Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Farp1'

43733

Institutional Source

Beutler Lab

Gene Symbol

Farp1

Ensembl Gene

ENSMUSG00000025555

Gene Name

FERM, RhoGEF (Arhgef) and pleckstrin domain protein 1 (chondrocyte-derived)

Synonyms

Cdep

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121035200-121283744 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121255513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 509 (K509R)

Ref Sequence

ENSEMBL: ENSMUSP00000026635 (fasta)

Gene Model

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

AlphaFold

F8VPU2

Predicted Effect

probably benign
Transcript: ENSMUST00000026635
AA Change: K509R

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

SMART Domains

Protein: ENSMUSP00000026635
Gene: ENSMUSG00000025555
AA Change: K509R

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

0.0682

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877	K135*	probably null	Het
Adamts16	A	G	13: 70,763,460	S871P	probably benign	Het
Adcy10	A	T	1: 165,539,834	I558F	probably damaging	Het
Adsl	T	G	15: 80,962,788		probably null	Het
Aldob	T	C	4: 49,543,842	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,337	P19L	probably damaging	Het
Apoa5	T	C	9: 46,269,998	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,240,097	L533Q	probably benign	Het
Atp7b	T	C	8: 22,059,995	T9A	probably benign	Het
Auh	G	A	13: 52,929,385		probably benign	Het
B3gnt3	T	C	8: 71,692,923	Y267C	probably damaging	Het
BC051142	T	C	17: 34,460,121		probably null	Het
Card11	T	C	5: 140,908,524	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,844,152	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,723,460	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,359,300	D1108E	probably benign	Het
Col14a1	G	A	15: 55,408,963		probably benign	Het
Col6a6	C	T	9: 105,748,848		probably benign	Het
Col9a3	G	A	2: 180,609,487	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,959,832		probably benign	Het
Cpt2	A	G	4: 107,904,362		probably null	Het
Crebrf	T	A	17: 26,763,334	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,782,035		noncoding transcript	Het
Dhx9	C	T	1: 153,472,707	V291M	probably benign	Het
Dmxl1	T	A	18: 49,878,082	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,456,874		probably null	Het
Dock4	G	A	12: 40,737,360		probably benign	Het
Dpp3	G	T	19: 4,914,643	N545K	probably damaging	Het
Elmo2	T	A	2: 165,298,726	N275I	probably damaging	Het
Fat3	T	C	9: 15,965,979	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,374,990		probably benign	Het
Flg	T	A	3: 93,277,721		probably benign	Het
Gas2l2	A	T	11: 83,421,910	W859R	probably damaging	Het
Gatm	T	C	2: 122,600,744	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,827,755		probably benign	Het
Haus5	C	T	7: 30,654,180	V591I	probably benign	Het
Kcnab3	G	A	11: 69,330,227		probably null	Het
Khdrbs2	A	G	1: 32,619,202	D281G	possibly damaging	Het
Krt86	A	T	15: 101,477,402	M393L	probably benign	Het
Limk1	T	C	5: 134,672,761	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,013,155	Y100*	probably null	Het
Mamstr	T	G	7: 45,641,770		probably benign	Het
Man1a	A	G	10: 53,919,187	Y657H	probably damaging	Het
Marf1	G	A	16: 14,111,727	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,683,818	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,525,669	N881I	probably damaging	Het
Nox3	T	C	17: 3,682,961	Y225C	probably benign	Het
Nrp1	C	T	8: 128,500,608		probably benign	Het
Olfr1080	A	G	2: 86,553,632	F164S	probably damaging	Het
Olfr1214	C	T	2: 88,987,349	M284I	probably benign	Het
Olfr1260	C	T	2: 89,978,507	T243I	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr742	T	A	14: 50,516,139	*312K	probably null	Het
Pcdhb13	A	T	18: 37,444,257	M563L	probably benign	Het
Pclo	C	T	5: 14,540,479	T931M	unknown	Het
Peli2	C	T	14: 48,121,202	P16S	possibly damaging	Het
Pfas	G	T	11: 68,990,467	R1025S	probably benign	Het
Pik3c2a	A	T	7: 116,354,072	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 109,535,985		probably benign	Het
Prg4	T	C	1: 150,456,086	T279A	possibly damaging	Het
Psma1	A	T	7: 114,267,205		probably benign	Het
Rab11fip1	A	G	8: 27,153,121	L550P	probably damaging	Het
Rgs12	T	A	5: 34,965,320	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,399,231	H195R	probably damaging	Het
Rnf17	T	C	14: 56,471,373	L750P	probably damaging	Het
Rtcb	T	C	10: 85,957,656	N18D	probably benign	Het
Seh1l	T	C	18: 67,792,016		probably null	Het
Sis	T	G	3: 72,932,094	N813T	probably benign	Het
Sptbn2	T	C	19: 4,745,377		probably benign	Het
Stag3	C	T	5: 138,283,023		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Taok3	C	T	5: 117,272,229	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Ttn	A	G	2: 76,951,542		probably benign	Het
Unc79	A	G	12: 103,125,681	E1756G	probably damaging	Het
Usp35	A	T	7: 97,313,597		probably null	Het
Vmn2r111	A	G	17: 22,548,009	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,801,938	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,987,278	C1067R	probably damaging	Het

Other mutations in Farp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00584:Farp1	APN	14	121237149	missense	probably damaging	1.00
IGL01017:Farp1	APN	14	121272774	missense	possibly damaging	0.64
IGL02309:Farp1	APN	14	121243516	missense	probably benign
IGL02376:Farp1	APN	14	121272856	missense	probably damaging	0.98
IGL03018:Farp1	APN	14	121102169	missense	probably benign
IGL03400:Farp1	APN	14	121207321	missense	probably damaging	1.00
R0034:Farp1	UTSW	14	121255429	missense	probably benign	0.00
R0046:Farp1	UTSW	14	121255513	missense	probably benign	0.00
R0219:Farp1	UTSW	14	121243600	missense	possibly damaging	0.88
R0359:Farp1	UTSW	14	121255396	splice site	probably benign
R0616:Farp1	UTSW	14	121277022	missense	probably damaging	1.00
R0653:Farp1	UTSW	14	121233846	critical splice donor site	probably null
R0710:Farp1	UTSW	14	121237143	missense	probably damaging	1.00
R1391:Farp1	UTSW	14	121257966	nonsense	probably null
R1791:Farp1	UTSW	14	121256745	missense	probably damaging	1.00
R1920:Farp1	UTSW	14	121255496	missense	probably benign	0.16
R1953:Farp1	UTSW	14	121255482	missense	probably benign
R1958:Farp1	UTSW	14	121219375	critical splice acceptor site	probably null
R2891:Farp1	UTSW	14	121256736	missense	probably damaging	1.00
R3121:Farp1	UTSW	14	121222726	splice site	probably benign
R4005:Farp1	UTSW	14	121276397	missense	probably damaging	0.99
R4257:Farp1	UTSW	14	121255479	missense	probably benign	0.00
R4559:Farp1	UTSW	14	121272801	missense	probably damaging	1.00
R4654:Farp1	UTSW	14	121276304	missense	possibly damaging	0.50
R4739:Farp1	UTSW	14	121238787	missense	probably damaging	1.00
R4831:Farp1	UTSW	14	121277057	missense	probably damaging	1.00
R4988:Farp1	UTSW	14	121275607	missense	probably damaging	1.00
R5379:Farp1	UTSW	14	121256757	missense	possibly damaging	0.88
R5463:Farp1	UTSW	14	121235077	missense	probably damaging	1.00
R5466:Farp1	UTSW	14	121235077	missense	probably damaging	1.00
R5467:Farp1	UTSW	14	121235077	missense	probably damaging	1.00
R5511:Farp1	UTSW	14	121237172	missense	probably damaging	0.98
R5520:Farp1	UTSW	14	121235077	missense	probably damaging	1.00
R5635:Farp1	UTSW	14	121276304	missense	possibly damaging	0.96
R5639:Farp1	UTSW	14	121275382	missense	probably damaging	1.00
R5954:Farp1	UTSW	14	121222667	missense	probably damaging	0.99
R6765:Farp1	UTSW	14	121222654	missense	probably benign	0.00
R7469:Farp1	UTSW	14	121275421	missense	probably damaging	1.00
R7549:Farp1	UTSW	14	121235177	missense	possibly damaging	0.89
R7660:Farp1	UTSW	14	121276922	missense	probably benign	0.00
R7752:Farp1	UTSW	14	121257947	missense	probably damaging	1.00
R7788:Farp1	UTSW	14	121276253	missense	probably benign	0.12
R7911:Farp1	UTSW	14	121242406	missense	probably damaging	1.00
R8013:Farp1	UTSW	14	121242401	missense	probably damaging	1.00
R8078:Farp1	UTSW	14	121276300	missense	probably benign	0.04
R8113:Farp1	UTSW	14	121275596	missense	probably benign	0.35
R8116:Farp1	UTSW	14	121233820	missense	probably damaging	1.00
R8716:Farp1	UTSW	14	121242443	missense	probably benign
R9103:Farp1	UTSW	14	121271692	missense	possibly damaging	0.55
R9190:Farp1	UTSW	14	121255576	missense	probably damaging	0.97
R9193:Farp1	UTSW	14	121280869	missense	probably benign	0.34
R9581:Farp1	UTSW	14	121243429	missense	probably benign	0.09
RF024:Farp1	UTSW	14	121237148	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAACAGCCCTCCAATTGCAGAAG -3'
(R):5'- GCCACATGGAAAGAGACATGCTGAC -3'

Sequencing Primer
(F):5'- GCCCTCCAATTGCAGAAGAAATTAC -3'
(R):5'- ctgacccaagccacccc -3'

Posted On

2013-05-29