Incidental Mutation 'R2679:Fnip2'
ID 250714
Institutional Source Beutler Lab
Gene Symbol Fnip2
Ensembl Gene ENSMUSG00000061175
Gene Name folliculin interacting protein 2
Synonyms D630023B12Rik
MMRRC Submission 040432-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2679 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 79363281-79475103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79388233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 833 (H833Y)
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: H803Y

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175
AA Change: H803Y

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: H833Y

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175
AA Change: H833Y

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 97% (67/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic2 A G 11: 81,042,780 (GRCm39) V171A probably benign Het
Atf7ip A T 6: 136,543,649 (GRCm39) I641L possibly damaging Het
Atrn G A 2: 130,803,595 (GRCm39) probably null Het
Bpifb4 T C 2: 153,790,544 (GRCm39) I145T probably damaging Het
Bub3 A G 7: 131,170,454 (GRCm39) probably null Het
Catsperb T A 12: 101,429,404 (GRCm39) D192E probably damaging Het
Ccdc178 G A 18: 21,944,613 (GRCm39) H849Y possibly damaging Het
Cd101 G T 3: 100,901,079 (GRCm39) Q998K probably benign Het
Cep135 A T 5: 76,772,507 (GRCm39) M631L probably benign Het
Cit T C 5: 116,107,174 (GRCm39) V1102A probably benign Het
Col4a4 G A 1: 82,507,332 (GRCm39) T249M unknown Het
Cpne6 A T 14: 55,753,786 (GRCm39) I415F possibly damaging Het
Cyp4b1 T C 4: 115,485,894 (GRCm39) I348V probably benign Het
Defb28 T C 2: 152,360,202 (GRCm39) S6P possibly damaging Het
Dhrs7b A G 11: 60,743,344 (GRCm39) probably benign Het
Dhx29 T C 13: 113,083,910 (GRCm39) probably null Het
Egfem1 A G 3: 29,724,825 (GRCm39) T476A probably benign Het
Enpp5 A G 17: 44,396,279 (GRCm39) D397G probably damaging Het
Eogt G A 6: 97,097,761 (GRCm39) T279I probably benign Het
Gabrr2 A T 4: 33,071,435 (GRCm39) T92S probably damaging Het
Gm10110 T A 14: 90,134,852 (GRCm39) noncoding transcript Het
Gria2 A G 3: 80,648,260 (GRCm39) probably benign Het
Hmcn1 G T 1: 150,528,326 (GRCm39) T3274N possibly damaging Het
Hnrnpul1 C T 7: 25,426,300 (GRCm39) R517Q probably damaging Het
Hspa1b T C 17: 35,176,279 (GRCm39) K569E probably benign Het
Ighv1-82 T C 12: 115,916,372 (GRCm39) Y46C probably damaging Het
Itga3 A T 11: 94,959,136 (GRCm39) probably benign Het
Lrrc7 T A 3: 157,880,745 (GRCm39) R552* probably null Het
Med13 A G 11: 86,189,403 (GRCm39) S1169P probably benign Het
Muc4 T A 16: 32,577,846 (GRCm39) D2374E unknown Het
Myl9 T A 2: 156,622,426 (GRCm39) L70Q probably damaging Het
Nebl C T 2: 17,429,402 (GRCm39) S243N probably benign Het
Nfat5 A G 8: 108,071,546 (GRCm39) Y314C probably damaging Het
Nr2f6 T A 8: 71,827,380 (GRCm39) D307V probably damaging Het
Nrp2 T C 1: 62,824,237 (GRCm39) S781P probably benign Het
Nub1 C T 5: 24,897,923 (GRCm39) T103I possibly damaging Het
Or4b1d A T 2: 89,968,889 (GRCm39) V198D possibly damaging Het
Or51h5 T A 7: 102,577,238 (GRCm39) Y134* probably null Het
Pex5l A T 3: 33,136,201 (GRCm39) M6K probably benign Het
Pgm3 A C 9: 86,451,374 (GRCm39) C93W probably benign Het
Pkhd1 A G 1: 20,279,406 (GRCm39) S2971P probably benign Het
Pkhd1l1 T C 15: 44,408,782 (GRCm39) L2423P probably damaging Het
Prkce A G 17: 86,483,654 (GRCm39) probably benign Het
Ptbp3 A G 4: 59,494,615 (GRCm39) probably benign Het
Ptgis T A 2: 167,050,113 (GRCm39) M339L probably benign Het
Pxdn T C 12: 30,025,568 (GRCm39) probably benign Het
Rab44 T A 17: 29,363,451 (GRCm39) probably null Het
Ric1 A G 19: 29,581,430 (GRCm39) S1275G probably benign Het
Rnf213 C A 11: 119,350,764 (GRCm39) probably null Het
Rtn4rl1 A T 11: 75,156,552 (GRCm39) E328V probably benign Het
Saraf C T 8: 34,632,428 (GRCm39) T169I probably damaging Het
Sbk2 T A 7: 4,960,119 (GRCm39) probably null Het
Setd1a T G 7: 127,394,896 (GRCm39) probably benign Het
Sit1 A G 4: 43,483,157 (GRCm39) Y73H probably damaging Het
Slc44a4 T C 17: 35,142,399 (GRCm39) probably benign Het
Spopfm1 A T 3: 94,173,217 (GRCm39) Y75F probably damaging Het
Tas2r125 A G 6: 132,887,190 (GRCm39) T193A probably benign Het
Tbc1d9b T A 11: 50,052,528 (GRCm39) probably null Het
Tcf7l1 G T 6: 72,604,403 (GRCm39) H580Q probably benign Het
Tead1 T G 7: 112,456,053 (GRCm39) S115A probably damaging Het
Top2b G A 14: 16,413,947 (GRCm38) G29D probably damaging Het
Trpv4 A T 5: 114,773,613 (GRCm39) C250S probably damaging Het
U2surp A C 9: 95,358,285 (GRCm39) I655S possibly damaging Het
Ube2a G A X: 36,138,360 (GRCm39) probably benign Het
Ubl7 A G 9: 57,821,882 (GRCm39) D77G probably damaging Het
Vmn1r91 T C 7: 19,835,983 (GRCm39) C301R probably damaging Het
Vmn2r90 A T 17: 17,933,131 (GRCm39) R230S possibly damaging Het
Wdfy3 T A 5: 102,017,902 (GRCm39) E2560V probably damaging Het
Zfp273 C T 13: 67,973,895 (GRCm39) A341V probably benign Het
Zfp512 C T 5: 31,622,798 (GRCm39) A33V probably benign 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
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
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'- CATAGGGGACATCTGCAGCAATC -3'
(R):5'- AGTGCCTCTGCCAGCTCTAG -3'
Posted On 2014-12-04