Mutagenetix > Incidental Mutation

Incidental Mutation 'R6593:Farp2'

523455

Institutional Source

Beutler Lab

Gene Symbol

Farp2

Ensembl Gene

ENSMUSG00000034066

Gene Name

FERM, RhoGEF and pleckstrin domain protein 2

Synonyms

Fir, D030026M03Rik

MMRRC Submission

044717-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6593 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93439826-93549698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 93497662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 231 (I231L)

Ref Sequence

ENSEMBL: ENSMUSP00000112725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120301] [ENSMUST00000122402]

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

possibly damaging
Transcript: ENSMUST00000120301
AA Change: I231L

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: I231L

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

probably benign
Transcript: ENSMUST00000122402
AA Change: I231L

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113790
Gene: ENSMUSG00000034066
AA Change: I231L

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	463	475	N/A	INTRINSIC
low complexity region	565	576	N/A	INTRINSIC
low complexity region	690	700	N/A	INTRINSIC
low complexity region	734	753	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.2%
10x: 96.6%
20x: 89.6%

Validation Efficiency

100% (37/37)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,903,491 (GRCm39)	N1047K	probably benign	Het
AI597479	C	A	1: 43,150,408 (GRCm39)	Q173K	probably damaging	Het
Arhgef10	T	C	8: 15,012,522 (GRCm39)	L282P	probably damaging	Het
Arhgef10	T	C	8: 15,012,564 (GRCm39)	I296T	possibly damaging	Het
Atg2b	A	G	12: 105,611,107 (GRCm39)	S1275P	probably damaging	Het
Cep290	T	C	10: 100,344,638 (GRCm39)	M485T	probably benign	Het
Clca3a2	A	G	3: 144,514,338 (GRCm39)		probably null	Het
Clcn6	C	T	4: 148,095,226 (GRCm39)	S731N	probably benign	Het
Clic6	A	G	16: 92,325,005 (GRCm39)	I388V	possibly damaging	Het
Cpsf4l	G	T	11: 113,600,192 (GRCm39)		probably benign	Het
Dlg5	G	A	14: 24,200,720 (GRCm39)	H1350Y	probably benign	Het
Dnase2b	T	C	3: 146,292,666 (GRCm39)	Y169C	probably damaging	Het
Elavl3	C	T	9: 21,929,843 (GRCm39)	V354M	possibly damaging	Het
Gcc2	T	A	10: 58,107,329 (GRCm39)	M755K	probably damaging	Het
Gpr88	T	C	3: 116,046,273 (GRCm39)	T13A	unknown	Het
Gstm3	T	A	3: 107,875,511 (GRCm39)	N40Y	probably benign	Het
Krtap5-2	A	T	7: 141,728,697 (GRCm39)	C328S	unknown	Het
Lpar1	A	T	4: 58,486,605 (GRCm39)	V222E	probably damaging	Het
Neto2	A	G	8: 86,396,175 (GRCm39)	S192P	probably damaging	Het
Odad1	T	A	7: 45,596,808 (GRCm39)	D378E	probably damaging	Het
Or52n3	C	T	7: 104,530,640 (GRCm39)	T242I	probably damaging	Het
Pcdhgb1	G	T	18: 37,815,134 (GRCm39)	D542Y	probably damaging	Het
Phldb2	G	A	16: 45,645,790 (GRCm39)	Q264*	probably null	Het
Ptgs2	G	A	1: 149,976,784 (GRCm39)	D6N	possibly damaging	Het
Rasef	G	T	4: 73,663,327 (GRCm39)	H167N	probably damaging	Het
Rbbp4	A	G	4: 129,216,168 (GRCm39)	L193S	probably damaging	Het
Rigi	T	C	4: 40,226,651 (GRCm39)	I169V	probably benign	Het
Sec24d	T	C	3: 123,147,061 (GRCm39)	F673S	probably damaging	Het
Slc9b1	T	C	3: 135,063,219 (GRCm39)	M1T	probably null	Het
Stra6	A	G	9: 58,059,262 (GRCm39)	T542A	probably benign	Het
Stt3b	T	C	9: 115,081,579 (GRCm39)	Y569C	probably damaging	Het
Traf3ip1	A	G	1: 91,455,417 (GRCm39)	K626R	possibly damaging	Het
Washc2	T	A	6: 116,236,210 (GRCm39)	I1227N	probably damaging	Het
Xpo7	G	A	14: 70,919,802 (GRCm39)	A671V	probably damaging	Het
Zfp799	A	G	17: 33,038,764 (GRCm39)	Y501H	probably 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
IGL03223:Farp2	APN	1	93,545,324 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CATAGAAGTGAACCATCTGCCTTC -3'
(R):5'- ATGCCAAGATTCTCTTCCACAC -3'

Sequencing Primer
(F):5'- TCTGCCTTCTAAAAACAAAGTCTTCC -3'
(R):5'- TGCCAAGATTCTCTTCCACACATACC -3'

Posted On

2018-06-22