Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01919:Farp2'

180059

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 #

IGL01919

Quality Score

Status

Chromosome

Chromosomal Location

93439826-93549698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93504155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 311 (K311E)

Ref Sequence

ENSEMBL: ENSMUSP00000113790 (fasta)

Gene Model

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

AlphaFold

Q91VS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000041983
AA Change: K311E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043545
Gene: ENSMUSG00000034066
AA Change: K311E

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 damaging
Transcript: ENSMUST00000120301
AA Change: K311E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: K311E

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 damaging
Transcript: ENSMUST00000122402
AA Change: K311E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113790
Gene: ENSMUSG00000034066
AA Change: K311E

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,608,580 (GRCm39)		probably null	Het
Alms1	T	C	6: 85,604,986 (GRCm39)	F2212S	possibly damaging	Het
Anpep	T	C	7: 79,475,098 (GRCm39)	I155V	possibly damaging	Het
Aoc1	G	A	6: 48,885,223 (GRCm39)	V653M	probably damaging	Het
Arl8b	T	C	6: 108,798,518 (GRCm39)		probably benign	Het
Bax	A	C	7: 45,115,552 (GRCm39)		probably null	Het
Cpne7	G	A	8: 123,852,382 (GRCm39)	E195K	probably damaging	Het
Csmd3	A	G	15: 47,539,168 (GRCm39)	I2330T	possibly damaging	Het
Dnajc16	A	G	4: 141,501,940 (GRCm39)	S297P	probably benign	Het
Fhad1	A	G	4: 141,691,906 (GRCm39)	L410P	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm12185	T	C	11: 48,798,886 (GRCm39)	T536A	possibly damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hydin	C	T	8: 111,245,806 (GRCm39)	T2173I	possibly damaging	Het
Kpnb1	A	G	11: 97,055,556 (GRCm39)	V783A	probably benign	Het
Krt1	A	G	15: 101,754,811 (GRCm39)	V509A	unknown	Het
Lrwd1	A	T	5: 136,164,729 (GRCm39)	L26*	probably null	Het
Mal2	T	A	15: 54,451,728 (GRCm39)	W50R	probably damaging	Het
Map3k21	A	T	8: 126,668,871 (GRCm39)	E819V	probably damaging	Het
Mrgprx3-ps	T	C	7: 46,959,959 (GRCm39)	T11A	probably benign	Het
Mroh2b	T	C	15: 4,953,170 (GRCm39)	F635L	probably benign	Het
Mylip	G	A	13: 45,562,178 (GRCm39)	E327K	probably damaging	Het
Nfix	T	C	8: 85,453,103 (GRCm39)	D308G	probably damaging	Het
Or1l8	G	A	2: 36,817,824 (GRCm39)	Q101*	probably null	Het
Or7e166	G	A	9: 19,624,638 (GRCm39)	V172I	probably benign	Het
Psma6	A	G	12: 55,454,254 (GRCm39)	E26G	probably damaging	Het
Rgs16	T	A	1: 153,617,804 (GRCm39)	S105T	probably damaging	Het
Slc25a23	T	A	17: 57,354,291 (GRCm39)	N372Y	possibly damaging	Het
Slc35e2	A	G	4: 155,697,187 (GRCm39)	M234V	probably benign	Het
Tbc1d8	A	G	1: 39,431,334 (GRCm39)	V346A	probably damaging	Het
Tgfb1i1	C	T	7: 127,847,654 (GRCm39)		probably benign	Het
Triml2	A	C	8: 43,643,349 (GRCm39)	T177P	probably damaging	Het
Uba6	T	C	5: 86,267,245 (GRCm39)	T959A	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	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
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
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

2014-05-07