Incidental Mutation 'R1112:Fxr2'
| ID |
96859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fxr2
|
| Ensembl Gene |
ENSMUSG00000018765 |
| Gene Name |
FMR1 autosomal homolog 2 |
| Synonyms |
Fxr2h |
| MMRRC Submission |
039185-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.810)
|
| Stock # |
R1112 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69523816-69544123 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69543074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 624
(S624G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018905]
[ENSMUST00000018909]
[ENSMUST00000047373]
[ENSMUST00000148242]
[ENSMUST00000155200]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018905
|
| SMART Domains |
Protein: ENSMUSP00000018905
Gene: ENSMUSG00000018761
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
|
CTNS
|
56 |
87 |
1.69e-6 |
SMART |
|
low complexity region
|
141 |
157 |
N/A |
INTRINSIC |
|
CTNS
|
167 |
198 |
5.56e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018909
AA Change: S624G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018909
Gene: ENSMUSG00000018765
AA Change: S624G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Agenet
|
72 |
130 |
1.3e-10 |
PFAM |
|
KH
|
227 |
294 |
3.06e-3 |
SMART |
|
KH
|
295 |
366 |
4.16e-5 |
SMART |
|
low complexity region
|
368 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
503 |
N/A |
INTRINSIC |
|
Pfam:FXR_C1
|
504 |
579 |
2.5e-36 |
PFAM |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047373
|
| SMART Domains |
Protein: ENSMUSP00000048524
Gene: ENSMUSG00000041287
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
HMG
|
46 |
116 |
6.83e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125389
|
| SMART Domains |
Protein: ENSMUSP00000129025
Gene: ENSMUSG00000018761
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
CTNS
|
39 |
70 |
1.69e-6 |
SMART |
|
low complexity region
|
89 |
104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125586
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127118
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149764
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139605
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129224
|
| SMART Domains |
Protein: ENSMUSP00000120001
Gene: ENSMUSG00000018761
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
CTNS
|
54 |
85 |
1.69e-6 |
SMART |
|
low complexity region
|
138 |
163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148242
|
| SMART Domains |
Protein: ENSMUSP00000133074
Gene: ENSMUSG00000018761
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
|
CTNS
|
56 |
87 |
1.69e-6 |
SMART |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155200
|
| SMART Domains |
Protein: ENSMUSP00000117715
Gene: ENSMUSG00000018761
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
|
CTNS
|
56 |
87 |
1.69e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X mental retardation syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit hyperactivity, impaired Morris water task performance, and reductions in prepulse inhibition, contextual conditioned fear, and sensitivity to heat stimulus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak7 |
A |
G |
12: 105,679,831 (GRCm39) |
N122D |
probably benign |
Het |
| Arb2a |
A |
G |
13: 77,910,005 (GRCm39) |
Y40C |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,841,081 (GRCm39) |
D1161G |
probably benign |
Het |
| Bscl2 |
G |
C |
19: 8,817,098 (GRCm39) |
G9R |
possibly damaging |
Het |
| Clstn2 |
T |
C |
9: 97,340,281 (GRCm39) |
N697S |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,922,026 (GRCm39) |
V884A |
probably damaging |
Het |
| Dusp10 |
A |
T |
1: 183,769,097 (GRCm39) |
Q21L |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,261,856 (GRCm39) |
F171S |
probably benign |
Het |
| Gorasp2 |
C |
A |
2: 70,521,158 (GRCm39) |
P376Q |
probably benign |
Het |
| Gpr33 |
A |
G |
12: 52,070,155 (GRCm39) |
S295P |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hap1 |
C |
T |
11: 100,245,143 (GRCm39) |
V23M |
probably damaging |
Het |
| Hsd3b5 |
C |
T |
3: 98,537,393 (GRCm39) |
R41Q |
probably benign |
Het |
| Kif1c |
T |
G |
11: 70,615,641 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Madd |
A |
G |
2: 90,973,944 (GRCm39) |
C1447R |
probably damaging |
Het |
| Myef2 |
A |
C |
2: 124,939,506 (GRCm39) |
M426R |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,245,576 (GRCm39) |
