Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00326:Fnip2'

6867

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fnip2

Ensembl Gene

ENSMUSG00000061175

Gene Name

folliculin interacting protein 2

Synonyms

D630023B12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00326

Quality Score

Status

Chromosome

Chromosomal Location

79363281-79475103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79388828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 634 (S634R)

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: S604R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075497
Gene: ENSMUSG00000061175
AA Change: S604R

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: S634R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115275
Gene: ENSMUSG00000061175
AA Change: S634R

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	G	T	4: 62,461,981 (GRCm39)		probably null	Het
9230109A22Rik	G	T	15: 25,139,201 (GRCm39)		noncoding transcript	Het
Acd	A	T	8: 106,425,086 (GRCm39)	Y378N	probably damaging	Het
Adcy9	A	G	16: 4,112,560 (GRCm39)	V709A	probably benign	Het
Axl	A	T	7: 25,485,324 (GRCm39)	L168H	probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Drd3	G	A	16: 43,582,684 (GRCm39)	R59H	probably benign	Het
Erlec1	T	C	11: 30,898,510 (GRCm39)	N180S	possibly damaging	Het
Focad	A	T	4: 88,275,711 (GRCm39)	T1107S	unknown	Het
Galnt11	T	C	5: 25,453,829 (GRCm39)		probably benign	Het
Gigyf1	C	T	5: 137,517,210 (GRCm39)		probably benign	Het
Gpat2	A	G	2: 127,274,316 (GRCm39)	T353A	probably benign	Het
H2bc3	G	T	13: 23,931,111 (GRCm39)	V112L	possibly damaging	Het
Hip1	A	G	5: 135,478,676 (GRCm39)	F178L	probably damaging	Het
Igkv6-13	A	T	6: 70,434,645 (GRCm39)	S67T	probably damaging	Het
Iqch	T	C	9: 63,387,936 (GRCm39)	T824A	probably damaging	Het
Kansl1	A	G	11: 104,315,292 (GRCm39)	S249P	probably damaging	Het
Large1	C	T	8: 73,858,611 (GRCm39)	A86T	probably benign	Het
Lysmd3	C	T	13: 81,813,363 (GRCm39)	A77V	probably damaging	Het
Npr3	T	A	15: 11,895,780 (GRCm39)	S289C	probably damaging	Het
Or52n2	A	T	7: 104,542,179 (GRCm39)	S219T	probably damaging	Het
Or5p57	A	G	7: 107,665,495 (GRCm39)	V140A	probably benign	Het
Pear1	C	T	3: 87,659,423 (GRCm39)	V804I	possibly damaging	Het
Rgs11	T	A	17: 26,426,371 (GRCm39)	I230N	probably damaging	Het
Slc13a3	A	T	2: 165,315,017 (GRCm39)	L22Q	possibly damaging	Het
Slc5a9	A	G	4: 111,755,766 (GRCm39)	V44A	probably damaging	Het
Ttc12	G	T	9: 49,382,506 (GRCm39)		probably null	Het
Vmn2r2	A	G	3: 64,041,319 (GRCm39)		probably benign	Het
Zc3h18	T	C	8: 123,113,591 (GRCm39)		probably benign	Het
Zfp354a	G	A	11: 50,960,190 (GRCm39)	E132K	probably benign	Het

Other mutations in Fnip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20