Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03223:Farp2'

413699

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Farp2

Ensembl Gene

ENSMUSG00000034066

Gene Name

FERM, RhoGEF and pleckstrin domain protein 2

Synonyms

Fir, D030026M03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03223

Quality Score

Status

Chromosome

Chromosomal Location

93439826-93549698 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 93545324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 827 (Y827*)

Ref Sequence

ENSEMBL: ENSMUSP00000112725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027498] [ENSMUST00000120301]

AlphaFold

Q91VS8

PDB Structure

Crystal strucure of the DH domain of FARP2 [X-RAY DIFFRACTION]
Crystal strucure of the DH-PH-PH domain of FARP2 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000027498

SMART Domains

Protein: ENSMUSP00000027498
Gene: ENSMUSG00000026277

Domain	Start	End	E-Value	Type
S_TKc	20	270	2.92e-98	SMART
low complexity region	292	314	N/A	INTRINSIC
PDB:3W8H\|B	355	426	8e-43	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000120301
AA Change: Y827*

SMART Domains

Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: Y827*

Domain	Start	End	E-Value	Type
B41	40	234	1.48e-66	SMART
FERM_C	238	328	3.29e-35	SMART
FA	332	378	1.13e-15	SMART
low complexity region	409	421	N/A	INTRINSIC
low complexity region	440	459	N/A	INTRINSIC
low complexity region	462	473	N/A	INTRINSIC
low complexity region	478	492	N/A	INTRINSIC
RhoGEF	542	728	1.57e-56	SMART
PH	759	857	1.45e-19	SMART
low complexity region	879	890	N/A	INTRINSIC
PH	931	1029	2.62e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154008

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3b1	T	A	19: 3,965,329 (GRCm39)	H394L	probably damaging	Het
B430306N03Rik	G	A	17: 48,623,896 (GRCm39)	V66I	probably damaging	Het
Btbd10	T	C	7: 112,931,877 (GRCm39)	N175S	probably damaging	Het
Dock4	C	A	12: 40,867,593 (GRCm39)	Q1390K	probably damaging	Het
Eea1	A	C	10: 95,875,473 (GRCm39)	E1248A	probably damaging	Het
Gcc2	A	G	10: 58,134,556 (GRCm39)	Y1510C	probably damaging	Het
Igfbp7	A	C	5: 77,497,318 (GRCm39)		probably benign	Het
Il1rapl1	A	C	X: 86,344,341 (GRCm39)	C185G	probably damaging	Het
Itga7	A	G	10: 128,784,680 (GRCm39)		probably benign	Het
Itsn1	T	C	16: 91,702,194 (GRCm39)	V12A	probably benign	Het
Lrrc4	A	T	6: 28,831,469 (GRCm39)	C49S	probably damaging	Het
Lrrc49	T	A	9: 60,595,128 (GRCm39)	K5N	possibly damaging	Het
Myh13	T	C	11: 67,241,068 (GRCm39)	I815T	probably benign	Het
Myh8	T	C	11: 67,174,644 (GRCm39)	I253T	probably damaging	Het
Myo19	A	G	11: 84,801,297 (GRCm39)	T948A	possibly damaging	Het
Nhs	T	A	X: 160,624,902 (GRCm39)	I837F	probably damaging	Het
Or5b113	G	T	19: 13,342,645 (GRCm39)	V218L	probably benign	Het
Or5b98	T	C	19: 12,931,268 (GRCm39)	V105A	probably benign	Het
Pfpl	A	T	19: 12,407,438 (GRCm39)	Q563L	probably damaging	Het
Swt1	A	G	1: 151,255,170 (GRCm39)	M809T	possibly damaging	Het
Tbc1d13	T	A	2: 30,038,648 (GRCm39)	I311N	probably damaging	Het
Tgs1	T	C	4: 3,591,322 (GRCm39)		probably benign	Het
Usf3	C	T	16: 44,036,813 (GRCm39)	T431M	probably damaging	Het
Vdac1	G	A	11: 52,267,482 (GRCm39)	R93H	probably benign	Het
Vmn1r234	G	A	17: 21,449,653 (GRCm39)	G189D	probably damaging	Het
Zfp14	A	G	7: 29,737,858 (GRCm39)	Y376H	probably damaging	Het
Zfp472	T	C	17: 33,196,248 (GRCm39)	C108R	probably benign	Het
Zfp658	A	G	7: 43,216,735 (GRCm39)	E35G	possibly damaging	Het

Other mutations in Farp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Farp2	APN	1	93,531,103 (GRCm39)	missense	probably benign	0.00
IGL00953:Farp2	APN	1	93,488,896 (GRCm39)	missense	possibly damaging	0.92
IGL00961:Farp2	APN	1	93,549,035 (GRCm39)	missense	possibly damaging	0.81
IGL00970:Farp2	APN	1	93,488,049 (GRCm39)	missense	probably benign	0.00
IGL01377:Farp2	APN	1	93,531,181 (GRCm39)	missense	possibly damaging	0.74
IGL01408:Farp2	APN	1	93,546,702 (GRCm39)	missense	probably benign	0.19
IGL01919:Farp2	APN	1	93,504,155 (GRCm39)	missense	probably damaging	1.00
IGL01985:Farp2	APN	1	93,535,324 (GRCm39)	missense	probably damaging	1.00
IGL02375:Farp2	APN	1	93,504,185 (GRCm39)	missense	probably damaging	1.00
IGL02392:Farp2	APN	1	93,505,372 (GRCm39)	missense	probably damaging	1.00
IGL02815:Farp2	APN	1	93,488,007 (GRCm39)	missense	probably damaging	1.00
IGL03003:Farp2	APN	1	93,495,140 (GRCm39)	missense	probably damaging	1.00
IGL03074:Farp2	APN	1	93,488,049 (GRCm39)	missense	probably benign	0.00
IGL03379:Farp2	APN	1	93,535,160 (GRCm39)	missense	probably benign	0.08
IGL02802:Farp2	UTSW	1	93,456,332 (GRCm39)	missense	probably damaging	1.00
PIT4468001:Farp2	UTSW	1	93,456,499 (GRCm39)	nonsense	probably null
PIT4494001:Farp2	UTSW	1	93,545,316 (GRCm39)	missense	probably damaging	1.00
R0207:Farp2	UTSW	1	93,496,809 (GRCm39)	missense	probably damaging	0.96
R0521:Farp2	UTSW	1	93,504,543 (GRCm39)	critical splice acceptor site	probably null
R0594:Farp2	UTSW	1	93,504,222 (GRCm39)	missense	probably damaging	1.00
R1386:Farp2	UTSW	1	93,547,873 (GRCm39)	splice site	probably null
R1522:Farp2	UTSW	1	93,546,275 (GRCm39)	missense	possibly damaging	0.79
R1589:Farp2	UTSW	1	93,507,582 (GRCm39)	missense	probably damaging	1.00
R1651:Farp2	UTSW	1	93,531,191 (GRCm39)	critical splice donor site	probably null
R1695:Farp2	UTSW	1	93,488,047 (GRCm39)	missense	probably damaging	0.97
R1833:Farp2	UTSW	1	93,504,086 (GRCm39)	splice site	probably benign
R1915:Farp2	UTSW	1	93,456,424 (GRCm39)	missense	probably benign	0.16
R2241:Farp2	UTSW	1	93,507,625 (GRCm39)	missense	probably benign	0.31
R4505:Farp2	UTSW	1	93,546,732 (GRCm39)	missense	probably damaging	1.00
R4518:Farp2	UTSW	1	93,548,363 (GRCm39)	missense	probably benign	0.04
R4551:Farp2	UTSW	1	93,546,314 (GRCm39)	missense	possibly damaging	0.92
R4723:Farp2	UTSW	1	93,508,621 (GRCm39)	missense	probably benign	0.07
R4821:Farp2	UTSW	1	93,502,192 (GRCm39)	splice site	probably null
R4861:Farp2	UTSW	1	93,533,141 (GRCm39)	missense	probably damaging	1.00
R4861:Farp2	UTSW	1	93,533,141 (GRCm39)	missense	probably damaging	1.00
R5221:Farp2	UTSW	1	93,504,140 (GRCm39)	missense	probably damaging	0.99
R5625:Farp2	UTSW	1	93,456,470 (GRCm39)	missense	probably damaging	1.00
R5663:Farp2	UTSW	1	93,497,735 (GRCm39)	missense	probably damaging	1.00
R5935:Farp2	UTSW	1	93,548,367 (GRCm39)	critical splice donor site	probably null
R6593:Farp2	UTSW	1	93,497,662 (GRCm39)	missense	possibly damaging	0.48
R6853:Farp2	UTSW	1	93,497,738 (GRCm39)	missense	probably damaging	1.00
R7001:Farp2	UTSW	1	93,547,952 (GRCm39)	missense	possibly damaging	0.94
R7001:Farp2	UTSW	1	93,547,906 (GRCm39)	missense	possibly damaging	0.94
R7133:Farp2	UTSW	1	93,548,956 (GRCm39)	missense	probably damaging	1.00
R7134:Farp2	UTSW	1	93,531,181 (GRCm39)	missense	probably benign	0.04
R7184:Farp2	UTSW	1	93,531,137 (GRCm39)	missense	probably damaging	1.00
R7219:Farp2	UTSW	1	93,488,040 (GRCm39)	missense	probably damaging	0.97
R7234:Farp2	UTSW	1	93,507,841 (GRCm39)	missense	possibly damaging	0.94
R7426:Farp2	UTSW	1	93,548,950 (GRCm39)	missense	possibly damaging	0.55
R7477:Farp2	UTSW	1	93,508,750 (GRCm39)	splice site	probably null
R7503:Farp2	UTSW	1	93,495,219 (GRCm39)	missense	probably benign	0.03
R7921:Farp2	UTSW	1	93,495,237 (GRCm39)	critical splice donor site	probably null
R7939:Farp2	UTSW	1	93,487,983 (GRCm39)	missense	probably damaging	1.00
R7985:Farp2	UTSW	1	93,504,246 (GRCm39)	missense	probably damaging	1.00
R8162:Farp2	UTSW	1	93,548,325 (GRCm39)	missense	probably damaging	1.00
R8207:Farp2	UTSW	1	93,548,965 (GRCm39)	missense	probably benign	0.00
R8292:Farp2	UTSW	1	93,456,350 (GRCm39)	missense	probably damaging	1.00
R8348:Farp2	UTSW	1	93,504,614 (GRCm39)	critical splice donor site	probably null
R8495:Farp2	UTSW	1	93,531,139 (GRCm39)	missense	possibly damaging	0.74
R9106:Farp2	UTSW	1	93,488,910 (GRCm39)	critical splice donor site	probably null
Z1176:Farp2	UTSW	1	93,508,189 (GRCm39)	missense	probably benign	0.00
Z1176:Farp2	UTSW	1	93,508,183 (GRCm39)	missense	probably benign
Z1176:Farp2	UTSW	1	93,507,858 (GRCm39)	missense	probably benign

Posted On

2016-08-02