Mutagenetix > Incidental Mutation

Incidental Mutation 'R7315:Fnip2'

567864

Institutional Source

Beutler Lab

Gene Symbol

Fnip2

Ensembl Gene

ENSMUSG00000061175

Gene Name

folliculin interacting protein 2

Synonyms

D630023B12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79455974-79567796 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 79506205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115275 (fasta)

Gene Model

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

AlphaFold

Q80TD3

Predicted Effect

probably null
Transcript: ENSMUST00000076136

SMART Domains

Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175

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 null
Transcript: ENSMUST00000076136

SMART Domains

Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175

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 null
Transcript: ENSMUST00000076136

SMART Domains

Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175

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 null
Transcript: ENSMUST00000133154

SMART Domains

Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175

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

probably null
Transcript: ENSMUST00000133154

SMART Domains

Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175

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

probably null
Transcript: ENSMUST00000133154

SMART Domains

Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 120,294,118	I1264L	probably benign	Het
Abcg8	C	A	17: 84,696,714	D484E	probably damaging	Het
Abhd13	T	A	8: 9,987,970	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139	D60G	probably damaging	Het
Acpp	A	G	9: 104,316,224		probably null	Het
Agpat4	C	T	17: 12,210,298	R146C	probably damaging	Het
Antxrl	T	C	14: 34,071,547	S411P	unknown	Het
B4galt5	A	G	2: 167,301,376	V376A	probably damaging	Het
BB287469	A	G	12: 87,819,703	E128G	unknown	Het
Camk1d	T	C	2: 5,339,230	Y198C	probably damaging	Het
Cd1d1	C	T	3: 86,998,113	R191H	possibly damaging	Het
Cd93	A	G	2: 148,442,541	V295A	probably damaging	Het
Cdc27	G	A	11: 104,515,444	T615I	possibly damaging	Het
Cfap74	T	C	4: 155,463,019	Y1221H	unknown	Het
Col24a1	G	A	3: 145,431,870	S896N	possibly damaging	Het
Cst7	C	A	2: 150,570,583	P22Q	probably benign	Het
Dnah6	C	T	6: 73,084,760	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,745,125	A1588T	probably benign	Het
Dsg2	A	T	18: 20,579,160	I118F	probably damaging	Het
Eme2	G	A	17: 24,894,866	R62W	probably damaging	Het
Epha3	A	T	16: 63,552,609	D910E	probably benign	Het
Ext1	T	C	15: 53,073,387	D654G	probably damaging	Het
Fam46b	C	T	4: 133,487,084	T422I	probably damaging	Het
Gon4l	T	A	3: 88,895,179	H1032Q	probably benign	Het
Ispd	A	G	12: 36,390,374	T94A	probably benign	Het
Kitl	G	A	10: 100,016,112	R31H	unknown	Het
Lcp2	G	A	11: 34,069,906		probably null	Het
Lrp2	T	C	2: 69,491,822	H1921R	probably damaging	Het
Lvrn	A	G	18: 46,876,984	T400A	probably benign	Het
Mak16	G	A	8: 31,164,738	R143*	probably null	Het
Mettl23	A	G	11: 116,849,102	I159V	probably benign	Het
Mr1	T	C	1: 155,129,290	N335D	probably benign	Het
Muc2	T	C	7: 141,690,402	C12R	probably damaging	Het
Myom1	T	C	17: 71,080,897		probably null	Het
Nav2	A	G	7: 49,548,289	N33S	possibly damaging	Het
Ninl	A	G	2: 150,950,050	V851A	probably benign	Het
Nmt1	A	G	11: 103,060,183	N367D	probably benign	Het
Noc2l	T	G	4: 156,241,360	S354R	probably damaging	Het
Olfr104-ps	G	T	17: 37,362,660	C181F	probably damaging	Het
Olfr1302	T	C	2: 111,780,659	V113A	probably damaging	Het
Olfr151	T	C	9: 37,730,576	M136V	probably benign	Het
Olfr198	A	G	16: 59,202,133	F98L	probably benign	Het
Olfr293	T	C	7: 86,664,237	S192P	probably damaging	Het
Olfr70	T	A	4: 43,696,961	I71F	probably damaging	Het
Olfr860	G	T	9: 19,845,835	S261R	probably damaging	Het
Olfr877	A	T	9: 37,855,247	Y143F	probably benign	Het
Opn1sw	A	T	6: 29,379,363	I214N	probably damaging	Het
Papss2	T	C	19: 32,639,225	V217A	possibly damaging	Het
Pes1	A	G	11: 3,976,085	I291M	probably benign	Het
Pqlc2	G	A	4: 139,301,870	T101M	probably damaging	Het
Ptprb	T	A	10: 116,362,379	I1660N	possibly damaging	Het
Rapgef1	C	A	2: 29,734,492	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,815,751	M268V	probably benign	Het
Rbl2	A	T	8: 91,076,012	T154S	probably damaging	Het
Rgs1	A	G	1: 144,248,899		probably null	Het
Rpgrip1	C	T	14: 52,121,001	T188I	not run	Het
Rrp1b	T	A	17: 32,058,571	F608L	probably benign	Het
Sbp	C	T	17: 23,945,306	A154V	probably benign	Het
Scara3	C	T	14: 65,931,440	E243K	probably damaging	Het
Serpinb6b	A	T	13: 32,972,257	D110V	probably benign	Het
Skiv2l	T	A	17: 34,841,169	D875V	probably benign	Het
Slc2a4	G	C	11: 69,946,433	T59R	probably damaging	Het
Slc4a1	A	G	11: 102,356,484	S462P	probably damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Srf	T	C	17: 46,551,794		probably null	Het
Steap3	A	G	1: 120,227,912	V439A	probably benign	Het
Syt10	C	T	15: 89,814,338	D268N	probably damaging	Het
Terf2	T	C	8: 107,081,217	N242S	probably benign	Het
Tex15	A	G	8: 33,581,516	T2364A	probably benign	Het
Tgfbr2	A	T	9: 116,109,738	H365Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,723,528	N837K	probably benign	Het
Trim67	T	A	8: 124,794,330	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,295,147	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,882,592	V1184E	probably benign	Het