D1072V |
probably damaging |
Het |
| Or1e34 |
A |
C |
11: 73,779,060 (GRCm39) |
L46R |
probably damaging |
Het |
| Or51a5 |
C |
T |
7: 102,771,611 (GRCm39) |
D123N |
probably damaging |
Het |
| Orc4 |
A |
T |
2: 48,823,584 (GRCm39) |
N90K |
probably damaging |
Het |
| Padi4 |
C |
T |
4: 140,485,427 (GRCm39) |
S246N |
probably benign |
Het |
| Pcdhb22 |
A |
T |
18: 37,652,821 (GRCm39) |
T430S |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,273,837 (GRCm39) |
D473G |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,211,292 (GRCm39) |
Y1575C |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,853,118 (GRCm39) |
Y170C |
probably damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,070,824 (GRCm39) |
I1059L |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,634,811 (GRCm39) |
F118I |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Srpra |
A |
G |
9: 35,126,255 (GRCm39) |
T483A |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 177,994,329 (GRCm39) |
D1198E |
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,939,412 (GRCm39) |
N287D |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,212,627 (GRCm39) |
D905G |
possibly damaging |
Het |
| Zfp692 |
T |
C |
11: 58,202,388 (GRCm39) |
L381P |
probably damaging |
Het |
|
| Other mutations in Fxr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00469:Fxr2
|
APN |
11 |
69,532,965 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL00595:Fxr2
|
APN |
11 |
69,540,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00659:Fxr2
|
APN |
11 |
69,531,076 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00921:Fxr2
|
APN |
11 |
69,543,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01025:Fxr2
|
APN |
11 |
69,534,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01154:Fxr2
|
APN |
11 |
69,532,259 (GRCm39) |
splice site |
probably benign |
|
|
IGL01347:Fxr2
|
APN |
11 |
69,543,114 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01743:Fxr2
|
APN |
11 |
69,543,448 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01981:Fxr2
|
APN |
11 |
69,541,328 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02332:Fxr2
|
APN |
11 |
69,540,664 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02385:Fxr2
|
APN |
11 |
69,543,095 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03172:Fxr2
|
APN |
11 |
69,540,665 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0092:Fxr2
|
UTSW |
11 |
69,532,972 (GRCm39) |
splice site |
probably benign |
|
|
R0720:Fxr2
|
UTSW |
11 |
69,530,241 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1344:Fxr2
|
UTSW |
11 |
69,539,710 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1635:Fxr2
|
UTSW |
11 |
69,532,139 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1864:Fxr2
|
UTSW |
11 |
69,543,103 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1957:Fxr2
|
UTSW |
11 |
69,534,766 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1992:Fxr2
|
UTSW |
11 |
69,540,659 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2243:Fxr2
|
UTSW |
11 |
69,532,896 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2863:Fxr2
|
UTSW |
11 |
69,530,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2865:Fxr2
|
UTSW |
11 |
69,530,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5255:Fxr2
|
UTSW |
11 |
69,534,667 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5726:Fxr2
|
UTSW |
11 |
69,524,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5899:Fxr2
|
UTSW |
11 |
69,543,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6045:Fxr2
|
UTSW |
11 |
69,541,877 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6146:Fxr2
|
UTSW |
11 |
69,532,165 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6149:Fxr2
|
UTSW |
11 |
69,540,030 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6195:Fxr2
|
UTSW |
11 |
69,543,099 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6622:Fxr2
|
UTSW |
11 |
69,532,416 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7381:Fxr2
|
UTSW |
11 |
69,532,875 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7382:Fxr2
|
UTSW |
11 |
69,532,382 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9599:Fxr2
|
UTSW |
11 |
69,543,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCGTGGTAACCGGACTGATGGG -3'
(R):5'- CTGATGAGTACAGCAGATGCAGGC -3'
Sequencing Primer
(F):5'- TCAGTGGAGACCGCCAAC -3'
(R):5'- AGCTTAGCCTGAACTCCATC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation