Incidental Mutation 'R9753:Fnip2'
| ID |
732618 |
| 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 # |
R9753 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
79363281-79475103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79415411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 209
(R209H)
|
| 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: R209H
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175
AA Change: R209H
| 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: R209H
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175
AA Change: R209H
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
G |
A |
10: 41,259,496 (GRCm39) |
V843I |
|
Het |
| Bbs12 |
T |
C |
3: 37,373,680 (GRCm39) |
C43R |
possibly damaging |
Het |
| Brwd1 |
T |
C |
16: 95,825,028 (GRCm39) |
E1145G |
probably damaging |
Het |
| C2cd4c |
A |
C |
10: 79,448,067 (GRCm39) |
I360S |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,417,539 (GRCm39) |
N599S |
probably damaging |
Het |
| Cd79b |
A |
G |
11: 106,203,457 (GRCm39) |
|
probably null |
Het |
| Ces2c |
A |
G |
8: 105,580,249 (GRCm39) |
M489V |
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,106,068 (GRCm39) |
N84D |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,191,320 (GRCm39) |
D1047G |
possibly damaging |
Het |
| Cyp2c69 |
C |
T |
19: 39,865,991 (GRCm39) |
V201M |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,223,673 (GRCm39) |
S1154P |
possibly damaging |
Het |
| Elk4 |
T |
G |
1: 131,945,881 (GRCm39) |
V253G |
probably benign |
Het |
| Erbb4 |
T |
A |
1: 68,238,062 (GRCm39) |
H809L |
probably benign |
Het |
| Ext1 |
A |
T |
15: 53,208,067 (GRCm39) |
D231E |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,665,574 (GRCm39) |
K295E |
probably benign |
Het |
| Fbrsl1 |
A |
G |
5: 110,526,835 (GRCm39) |
F2L |
unknown |
Het |
| Gart |
C |
T |
16: 91,430,949 (GRCm39) |
G371D |
probably damaging |
Het |
| Gata6 |
T |
A |
18: 11,064,706 (GRCm39) |
V506D |
possibly damaging |
Het |
| Gba2 |
T |
C |
4: 43,568,716 (GRCm39) |
Y620C |
probably damaging |
Het |
| Gprc6a |
T |
C |
10: 51,504,364 (GRCm39) |
N160S |
probably benign |
Het |
| Gstm3 |
A |
G |
3: 107,875,493 (GRCm39) |
W46R |
probably damaging |
Het |
| Hcn4 |
G |
A |
9: 58,751,319 (GRCm39) |
R315H |
unknown |
Het |
| Hydin |
T |
C |
8: 111,217,398 (GRCm39) |
F1429L |
possibly damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Itgb1bp1 |
A |
G |
12: 21,326,890 (GRCm39) |
S28P |
unknown |
Het |
| Krt10 |
A |
G |
11: 99,279,792 (GRCm39) |
F123L |
unknown |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Lingo4 |
C |
T |
3: 94,309,493 (GRCm39) |
R144* |
probably null |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Nrsn1 |
C |
A |
13: 25,437,563 (GRCm39) |
V122L |
probably benign |
Het |
| Or10h5 |
C |
A |
17: 33,434,688 (GRCm39) |
G210V |
possibly damaging |
Het |
| Or2r2 |
T |
C |
6: 42,463,507 (GRCm39) |
M207V |
probably benign |
Het |
| Or4d6 |
T |
A |
19: 12,086,056 (GRCm39) |
M59L |
probably benign |
Het |
| Pcgf6 |
T |
C |
19: 47,023,073 (GRCm39) |
T353A |
probably damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,635,150 (GRCm39) |
Y342H |
probably damaging |
Het |
| Pou2af1 |
A |
T |
9: 51,149,636 (GRCm39) |
N243Y |
possibly damaging |
Het |
| Prkcz |
T |
C |
4: 155,377,659 (GRCm39) |
D197G |
probably benign |
Het |
| Sec14l4 |
G |
A |
11: 3,989,982 (GRCm39) |
E94K |
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,807,139 (GRCm39) |
E757G |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,463,763 (GRCm39) |
S1154T |
possibly damaging |
Het |
| Speer1k |
A |
T |
5: 10,999,020 (GRCm39) |
T53S |
|
Het |
| Ssb |
T |
C |
2: 69,697,865 (GRCm39) |
Y175H |
probably damaging |
Het |
| St6galnac6 |
T |
C |
2: 32,502,261 (GRCm39) |
I50T |
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tmcc1 |
G |
C |
6: 115,999,071 (GRCm39) |
R323G |
possibly damaging |
Het |
| Unc13b |
C |
T |
4: 43,182,842 (GRCm39) |
R396* |
probably null |
Het |
| Vezt |
A |
G |
10: 93,806,183 (GRCm39) |
S743P |
probably benign |
Het |
| Vmn1r77 |
A |
C |
7: 11,775,659 (GRCm39) |
N145T |
probably damaging |
Het |
| Vmn2r98 |
A |
C |
17: 19,285,665 (GRCm39) |
T162P |
probably benign |
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 |
|
R9344:Fnip2
|
UTSW |
3 |
79,407,717 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAACCCCTGCAGCAGTTTG -3'
(R):5'- GATTGCTGTCTTCCAAAACAGC -3'
Sequencing Primer
(F):5'- CTGCAGCAGACCTAGAGCAG -3'
(R):5'- TAACCAAGATCCTCAGGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation