Mutagenetix > Incidental Mutation

Incidental Mutation 'R3910:Fnip2'

309328

Institutional Source

Beutler Lab

Gene Symbol

Fnip2

Ensembl Gene

ENSMUSG00000061175

Gene Name

folliculin interacting protein 2

Synonyms

D630023B12Rik

MMRRC Submission

040815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79363281-79475103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79386812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 971 (D971E)

Ref Sequence

ENSEMBL: ENSMUSP00000075497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076136] [ENSMUST00000133154]

AlphaFold

Q80TD3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076136
AA Change: D971E

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175
AA Change: D971E

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

possibly damaging
Transcript: ENSMUST00000133154
AA Change: D1001E

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175
AA Change: D1001E

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

noncoding transcript
Transcript: ENSMUST00000154645

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (36/37)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bod1l	T	C	5: 41,974,441 (GRCm39)	E2291G	probably damaging	Het
Cchcr1	T	C	17: 35,836,233 (GRCm39)	V341A	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Dsg1c	T	C	18: 20,399,253 (GRCm39)	V119A	possibly damaging	Het
Fap	A	G	2: 62,386,448 (GRCm39)	S58P	probably damaging	Het
Flnc	A	T	6: 29,459,426 (GRCm39)	T2509S	probably damaging	Het
Gab2	A	G	7: 96,948,280 (GRCm39)	Y290C	probably damaging	Het
Gm7104	C	T	12: 88,251,364 (GRCm39)		noncoding transcript	Het
Ints10	T	A	8: 69,266,272 (GRCm39)	S478T	probably damaging	Het
Iqca1l	A	T	5: 24,750,440 (GRCm39)		probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt90	G	A	15: 101,471,218 (GRCm39)	R15W	probably damaging	Het
Lgr5	A	G	10: 115,423,368 (GRCm39)	S11P	possibly damaging	Het
Mycn	T	A	12: 12,987,281 (GRCm39)	N372I	probably damaging	Het
Or2ag18	A	T	7: 106,405,072 (GRCm39)	V199D	probably damaging	Het
Or9a2	A	G	6: 41,749,083 (GRCm39)	V50A	probably benign	Het
Paxbp1	T	A	16: 90,839,569 (GRCm39)	E117V	probably damaging	Het
Phc2	T	C	4: 128,637,351 (GRCm39)		probably null	Het
Prr5	T	A	15: 84,587,345 (GRCm39)	V365E	probably benign	Het
Rev3l	A	G	10: 39,696,552 (GRCm39)	I521M	probably damaging	Het
Robo3	A	T	9: 37,330,591 (GRCm39)	Y1002N	probably damaging	Het
Svep1	A	T	4: 58,145,156 (GRCm39)		probably null	Het
Thsd7a	A	G	6: 12,331,548 (GRCm39)	V1342A	probably damaging	Het
Tmtc3	A	C	10: 100,284,888 (GRCm39)	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,119,578 (GRCm39)		probably benign	Het
Trim30a	A	G	7: 104,060,348 (GRCm39)	V476A	probably damaging	Het
Ugt1a8	A	G	1: 88,015,770 (GRCm39)	E61G	possibly damaging	Het
Vmn1r75	A	T	7: 11,614,757 (GRCm39)	N163I	possibly damaging	Het
Vps35l	A	G	7: 118,345,613 (GRCm39)	T49A	possibly damaging	Het
Zfp119a	G	A	17: 56,173,520 (GRCm39)	L108F	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
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'- TGCTTACAGAGTCCCCAGAC -3'
(R):5'- ACCCTGATTTGAACTACAGGAAAAC -3'

Sequencing Primer
(F):5'- AGAGTCCCCAGACCCTTAGTTC -3'
(R):5'- GTACATGCCTGATCTGGT -3'

Posted On

2015-04-17