Other mutations in Fnip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Fnip2	APN	3	79481521	missense	probably benign
IGL00339:Fnip2	APN	3	79515155	missense	probably benign	0.12
IGL00340:Fnip2	APN	3	79518061	splice site	probably benign
IGL00434:Fnip2	APN	3	79512489	splice site	probably benign
IGL01134:Fnip2	APN	3	79512503	nonsense	probably null
IGL02732:Fnip2	APN	3	79465697	missense	probably damaging	1.00
IGL03327:Fnip2	APN	3	79518081	missense	probably damaging	0.98
IGL03402:Fnip2	APN	3	79481276	missense	possibly damaging	0.92
R0314:Fnip2	UTSW	3	79481189	missense	probably damaging	1.00
R0318:Fnip2	UTSW	3	79512378	missense	probably damaging	1.00
R0699:Fnip2	UTSW	3	79481139	missense	probably benign	0.00
R1188:Fnip2	UTSW	3	79462162	missense	probably damaging	1.00
R1290:Fnip2	UTSW	3	79465693	missense	probably damaging	1.00
R1406:Fnip2	UTSW	3	79508091	missense	possibly damaging	0.85
R1406:Fnip2	UTSW	3	79508091	missense	possibly damaging	0.85
R1535:Fnip2	UTSW	3	79481765	missense	probably damaging	1.00
R1618:Fnip2	UTSW	3	79508168	missense	possibly damaging	0.70
R1661:Fnip2	UTSW	3	79515149	missense	probably benign
R1665:Fnip2	UTSW	3	79515149	missense	probably benign
R1965:Fnip2	UTSW	3	79493472	missense	probably benign	0.31
R1966:Fnip2	UTSW	3	79493472	missense	probably benign	0.31
R1976:Fnip2	UTSW	3	79480931	missense	probably benign	0.02
R2004:Fnip2	UTSW	3	79512325	splice site	probably benign
R2054:Fnip2	UTSW	3	79572465	unclassified	probably benign
R2145:Fnip2	UTSW	3	79500432	missense	probably damaging	0.99
R2400:Fnip2	UTSW	3	79479634	missense	probably benign	0.03
R2679:Fnip2	UTSW	3	79480926	missense	probably benign	0.13
R3157:Fnip2	UTSW	3	79567594	missense	probably damaging	1.00
R3851:Fnip2	UTSW	3	79462157	missense	probably damaging	1.00
R3910:Fnip2	UTSW	3	79479505	missense	possibly damaging	0.83
R3911:Fnip2	UTSW	3	79479505	missense	possibly damaging	0.83
R3912:Fnip2	UTSW	3	79479505	missense	possibly damaging	0.83
R4035:Fnip2	UTSW	3	79479501	missense	probably benign	0.00
R4166:Fnip2	UTSW	3	79462135	missense	probably damaging	1.00
R4537:Fnip2	UTSW	3	79465714	missense	probably damaging	0.98
R4732:Fnip2	UTSW	3	79481652	missense	probably damaging	1.00
R4733:Fnip2	UTSW	3	79481652	missense	probably damaging	1.00
R4774:Fnip2	UTSW	3	79465721	nonsense	probably null
R4923:Fnip2	UTSW	3	79489394	critical splice acceptor site	probably null
R5043:Fnip2	UTSW	3	79492867	nonsense	probably null
R5160:Fnip2	UTSW	3	79488991	missense	probably damaging	1.00
R5162:Fnip2	UTSW	3	79481777	missense	probably damaging	1.00
R5196:Fnip2	UTSW	3	79572538	unclassified	probably benign
R5283:Fnip2	UTSW	3	79465708	missense	probably damaging	1.00
R5364:Fnip2	UTSW	3	79481168	missense	probably benign	0.00
R5402:Fnip2	UTSW	3	79480943	missense	possibly damaging	0.89
R6340:Fnip2	UTSW	3	79507845	missense	probably damaging	1.00
R6459:Fnip2	UTSW	3	79481634	missense	possibly damaging	0.93
R6592:Fnip2	UTSW	3	79481708	missense	probably benign	0.26
R6616:Fnip2	UTSW	3	79480882	missense	probably benign	0.00
R6933:Fnip2	UTSW	3	79518111	missense	probably benign	0.28
R6962:Fnip2	UTSW	3	79489303	missense	probably damaging	1.00
R6971:Fnip2	UTSW	3	79481121	nonsense	probably null
R7050:Fnip2	UTSW	3	79506270	missense	probably damaging	0.99
R7097:Fnip2	UTSW	3	79481006	missense	probably benign
R7714:Fnip2	UTSW	3	79518114	missense	probably damaging	1.00
R7782:Fnip2	UTSW	3	79508123	missense	probably benign	0.00
R8381:Fnip2	UTSW	3	79465693	missense	probably damaging	1.00
R8479:Fnip2	UTSW	3	79512555	missense	probably damaging	1.00
R8485:Fnip2	UTSW	3	79481537	missense	probably benign	0.35
R9344:Fnip2	UTSW	3	79500410	missense	possibly damaging	0.87
R9753:Fnip2	UTSW	3	79508104	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- CCCTGCTGGAAGAAACTTACTAGC -3'
(R):5'- AGCAGTAGCCCACTTTGAAGTC -3'

Sequencing Primer
(F):5'- GCACAATCATTCTGAGATGATGACCG -3'
(R):5'- GCCCACTTTGAAGTCTAGAAATTAC -3'

Posted On

2019-06-26