Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02375:Farp2'

291070

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 #

IGL02375

Quality Score

Status

Chromosome

Chromosomal Location

93439826-93549698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93504185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 321 (R321G)

Ref Sequence

ENSEMBL: ENSMUSP00000113790 (fasta)

Gene Model

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

AlphaFold

Q91VS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000120301
AA Change: R321G

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

SMART Domains

Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: R321G

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: R321G

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

SMART Domains

Protein: ENSMUSP00000113790
Gene: ENSMUSG00000034066
AA Change: R321G

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,854,813 (GRCm39)	K76N	possibly damaging	Het
Agxt	A	G	1: 93,063,425 (GRCm39)	E109G	probably damaging	Het
Alcam	T	C	16: 52,109,299 (GRCm39)	T325A	probably benign	Het
Apol7c	T	C	15: 77,413,049 (GRCm39)	E67G	probably damaging	Het
Bco1	C	A	8: 117,840,178 (GRCm39)	S232Y	probably benign	Het
Cacna1c	A	T	6: 118,652,884 (GRCm39)	V763D	probably damaging	Het
Ccdc15	T	C	9: 37,215,628 (GRCm39)	D618G	probably damaging	Het
Cimip1	A	G	2: 173,364,496 (GRCm39)	M14V	probably benign	Het
Col6a5	T	C	9: 105,783,312 (GRCm39)	N1603S	unknown	Het
Cyp4v3	A	G	8: 45,761,411 (GRCm39)		probably null	Het
Eml5	A	T	12: 98,810,346 (GRCm39)	V870E	probably damaging	Het
Epn2	A	G	11: 61,410,497 (GRCm39)	V512A	probably damaging	Het
Garin3	G	T	11: 46,297,379 (GRCm39)	V228L	probably damaging	Het
Gprasp1	T	C	X: 134,701,552 (GRCm39)	S582P	probably damaging	Het
Grhl2	T	C	15: 37,291,821 (GRCm39)	V303A	probably damaging	Het
Grik1	A	T	16: 87,743,444 (GRCm39)	F594L	probably damaging	Het
Hivep1	A	G	13: 42,309,925 (GRCm39)	K722E	probably benign	Het
Htr5b	G	A	1: 121,455,564 (GRCm39)	R119C	probably damaging	Het
Ifit2	T	C	19: 34,551,737 (GRCm39)	S426P	probably benign	Het
Kif13a	T	C	13: 46,978,698 (GRCm39)	Y234C	probably damaging	Het
Mios	T	A	6: 8,222,598 (GRCm39)	F511I	probably benign	Het
Mtfmt	T	C	9: 65,346,849 (GRCm39)	W148R	probably damaging	Het
Myo1c	C	A	11: 75,552,400 (GRCm39)	T391N	probably benign	Het
Nlrp1a	A	T	11: 71,004,339 (GRCm39)	L710*	probably null	Het
Nlrp1b	A	G	11: 71,052,506 (GRCm39)	I971T	probably damaging	Het
Nup43	A	G	10: 7,549,358 (GRCm39)	D171G	probably damaging	Het
Or5b12b	A	G	19: 12,861,305 (GRCm39)	E20G	probably benign	Het
P2rx7	T	C	5: 122,811,719 (GRCm39)		probably benign	Het
Pgap6	T	A	17: 26,338,473 (GRCm39)	Y512N	probably benign	Het
Poli	C	T	18: 70,656,363 (GRCm39)	G155R	probably damaging	Het
Rad9b	T	C	5: 122,471,405 (GRCm39)	S220G	possibly damaging	Het
Rgn	C	T	X: 20,416,700 (GRCm39)	S28L	probably damaging	Het
Tcp11l2	G	A	10: 84,440,932 (GRCm39)		probably null	Het
Tenm4	G	A	7: 96,353,344 (GRCm39)	V379I	possibly damaging	Het
Thsd7a	A	T	6: 12,343,264 (GRCm39)	C1118S	probably damaging	Het
Trpm7	A	G	2: 126,667,664 (GRCm39)	Y776H	probably damaging	Het
Trpv4	T	C	5: 114,774,418 (GRCm39)	N222S	probably benign	Het
Tut1	C	T	19: 8,941,403 (GRCm39)	R397C	probably damaging	Het
Vmn1r72	T	A	7: 11,403,672 (GRCm39)	T259S	probably benign	Het
Wdr17	A	G	8: 55,149,423 (GRCm39)	S2P	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
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

2015-04-16