Incidental Mutation 'IGL02300:Frs2'
| ID |
290261 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Frs2
|
| Ensembl Gene |
ENSMUSG00000020170 |
| Gene Name |
fibroblast growth factor receptor substrate 2 |
| Synonyms |
Frs2alpha, SNT1, C330018A15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02300
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
116905332-116984439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116913496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 111
(N111K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020381]
|
| AlphaFold |
Q8C180 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020381
AA Change: N111K
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000020381
Gene: ENSMUSG00000020170
AA Change: N111K
| Domain | Start | End | E-Value | Type |
|---|
|
IRS
|
17 |
110 |
2.04e-34 |
SMART |
|
PTBI
|
18 |
110 |
5.71e-35 |
SMART |
|
low complexity region
|
130 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
468 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice exhibit embryonic lethality between E5.75 and E8 and defects in primitive streak formation and anterior-posterior axis formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
T |
C |
13: 19,270,774 (GRCm39) |
F128L |
probably damaging |
Het |
| Ccdc65 |
G |
A |
15: 98,620,991 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,831,958 (GRCm39) |
|
probably benign |
Het |
| Efcab14 |
G |
T |
4: 115,616,093 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
C |
9: 66,383,645 (GRCm39) |
I3703T |
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,927,517 (GRCm39) |
M557K |
probably damaging |
Het |
| Mib1 |
G |
A |
18: 10,741,016 (GRCm39) |
C88Y |
probably damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,244 (GRCm39) |
D113G |
probably damaging |
Het |
| Or8k3b |
T |
C |
2: 86,520,996 (GRCm39) |
I108V |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,763,755 (GRCm39) |
Y4076F |
unknown |
Het |
| Pdcd11 |
T |
C |
19: 47,115,381 (GRCm39) |
F1417L |
probably benign |
Het |
| Raph1 |
G |
A |
1: 60,565,106 (GRCm39) |
T127M |
possibly damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,001,116 (GRCm39) |
G568E |
probably benign |
Het |
| Timeless |
G |
A |
10: 128,080,676 (GRCm39) |
S519N |
probably benign |
Het |
| U2surp |
A |
G |
9: 95,370,823 (GRCm39) |
V373A |
probably damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,199 (GRCm39) |
I732F |
probably damaging |
Het |
| Zfp28 |
T |
C |
7: 6,392,495 (GRCm39) |
S122P |
probably benign |
Het |
|
| Other mutations in Frs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00807:Frs2
|
APN |
10 |
116,910,791 (GRCm39) |
splice site |
probably benign |
|
|
IGL03028:Frs2
|
APN |
10 |
116,909,838 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0001:Frs2
|
UTSW |
10 |
116,910,781 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0513:Frs2
|
UTSW |
10 |
116,910,570 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0708:Frs2
|
UTSW |
10 |
116,909,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0735:Frs2
|
UTSW |
10 |
116,910,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1296:Frs2
|
UTSW |
10 |
116,916,979 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1934:Frs2
|
UTSW |
10 |
116,914,806 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1938:Frs2
|
UTSW |
10 |
116,917,011 (GRCm39) |
start gained |
probably benign |
|
|
R1992:Frs2
|
UTSW |
10 |
116,910,459 (GRCm39) |
missense |
probably benign |
|
|
R2095:Frs2
|
UTSW |
10 |
116,910,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3878:Frs2
|
UTSW |
10 |
116,914,815 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4732:Frs2
|
UTSW |
10 |
116,909,998 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4733:Frs2
|
UTSW |
10 |
116,909,998 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5186:Frs2
|
UTSW |
10 |
116,914,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5326:Frs2
|
UTSW |
10 |
116,913,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5894:Frs2
|
UTSW |
10 |
116,917,011 (GRCm39) |
start gained |
probably benign |
|
|
R6084:Frs2
|
UTSW |
10 |
116,912,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7468:Frs2
|
UTSW |
10 |
116,910,007 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7603:Frs2
|
UTSW |
10 |
116,909,968 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8179:Frs2
|
UTSW |
10 |
116,912,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Frs2
|
UTSW |
10 |
116,910,784 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8721:Frs2
|
UTSW |
10 |
116,909,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9104:Frs2
|
UTSW |
10 |
116,910,070 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1177:Frs2
|
UTSW |
10 |
116,910,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation