Incidental Mutation 'R1188:Fnip2'
ID 102339
Institutional Source Beutler Lab
Gene Symbol Fnip2
Ensembl Gene ENSMUSG00000061175
Gene Name folliculin interacting protein 2
Synonyms D630023B12Rik
MMRRC Submission 039260-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1188 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 79363281-79475103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79369469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 1072 (R1072H)
Ref Sequence ENSEMBL: ENSMUSP00000075497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076136] [ENSMUST00000133154] [ENSMUST00000164216]
AlphaFold Q80TD3
Predicted Effect probably damaging
Transcript: ENSMUST00000076136
AA Change: R1072H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175
AA Change: R1072H

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 possibly damaging
Transcript: ENSMUST00000133154
AA Change: R1102H

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175
AA Change: R1102H

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: ENSMUST00000149475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154645
Predicted Effect probably benign
Transcript: ENSMUST00000164216
SMART Domains Protein: ENSMUSP00000130702
Gene: ENSMUSG00000091685

DomainStartEndE-ValueType
Pfam:DUF4562 18 132 1.1e-59 PFAM
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.6%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik T C 5: 66,147,741 (GRCm39) Y14C unknown Het
Afap1l2 T C 19: 56,913,501 (GRCm39) K312E probably damaging Het
Amigo2 T A 15: 97,143,594 (GRCm39) E276V probably benign Het
Atf2 A G 2: 73,675,881 (GRCm39) F114L probably damaging Het
Avpr1a G T 10: 122,284,824 (GRCm39) G39C possibly damaging Het
Ccpg1 A G 9: 72,919,788 (GRCm39) R468G possibly damaging Het
Celf6 G T 9: 59,497,961 (GRCm39) R130L probably benign Het
Dsp T C 13: 38,378,939 (GRCm39) S1296P probably damaging Het
Fsip2 G T 2: 82,805,361 (GRCm39) C560F possibly damaging Het
Get3 A G 8: 85,746,422 (GRCm39) I142T probably damaging Het
Gpr20 A C 15: 73,567,617 (GRCm39) H257Q probably damaging Het
Gys2 T A 6: 142,400,909 (GRCm39) H297L probably damaging Het
Habp2 G A 19: 56,300,154 (GRCm39) S201N probably benign Het
Hars2 T C 18: 36,921,022 (GRCm39) I198T probably damaging Het
Jag2 G A 12: 112,883,741 (GRCm39) Q247* probably null Het
Jam2 A G 16: 84,603,755 (GRCm39) T81A probably damaging Het
Mrps26 G A 2: 130,406,301 (GRCm39) E145K probably damaging Het
Nup210l T C 3: 90,105,486 (GRCm39) F1545L probably benign Het
Or10d4c A G 9: 39,558,772 (GRCm39) Y250C probably damaging Het
Pikfyve T A 1: 65,286,118 (GRCm39) V1074D possibly damaging Het
Prkag1 T A 15: 98,712,479 (GRCm39) I118F probably damaging Het
R3hdm2 G A 10: 127,288,624 (GRCm39) V91I probably benign Het
Rnf168 T C 16: 32,117,477 (GRCm39) V346A probably benign Het
Slc17a7 T C 7: 44,819,311 (GRCm39) V129A possibly damaging Het
Snai3 T A 8: 123,181,701 (GRCm39) Q252L probably damaging Het
Snx17 T C 5: 31,353,166 (GRCm39) V133A probably benign Het
Stt3a A G 9: 36,662,636 (GRCm39) S59P probably damaging Het
Sun1 C T 5: 139,224,611 (GRCm39) R546C probably damaging Het
Thsd4 T A 9: 60,301,689 (GRCm39) Q202L probably benign Het
Tnrc6b A G 15: 80,763,430 (GRCm39) T311A probably benign Het
Tshr T A 12: 91,468,942 (GRCm39) D18E probably benign Het
Ttn A T 2: 76,619,773 (GRCm39) L15965Q probably damaging Het
Wnk1 C A 6: 119,925,670 (GRCm39) E1265* probably null Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E 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
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'- TGAGACAAGCTGCCACTACTCCTC -3'
(R):5'- GGTGCTCAAGAGACTGACATTCACG -3'

Sequencing Primer
(F):5'- TTGCAACTCACTGGGGAATG -3'
(R):5'- CTGACATTCACGATGGTATTGACC -3'
Posted On 2014-01-15