Mutagenetix > Incidental Mutation

Incidental Mutation 'R1965:Fnip2'

218259

Institutional Source

Beutler Lab

Gene Symbol

Fnip2

Ensembl Gene

ENSMUSG00000061175

Gene Name

folliculin interacting protein 2

Synonyms

D630023B12Rik

MMRRC Submission

039978-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79363281-79475103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79400779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 314 (T314I)

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: T284I

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175
AA Change: T284I

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

probably benign
Transcript: ENSMUST00000133154
AA Change: T314I

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175
AA Change: T314I

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	T	G	4: 40,175,730 (GRCm39)	L157R	probably damaging	Het
Acot11	A	T	4: 106,606,550 (GRCm39)	L513Q	probably damaging	Het
Amd1	A	G	10: 40,170,755 (GRCm39)	I52T	probably benign	Het
Ap2b1	T	C	11: 83,237,721 (GRCm39)	I557T	probably benign	Het
Arel1	T	A	12: 84,987,173 (GRCm39)		probably null	Het
Arg1	T	A	10: 24,792,762 (GRCm39)		probably null	Het
Atf1	A	T	15: 100,152,052 (GRCm39)	M135L	probably benign	Het
Atf2	T	C	2: 73,681,242 (GRCm39)	E77G	possibly damaging	Het
Axin1	G	T	17: 26,403,199 (GRCm39)	A394S	probably damaging	Het
Axin1	A	T	17: 26,409,202 (GRCm39)	Q734L	probably damaging	Het
Brd8	G	C	18: 34,735,819 (GRCm39)	A886G	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Celf3	T	C	3: 94,392,634 (GRCm39)	V35A	probably damaging	Het
Cfap299	T	A	5: 98,494,093 (GRCm39)	D32E	probably damaging	Het
Ckap2	T	C	8: 22,665,803 (GRCm39)	T415A	possibly damaging	Het
Crybg3	T	C	16: 59,323,600 (GRCm39)	Y1066C	probably damaging	Het
Csmd3	T	C	15: 47,713,144 (GRCm39)	H1506R	probably benign	Het
Dnah10	A	G	5: 124,852,267 (GRCm39)	D1808G	probably damaging	Het
Dsc3	C	T	18: 20,113,729 (GRCm39)	G398R	probably damaging	Het
Emc2	A	G	15: 43,390,863 (GRCm39)	Q293R	probably damaging	Het
Evc2	A	G	5: 37,520,876 (GRCm39)	N251D	possibly damaging	Het
Fam151a	A	T	4: 106,591,112 (GRCm39)		probably benign	Het
Fbxw16	T	A	9: 109,270,289 (GRCm39)	I151F	probably damaging	Het
Fmnl2	A	G	2: 53,004,880 (GRCm39)	D658G	probably damaging	Het
Foxc2	T	A	8: 121,843,413 (GRCm39)	S20R	probably damaging	Het
Fpr-rs6	C	T	17: 20,402,918 (GRCm39)	G148R	probably damaging	Het
Fsip2	T	C	2: 82,823,124 (GRCm39)	S6286P	possibly damaging	Het
Fyb2	A	T	4: 104,770,846 (GRCm39)	I54F	probably benign	Het
Gbf1	T	C	19: 46,260,003 (GRCm39)	F999L	probably damaging	Het
Gldc	G	A	19: 30,114,513 (GRCm39)	R466*	probably null	Het
Gm12695	T	A	4: 96,651,082 (GRCm39)	S124C	probably benign	Het
Gm4846	A	T	1: 166,314,533 (GRCm39)	I370N	possibly damaging	Het
Gsdmc3	T	C	15: 63,730,296 (GRCm39)	T423A	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kcnmb3	T	C	3: 32,526,492 (GRCm39)	Y233C	probably damaging	Het
Kidins220	A	G	12: 25,044,905 (GRCm39)	D191G	probably damaging	Het
Kmt2a	A	G	9: 44,732,757 (GRCm39)		probably benign	Het
Krt1	T	C	15: 101,757,427 (GRCm39)	D261G	probably benign	Het
Lrba	A	G	3: 86,513,175 (GRCm39)		probably null	Het
Myo1f	C	T	17: 33,817,146 (GRCm39)	R730*	probably null	Het
Ncoa7	C	A	10: 30,530,426 (GRCm39)	E30*	probably null	Het
Neurod4	T	A	10: 130,106,918 (GRCm39)	K119*	probably null	Het
Npy5r	T	C	8: 67,133,929 (GRCm39)	D288G	probably benign	Het
Nr3c2	A	T	8: 77,636,092 (GRCm39)	I398L	probably damaging	Het
Or10a5	T	C	7: 106,635,565 (GRCm39)	S68P	probably damaging	Het
Or12j4	C	A	7: 140,046,574 (GRCm39)	F153L	probably benign	Het
Or4b1	T	C	2: 89,979,748 (GRCm39)	S201G	probably damaging	Het
Or4k35	T	C	2: 111,099,938 (GRCm39)	Y258C	probably damaging	Het
Or51v8	A	T	7: 103,320,103 (GRCm39)	I45N	probably damaging	Het
Or5g25	T	C	2: 85,478,090 (GRCm39)	T192A	possibly damaging	Het
Or5w8	A	G	2: 87,687,759 (GRCm39)	K80R	probably benign	Het
Or9m1b	A	G	2: 87,836,648 (GRCm39)	F149S	probably damaging	Het
P3r3urf	G	A	4: 116,031,376 (GRCm39)	C82Y	probably damaging	Het
Pcf11	A	T	7: 92,310,809 (GRCm39)	M393K	probably benign	Het
Pck2	T	C	14: 55,779,964 (GRCm39)	V71A	probably benign	Het
Pdzd8	G	T	19: 59,288,554 (GRCm39)	L949I	probably benign	Het
Pdzrn4	G	A	15: 92,644,190 (GRCm39)		probably null	Het
Phospho1	A	G	11: 95,721,705 (GRCm39)	N125S	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Ppid	A	T	3: 79,509,606 (GRCm39)	K308*	probably null	Het
Ppp1r1b	A	G	11: 98,246,189 (GRCm39)	E57G	probably damaging	Het
Prtg	T	G	9: 72,755,604 (GRCm39)	S269A	probably benign	Het
Rbbp5	T	A	1: 132,422,035 (GRCm39)	S312T	probably damaging	Het
Rbm11	T	A	16: 75,395,656 (GRCm39)		probably null	Het
Retreg1	A	G	15: 25,970,250 (GRCm39)	T139A	probably damaging	Het
Riok3	T	A	18: 12,270,019 (GRCm39)	H120Q	probably damaging	Het
Rln1	A	T	19: 29,311,995 (GRCm39)	M1K	probably null	Het
Rpp30	C	T	19: 36,066,549 (GRCm39)	S94L	probably damaging	Het
Sccpdh	C	T	1: 179,511,879 (GRCm39)	P117L	probably damaging	Het
Serac1	T	C	17: 6,099,274 (GRCm39)	K506E	possibly damaging	Het
Serping1	G	T	2: 84,596,072 (GRCm39)	T454K	probably damaging	Het
Slc1a2	T	A	2: 102,570,245 (GRCm39)	N174K	probably damaging	Het
Slc2a2	A	G	3: 28,773,634 (GRCm39)	Q313R	probably damaging	Het
Slc46a2	T	A	4: 59,914,249 (GRCm39)	S225C	probably damaging	Het
Smarcc2	G	A	10: 128,310,627 (GRCm39)	E419K	probably damaging	Het
Stkld1	T	A	2: 26,836,744 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,241,162 (GRCm39)	M1704T	probably benign	Het
Tasor	T	G	14: 27,164,511 (GRCm39)	C272W	probably damaging	Het
Tfcp2l1	C	T	1: 118,580,653 (GRCm39)	Q116*	probably null	Het
Timm44	A	G	8: 4,310,603 (GRCm39)	M383T	possibly damaging	Het
Tnpo2	G	A	8: 85,771,946 (GRCm39)		probably null	Het
Tnrc6b	A	G	15: 80,764,640 (GRCm39)	K714R	probably damaging	Het
Wdfy3	A	G	5: 102,099,178 (GRCm39)	L290P	probably damaging	Het
Wdr59	A	G	8: 112,177,709 (GRCm39)	F898L	probably damaging	Het
Zfp120	A	T	2: 149,959,318 (GRCm39)	C335S	probably damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zfp879	A	T	11: 50,724,355 (GRCm39)	C234S	probably damaging	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
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'- CCTTCAGCCTGTTCATGTGAG -3'
(R):5'- CACGTTTAAGCTGCCACTGG -3'

Sequencing Primer
(F):5'- CTGTTCATGTGAGATTCAAACAGGG -3'
(R):5'- ACTGGCTTCCGTCTGAGCTG -3'

Posted On

2014-08-01