Incidental Mutation 'R6217:Fcmr'
| ID |
503759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcmr
|
| Ensembl Gene |
ENSMUSG00000042474 |
| Gene Name |
Fc fragment of IgM receptor |
| Synonyms |
1810037B05Rik, FcmuR, Faim3 |
| MMRRC Submission |
044350-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6217 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
130793514-130808528 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 130806060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 339
(R339W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038829]
[ENSMUST00000121040]
[ENSMUST00000187650]
[ENSMUST00000191279]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038829
AA Change: R339W
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000048303
Gene: ENSMUSG00000042474
AA Change: R339W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:V-set
|
21 |
122 |
1.3e-10 |
PFAM |
|
low complexity region
|
212 |
223 |
N/A |
INTRINSIC |
|
transmembrane domain
|
264 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121040
|
| SMART Domains |
Protein: ENSMUSP00000113064
Gene: ENSMUSG00000026420
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
56 |
N/A |
INTRINSIC |
|
IL10
|
76 |
219 |
1.14e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126821
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149355
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187650
|
| SMART Domains |
Protein: ENSMUSP00000140149
Gene: ENSMUSG00000026420
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IL10
|
37 |
180 |
5.4e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191279
|
| SMART Domains |
Protein: ENSMUSP00000140821
Gene: ENSMUSG00000026420
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
56 |
N/A |
INTRINSIC |
|
Blast:IL10
|
76 |
118 |
2e-21 |
BLAST |
|
SCOP:d2ilk__
|
80 |
119 |
2e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
97% (59/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fc receptors specifically bind to the Fc region of immunoglobulins (Igs) to mediate the unique functions of each Ig class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020) (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).[supplied by OMIM, Jul 2010]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit a slight decrease in B cell numbers reduced sensitivity to Gal-induced liver damage, increased granulocyte production of ROS and increased sensitivity to infection by Listeria monocytogenes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,236,596 (GRCm39) |
D808G |
probably benign |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arsk |
T |
A |
13: 76,239,935 (GRCm39) |
Q46L |
unknown |
Het |
| Asnsd1 |
A |
G |
1: 53,387,187 (GRCm39) |
F147L |
probably benign |
Het |
| Atp5f1a |
T |
A |
18: 77,869,056 (GRCm39) |
S427T |
probably benign |
Het |
| Atp6v1b2 |
A |
C |
8: 69,562,530 (GRCm39) |
|
probably null |
Het |
| AU021092 |
T |
A |
16: 5,030,050 (GRCm39) |
T322S |
possibly damaging |
Het |
| Bcl7c |
A |
T |
7: 127,307,698 (GRCm39) |
M1K |
probably null |
Het |
| Cacna1i |
T |
C |
15: 80,273,333 (GRCm39) |
V1673A |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,522,900 (GRCm39) |
|
probably null |
Het |
| Cdc7 |
A |
G |
5: 107,120,660 (GRCm39) |
D122G |
probably damaging |
Het |
| Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,236,361 (GRCm39) |
Q1950L |
probably damaging |
Het |
| Cutc |
T |
C |
19: 43,748,436 (GRCm39) |
L111S |
probably damaging |
Het |
| Cyp2j6 |
A |
G |
4: 96,406,398 (GRCm39) |
F458L |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,856,971 (GRCm39) |
|
probably null |
Het |
| Dstyk |
T |
C |
1: 132,387,677 (GRCm39) |
S804P |
probably damaging |
Het |
| Ech1 |
A |
G |
7: 28,531,261 (GRCm39) |
D283G |
possibly damaging |
Het |
| Exosc10 |
A |
G |
4: 148,666,768 (GRCm39) |
|
probably null |
Het |
| Fancg |
A |
C |
4: 43,010,084 (GRCm39) |
V5G |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,316,332 (GRCm39) |
V394A |
probably benign |
Het |
| Fhip2b |
T |
C |
14: 70,829,198 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
A |
2: 82,818,762 (GRCm39) |
L4832M |
possibly damaging |
Het |
| Gab1 |
A |
G |
8: 81,518,237 (GRCm39) |
V125A |
possibly damaging |
Het |
| Gabrr1 |
A |
T |
4: 33,149,026 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
C |
3: 88,799,968 (GRCm39) |
V871A |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,267,559 (GRCm39) |
T2056A |
probably damaging |
Het |
| Lrrc3 |
T |
A |
10: 77,736,843 (GRCm39) |
T198S |
probably benign |
Het |
| Lsamp |
A |
T |
16: 41,954,675 (GRCm39) |
E174V |
possibly damaging |
Het |
| Ltbr |
C |
T |
6: 125,284,417 (GRCm39) |
V342M |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,566,742 (GRCm39) |
S1926T |
unknown |
Het |
| Ntn1 |
C |
A |
11: 68,104,158 (GRCm39) |
V497F |
possibly damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,279 (GRCm39) |
L130Q |
probably damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,877 (GRCm39) |
D19G |
probably benign |
Het |
| Or8g22 |
A |
T |
9: 38,958,039 (GRCm39) |
*270R |
probably null |
Het |
| Osmr |
T |
C |
15: 6,853,047 (GRCm39) |
Y615C |
probably damaging |
Het |
| Pcdhgb2 |
T |
C |
18: 37,823,054 (GRCm39) |
V15A |
possibly damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,547,733 (GRCm39) |
N162S |
probably benign |
Het |
| Ppp1r12a |
G |
A |
10: 108,076,045 (GRCm39) |
|
probably null |
Het |
| Prss59 |
G |
A |
6: 40,903,019 (GRCm39) |
P118S |
possibly damaging |
Het |
| Prtg |
C |
T |
9: 72,812,076 (GRCm39) |
P899S |
probably damaging |
Het |
| Ptprn |
A |
T |
1: 75,224,810 (GRCm39) |
S912R |
probably damaging |
Het |
| Rex2 |
A |
G |
4: 147,141,931 (GRCm39) |
T140A |
possibly damaging |
Het |
| Ryr2 |
T |
G |
13: 11,848,964 (GRCm39) |
D339A |
probably damaging |
Het |
| Sf3b1 |
C |
T |
1: 55,046,677 (GRCm39) |
R289H |
probably damaging |
Het |
| Slc17a9 |
A |
G |
2: 180,379,455 (GRCm39) |
D309G |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,134,295 (GRCm39) |
R1004G |
probably benign |
Het |
| Sprr2f |
A |
T |
3: 92,273,366 (GRCm39) |
Q55L |
unknown |
Het |
| Syne1 |
C |
T |
10: 5,243,761 (GRCm39) |
G2801D |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,746,700 (GRCm39) |
V1026D |
probably damaging |
Het |
| Ticam1 |
A |
T |
17: 56,577,730 (GRCm39) |
I455N |
probably damaging |
Het |
| Tmem161b |
A |
G |
13: 84,399,363 (GRCm39) |
I6M |
possibly damaging |
Het |
| Ubn1 |
A |
G |
16: 4,895,096 (GRCm39) |
E714G |
probably damaging |
Het |
| Ush2a |
T |
G |
1: 188,475,651 (GRCm39) |
|
probably null |
Het |
| Usp19 |
G |
A |
9: 108,377,343 (GRCm39) |
V874M |
probably damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,501 (GRCm39) |
T633A |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,815,375 (GRCm39) |
|
probably benign |
Het |
| Zfyve27 |
T |
C |
19: 42,178,016 (GRCm39) |
V386A |
probably damaging |
Het |
| Zscan20 |
A |
T |
4: 128,498,327 (GRCm39) |
W24R |
probably damaging |
Het |
|
| Other mutations in Fcmr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01638:Fcmr
|
APN |
1 |
130,802,859 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01652:Fcmr
|
APN |
1 |
130,806,244 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02106:Fcmr
|
APN |
1 |
130,802,872 (GRCm39) |
missense |
probably benign |
|
|
IGL03270:Fcmr
|
APN |
1 |
130,803,779 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1635:Fcmr
|
UTSW |
1 |
130,803,922 (GRCm39) |
splice site |
probably null |
|
|
R1651:Fcmr
|
UTSW |
1 |
130,805,988 (GRCm39) |
missense |
probably benign |
|
|
R1728:Fcmr
|
UTSW |
1 |
130,806,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1728:Fcmr
|
UTSW |
1 |
130,803,711 (GRCm39) |
missense |
probably benign |
|
|
R1729:Fcmr
|
UTSW |
1 |
130,806,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Fcmr
|
UTSW |
1 |
130,803,711 (GRCm39) |
missense |
probably benign |
|
|
R1730:Fcmr
|
UTSW |
1 |
130,806,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1730:Fcmr
|
UTSW |
1 |
130,803,711 (GRCm39) |
missense |
probably benign |
|
|
R1739:Fcmr
|
UTSW |
1 |
130,806,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Fcmr
|
UTSW |
1 |
130,803,711 (GRCm39) |
missense |
probably benign |
|
|
R1762:Fcmr
|
UTSW |
1 |
130,806,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Fcmr
|
UTSW |
1 |
130,803,711 (GRCm39) |
missense |
probably benign |
|
|
R1783:Fcmr
|
UTSW |
1 |
130,806,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Fcmr
|
UTSW |
1 |
130,803,711 (GRCm39) |
missense |
probably benign |
|
|
R1784:Fcmr
|
UTSW |
1 |
130,806,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1784:Fcmr
|
UTSW |
1 |
130,803,711 (GRCm39) |
missense |
probably benign |
|
|
R1785:Fcmr
|
UTSW |
1 |
130,806,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Fcmr
|
UTSW |
1 |
130,803,711 (GRCm39) |
missense |
probably benign |
|
|
R2037:Fcmr
|
UTSW |
1 |
130,806,070 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6111:Fcmr
|
UTSW |
1 |
130,805,566 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6538:Fcmr
|
UTSW |
1 |
130,802,762 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6712:Fcmr
|
UTSW |
1 |
130,805,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6965:Fcmr
|
UTSW |
1 |
130,803,724 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7765:Fcmr
|
UTSW |
1 |
130,802,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8770:Fcmr
|
UTSW |
1 |
130,803,799 (GRCm39) |
missense |
probably benign |
|
|
R9343:Fcmr
|
UTSW |
1 |
130,802,072 (GRCm39) |
missense |
|
|
|
R9468:Fcmr
|
UTSW |
1 |
130,801,951 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
X0025:Fcmr
|
UTSW |
1 |
130,802,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGTGTCTGATGCCATG -3'
(R):5'- CGAGGGCTTCAATTTAGGGAC -3'
Sequencing Primer
(F):5'- GTGTCTGATGCCATGCCCTTC -3'
(R):5'- AGGGCTTCAATTTAGGGACTGGATAC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation