Incidental Mutation 'R7315:Fnip2'
| ID |
567864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnip2
|
| Ensembl Gene |
ENSMUSG00000061175 |
| Gene Name |
folliculin interacting protein 2 |
| Synonyms |
D630023B12Rik |
| MMRRC Submission |
045368-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7315 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
79363281-79475103 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 79413512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076136]
[ENSMUST00000076136]
[ENSMUST00000076136]
[ENSMUST00000133154]
[ENSMUST00000133154]
[ENSMUST00000133154]
|
| AlphaFold |
Q80TD3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000076136
|
| SMART Domains |
Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175
| 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 null
Transcript: ENSMUST00000076136
|
| SMART Domains |
Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175
| 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 null
Transcript: ENSMUST00000076136
|
| SMART Domains |
Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175
| 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 null
Transcript: ENSMUST00000133154
|
| SMART Domains |
Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175
| 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 |
probably null
Transcript: ENSMUST00000133154
|
| SMART Domains |
Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175
| 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 |
probably null
Transcript: ENSMUST00000133154
|
| SMART Domains |
Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175
| 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: 99.5%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
C |
7: 119,893,341 (GRCm39) |
I1264L |
probably benign |
Het |
| Abcg8 |
C |
A |
17: 85,004,142 (GRCm39) |
D484E |
probably damaging |
Het |
| Abhd13 |
T |
A |
8: 10,037,970 (GRCm39) |
L189H |
probably damaging |
Het |
| Acox2 |
T |
C |
14: 8,256,139 (GRCm38) |
D60G |
probably damaging |
Het |
| Acp3 |
A |
G |
9: 104,193,423 (GRCm39) |
|
probably null |
Het |
| Agpat4 |
C |
T |
17: 12,429,185 (GRCm39) |
R146C |
probably damaging |
Het |
| Antxrl |
T |
C |
14: 33,793,504 (GRCm39) |
S411P |
unknown |
Het |
| B4galt5 |
A |
G |
2: 167,143,296 (GRCm39) |
V376A |
probably damaging |
Het |
| Camk1d |
T |
C |
2: 5,344,041 (GRCm39) |
Y198C |
probably damaging |
Het |
| Cd1d1 |
C |
T |
3: 86,905,420 (GRCm39) |
R191H |
possibly damaging |
Het |
| Cd93 |
A |
G |
2: 148,284,461 (GRCm39) |
V295A |
probably damaging |
Het |
| Cdc27 |
G |
A |
11: 104,406,270 (GRCm39) |
T615I |
possibly damaging |
Het |
| Cfap74 |
T |
C |
4: 155,547,476 (GRCm39) |
Y1221H |
unknown |
Het |
| Col24a1 |
G |
A |
3: 145,137,625 (GRCm39) |
S896N |
possibly damaging |
Het |
| Crppa |
A |
G |
12: 36,440,373 (GRCm39) |
T94A |
probably benign |
Het |
| Cst7 |
C |
A |
2: 150,412,503 (GRCm39) |
P22Q |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,061,743 (GRCm39) |
A2781T |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,656,423 (GRCm39) |
A1588T |
probably benign |
Het |
| Dsg2 |
A |
T |
18: 20,712,217 (GRCm39) |
I118F |
probably damaging |
Het |
| Eif1ad2 |
A |
G |
12: 87,786,473 (GRCm39) |
E128G |
unknown |
Het |
| Eme2 |
G |
A |
17: 25,113,840 (GRCm39) |
R62W |
probably damaging |
Het |
| Epha3 |
A |
T |
16: 63,372,972 (GRCm39) |
D910E |
probably benign |
Het |
| Ext1 |
T |
C |
15: 52,936,783 (GRCm39) |
D654G |
probably damaging |
Het |
| Gon4l |
T |
A |
3: 88,802,486 (GRCm39) |
H1032Q |
probably benign |
Het |
| Kitl |
G |
A |
10: 99,851,974 (GRCm39) |
R31H |
unknown |
Het |
| Lcp2 |
G |
A |
11: 34,019,906 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,322,166 (GRCm39) |
H1921R |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,010,051 (GRCm39) |
T400A |
probably benign |
Het |
| Mak16 |
G |
A |
8: 31,654,766 (GRCm39) |
R143* |
probably null |
Het |
| Mettl23 |
A |
G |
11: 116,739,928 (GRCm39) |
I159V |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,005,036 (GRCm39) |
N335D |
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,276,645 (GRCm39) |
C12R |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,387,892 (GRCm39) |
|
probably null |
Het |
| Nav2 |
A |
G |
7: 49,198,037 (GRCm39) |
N33S |
possibly damaging |
Het |
| Ninl |
A |
G |
2: 150,791,970 (GRCm39) |
V851A |
probably benign |
Het |
| Nmt1 |
A |
G |
11: 102,951,009 (GRCm39) |
N367D |
probably benign |
Het |
| Noc2l |
T |
G |
4: 156,325,817 (GRCm39) |
S354R |
probably damaging |
Het |
| Opn1sw |
A |
T |
6: 29,379,362 (GRCm39) |
I214N |
probably damaging |
Het |
| Or12d14-ps1 |
G |
T |
17: 37,673,551 (GRCm39) |
C181F |
probably damaging |
Het |
| Or13e8 |
T |
A |
4: 43,696,961 (GRCm39) |
I71F |
probably damaging |
Het |
| Or14c40 |
T |
C |
7: 86,313,445 (GRCm39) |
S192P |
probably damaging |
Het |
| Or4k52 |
T |
C |
2: 111,611,004 (GRCm39) |
V113A |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,496 (GRCm39) |
F98L |
probably benign |
Het |
| Or7e169 |
G |
T |
9: 19,757,131 (GRCm39) |
S261R |
probably damaging |
Het |
| Or8a1 |
T |
C |
9: 37,641,872 (GRCm39) |
M136V |
probably benign |
Het |
| Or8b9 |
A |
T |
9: 37,766,543 (GRCm39) |
Y143F |
probably benign |
Het |
| Papss2 |
T |
C |
19: 32,616,625 (GRCm39) |
V217A |
possibly damaging |
Het |
| Pes1 |
A |
G |
11: 3,926,085 (GRCm39) |
I291M |
probably benign |
Het |
| Ptprb |
T |
A |
10: 116,198,284 (GRCm39) |
I1660N |
possibly damaging |
Het |
| Rapgef1 |
C |
A |
2: 29,624,504 (GRCm39) |
T1030K |
probably damaging |
Het |
| Rassf8 |
A |
G |
6: 145,761,477 (GRCm39) |
M268V |
probably benign |
Het |
| Rbl2 |
A |
T |
8: 91,802,640 (GRCm39) |
T154S |
probably damaging |
Het |
| Rgs1 |
A |
G |
1: 144,124,637 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
C |
T |
14: 52,358,458 (GRCm39) |
T188I |
not run |
Het |
| Rrp1b |
T |
A |
17: 32,277,545 (GRCm39) |
F608L |
probably benign |
Het |
| Sbp |
C |
T |
17: 24,164,280 (GRCm39) |
A154V |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,168,889 (GRCm39) |
E243K |
probably damaging |
Het |
| Serpinb6b |
A |
T |
13: 33,156,240 (GRCm39) |
D110V |
probably benign |
Het |
| Skic2 |
T |
A |
17: 35,060,145 (GRCm39) |
D875V |
probably benign |
Het |
| Slc2a4 |
G |
C |
11: 69,837,259 (GRCm39) |
T59R |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,247,310 (GRCm39) |
S462P |
probably damaging |
Het |
| Slc66a1 |
G |
A |
4: 139,029,181 (GRCm39) |
T101M |
probably damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Srf |
T |
C |
17: 46,862,720 (GRCm39) |
|
probably null |
Het |
| Steap3 |
A |
G |
1: 120,155,642 (GRCm39) |
V439A |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,698,541 (GRCm39) |
D268N |
probably damaging |
Het |
| Tent5b |
C |
T |
4: 133,214,395 (GRCm39) |
T422I |
probably damaging |
Het |
| Terf2 |
T |
C |
8: 107,807,849 (GRCm39) |
N242S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,071,544 (GRCm39) |
T2364A |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,938,806 (GRCm39) |
H365Q |
possibly damaging |
Het |
| Tnrc6c |
T |
G |
11: 117,614,354 (GRCm39) |
N837K |
probably benign |
Het |
| Trim67 |
T |
A |
8: 125,521,069 (GRCm39) |
S144T |
probably benign |
Het |
| Zc3hav1l |
T |
G |
6: 38,272,082 (GRCm39) |
D229A |
possibly damaging |
Het |
| Zmym4 |
A |
T |
4: 126,776,385 (GRCm39) |
V1184E |
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 |
|
|
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'- CCCTGCTGGAAGAAACTTACTAGC -3'
(R):5'- AGCAGTAGCCCACTTTGAAGTC -3'
Sequencing Primer
(F):5'- GCACAATCATTCTGAGATGATGACCG -3'
(R):5'- GCCCACTTTGAAGTCTAGAAATTAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation