Incidental Mutation 'R9344:Fnip2'
| ID |
707666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnip2
|
| Ensembl Gene |
ENSMUSG00000061175 |
| Gene Name |
folliculin interacting protein 2 |
| Synonyms |
D630023B12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9344 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
79363281-79475103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79407717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 288
(S288F)
|
| 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: S258F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175
AA Change: S258F
| 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 |
possibly damaging
Transcript: ENSMUST00000133154
AA Change: S288F
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175
AA Change: S288F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (57/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,591,135 (GRCm39) |
V31A |
possibly damaging |
Het |
| Adss2 |
A |
G |
1: 177,597,527 (GRCm39) |
Y378H |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,608,150 (GRCm39) |
V324D |
probably damaging |
Het |
| Ankrd33b |
A |
G |
15: 31,297,903 (GRCm39) |
S285P |
probably damaging |
Het |
| Arel1 |
C |
T |
12: 84,981,371 (GRCm39) |
G269S |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 65,053,463 (GRCm39) |
M1T |
probably null |
Het |
| Arpin |
C |
T |
7: 79,577,983 (GRCm39) |
V149I |
probably benign |
Het |
| Arpp21 |
A |
G |
9: 112,014,720 (GRCm39) |
L28P |
possibly damaging |
Het |
| Ccr8 |
G |
A |
9: 119,923,133 (GRCm39) |
V83I |
probably damaging |
Het |
| Cnksr1 |
T |
C |
4: 133,963,508 (GRCm39) |
E58G |
probably damaging |
Het |
| Dctn2 |
T |
A |
10: 127,114,084 (GRCm39) |
H341Q |
probably damaging |
Het |
| Ddx21 |
C |
A |
10: 62,428,825 (GRCm39) |
A362S |
possibly damaging |
Het |
| Dnajc1 |
C |
T |
2: 18,289,586 (GRCm39) |
V274I |
probably benign |
Het |
| Dock3 |
A |
C |
9: 106,870,763 (GRCm39) |
C550W |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,220,676 (GRCm39) |
L2160S |
probably damaging |
Het |
| Duox1 |
T |
A |
2: 122,168,163 (GRCm39) |
M1096K |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,148,659 (GRCm39) |
D928E |
probably benign |
Het |
| E030025P04Rik |
C |
T |
11: 109,030,454 (GRCm39) |
|
probably null |
Het |
| Eid2b |
T |
C |
7: 27,977,591 (GRCm39) |
M129T |
possibly damaging |
Het |
| Grm4 |
G |
T |
17: 27,653,737 (GRCm39) |
R738S |
probably benign |
Het |
| Gsto2 |
A |
G |
19: 47,864,884 (GRCm39) |
D139G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,772,112 (GRCm39) |
V1097E |
probably benign |
Het |
| Impg1 |
G |
A |
9: 80,312,040 (GRCm39) |
A181V |
probably benign |
Het |
| Irs2 |
G |
T |
8: 11,057,289 (GRCm39) |
S381* |
probably null |
Het |
| Itprid1 |
C |
T |
6: 55,955,470 (GRCm39) |
T1026I |
probably benign |
Het |
| Lrrd1 |
A |
C |
5: 3,908,819 (GRCm39) |
D697A |
possibly damaging |
Het |
| Nat10 |
A |
G |
2: 103,573,460 (GRCm39) |
S346P |
probably damaging |
Het |
| Ncapg2 |
G |
A |
12: 116,388,273 (GRCm39) |
R319H |
probably damaging |
Het |
| Nid1 |
A |
G |
13: 13,652,894 (GRCm39) |
Y568C |
probably damaging |
Het |
| Noc2l |
G |
A |
4: 156,325,130 (GRCm39) |
C325Y |
probably damaging |
Het |
| Or12e9 |
A |
T |
2: 87,202,161 (GRCm39) |
D95V |
possibly damaging |
Het |
| Or1e17 |
C |
A |
11: 73,831,744 (GRCm39) |
S224Y |
possibly damaging |
Het |
| Pde2a |
G |
T |
7: 101,144,891 (GRCm39) |
V169F |
possibly damaging |
Het |
| Pon3 |
T |
C |
6: 5,221,586 (GRCm39) |
K348R |
probably benign |
Het |
| Ppp6c |
A |
G |
2: 39,090,052 (GRCm39) |
|
probably null |
Het |
| Prrc2b |
G |
A |
2: 32,103,600 (GRCm39) |
G1026D |
probably benign |
Het |
| Psg22 |
A |
T |
7: 18,460,816 (GRCm39) |
T482S |
possibly damaging |
Het |
| Rdh19 |
G |
A |
10: 127,692,740 (GRCm39) |
V136M |
probably damaging |
Het |
| Sbf2 |
T |
A |
7: 109,940,535 (GRCm39) |
N1275I |
probably benign |
Het |
| Sema4c |
T |
C |
1: 36,592,395 (GRCm39) |
N182D |
probably damaging |
Het |
| Slc7a12 |
T |
A |
3: 14,570,491 (GRCm39) |
H414Q |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,916,702 (GRCm39) |
I109V |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 100,010,793 (GRCm39) |
P2096S |
probably benign |
Het |
| Steap1 |
T |
A |
5: 5,786,459 (GRCm39) |
D326V |
probably damaging |
Het |
| Tacr1 |
C |
T |
6: 82,380,847 (GRCm39) |
T86I |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,545,352 (GRCm39) |
T2493I |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,175,115 (GRCm39) |
S1411P |
possibly damaging |
Het |
| Tom1 |
C |
T |
8: 75,785,076 (GRCm39) |
R303C |
probably damaging |
Het |
| Trav7n-4 |
T |
A |
14: 53,329,200 (GRCm39) |
I70N |
possibly damaging |
Het |
| Utrn |
A |
C |
10: 12,560,275 (GRCm39) |
V1338G |
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,271 (GRCm39) |
H261Q |
probably benign |
Het |
| Vmn1r40 |
G |
T |
6: 89,691,235 (GRCm39) |
L17F |
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,283 (GRCm39) |
V217A |
probably benign |
Het |
| Vmn2r55 |
C |
A |
7: 12,385,782 (GRCm39) |
G733* |
probably null |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,777 (GRCm39) |
N425I |
probably benign |
Het |
| Vps51 |
C |
T |
19: 6,126,345 (GRCm39) |
V136I |
unknown |
Het |
| Zfp184 |
T |
C |
13: 22,144,411 (GRCm39) |
C706R |
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 |
|
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 |
|
R9753:Fnip2
|
UTSW |
3 |
79,415,411 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCTTCTTTCCCTGACAACAG -3'
(R):5'- GCATGAGTTTGTGTCACCTTAC -3'
Sequencing Primer
(F):5'- CTGACAACAGGCAAGGATAAGC -3'
(R):5'- TCTGATTTGGCTAGGAACCCCAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation