Incidental Mutation 'R0699:Fnip2'
ID 218735
Institutional Source Beutler Lab
Gene Symbol Fnip2
Ensembl Gene ENSMUSG00000061175
Gene Name folliculin interacting protein 2
Synonyms D630023B12Rik
MMRRC Submission 038883-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0699 (G1)
Quality Score 30
Status Validated
Chromosome 3
Chromosomal Location 79363281-79475103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79388446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 762 (T762A)
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: T732A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175
AA Change: T732A

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: T762A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175
AA Change: T762A

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 98% (120/123)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,538,508 (GRCm39) probably benign Het
Abcb6 C T 1: 75,148,553 (GRCm39) E89K probably damaging Het
Adam25 C A 8: 41,209,011 (GRCm39) T759K probably benign Het
Adgrf5 G A 17: 43,733,552 (GRCm39) probably null Het
Aimp1 A T 3: 132,380,626 (GRCm39) probably benign Het
Aldh3a2 C T 11: 61,153,148 (GRCm39) V193I probably benign Het
Ank2 C T 3: 126,723,478 (GRCm39) V950I probably benign Het
Aspn A G 13: 49,705,258 (GRCm39) D40G possibly damaging Het
C1rl A G 6: 124,485,595 (GRCm39) D322G probably benign Het
Car5a T C 8: 122,671,555 (GRCm39) probably benign Het
Cfap107 G T 4: 144,146,322 (GRCm39) N110K probably damaging Het
Cfap157 T A 2: 32,669,022 (GRCm39) K360N probably damaging Het
Cilp T A 9: 65,177,608 (GRCm39) F117Y probably damaging Het
Cntnap5c T G 17: 58,349,493 (GRCm39) W269G probably damaging Het
Col6a1 A G 10: 76,552,114 (GRCm39) V459A unknown Het
Commd3 A G 2: 18,679,786 (GRCm39) E165G possibly damaging Het
Cops3 A C 11: 59,717,148 (GRCm39) Y244D probably damaging Het
Cpne5 T A 17: 29,428,667 (GRCm39) K108N probably damaging Het
Cracdl T C 1: 37,651,411 (GRCm39) D1152G possibly damaging Het
Ddx41 A G 13: 55,679,112 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,301,113 (GRCm39) Y157H probably damaging Het
Dpp8 A T 9: 64,962,176 (GRCm39) L405F probably benign Het
Dync2h1 G T 9: 7,103,680 (GRCm39) A365E probably benign Het
Dysf C T 6: 84,167,828 (GRCm39) R1757W probably benign Het
Eif1ad T A 19: 5,418,726 (GRCm39) V93D possibly damaging Het
Eif2ak3 T C 6: 70,869,514 (GRCm39) F734L probably benign Het
F8 T C X: 74,423,230 (GRCm39) probably benign Het
Fbxl14 T C 6: 119,457,715 (GRCm39) Y299H probably benign Het
Fmo1 T C 1: 162,661,341 (GRCm39) N314S probably benign Het
Gfra1 A C 19: 58,258,555 (GRCm39) S271A probably benign Het
Gm9932 T C 5: 100,346,931 (GRCm39) V43A probably damaging Het
Herc6 T C 6: 57,558,092 (GRCm39) L24P probably damaging Het
Hmcn1 T C 1: 150,695,161 (GRCm39) T248A probably damaging Het
Hook1 T A 4: 95,884,077 (GRCm39) probably benign Het
Ifne T C 4: 88,798,014 (GRCm39) S135G probably benign Het
Igkv13-84 G A 6: 68,916,635 (GRCm39) probably benign Het
Itm2b T A 14: 73,602,065 (GRCm39) N211I probably damaging Het
Kcnh5 A T 12: 75,023,305 (GRCm39) C588S possibly damaging Het
Kif13a A T 13: 46,952,689 (GRCm39) W699R possibly damaging Het
Kmt2e T C 5: 23,678,581 (GRCm39) V220A probably benign Het
Macrod2 T C 2: 140,260,836 (GRCm39) probably null Het
Map3k6 A G 4: 132,975,437 (GRCm39) E724G probably damaging Het
Mgam T C 6: 40,619,953 (GRCm39) L14P possibly damaging Het
Morc1 T A 16: 48,412,977 (GRCm39) M706K probably benign Het
Muc2 T C 7: 141,306,037 (GRCm39) V242A probably damaging Het
Mx2 T A 16: 97,345,753 (GRCm39) V57E probably damaging Het
Myh14 C A 7: 44,274,395 (GRCm39) A1339S possibly damaging Het
Myom1 G T 17: 71,374,308 (GRCm39) S595I probably damaging Het
Nav1 T A 1: 135,380,687 (GRCm39) M1471L probably benign Het
Ncapd2 A C 6: 125,146,843 (GRCm39) S1248A probably benign Het
Ncbp1 T C 4: 46,147,528 (GRCm39) V125A probably benign Het
Ncor2 A T 5: 125,106,176 (GRCm39) probably benign Het
Nobox T A 6: 43,284,144 (GRCm39) Q134L probably benign Het
Npc1 T C 18: 12,343,632 (GRCm39) T454A probably benign Het
Ntng1 G T 3: 109,779,611 (GRCm39) T322K probably damaging Het
Olfm5 T C 7: 103,803,326 (GRCm39) E379G probably damaging Het
Oma1 T C 4: 103,210,792 (GRCm39) S433P probably damaging Het
Or1ad6 T C 11: 50,860,645 (GRCm39) S267P probably damaging Het
Or1b1 T C 2: 36,995,074 (GRCm39) D196G possibly damaging Het
Or4c105 A T 2: 88,647,568 (GRCm39) N18Y probably damaging Het
Or4c107 C T 2: 88,788,960 (GRCm39) T50I probably benign Het
Or4c113 C T 2: 88,885,636 (GRCm39) V45M possibly damaging Het
Parp14 G A 16: 35,680,955 (GRCm39) T226M probably damaging Het
Parp8 A T 13: 117,059,120 (GRCm39) H168Q probably benign Het
Pik3cg G A 12: 32,247,341 (GRCm39) probably benign Het
Pla2g3 T C 11: 3,442,000 (GRCm39) F388S probably damaging Het
Plaat3 T A 19: 7,535,366 (GRCm39) probably null Het
Pllp T C 8: 95,422,660 (GRCm39) probably null Het
Ppfibp1 T A 6: 146,927,720 (GRCm39) V778E probably damaging Het
Prkci T C 3: 31,104,422 (GRCm39) V595A possibly damaging Het
Prune2 T A 19: 17,101,319 (GRCm39) D2274E probably damaging Het
Rad51ap2 A T 12: 11,507,601 (GRCm39) T508S probably benign Het
Ranbp3l T C 15: 9,058,850 (GRCm39) probably null Het
Rfc1 A C 5: 65,476,742 (GRCm39) probably null Het
Rin3 G A 12: 102,335,834 (GRCm39) V502I probably damaging Het
Rtn4rl1 A T 11: 75,156,048 (GRCm39) H160L possibly damaging Het
Rtn4rl1 A T 11: 75,156,050 (GRCm39) I161F probably benign Het
Serpinb9b A T 13: 33,217,549 (GRCm39) M116L probably benign Het
Sgo2a C T 1: 58,037,308 (GRCm39) R18* probably null Het
Sh3gl2 T A 4: 85,265,408 (GRCm39) D31E probably benign Het
Slc38a9 T C 13: 112,859,823 (GRCm39) L419S probably damaging Het
Sp8 AGCGGCGGCGGCGGCGG AGCGGCGGCGGCGG 12: 118,812,555 (GRCm39) probably benign Het
Spen G T 4: 141,201,702 (GRCm39) N2308K possibly damaging Het
Stac2 A G 11: 97,933,611 (GRCm39) I156T possibly damaging Het
Stambp A G 6: 83,533,303 (GRCm39) F320S probably damaging Het
Tas2r117 A T 6: 132,780,161 (GRCm39) N100Y probably damaging Het
Tigd3 A T 19: 5,941,974 (GRCm39) S385R probably benign Het
Tmem30c T C 16: 57,097,152 (GRCm39) D136G possibly damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnrc6c A G 11: 117,613,447 (GRCm39) Q535R probably benign Het
Trmt2a T C 16: 18,067,393 (GRCm39) V22A probably benign Het
Tut7 G A 13: 59,929,828 (GRCm39) probably benign Het
Wipf3 A C 6: 54,460,817 (GRCm39) K88N probably damaging Het
Zfp974 T C 7: 27,611,416 (GRCm39) E103G possibly damaging Het
Zscan10 C T 17: 23,827,092 (GRCm39) T135I probably 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
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
R9753:Fnip2 UTSW 3 79,415,411 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- GAGCACTATCCAAGCTCTCGTTCC -3'
(R):5'- TGACCAAGAGGCAACCCAGGATTG -3'

Sequencing Primer
(F):5'- ACATCTGTTTGGAACAGGCTC -3'
(R):5'- GCAACCCAGGATTGTTCTTCAAG -3'
Posted On 2014-08-20