Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03074:Farp2'

417625

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 #

IGL03074

Quality Score

Status

Chromosome

Chromosomal Location

93439826-93549698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93488049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 92 (V92A)

Ref Sequence

ENSEMBL: ENSMUSP00000113790 (fasta)

Gene Model

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

AlphaFold

Q91VS8

Predicted Effect

probably benign
Transcript: ENSMUST00000041983
AA Change: V92A

SMART Domains

Protein: ENSMUSP00000043545
Gene: ENSMUSG00000034066
AA Change: V92A

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: ENSMUST00000120301
AA Change: V92A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: V92A

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: V92A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113790
Gene: ENSMUSG00000034066
AA Change: V92A

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
Abca5	T	A	11: 110,201,101 (GRCm39)	Y433F	probably benign	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Anks4b	A	T	7: 119,781,140 (GRCm39)	D57V	probably damaging	Het
Brwd1	A	G	16: 95,813,050 (GRCm39)	V1486A	probably benign	Het
Cd163	A	G	6: 124,294,945 (GRCm39)	T670A	probably benign	Het
Dmtf1	T	C	5: 9,174,435 (GRCm39)		probably benign	Het
Dnajc22	T	A	15: 98,999,403 (GRCm39)	L196Q	probably damaging	Het
Dock9	A	G	14: 121,844,682 (GRCm39)	L1097P	possibly damaging	Het
Dtna	T	C	18: 23,735,662 (GRCm39)	V339A	possibly damaging	Het
Dysf	T	A	6: 84,165,208 (GRCm39)	S1646T	probably benign	Het
Ermp1	A	T	19: 29,589,935 (GRCm39)	Y893N	probably damaging	Het
Etv6	A	T	6: 134,199,888 (GRCm39)	N76I	probably damaging	Het
Fgf21	T	C	7: 45,263,605 (GRCm39)	T158A	probably benign	Het
Gcm1	T	C	9: 77,972,057 (GRCm39)	S333P	possibly damaging	Het
Grm7	T	A	6: 111,472,604 (GRCm39)		probably null	Het
Itgae	T	C	11: 73,016,136 (GRCm39)	F782L	probably benign	Het
Kbtbd8	A	G	6: 95,099,333 (GRCm39)	T204A	probably damaging	Het
Kcp	A	G	6: 29,496,630 (GRCm39)	C627R	probably damaging	Het
Loxhd1	T	C	18: 77,529,480 (GRCm39)	V2041A	possibly damaging	Het
Mcm5	T	C	8: 75,845,929 (GRCm39)	M379T	possibly damaging	Het
Mcu	A	G	10: 59,303,580 (GRCm39)	S86P	probably damaging	Het
Naa25	T	C	5: 121,546,400 (GRCm39)		probably null	Het
Or10ag59	T	A	2: 87,405,680 (GRCm39)	L84H	possibly damaging	Het
Or5b117	A	G	19: 13,431,417 (GRCm39)	S155P	probably damaging	Het
Osbpl9	T	C	4: 108,929,158 (GRCm39)	H400R	probably damaging	Het
Pip5kl1	A	G	2: 32,470,353 (GRCm39)	N278D	probably damaging	Het
Ppp1r12b	T	C	1: 134,763,758 (GRCm39)	T759A	probably benign	Het
Psg27	T	C	7: 18,294,454 (GRCm39)	T318A	probably benign	Het
Rtkn2	T	G	10: 67,877,551 (GRCm39)	L537R	probably damaging	Het
Sdr39u1	C	T	14: 56,137,103 (GRCm39)		probably null	Het
Slc38a1	A	T	15: 96,490,405 (GRCm39)	I124N	possibly damaging	Het
Sumf2	T	A	5: 129,888,674 (GRCm39)		probably benign	Het
Thsd7a	A	G	6: 12,324,680 (GRCm39)	Y1464H	probably damaging	Het
Unc80	C	T	1: 66,710,877 (GRCm39)		probably benign	Het
Zfp366	A	G	13: 99,382,913 (GRCm39)	D692G	probably benign	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
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

2016-08-02