Incidental Mutation 'R8981:Fcrl2'
| ID |
683716 |
| 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 |
068814-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R8981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87158318-87171046 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87164677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 283
(Y283C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090986]
[ENSMUST00000146512]
|
| AlphaFold |
Q9EQY5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090986
AA Change: Y283C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088508
Gene: ENSMUSG00000015852
AA Change: Y283C
| 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: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
A |
8: 44,103,840 (GRCm39) |
I602L |
probably benign |
Het |
| Adarb2 |
C |
T |
13: 8,751,653 (GRCm39) |
R473C |
probably damaging |
Het |
| Arrdc3 |
A |
G |
13: 81,038,669 (GRCm39) |
I210M |
probably damaging |
Het |
| C1qb |
T |
C |
4: 136,608,033 (GRCm39) |
D110G |
probably benign |
Het |
| Ccdc86 |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
19: 10,926,162 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,919,457 (GRCm39) |
F112L |
probably benign |
Het |
| Cyp2j13 |
T |
A |
4: 95,965,527 (GRCm39) |
D60V |
possibly damaging |
Het |
| Dcun1d5 |
T |
A |
9: 7,189,205 (GRCm39) |
M98K |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,801,796 (GRCm39) |
T1774S |
probably benign |
Het |
| Exosc7 |
T |
C |
9: 122,942,365 (GRCm39) |
V12A |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,880,916 (GRCm39) |
D590G |
possibly damaging |
Het |
| Gne |
T |
C |
4: 44,042,261 (GRCm39) |
N469S |
probably benign |
Het |
| Ipo11 |
A |
T |
13: 107,061,633 (GRCm39) |
V9E |
probably benign |
Het |
| Mad1l1 |
T |
C |
5: 140,300,813 (GRCm39) |
T28A |
probably benign |
Het |
| Mcoln3 |
A |
G |
3: 145,827,554 (GRCm39) |
N3D |
probably benign |
Het |
| Mprip |
A |
G |
11: 59,622,383 (GRCm39) |
K157E |
probably damaging |
Het |
| Mthfr |
A |
T |
4: 148,139,451 (GRCm39) |
I588F |
probably benign |
Het |
| Mup15 |
A |
T |
4: 61,357,825 (GRCm39) |
C15* |
probably null |
Het |
| Myom1 |
A |
G |
17: 71,391,316 (GRCm39) |
T942A |
probably benign |
Het |
| Myorg |
T |
C |
4: 41,498,209 (GRCm39) |
S474G |
possibly damaging |
Het |
| Or10ag55-ps1 |
T |
C |
2: 87,115,561 (GRCm39) |
M309T |
probably benign |
Het |
| Or2d3b |
T |
C |
7: 106,513,590 (GRCm39) |
F62L |
probably benign |
Het |
| Phf11c |
G |
A |
14: 59,628,412 (GRCm39) |
S79L |
possibly damaging |
Het |
| Pogz |
T |
A |
3: 94,786,226 (GRCm39) |
V938D |
probably damaging |
Het |
| Ppip5k1 |
C |
T |
2: 121,158,121 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Resf1 |
G |
A |
6: 149,227,997 (GRCm39) |
V348I |
probably benign |
Het |
| Ric3 |
T |
C |
7: 108,657,043 (GRCm39) |
I100V |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,734,508 (GRCm39) |
S504A |
possibly damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,948,580 (GRCm39) |
T567A |
probably benign |
Het |
| Slfn14 |
A |
T |
11: 83,174,455 (GRCm39) |
F179I |
possibly damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,849,354 (GRCm39) |
H934R |
probably benign |
Het |
| Susd1 |
A |
G |
4: 59,380,883 (GRCm39) |
V326A |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,523,187 (GRCm39) |
W74R |
possibly damaging |
Het |
| Ugt3a1 |
T |
G |
15: 9,312,014 (GRCm39) |
S419A |
probably benign |
Het |
| Vac14 |
A |
G |
8: 111,438,226 (GRCm39) |
E613G |
probably damaging |
Het |
| Vmn1r220 |
C |
A |
13: 23,368,423 (GRCm39) |
R91L |
probably damaging |
Het |
| Vrk1 |
C |
T |
12: 106,036,953 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
|
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'- CAAAAGCCGTGCTGTGTTCAG -3'
(R):5'- TGGAGATCCAGCCTTCAAGAGG -3'
Sequencing Primer
(F):5'- GTGTTCAGACAGCTTCCCAG -3'
(R):5'- AGCCACTGGTCGTTGAAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation