Incidental Mutation 'R6933:Fnip2'
ID |
540151 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fnip2
|
Ensembl Gene |
ENSMUSG00000061175 |
Gene Name |
folliculin interacting protein 2 |
Synonyms |
D630023B12Rik |
MMRRC Submission |
045048-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6933 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
79363281-79475103 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 79425418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 59
(M59K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076136]
[ENSMUST00000133154]
|
AlphaFold |
Q80TD3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076136
AA Change: M59K
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000075497 Gene: ENSMUSG00000061175 AA Change: M59K
Domain | Start | End | E-Value | Type |
Pfam:FNIP_N
|
42 |
168 |
4.3e-39 |
PFAM |
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
Pfam:FNIP_M
|
289 |
528 |
5.9e-92 |
PFAM |
low complexity region
|
557 |
571 |
N/A |
INTRINSIC |
low complexity region
|
748 |
755 |
N/A |
INTRINSIC |
Pfam:FNIP_C
|
920 |
1104 |
4.1e-73 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133154
AA Change: M59K
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000115275 Gene: ENSMUSG00000061175 AA Change: M59K
Domain | Start | End | E-Value | Type |
Pfam:FNIP_N
|
42 |
164 |
5.2e-34 |
PFAM |
low complexity region
|
270 |
291 |
N/A |
INTRINSIC |
Pfam:FNIP_M
|
323 |
557 |
3.9e-93 |
PFAM |
low complexity region
|
587 |
601 |
N/A |
INTRINSIC |
low complexity region
|
778 |
785 |
N/A |
INTRINSIC |
Pfam:FNIP_C
|
951 |
1134 |
2.3e-74 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.7%
|
Validation Efficiency |
93% (41/44) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the folliculin-interacting protein family. The encoded protein binds to the tumor suppressor folliculin and to AMP-activated protein kinase (AMPK) and be involved in regulating the O6-methylguanine-induced apoptosis signaling pathway. This protein may also play a role cellular metabolism and nutrient sensing by regulating the AMPK-mechanistic target of rapamycin signaling pathway. A homologous binding partner of this protein, folliculin-interacting protein 1, has similar binding activities and may suggest functional redundancy within this protein family. Both folliculin-interacting proteins have also been shown to bind the molecular chaperone heat shock protein-90 (Hsp90) and they may function as a co-chaperones in the stabilization of tumor suppressor folliculin which is a target of Hsp90 chaperone activity. [provided by RefSeq, Sep 2016] PHENOTYPE: Mice homozygous for a null allele have normal lifespans. Mice with combined loss of this gene and a single null allele of Fnip1 develop kidney cancer. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
G |
T |
10: 69,740,042 (GRCm39) |
K814N |
probably damaging |
Het |
Anks1b |
A |
G |
10: 89,905,352 (GRCm39) |
H231R |
probably damaging |
Het |
Anks6 |
A |
G |
4: 47,049,164 (GRCm39) |
V247A |
probably benign |
Het |
Antxrl |
A |
G |
14: 33,797,728 (GRCm39) |
N568D |
possibly damaging |
Het |
Ccnl1 |
T |
C |
3: 65,855,373 (GRCm39) |
T366A |
probably benign |
Het |
Ccr2 |
T |
G |
9: 123,906,161 (GRCm39) |
L147R |
probably damaging |
Het |
Cdc40 |
A |
G |
10: 40,720,992 (GRCm39) |
V318A |
probably damaging |
Het |
Cfap61 |
T |
A |
2: 145,792,970 (GRCm39) |
|
probably null |
Het |
Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
Clk3 |
A |
T |
9: 57,669,132 (GRCm39) |
Y31N |
probably damaging |
Het |
Cmya5 |
T |
C |
13: 93,231,644 (GRCm39) |
Y1148C |
probably benign |
Het |
Cntnap5b |
T |
C |
1: 100,311,175 (GRCm39) |
V927A |
probably benign |
Het |
Dync1i1 |
A |
C |
6: 5,913,333 (GRCm39) |
T217P |
probably damaging |
Het |
Elovl4 |
A |
G |
9: 83,667,153 (GRCm39) |
V68A |
probably damaging |
Het |
Ep400 |
C |
A |
5: 110,813,728 (GRCm39) |
K2890N |
probably damaging |
Het |
Fam114a2 |
T |
C |
11: 57,374,897 (GRCm39) |
I481V |
probably benign |
Het |
Fam83e |
A |
G |
7: 45,371,818 (GRCm39) |
T72A |
probably benign |
Het |
Lrpprc |
T |
C |
17: 85,030,131 (GRCm39) |
K1089R |
probably benign |
Het |
Mndal |
T |
A |
1: 173,703,249 (GRCm39) |
E52V |
probably damaging |
Het |
Myom1 |
C |
A |
17: 71,359,666 (GRCm39) |
T446K |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,631,031 (GRCm39) |
F2199I |
possibly damaging |
Het |
Nr1h2 |
A |
T |
7: 44,199,437 (GRCm39) |
L438Q |
probably damaging |
Het |
Or52n2c |
A |
G |
7: 104,574,330 (GRCm39) |
C214R |
probably benign |
Het |
Pet117 |
T |
A |
2: 144,211,019 (GRCm39) |
V13E |
possibly damaging |
Het |
Pnpla8 |
A |
G |
12: 44,330,210 (GRCm39) |
E254G |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,627,003 (GRCm39) |
E1485G |
probably damaging |
Het |
Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,700,878 (GRCm39) |
|
probably benign |
Het |
Rapgef2 |
A |
T |
3: 78,993,266 (GRCm39) |
Y889N |
probably damaging |
Het |
Sbf1 |
G |
A |
15: 89,184,572 (GRCm39) |
R1115C |
probably damaging |
Het |
Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
Shank2 |
A |
T |
7: 143,645,515 (GRCm39) |
T366S |
probably benign |
Het |
Slc22a23 |
T |
C |
13: 34,489,163 (GRCm39) |
I241V |
probably benign |
Het |
Sox11 |
G |
T |
12: 27,391,493 (GRCm39) |
S305R |
probably damaging |
Het |
Sox21 |
T |
C |
14: 118,472,725 (GRCm39) |
H108R |
possibly damaging |
Het |
Taok1 |
A |
T |
11: 77,446,479 (GRCm39) |
S417T |
probably benign |
Het |
Tg |
C |
T |
15: 66,636,158 (GRCm39) |
R582C |
possibly damaging |
Het |
Traf3 |
T |
C |
12: 111,221,658 (GRCm39) |
V273A |
possibly damaging |
Het |
Tspyl3 |
T |
C |
2: 153,067,203 (GRCm39) |
T12A |
probably benign |
Het |
Vmn2r86 |
A |
T |
10: 130,282,126 (GRCm39) |
I830N |
probably damaging |
Het |
Vps26b |
A |
T |
9: 26,926,613 (GRCm39) |
F129I |
possibly damaging |
Het |
Washc3 |
A |
G |
10: 88,037,714 (GRCm39) |
N24S |
probably damaging |
Het |
Xirp2 |
C |
A |
2: 67,345,201 (GRCm39) |
Q2481K |
probably benign |
Het |
Zfhx4 |
T |
C |
3: 5,478,047 (GRCm39) |
V3554A |
probably damaging |
Het |
|
Other mutations in Fnip2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00326:Fnip2
|
APN |
3 |
79,388,828 (GRCm39) |
missense |
probably benign |
|
IGL00339:Fnip2
|
APN |
3 |
79,422,462 (GRCm39) |
missense |
probably benign |
0.12 |
IGL00340:Fnip2
|
APN |
3 |
79,425,368 (GRCm39) |
splice site |
probably benign |
|
IGL00434:Fnip2
|
APN |
3 |
79,419,796 (GRCm39) |
splice site |
probably benign |
|
IGL01134:Fnip2
|
APN |
3 |
79,419,810 (GRCm39) |
nonsense |
probably null |
|
IGL02732:Fnip2
|
APN |
3 |
79,373,004 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03327:Fnip2
|
APN |
3 |
79,425,388 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03402:Fnip2
|
APN |
3 |
79,388,583 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0314:Fnip2
|
UTSW |
3 |
79,388,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R0318:Fnip2
|
UTSW |
3 |
79,419,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R0699:Fnip2
|
UTSW |
3 |
79,388,446 (GRCm39) |
missense |
probably benign |
0.00 |
R1188:Fnip2
|
UTSW |
3 |
79,369,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R1290:Fnip2
|
UTSW |
3 |
79,373,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R1406:Fnip2
|
UTSW |
3 |
79,415,398 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1406:Fnip2
|
UTSW |
3 |
79,415,398 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1535:Fnip2
|
UTSW |
3 |
79,389,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R1618:Fnip2
|
UTSW |
3 |
79,415,475 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1661:Fnip2
|
UTSW |
3 |
79,422,456 (GRCm39) |
missense |
probably benign |
|
R1665:Fnip2
|
UTSW |
3 |
79,422,456 (GRCm39) |
missense |
probably benign |
|
R1965:Fnip2
|
UTSW |
3 |
79,400,779 (GRCm39) |
missense |
probably benign |
0.31 |
R1966:Fnip2
|
UTSW |
3 |
79,400,779 (GRCm39) |
missense |
probably benign |
0.31 |
R1976:Fnip2
|
UTSW |
3 |
79,388,238 (GRCm39) |
missense |
probably benign |
0.02 |
R2004:Fnip2
|
UTSW |
3 |
79,419,632 (GRCm39) |
splice site |
probably benign |
|
R2054:Fnip2
|
UTSW |
3 |
79,479,772 (GRCm39) |
unclassified |
probably benign |
|
R2145:Fnip2
|
UTSW |
3 |
79,407,739 (GRCm39) |
missense |
probably damaging |
0.99 |
R2400:Fnip2
|
UTSW |
3 |
79,386,941 (GRCm39) |
missense |
probably benign |
0.03 |
R2679:Fnip2
|
UTSW |
3 |
79,388,233 (GRCm39) |
missense |
probably benign |
0.13 |
R3157:Fnip2
|
UTSW |
3 |
79,474,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R3851:Fnip2
|
UTSW |
3 |
79,369,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R3910:Fnip2
|
UTSW |
3 |
79,386,812 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3911:Fnip2
|
UTSW |
3 |
79,386,812 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3912:Fnip2
|
UTSW |
3 |
79,386,812 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4035:Fnip2
|
UTSW |
3 |
79,386,808 (GRCm39) |
missense |
probably benign |
0.00 |
R4166:Fnip2
|
UTSW |
3 |
79,369,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R4537:Fnip2
|
UTSW |
3 |
79,373,021 (GRCm39) |
missense |
probably damaging |
0.98 |
R4732:Fnip2
|
UTSW |
3 |
79,388,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R4733:Fnip2
|
UTSW |
3 |
79,388,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R4774:Fnip2
|
UTSW |
3 |
79,373,028 (GRCm39) |
nonsense |
probably null |
|
R4923:Fnip2
|
UTSW |
3 |
79,396,701 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5043:Fnip2
|
UTSW |
3 |
79,400,174 (GRCm39) |
nonsense |
probably null |
|
R5160:Fnip2
|
UTSW |
3 |
79,396,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R5162:Fnip2
|
UTSW |
3 |
79,389,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R5196:Fnip2
|
UTSW |
3 |
79,479,845 (GRCm39) |
unclassified |
probably benign |
|
R5283:Fnip2
|
UTSW |
3 |
79,373,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R5364:Fnip2
|
UTSW |
3 |
79,388,475 (GRCm39) |
missense |
probably benign |
0.00 |
R5402:Fnip2
|
UTSW |
3 |
79,388,250 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6340:Fnip2
|
UTSW |
3 |
79,415,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R6459:Fnip2
|
UTSW |
3 |
79,388,941 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6592:Fnip2
|
UTSW |
3 |
79,389,015 (GRCm39) |
missense |
probably benign |
0.26 |
R6616:Fnip2
|
UTSW |
3 |
79,388,189 (GRCm39) |
missense |
probably benign |
0.00 |
R6962:Fnip2
|
UTSW |
3 |
79,396,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R6971:Fnip2
|
UTSW |
3 |
79,388,428 (GRCm39) |
nonsense |
probably null |
|
R7050:Fnip2
|
UTSW |
3 |
79,413,577 (GRCm39) |
missense |
probably damaging |
0.99 |
R7097:Fnip2
|
UTSW |
3 |
79,388,313 (GRCm39) |
missense |
probably benign |
|
R7315:Fnip2
|
UTSW |
3 |
79,413,512 (GRCm39) |
critical splice donor site |
probably null |
|
R7714:Fnip2
|
UTSW |
3 |
79,425,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R7782:Fnip2
|
UTSW |
3 |
79,415,430 (GRCm39) |
missense |
probably benign |
0.00 |
R8381:Fnip2
|
UTSW |
3 |
79,373,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R8479:Fnip2
|
UTSW |
3 |
79,419,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R8485:Fnip2
|
UTSW |
3 |
79,388,844 (GRCm39) |
missense |
probably benign |
0.35 |
R9344:Fnip2
|
UTSW |
3 |
79,407,717 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9753:Fnip2
|
UTSW |
3 |
79,415,411 (GRCm39) |
missense |
probably benign |
0.27 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGGCCTGCCATAATTGCTTG -3'
(R):5'- GGCACAAGAATTGTCAGCATTTG -3'
Sequencing Primer
(F):5'- GCCTGCCATAATTGCTTGTTAAG -3'
(R):5'- TCAGCATTTGTGCAGCCAG -3'
|
Posted On |
2018-11-06 |