Incidental Mutation 'R5162:Fnip2'
| ID |
397038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnip2
|
| Ensembl Gene |
ENSMUSG00000061175 |
| Gene Name |
folliculin interacting protein 2 |
| Synonyms |
D630023B12Rik |
| MMRRC Submission |
042744-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5162 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
79363281-79475103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79389084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 549
(Y549C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076136]
[ENSMUST00000133154]
|
| AlphaFold |
Q80TD3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076136
AA Change: Y519C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175
AA Change: Y519C
| 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 damaging
Transcript: ENSMUST00000133154
AA Change: Y549C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175
AA Change: Y549C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154645
|
| Meta Mutation Damage Score |
0.8629 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (61/62) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,056,301 (GRCm39) |
T229S |
probably benign |
Het |
| Adrb3 |
T |
C |
8: 27,717,348 (GRCm39) |
E367G |
probably benign |
Het |
| Ak9 |
T |
A |
10: 41,233,653 (GRCm39) |
N630K |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,694,733 (GRCm39) |
I516M |
possibly damaging |
Het |
| Bcor |
C |
T |
X: 11,906,725 (GRCm39) |
R1551Q |
probably damaging |
Het |
| Cry1 |
T |
A |
10: 84,969,150 (GRCm39) |
H558L |
probably benign |
Het |
| Cstdc3 |
A |
T |
16: 36,132,918 (GRCm39) |
H65L |
probably damaging |
Het |
| Cyp3a57 |
T |
A |
5: 145,305,893 (GRCm39) |
W126R |
probably damaging |
Het |
| Dhx36 |
A |
T |
3: 62,401,201 (GRCm39) |
V355E |
probably damaging |
Het |
| Dpp6 |
A |
G |
5: 27,604,013 (GRCm39) |
|
probably benign |
Het |
| Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,710,692 (GRCm39) |
D694G |
probably benign |
Het |
| Esrp2 |
T |
C |
8: 106,859,930 (GRCm39) |
E336G |
probably damaging |
Het |
| Faah |
A |
T |
4: 115,857,938 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,478,846 (GRCm39) |
G2608R |
probably benign |
Het |
| Fbxo8 |
A |
T |
8: 57,022,354 (GRCm39) |
Y122F |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 92,051,215 (GRCm39) |
D1497G |
probably damaging |
Het |
| Fn3krp |
T |
C |
11: 121,320,410 (GRCm39) |
F252L |
probably damaging |
Het |
| Gcm2 |
T |
C |
13: 41,257,131 (GRCm39) |
N206S |
probably benign |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| H2-T10 |
T |
A |
17: 36,429,843 (GRCm39) |
|
probably null |
Het |
| Henmt1 |
T |
C |
3: 108,847,366 (GRCm39) |
|
probably null |
Het |
| Man1b1 |
T |
A |
2: 25,233,365 (GRCm39) |
L246Q |
probably damaging |
Het |
| Mdh2 |
T |
C |
5: 135,812,329 (GRCm39) |
|
probably null |
Het |
| Mocos |
T |
C |
18: 24,787,109 (GRCm39) |
F43L |
probably damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,359,914 (GRCm39) |
I441F |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nars2 |
T |
C |
7: 96,709,027 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
A |
T |
1: 13,245,396 (GRCm39) |
M434K |
possibly damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,350,394 (GRCm38) |
|
noncoding transcript |
Het |
| Or14j8 |
T |
A |
17: 38,263,255 (GRCm39) |
Q220L |
probably benign |
Het |
| Or9a2 |
G |
T |
6: 41,748,706 (GRCm39) |
H176N |
possibly damaging |
Het |
| Pals2 |
T |
A |
6: 50,155,495 (GRCm39) |
W259R |
probably damaging |
Het |
| Pars2 |
A |
G |
4: 106,511,735 (GRCm39) |
T506A |
probably benign |
Het |
| Pkp2 |
T |
C |
16: 16,078,200 (GRCm39) |
S481P |
probably damaging |
Het |
| Plod3 |
T |
C |
5: 137,020,161 (GRCm39) |
W459R |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,121,482 (GRCm39) |
L181M |
probably damaging |
Het |
| Prdm10 |
A |
T |
9: 31,251,714 (GRCm39) |
I361F |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Raver2 |
T |
C |
4: 100,959,921 (GRCm39) |
C134R |
probably damaging |
Het |
| Rnf130 |
G |
C |
11: 49,943,722 (GRCm39) |
A123P |
probably damaging |
Het |
| Slc29a4 |
G |
A |
5: 142,707,207 (GRCm39) |
A517T |
possibly damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,376,759 (GRCm39) |
S138T |
possibly damaging |
Het |
| Spred1 |
T |
C |
2: 117,008,102 (GRCm39) |
V336A |
possibly damaging |
Het |
| Sptlc3 |
T |
A |
2: 139,473,263 (GRCm39) |
M504K |
probably benign |
Het |
| Syt11 |
T |
C |
3: 88,655,149 (GRCm39) |
D78G |
probably damaging |
Het |
| Trim23 |
C |
T |
13: 104,317,682 (GRCm39) |
T61I |
probably damaging |
Het |
| Tsg101 |
T |
C |
7: 46,542,174 (GRCm39) |
T260A |
probably damaging |
Het |
| Tyw5 |
T |
C |
1: 57,440,618 (GRCm39) |
Y48C |
probably damaging |
Het |
| Utp25 |
G |
T |
1: 192,796,089 (GRCm39) |
T192K |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
| Vmn2r89 |
C |
A |
14: 51,693,620 (GRCm39) |
H323Q |
possibly damaging |
Het |
| Vps18 |
A |
G |
2: 119,123,423 (GRCm39) |
S117G |
probably benign |
Het |
| Zfp93 |
C |
G |
7: 23,975,757 (GRCm39) |
Q581E |
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 |
|
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 |
|
R6933:Fnip2
|
UTSW |
3 |
79,425,418 (GRCm39) |
missense |
probably benign |
0.28 |
|
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'- CAGCTACTACTGTAGGCTCAGG -3'
(R):5'- AAGGGCAGACATATCCATGC -3'
Sequencing Primer
(F):5'- TACTACTGTAGGCTCAGGGCTCC -3'
(R):5'- TATCCATGCATGCTAATACCAGAGGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation