Mutagenetix > Incidental Mutations

Incidental Mutation 'R7549:Farp1'

584419

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7549 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121035200-121283744 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121235177 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 241 (N241K)

Ref Sequence

ENSEMBL: ENSMUSP00000026635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026635] [ENSMUST00000135010]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026635
AA Change: N241K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026635
Gene: ENSMUSG00000025555
AA Change: N241K

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

probably benign
Transcript: ENSMUST00000135010

SMART Domains

Protein: ENSMUSP00000116985
Gene: ENSMUSG00000025555

Domain	Start	End	E-Value	Type
B41	36	210	3.4e-48	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,558,995	R92S	unknown	Het
Adam1b	A	G	5: 121,501,918	C355R	probably damaging	Het
Adamtsl3	T	C	7: 82,573,909	L966P	probably damaging	Het
Aldh18a1	A	G	19: 40,564,847	C486R	probably damaging	Het
Aqp11	C	A	7: 97,738,077		probably benign	Het
Arhgap28	A	G	17: 67,871,966	L350P	probably damaging	Het
Art3	A	G	5: 92,403,655	Q291R	probably benign	Het
Asb15	A	G	6: 24,559,030		probably null	Het
Bmp8b	T	C	4: 123,105,655	I102T	possibly damaging	Het
Bsn	T	C	9: 108,114,815	D1246G	probably benign	Het
Cass4	G	A	2: 172,426,798	G267S	probably benign	Het
Cass4	G	T	2: 172,426,799	G267V	probably benign	Het
Ccr7	T	C	11: 99,145,901	Y65C	probably damaging	Het
Clstn2	A	C	9: 97,582,544	I186S	probably benign	Het
Cyp2r1	A	G	7: 114,554,644	I105T	possibly damaging	Het
Efr3a	T	A	15: 65,815,413		probably null	Het
Erg	A	C	16: 95,369,320		probably null	Het
Eya4	A	T	10: 23,111,658	V524E	probably damaging	Het
Fat1	A	T	8: 44,988,994	Y1111F	probably benign	Het
Fbn1	T	C	2: 125,344,027	E1607G	probably damaging	Het
Fbn2	A	T	18: 58,020,464	C2575*	probably null	Het
Fsip2	A	T	2: 82,993,993	D6690V	probably damaging	Het
Fzd4	T	C	7: 89,407,138	V131A	possibly damaging	Het
Gfral	T	A	9: 76,198,975	N110I	probably benign	Het
Glce	T	C	9: 62,060,993	D292G	probably damaging	Het
Gm19410	T	A	8: 35,799,346	I1051K	probably benign	Het
Gm5773	A	T	3: 93,773,016		probably benign	Het
Hcn3	A	T	3: 89,150,000	H430Q	probably null	Het
Hspa8	T	A	9: 40,802,959		probably null	Het
Ifna7	A	T	4: 88,816,427	D67V	possibly damaging	Het
Kif5c	T	A	2: 49,701,093	M319K	probably benign	Het
Klk7	G	T	7: 43,812,773		probably null	Het
Kmt2c	T	C	5: 25,414,970	K102E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lrp1b	C	T	2: 40,875,122	M2897I		Het
Lysmd2	T	C	9: 75,637,237	S211P	probably damaging	Het
Magi1	T	G	6: 93,708,114	E761A	probably benign	Het
Mbd5	T	A	2: 49,251,343	I106N	probably damaging	Het
Mdc1	G	A	17: 35,848,857	A669T	probably null	Het
Mmp1b	A	G	9: 7,384,753	I265T	probably benign	Het
Mmp2	T	A	8: 92,836,966	L356Q	probably null	Het
Mroh8	A	G	2: 157,269,572	L154P	probably benign	Het
Muc13	T	C	16: 33,799,436	S185P	unknown	Het
Nuak1	T	A	10: 84,374,539	I562F	probably benign	Het
Obscn	C	A	11: 59,042,838		probably null	Het
Olfr1137	A	T	2: 87,711,771	M45K	probably damaging	Het
Olfr574	T	C	7: 102,948,591	I42T	possibly damaging	Het
Olfr827	T	C	10: 130,210,984	M49V	probably benign	Het
Pex3	T	C	10: 13,542,670	M81V	probably benign	Het
Pex5l	T	A	3: 33,082,035	I12F	probably benign	Het
Phf3	G	T	1: 30,831,475	T164N	probably benign	Het
Phpt1	G	T	2: 25,574,832	A3E	probably benign	Het
Pja2	A	T	17: 64,309,415	L162M	probably damaging	Het
Pkdrej	T	A	15: 85,819,793	K647N	probably damaging	Het
Ppp2r1a	T	C	17: 20,962,682	S543P	possibly damaging	Het
Prdm13	C	A	4: 21,679,072	D473Y	probably damaging	Het
Prl6a1	A	T	13: 27,318,971	E183D	probably damaging	Het
Psmd3	C	T	11: 98,690,961	T304M	probably benign	Het
Ptpn5	C	T	7: 47,086,126		probably null	Het
Rassf6	T	G	5: 90,606,802	I206L	probably damaging	Het
Rif1	A	G	2: 52,078,507	H234R	possibly damaging	Het
Rint1	T	C	5: 23,815,704	V575A	probably benign	Het
Ros1	G	A	10: 52,145,834	T639I	probably damaging	Het
Ryr2	A	G	13: 11,737,985	F1817L	probably benign	Het
Ska1	T	C	18: 74,200,017	D110G	probably benign	Het
Slc25a41	G	A	17: 57,033,791	T227I	probably damaging	Het
Slc6a15	T	C	10: 103,389,137	S29P	probably benign	Het
Slc8a3	A	T	12: 81,314,770	I425K	probably benign	Het
Sox8	T	A	17: 25,567,961	Q256L	probably damaging	Het
Tarsl2	T	C	7: 65,647,593	V152A	probably damaging	Het
Tbx10	A	T	19: 3,996,651	T44S	probably benign	Het
Terb1	T	A	8: 104,498,084	I52F	possibly damaging	Het
Tes	AGCCGGCC	AGCC	6: 17,099,741		probably null	Het
Tgm1	A	G	14: 55,705,903	V527A	probably benign	Het
Tmed10	G	T	12: 85,344,262	Y167*	probably null	Het
Tmem165	T	G	5: 76,208,568	S318R	possibly damaging	Het
Trim9	G	T	12: 70,346,941	S76R	probably damaging	Het
Tti1	A	G	2: 158,007,168	V717A	probably damaging	Het
Vmn2r86	T	A	10: 130,446,828	I640F	probably damaging	Het
Vwf	A	G	6: 125,626,267	N860S		Het
Xirp2	A	G	2: 67,508,897	K494R	possibly damaging	Het
Zkscan4	G	A	13: 21,484,249	S319N	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
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
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
RF024:Farp1	UTSW	14	121237148	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGCTGCTTGGTCTCAAAG -3'
(R):5'- GAGATCCACTAGAGGCCTTAGC -3'

Sequencing Primer
(F):5'- GCTGCTTGGTCTCAAAGTAATAGAC -3'
(R):5'- CCCACCCATGTTAACCTGG -3'

Posted On

2019-10-17