Mutagenetix > Incidental Mutation

Incidental Mutation 'R0034:Farp1'

15271

Institutional Source

Beutler Lab

Gene Symbol

Farp1

Ensembl Gene

ENSMUSG00000025555

Gene Name

FERM, ARH/RhoGEF and pleckstrin domain protein 1

Synonyms

Cdep

MMRRC Submission

038328-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0034 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

121272612-121521156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121492841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 481 (H481R)

Ref Sequence

ENSEMBL: ENSMUSP00000026635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026635]

AlphaFold

F8VPU2

Predicted Effect

probably benign
Transcript: ENSMUST00000026635
AA Change: H481R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000026635
Gene: ENSMUSG00000025555
AA Change: H481R

Domain	Start	End	E-Value	Type
B41	36	230	3.27e-68	SMART
FERM_C	234	324	3.87e-32	SMART
FA	328	374	6.07e-16	SMART
RhoGEF	546	732	2.07e-47	SMART
PH	763	861	1.05e-16	SMART
PH	936	1034	1.55e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137971

Meta Mutation Damage Score

0.0811

Coding Region Coverage

1x: 76.6%
3x: 64.3%
10x: 35.1%
20x: 16.8%

Validation Efficiency

87% (59/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asns	G	A	6: 7,676,299 (GRCm39)	P419L	probably damaging	Het
Cep152	C	T	2: 125,425,813 (GRCm39)	A851T	probably benign	Het
Chrna7	T	G	7: 62,798,354 (GRCm39)	K109N	possibly damaging	Het
Dnaaf9	T	C	2: 130,578,492 (GRCm39)	H664R	probably damaging	Het
Kif9	G	A	9: 110,348,679 (GRCm39)	C738Y	probably benign	Het
Klf12	A	G	14: 100,224,865 (GRCm39)		probably null	Het
Ltbp1	T	A	17: 75,354,563 (GRCm39)		probably benign	Het
Map2k4	A	G	11: 65,610,437 (GRCm39)		probably benign	Het
Nat8f5	C	A	6: 85,794,868 (GRCm39)	A31S	probably benign	Het
Plb1	G	T	5: 32,430,457 (GRCm39)	G138V	probably benign	Het
Plcz1	A	T	6: 139,966,174 (GRCm39)		probably benign	Het
Poln	A	C	5: 34,272,762 (GRCm39)	V398G	possibly damaging	Het
Ppp2r2c	A	G	5: 37,084,883 (GRCm39)	I115V	probably benign	Het
Rapgef1	C	A	2: 29,614,780 (GRCm39)		probably benign	Het
Rbm43	A	T	2: 51,815,722 (GRCm39)	D166E	probably benign	Het
Sgk3	T	C	1: 9,955,902 (GRCm39)	V301A	probably damaging	Het
Trap1	A	T	16: 3,886,894 (GRCm39)		probably benign	Het
Trim14	A	G	4: 46,523,627 (GRCm39)	L137P	probably damaging	Het
Tsku	T	C	7: 98,001,870 (GRCm39)	T154A	possibly damaging	Het
Usp50	T	C	2: 126,619,895 (GRCm39)	E139G	possibly damaging	Het
Zfp949	A	T	9: 88,449,693 (GRCm39)		probably benign	Het
Zscan20	T	C	4: 128,479,455 (GRCm39)	N1012S	probably damaging	Het

Other mutations in Farp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00584:Farp1	APN	14	121,474,561 (GRCm39)	missense	probably damaging	1.00
IGL01017:Farp1	APN	14	121,510,186 (GRCm39)	missense	possibly damaging	0.64
IGL02309:Farp1	APN	14	121,480,928 (GRCm39)	missense	probably benign
IGL02376:Farp1	APN	14	121,510,268 (GRCm39)	missense	probably damaging	0.98
IGL03018:Farp1	APN	14	121,339,581 (GRCm39)	missense	probably benign
IGL03400:Farp1	APN	14	121,444,733 (GRCm39)	missense	probably damaging	1.00
R0046:Farp1	UTSW	14	121,492,925 (GRCm39)	missense	probably benign	0.00
R0046:Farp1	UTSW	14	121,492,925 (GRCm39)	missense	probably benign	0.00
R0219:Farp1	UTSW	14	121,481,012 (GRCm39)	missense	possibly damaging	0.88
R0359:Farp1	UTSW	14	121,492,808 (GRCm39)	splice site	probably benign
R0616:Farp1	UTSW	14	121,514,434 (GRCm39)	missense	probably damaging	1.00
R0653:Farp1	UTSW	14	121,471,258 (GRCm39)	critical splice donor site	probably null
R0710:Farp1	UTSW	14	121,474,555 (GRCm39)	missense	probably damaging	1.00
R1391:Farp1	UTSW	14	121,495,378 (GRCm39)	nonsense	probably null
R1791:Farp1	UTSW	14	121,494,157 (GRCm39)	missense	probably damaging	1.00
R1920:Farp1	UTSW	14	121,492,908 (GRCm39)	missense	probably benign	0.16
R1953:Farp1	UTSW	14	121,492,894 (GRCm39)	missense	probably benign
R1958:Farp1	UTSW	14	121,456,787 (GRCm39)	critical splice acceptor site	probably null
R2891:Farp1	UTSW	14	121,494,148 (GRCm39)	missense	probably damaging	1.00
R3121:Farp1	UTSW	14	121,460,138 (GRCm39)	splice site	probably benign
R4005:Farp1	UTSW	14	121,513,809 (GRCm39)	missense	probably damaging	0.99
R4257:Farp1	UTSW	14	121,492,891 (GRCm39)	missense	probably benign	0.00
R4559:Farp1	UTSW	14	121,510,213 (GRCm39)	missense	probably damaging	1.00
R4654:Farp1	UTSW	14	121,513,716 (GRCm39)	missense	possibly damaging	0.50
R4739:Farp1	UTSW	14	121,476,199 (GRCm39)	missense	probably damaging	1.00
R4831:Farp1	UTSW	14	121,514,469 (GRCm39)	missense	probably damaging	1.00
R4988:Farp1	UTSW	14	121,513,019 (GRCm39)	missense	probably damaging	1.00
R5379:Farp1	UTSW	14	121,494,169 (GRCm39)	missense	possibly damaging	0.88
R5463:Farp1	UTSW	14	121,472,489 (GRCm39)	missense	probably damaging	1.00
R5466:Farp1	UTSW	14	121,472,489 (GRCm39)	missense	probably damaging	1.00
R5467:Farp1	UTSW	14	121,472,489 (GRCm39)	missense	probably damaging	1.00
R5511:Farp1	UTSW	14	121,474,584 (GRCm39)	missense	probably damaging	0.98
R5520:Farp1	UTSW	14	121,472,489 (GRCm39)	missense	probably damaging	1.00
R5635:Farp1	UTSW	14	121,513,716 (GRCm39)	missense	possibly damaging	0.96
R5639:Farp1	UTSW	14	121,512,794 (GRCm39)	missense	probably damaging	1.00
R5954:Farp1	UTSW	14	121,460,079 (GRCm39)	missense	probably damaging	0.99
R6765:Farp1	UTSW	14	121,460,066 (GRCm39)	missense	probably benign	0.00
R7469:Farp1	UTSW	14	121,512,833 (GRCm39)	missense	probably damaging	1.00
R7549:Farp1	UTSW	14	121,472,589 (GRCm39)	missense	possibly damaging	0.89
R7660:Farp1	UTSW	14	121,514,334 (GRCm39)	missense	probably benign	0.00
R7752:Farp1	UTSW	14	121,495,359 (GRCm39)	missense	probably damaging	1.00
R7788:Farp1	UTSW	14	121,513,665 (GRCm39)	missense	probably benign	0.12
R7911:Farp1	UTSW	14	121,479,818 (GRCm39)	missense	probably damaging	1.00
R8013:Farp1	UTSW	14	121,479,813 (GRCm39)	missense	probably damaging	1.00
R8078:Farp1	UTSW	14	121,513,712 (GRCm39)	missense	probably benign	0.04
R8113:Farp1	UTSW	14	121,513,008 (GRCm39)	missense	probably benign	0.35
R8116:Farp1	UTSW	14	121,471,232 (GRCm39)	missense	probably damaging	1.00
R8716:Farp1	UTSW	14	121,479,855 (GRCm39)	missense	probably benign
R9103:Farp1	UTSW	14	121,509,104 (GRCm39)	missense	possibly damaging	0.55
R9190:Farp1	UTSW	14	121,492,988 (GRCm39)	missense	probably damaging	0.97
R9193:Farp1	UTSW	14	121,518,281 (GRCm39)	missense	probably benign	0.34
R9581:Farp1	UTSW	14	121,480,841 (GRCm39)	missense	probably benign	0.09
RF024:Farp1	UTSW	14	121,474,560 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-17