Mutagenetix > Incidental Mutations

Incidental Mutation 'R2517:Frs3'

254011

Institutional Source

Beutler Lab

Gene Symbol

Frs3

Ensembl Gene

ENSMUSG00000023266

Gene Name

fibroblast growth factor receptor substrate 3

Synonyms

4930417B13Rik, SNT2, Frs2beta

MMRRC Submission

040421-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.592) question?

Stock #

R2517 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

47689030-47704286 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 47703072 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 230 (R230Q)

Ref Sequence

ENSEMBL: ENSMUSP00000108921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113296] [ENSMUST00000156118]

Predicted Effect

probably benign
Transcript: ENSMUST00000113296
AA Change: R230Q

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108921
Gene: ENSMUSG00000023266
AA Change: R230Q

Domain	Start	End	E-Value	Type
IRS	17	110	4.31e-33	SMART
PTBI	18	110	1.23e-48	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144979

Predicted Effect

probably benign
Transcript: ENSMUST00000156118

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700042G07Rik	A	G	4: 116,173,594	D65G	probably benign	Het
Adcy4	C	A	14: 55,781,946	E82D	probably damaging	Het
AF067061	T	A	13: 120,263,939	C46*	probably null	Het
Ago1	G	A	4: 126,439,939	R486*	probably null	Het
Ago2	T	A	15: 73,124,242	N346I	possibly damaging	Het
Apol11a	A	T	15: 77,517,195	D294V	probably benign	Het
Atp13a5	A	G	16: 29,297,397	F634L	possibly damaging	Het
Atp2a2	G	A	5: 122,457,513	P953L	probably damaging	Het
Brca2	A	G	5: 150,539,672	D967G	probably benign	Het
Bud13	A	T	9: 46,288,148	H269L	probably benign	Het
Cachd1	A	T	4: 100,980,882		probably null	Het
Cog3	T	C	14: 75,741,742	D188G	probably benign	Het
Col15a1	T	C	4: 47,208,492	S20P	probably damaging	Het
Col4a3	A	G	1: 82,680,710	D838G	unknown	Het
Cwh43	A	T	5: 73,421,543	T298S	probably benign	Het
Dip2c	A	G	13: 9,609,005	R847G	probably damaging	Het
Dnah2	C	T	11: 69,516,644	D438N	probably damaging	Het
Drg2	T	C	11: 60,468,128	V358A	probably damaging	Het
Eif4enif1	T	A	11: 3,221,168	W220R	probably damaging	Het
Enpp2	A	T	15: 54,919,694	I75K	probably damaging	Het
Fam110c	T	C	12: 31,075,239	I400T	probably damaging	Het
Fam193b	C	A	13: 55,542,816	R711L	probably damaging	Het
Fgfr1	T	C	8: 25,563,446	Y246H	probably damaging	Het
Galnt5	A	G	2: 57,999,413	K342E	probably benign	Het
Glrb	A	T	3: 80,861,747	L189Q	probably damaging	Het
Gmeb2	T	C	2: 181,259,026	T193A	probably benign	Het
Gnl3	A	G	14: 31,014,163	S307P	probably damaging	Het
Golim4	A	T	3: 75,892,859	F443I	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Klf10	A	C	15: 38,297,113	Y228D	probably benign	Het
Klrc3	A	T	6: 129,639,557	W166R	probably damaging	Het
Kng2	A	T	16: 22,988,315	I378N	probably benign	Het
Map3k10	T	C	7: 27,663,263	K466R	possibly damaging	Het
Mrrf	C	T	2: 36,189,097	T245M	probably benign	Het
Msi1	A	G	5: 115,445,458	Y239C	probably damaging	Het
Nfasc	A	G	1: 132,597,763		probably null	Het
Olfr1375	T	A	11: 51,048,473	L122Q	probably damaging	Het
Olfr843	A	T	9: 19,249,061	C113S	probably benign	Het
Pkd1l1	T	C	11: 8,958,900	E368G	unknown	Het
Polq	G	A	16: 37,089,325	G2078D	probably damaging	Het
Ppfibp1	A	C	6: 146,992,444	I134L	probably damaging	Het
Rasip1	A	T	7: 45,634,823	I608F	probably damaging	Het
Ripk3	A	T	14: 55,788,035	V24E	probably damaging	Het
Rtkn	T	A	6: 83,147,545	I110N	probably damaging	Het
Scn1a	C	T	2: 66,273,832	V1695I	probably damaging	Het
Shank2	A	G	7: 144,052,305	N75S	possibly damaging	Het
Snu13	C	A	15: 82,043,981	A14S	probably benign	Het
Snx27	A	C	3: 94,531,234	D231E	probably damaging	Het
Spef2	A	G	15: 9,725,197	I158T	possibly damaging	Het
Sptb	A	G	12: 76,649,869	I19T	possibly damaging	Het
Ssu72	T	C	4: 155,733,513	L175P	probably damaging	Het
Tecr	C	T	8: 83,572,575	V248I	probably benign	Het
Tnfrsf13b	T	G	11: 61,141,476	S59A	probably benign	Het
Tom1l1	T	C	11: 90,671,125	T150A	possibly damaging	Het
Ubr3	A	T	2: 69,936,018	Y410F	probably damaging	Het
Vmn2r108	A	G	17: 20,472,315	I93T	probably damaging	Het
Vmn2r19	A	G	6: 123,329,978	T482A	probably benign	Het
Vstm4	T	A	14: 32,863,707	M77K	probably benign	Het
Zbtb17	C	T	4: 141,464,585	T309I	probably damaging	Het
Zfp957	T	C	14: 79,214,054	T102A	probably damaging	Het

Other mutations in Frs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0310:Frs3	UTSW	17	47703822	missense	probably benign
R0575:Frs3	UTSW	17	47703723	missense	possibly damaging	0.89
R0638:Frs3	UTSW	17	47701656	missense	probably benign	0.00
R1519:Frs3	UTSW	17	47702978	missense	probably benign
R1668:Frs3	UTSW	17	47703222	missense	possibly damaging	0.94
R2151:Frs3	UTSW	17	47703062	missense	probably benign
R3548:Frs3	UTSW	17	47703636	missense	probably damaging	1.00
R3789:Frs3	UTSW	17	47699696	critical splice donor site	probably null
R3890:Frs3	UTSW	17	47703435	missense	probably damaging	0.99
R4981:Frs3	UTSW	17	47689262	unclassified	probably null
R4996:Frs3	UTSW	17	47701710	missense	probably damaging	1.00
R5479:Frs3	UTSW	17	47701710	missense	probably damaging	1.00
R5944:Frs3	UTSW	17	47692308	intron	probably benign
R5990:Frs3	UTSW	17	47701677	missense	possibly damaging	0.81
R6102:Frs3	UTSW	17	47702671	missense	probably damaging	1.00
R6151:Frs3	UTSW	17	47689088	start gained	probably benign
R7219:Frs3	UTSW	17	47702695	missense	probably damaging	1.00
R7359:Frs3	UTSW	17	47699525	missense	probably damaging	0.98
R7404:Frs3	UTSW	17	47702726	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCCCAGTCCTTGAAACCACTTG -3'
(R):5'- TTCTCATAGTGCAGCAGGGC -3'

Sequencing Primer
(F):5'- AGTCCTTGAAACCACTTGATTCAC -3'
(R):5'- TCAGGGCTCAGTCTCCAG -3'

Posted On

2014-12-04