Incidental Mutation 'R7097:Fnip2'
ID |
550542 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fnip2
|
Ensembl Gene |
ENSMUSG00000061175 |
Gene Name |
folliculin interacting protein 2 |
Synonyms |
D630023B12Rik |
MMRRC Submission |
045189-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7097 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
79363281-79475103 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79388313 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 806
(E806G)
|
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: E776G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000075497 Gene: ENSMUSG00000061175 AA Change: E776G
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: E806G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000115275 Gene: ENSMUSG00000061175 AA Change: E806G
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (75/76) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
A |
G |
17: 9,224,052 (GRCm39) |
N435S |
probably damaging |
Het |
Aip |
A |
T |
19: 4,165,381 (GRCm39) |
V195E |
probably benign |
Het |
Amer3 |
A |
T |
1: 34,627,869 (GRCm39) |
I703F |
probably benign |
Het |
Amfr |
T |
C |
8: 94,738,637 (GRCm39) |
E7G |
probably benign |
Het |
Angel1 |
A |
G |
12: 86,773,158 (GRCm39) |
S4P |
probably damaging |
Het |
Atp2c1 |
A |
G |
9: 105,341,850 (GRCm39) |
I146T |
probably damaging |
Het |
Atp6v0e |
A |
G |
17: 26,914,390 (GRCm39) |
T72A |
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,163,472 (GRCm39) |
V590A |
possibly damaging |
Het |
Bcl6 |
A |
G |
16: 23,791,364 (GRCm39) |
V330A |
possibly damaging |
Het |
Bcl6 |
T |
C |
16: 23,791,652 (GRCm39) |
D234G |
probably damaging |
Het |
Btaf1 |
C |
T |
19: 36,926,502 (GRCm39) |
T58I |
probably damaging |
Het |
Ccdc175 |
A |
T |
12: 72,175,183 (GRCm39) |
|
probably null |
Het |
Cdca4 |
C |
A |
12: 112,785,189 (GRCm39) |
V180L |
probably benign |
Het |
Ces1g |
C |
A |
8: 94,043,665 (GRCm39) |
G425C |
possibly damaging |
Het |
Chl1 |
T |
C |
6: 103,683,409 (GRCm39) |
L745P |
probably damaging |
Het |
Clec4g |
T |
A |
8: 3,769,518 (GRCm39) |
T42S |
possibly damaging |
Het |
Ctsg |
A |
C |
14: 56,337,489 (GRCm39) |
I238S |
probably damaging |
Het |
Cyb5rl |
A |
T |
4: 106,944,513 (GRCm39) |
E41V |
unknown |
Het |
Dcdc2a |
A |
G |
13: 25,291,681 (GRCm39) |
E222G |
probably benign |
Het |
Dnaaf1 |
G |
T |
8: 120,323,538 (GRCm39) |
G509V |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,453,410 (GRCm39) |
I4394V |
probably benign |
Het |
Dot1l |
T |
G |
10: 80,626,560 (GRCm39) |
S1260R |
probably damaging |
Het |
Dst |
T |
G |
1: 34,208,341 (GRCm39) |
I1089S |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,899,787 (GRCm39) |
I4350F |
possibly damaging |
Het |
Eps8l3 |
A |
G |
3: 107,791,801 (GRCm39) |
|
probably null |
Het |
Fam135b |
A |
G |
15: 71,493,917 (GRCm39) |
V4A |
possibly damaging |
Het |
Fryl |
T |
A |
5: 73,231,251 (GRCm39) |
I1609F |
probably benign |
Het |
Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
Gsn |
A |
T |
2: 35,185,061 (GRCm39) |
K339* |
probably null |
Het |
Hecw2 |
T |
A |
1: 53,904,283 (GRCm39) |
Y1155F |
possibly damaging |
Het |
Kif20b |
T |
A |
19: 34,951,892 (GRCm39) |
N1723K |
probably damaging |
Het |
Kif2b |
T |
C |
11: 91,467,650 (GRCm39) |
D211G |
probably benign |
Het |
Lhfpl4 |
C |
T |
6: 113,153,632 (GRCm39) |
V140I |
probably benign |
Het |
Med16 |
C |
T |
10: 79,739,177 (GRCm39) |
G203D |
probably damaging |
Het |
Mrgpra3 |
T |
A |
7: 47,239,389 (GRCm39) |
Y179F |
probably benign |
Het |
Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
Myo18b |
A |
G |
5: 113,022,271 (GRCm39) |
S374P |
unknown |
Het |
Myoz1 |
A |
G |
14: 20,699,477 (GRCm39) |
I287T |
possibly damaging |
Het |
Ncoa6 |
T |
C |
2: 155,279,983 (GRCm39) |
D11G |
probably benign |
Het |
Nlrp9c |
A |
G |
7: 26,085,046 (GRCm39) |
Y178H |
probably damaging |
Het |
Nmur1 |
T |
C |
1: 86,315,230 (GRCm39) |
T212A |
probably damaging |
Het |
Oacyl |
A |
G |
18: 65,853,323 (GRCm39) |
D143G |
probably benign |
Het |
Obox5 |
A |
G |
7: 15,492,732 (GRCm39) |
Y229C |
probably damaging |
Het |
Or10d1c |
A |
T |
9: 38,893,914 (GRCm39) |
M142K |
probably benign |
Het |
Or1j12 |
A |
G |
2: 36,342,702 (GRCm39) |
Y35C |
probably damaging |
Het |
Or1j18 |
G |
T |
2: 36,624,436 (GRCm39) |
M34I |
probably benign |
Het |
Or1x2 |
C |
A |
11: 50,918,428 (GRCm39) |
L200I |
probably benign |
Het |
Or8c13 |
A |
T |
9: 38,091,632 (GRCm39) |
C162* |
probably null |
Het |
Pcdhb17 |
A |
C |
18: 37,619,566 (GRCm39) |
N452T |
probably benign |
Het |
Pear1 |
T |
G |
3: 87,658,752 (GRCm39) |
H901P |
probably benign |
Het |
Peds1 |
C |
G |
2: 167,503,398 (GRCm39) |
A7P |
probably benign |
Het |
Pi16 |
A |
G |
17: 29,545,313 (GRCm39) |
Y192C |
probably damaging |
Het |
Pip5k1b |
T |
G |
19: 24,335,424 (GRCm39) |
E362D |
probably damaging |
Het |
Pla2g5 |
T |
C |
4: 138,531,830 (GRCm39) |
D58G |
probably damaging |
Het |
Pole |
T |
A |
5: 110,472,968 (GRCm39) |
|
probably null |
Het |
Prdm16 |
G |
T |
4: 154,429,925 (GRCm39) |
T348K |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,507,207 (GRCm39) |
F896I |
probably damaging |
Het |
Prmt7 |
T |
C |
8: 106,961,732 (GRCm39) |
F215S |
unknown |
Het |
Prss23 |
T |
A |
7: 89,159,392 (GRCm39) |
T226S |
probably damaging |
Het |
Ptpn14 |
G |
A |
1: 189,595,595 (GRCm39) |
W739* |
probably null |
Het |
Rfx5 |
G |
T |
3: 94,863,850 (GRCm39) |
G135C |
probably damaging |
Het |
Scmh1 |
A |
G |
4: 120,382,252 (GRCm39) |
H573R |
probably benign |
Het |
Serpina5 |
G |
T |
12: 104,068,554 (GRCm39) |
|
probably null |
Het |
Sh3rf2 |
G |
A |
18: 42,237,227 (GRCm39) |
|
probably null |
Het |
Slc38a2 |
T |
C |
15: 96,591,182 (GRCm39) |
M229V |
probably damaging |
Het |
Slc6a17 |
C |
G |
3: 107,400,464 (GRCm39) |
G222R |
probably damaging |
Het |
Sp110 |
C |
T |
1: 85,507,406 (GRCm39) |
G367D |
possibly damaging |
Het |
Srcap |
C |
A |
7: 127,138,213 (GRCm39) |
L1128M |
probably damaging |
Het |
Tpra1 |
T |
A |
6: 88,885,276 (GRCm39) |
I76N |
probably damaging |
Het |
Trav6-4 |
A |
T |
14: 53,692,049 (GRCm39) |
Y52F |
probably benign |
Het |
Trp63 |
C |
A |
16: 25,639,227 (GRCm39) |
H138Q |
probably damaging |
Het |
Trub2 |
A |
G |
2: 29,669,838 (GRCm39) |
V177A |
possibly damaging |
Het |
Ugt2a2 |
T |
C |
5: 87,608,255 (GRCm39) |
D528G |
possibly damaging |
Het |
Wnk2 |
C |
A |
13: 49,256,314 (GRCm39) |
R269L |
possibly damaging |
Het |
Zc3h12c |
T |
A |
9: 52,027,226 (GRCm39) |
Q731L |
possibly 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 |
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'- TTGGAACAGGCTCCGATGAAG -3'
(R):5'- TCCACATTGGGAGTTCCATC -3'
Sequencing Primer
(F):5'- CCGATGAAGGTCCTTTGTAGCC -3'
(R):5'- CTCCCCGGAGTCTGACTTTGAAAG -3'
|
Posted On |
2019-05-15 |