Incidental Mutation 'R6562:Fcrl2'
| ID |
522416 |
| 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 |
044686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6562 (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 C
at 87164635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 297
(I297S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090986]
[ENSMUST00000146512]
|
| AlphaFold |
Q9EQY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090986
AA Change: I297S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088508
Gene: ENSMUSG00000015852
AA Change: I297S
| 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: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
100% (60/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,970,543 (GRCm39) |
K26E |
probably benign |
Het |
| Abt1 |
T |
G |
13: 23,607,758 (GRCm39) |
E82A |
probably damaging |
Het |
| Actr8 |
A |
G |
14: 29,708,411 (GRCm39) |
|
probably null |
Het |
| Akap12 |
G |
T |
10: 4,306,141 (GRCm39) |
E984* |
probably null |
Het |
| Ankrd13a |
C |
A |
5: 114,942,453 (GRCm39) |
|
probably benign |
Het |
| Ankrd13c |
T |
A |
3: 157,705,309 (GRCm39) |
S411T |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,124,647 (GRCm39) |
|
probably null |
Het |
| Arhgef3 |
A |
T |
14: 26,874,953 (GRCm39) |
|
probably benign |
Het |
| Atad5 |
T |
C |
11: 80,024,032 (GRCm39) |
S1712P |
probably benign |
Het |
| Bbs12 |
A |
G |
3: 37,374,389 (GRCm39) |
E394G |
probably damaging |
Het |
| Ccdc158 |
T |
G |
5: 92,810,581 (GRCm39) |
K102N |
probably damaging |
Het |
| Ccdc169 |
A |
G |
3: 55,058,235 (GRCm39) |
N89S |
probably damaging |
Het |
| Cd200l1 |
C |
T |
16: 45,264,442 (GRCm39) |
E39K |
probably benign |
Het |
| Cenpu |
T |
C |
8: 47,025,858 (GRCm39) |
I132T |
possibly damaging |
Het |
| Cnrip1 |
G |
A |
11: 17,028,539 (GRCm39) |
W157* |
probably null |
Het |
| Ctnnd1 |
A |
G |
2: 84,454,652 (GRCm39) |
S53P |
probably benign |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,879,647 (GRCm39) |
V969D |
probably damaging |
Het |
| Ehd2 |
C |
A |
7: 15,691,492 (GRCm39) |
R280L |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,432,974 (GRCm39) |
T218A |
probably damaging |
Het |
| Frmpd2 |
T |
A |
14: 33,293,872 (GRCm39) |
L1346Q |
probably benign |
Het |
| Fry |
T |
C |
5: 150,249,614 (GRCm39) |
S142P |
probably damaging |
Het |
| Gbgt1 |
A |
T |
2: 28,394,898 (GRCm39) |
I179F |
probably damaging |
Het |
| Gm17067 |
A |
T |
7: 42,358,153 (GRCm39) |
S116R |
probably damaging |
Het |
| Gm5565 |
G |
T |
5: 146,094,964 (GRCm39) |
P261T |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,401,803 (GRCm39) |
F391L |
probably benign |
Het |
| Kcnmb4 |
A |
T |
10: 116,309,089 (GRCm39) |
|
probably null |
Het |
| Krt6a |
T |
A |
15: 101,600,094 (GRCm39) |
H386L |
probably benign |
Het |
| L3mbtl1 |
C |
T |
2: 162,812,124 (GRCm39) |
T723I |
probably benign |
Het |
| Lamb2 |
A |
T |
9: 108,364,207 (GRCm39) |
R1049W |
possibly damaging |
Het |
| Lrmda |
T |
C |
14: 22,648,254 (GRCm39) |
|
probably benign |
Het |
| Lysmd2 |
C |
T |
9: 75,542,691 (GRCm39) |
T95I |
unknown |
Het |
| Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,102,728 (GRCm39) |
D300G |
probably damaging |
Het |
| Nutf2 |
G |
T |
8: 106,602,258 (GRCm39) |
D23Y |
probably benign |
Het |
| Or6c211 |
G |
A |
10: 129,506,008 (GRCm39) |
P127S |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,887,589 (GRCm39) |
Y300C |
probably damaging |
Het |
| Pgghg |
A |
G |
7: 140,526,506 (GRCm39) |
I633V |
probably benign |
Het |
| Pik3r3 |
C |
T |
4: 116,157,006 (GRCm39) |
Q496* |
probably null |
Het |
| Pkn3 |
G |
T |
2: 29,970,699 (GRCm39) |
|
probably null |
Het |
| Plin2 |
A |
T |
4: 86,576,832 (GRCm39) |
S298T |
probably benign |
Het |
| Prdm8 |
T |
C |
5: 98,331,202 (GRCm39) |
V18A |
possibly damaging |
Het |
| Rel |
C |
A |
11: 23,707,026 (GRCm39) |
G59* |
probably null |
Het |
| Siglecg |
A |
G |
7: 43,058,481 (GRCm39) |
R123G |
possibly damaging |
Het |
| Slc13a1 |
T |
A |
6: 24,150,792 (GRCm39) |
I49F |
probably benign |
Het |
| Slc39a10 |
T |
A |
1: 46,874,724 (GRCm39) |
T193S |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,303,280 (GRCm39) |
V191E |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,721,443 (GRCm39) |
T1246S |
possibly damaging |
Het |
| Sult2b1 |
A |
C |
7: 45,391,670 (GRCm39) |
S39A |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,460,650 (GRCm39) |
T185A |
probably benign |
Het |
| Tmem67 |
A |
G |
4: 12,053,445 (GRCm39) |
|
probably null |
Het |
| Trim12c |
A |
T |
7: 103,994,341 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,815,406 (GRCm39) |
F1164Y |
probably damaging |
Het |
| Ube2d1 |
C |
T |
10: 71,098,071 (GRCm39) |
D16N |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,757,386 (GRCm39) |
I85F |
probably benign |
Het |
| Vwde |
T |
A |
6: 13,193,122 (GRCm39) |
N406Y |
possibly damaging |
Het |
| Wdr54 |
A |
T |
6: 83,132,050 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
A |
T |
8: 122,330,842 (GRCm39) |
N840K |
probably damaging |
Het |
| Zfp451 |
C |
A |
1: 33,801,260 (GRCm39) |
S1052I |
possibly damaging |
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 |
|
R6954:Fcrl2
|
UTSW |
3 |
87,170,983 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7059:Fcrl2
|
UTSW |
3 |
87,164,647 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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'- TGGTTGCCCCACACTATCTG -3'
(R):5'- CTGGGCTAATCACATTCTCCTG -3'
Sequencing Primer
(F):5'- GCCCTCTTTCAGTTCTGATGTGG -3'
(R):5'- GGCTAATCACATTCTCCTGGCATAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation