl2
|
UTSW |
3 |
87,166,922 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5654:Fcrl2
|
UTSW |
3 |
87,164,851 (GRCm39) |
missense |
probably benign |
|
|
R5771:Fcrl2
|
UTSW |
3 |
87,170,775 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5917:Fcrl2
|
UTSW |
3 |
87,164,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6349:Fcrl2
|
UTSW |
3 |
87,159,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6562:Fcrl2
|
UTSW |
3 |
87,164,635 (GRCm39) |
missense |
probably benign |
|
|
R6954:Fcrl2
|
UTSW |
3 |
87,170,983 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7188:Fcrl2
|
UTSW |
3 |
87,166,830 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7201:Fcrl2
|
UTSW |
3 |
87,159,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7369:Fcrl2
|
UTSW |
3 |
87,164,008 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7431:Fcrl2
|
UTSW |
3 |
87,166,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7610:Fcrl2
|
UTSW |
3 |
87,160,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7924:Fcrl2
|
UTSW |
3 |
87,166,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8018:Fcrl2
|
UTSW |
3 |
87,166,933 (GRCm39) |
nonsense |
probably null |
|
|
R8280:Fcrl2
|
UTSW |
3 |
87,166,364 (GRCm39) |
nonsense |
probably null |
|
|
R8981:Fcrl2
|
UTSW |
3 |
87,164,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9368:Fcrl2
|
UTSW |
3 |
87,164,906 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9477:Fcrl2
|
UTSW |
3 |
87,159,803 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9522:Fcrl2
|
UTSW |
3 |
87,164,101 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGCCACTTTGACACCCAC -3'
(R):5'- TGGAGATCCAGCCTTCAAGAG -3'
Sequencing Primer
(F):5'- CTTTGACACCCACCGACC -3'
(R):5'- AGCCACTGGTCGTTGAAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation