Incidental Mutation 'R6616:Fnip2'
ID 524038
Institutional Source Beutler Lab
Gene Symbol Fnip2
Ensembl Gene ENSMUSG00000061175
Gene Name folliculin interacting protein 2
Synonyms D630023B12Rik
MMRRC Submission 044739-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6616 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 79363281-79475103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 79388189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 847 (H847Q)
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: H817Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175
AA Change: H817Q

DomainStartEndE-ValueType
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: H847Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175
AA Change: H847Q

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (51/51)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A T 17: 24,603,509 (GRCm39) H567L probably damaging Het
Adck1 T A 12: 88,427,958 (GRCm39) M525K unknown Het
Alpi T C 1: 87,028,836 (GRCm39) I74V possibly damaging Het
Ccdc168 C A 1: 44,100,634 (GRCm39) V155L possibly damaging Het
Creb5 A C 6: 53,662,295 (GRCm39) Q197H possibly damaging Het
Cyp2b13 A G 7: 25,785,306 (GRCm39) K225R probably benign Het
Dock1 G A 7: 134,710,221 (GRCm39) E1143K possibly damaging Het
Eef2kmt T A 16: 5,065,346 (GRCm39) D287V probably damaging Het
Eif2ak4 T A 2: 118,285,326 (GRCm39) Y1046* probably null Het
Fbxw10 T A 11: 62,743,850 (GRCm39) M252K probably benign Het
Frmd3 A T 4: 74,105,725 (GRCm39) D457V probably damaging Het
Gm13941 T G 2: 110,931,520 (GRCm39) E37D unknown Het
Grin1 T A 2: 25,182,122 (GRCm39) I870F possibly damaging Het
Grin2b A C 6: 135,709,549 (GRCm39) D1332E probably benign Het
Gtpbp4 G A 13: 9,039,141 (GRCm39) T201I possibly damaging Het
Heatr4 A G 12: 84,026,904 (GRCm39) C118R probably benign Het
Hltf T A 3: 20,163,651 (GRCm39) probably null Het
Hmcn1 C T 1: 150,599,008 (GRCm39) probably null Het
Hpd A T 5: 123,310,123 (GRCm39) L367Q probably damaging Het
Htr1b A G 9: 81,514,487 (GRCm39) I40T probably benign Het
Il16 A G 7: 83,295,684 (GRCm39) S464P probably benign Het
Lrp1b T A 2: 40,589,643 (GRCm39) D75V unknown Het
Map3k4 A T 17: 12,490,231 (GRCm39) L400Q probably damaging Het
Mcts2 T A 2: 152,529,582 (GRCm39) I131N possibly damaging Het
Mroh2b A C 15: 4,982,764 (GRCm39) I1528L probably benign Het
Muc4 A C 16: 32,602,378 (GRCm39) D3467A possibly damaging Het
Mypn A T 10: 63,005,091 (GRCm39) C339S probably damaging Het
Ncoa5 A T 2: 164,852,483 (GRCm39) Y130* probably null Het
Or11g27 T A 14: 50,771,364 (GRCm39) I165N probably benign Het
Or2y11 T A 11: 49,442,868 (GRCm39) V98E probably damaging Het
Pcdha4 A G 18: 37,086,953 (GRCm39) T379A probably benign Het
Pkp4 C G 2: 59,180,896 (GRCm39) Y720* probably null Het
Prl5a1 C T 13: 28,333,839 (GRCm39) T114I probably benign Het
Rnd3 A G 2: 51,024,169 (GRCm39) S137P probably damaging Het
Rtel1 G A 2: 180,994,579 (GRCm39) E680K possibly damaging Het
Sbsn T A 7: 30,452,704 (GRCm39) V573D possibly damaging Het
Scaf8 A T 17: 3,218,330 (GRCm39) L233F unknown Het
Sec23a A T 12: 59,043,941 (GRCm39) I241K possibly damaging Het
Secisbp2l A T 2: 125,610,146 (GRCm39) S258T probably damaging Het
Skint4 A G 4: 111,975,427 (GRCm39) H121R possibly damaging Het
Sptbn1 T A 11: 30,074,030 (GRCm39) E1346D probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stpg4 A G 17: 87,730,124 (GRCm39) Y74H probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tmc4 A G 7: 3,674,057 (GRCm39) V374A possibly damaging Het
Unc45b G A 11: 82,802,645 (GRCm39) R47Q probably damaging Het
Xirp1 A G 9: 119,848,080 (GRCm39) S268P probably damaging Het
Zfp990 A T 4: 145,263,715 (GRCm39) I238L probably benign Het
Zswim5 A G 4: 116,843,938 (GRCm39) D992G possibly damaging Het
Other mutations in Fnip2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGTAGTTGCCCTTACCACTGG -3'
(R):5'- GGACATTTCCATGGGGCTAGTG -3'

Sequencing Primer
(F):5'- TTACCACTGGCATCCCCATAGG -3'
(R):5'- AGCTCTAGCATGGACACTGG -3'
Posted On 2018-06-22