Mutagenetix > Incidental Mutation

Incidental Mutation 'R8337:Frs3'

644701

Institutional Source

Beutler Lab

Gene Symbol

Frs3

Ensembl Gene

ENSMUSG00000023266

Gene Name

fibroblast growth factor receptor substrate 3

Synonyms

4930417B13Rik, Frs2beta, SNT2

MMRRC Submission

067800-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.575) question?

Stock #

R8337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47999955-48015211 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48014777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 490 (L490Q)

Ref Sequence

ENSEMBL: ENSMUSP00000108921 (fasta)

Gene Model

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

AlphaFold

Q91WJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000113296
AA Change: L490Q

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

SMART Domains

Protein: ENSMUSP00000108921
Gene: ENSMUSG00000023266
AA Change: L490Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156118

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	C	16: 88,556,151 (GRCm39)	Y122H	probably damaging	Het
Abhd14b	T	A	9: 106,327,240 (GRCm39)	H7Q	probably benign	Het
Acod1	C	T	14: 103,286,780 (GRCm39)	R28W	possibly damaging	Het
Agap2	A	G	10: 126,924,194 (GRCm39)	T803A	unknown	Het
Angptl7	T	C	4: 148,581,741 (GRCm39)	E215G	probably damaging	Het
Ankrd34c	T	A	9: 89,611,951 (GRCm39)	D130V	probably damaging	Het
BC028528	A	G	3: 95,792,298 (GRCm39)	V144A	probably benign	Het
Cab39l	T	C	14: 59,776,640 (GRCm39)	F274L	probably damaging	Het
Cdsn	T	C	17: 35,866,415 (GRCm39)	S315P	possibly damaging	Het
Celsr3	CGGGG	CGGGGG	9: 108,718,471 (GRCm39)		probably null	Het
Cep97	A	T	16: 55,735,394 (GRCm39)	L540*	probably null	Het
Chrna2	G	T	14: 66,387,017 (GRCm39)	E388*	probably null	Het
Ckap4	A	G	10: 84,364,460 (GRCm39)	V201A	probably damaging	Het
Clec4b1	A	G	6: 123,042,922 (GRCm39)	K47R	probably benign	Het
Clvs2	A	T	10: 33,404,484 (GRCm39)	I244N	possibly damaging	Het
Cmtr1	G	A	17: 29,893,151 (GRCm39)	E57K	probably benign	Het
Cxxc1	T	A	18: 74,353,910 (GRCm39)	D565E	possibly damaging	Het
Dtx3l	T	A	16: 35,754,073 (GRCm39)	M178L	probably benign	Het
Eml2	A	G	7: 18,930,161 (GRCm39)	D294G	possibly damaging	Het
Flt3	A	G	5: 147,269,698 (GRCm39)		probably null	Het
Gm6882	G	A	7: 21,161,559 (GRCm39)	T103I	possibly damaging	Het
Gsdmd	C	T	15: 75,736,270 (GRCm39)	T133I	probably benign	Het
Hhipl2	C	A	1: 183,209,540 (GRCm39)	C331*	probably null	Het
Ifnar1	C	A	16: 91,302,224 (GRCm39)	D566E	possibly damaging	Het
Ighv1-34	A	T	12: 114,814,939 (GRCm39)	N74K	probably benign	Het
Itk	T	C	11: 46,233,222 (GRCm39)		probably null	Het
Kdm7a	T	C	6: 39,122,461 (GRCm39)	D801G	probably benign	Het
Marchf1	T	C	8: 66,871,641 (GRCm39)	L139P	probably damaging	Het
Metap1d	T	C	2: 71,345,982 (GRCm39)	V181A	probably damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mrps25	T	C	6: 92,152,745 (GRCm39)	T92A	probably benign	Het
Mucl3	T	C	17: 35,948,486 (GRCm39)	H371R	possibly damaging	Het
Ntng2	C	A	2: 29,138,050 (GRCm39)	M1I	probably null	Het
Or51b17	C	T	7: 103,542,256 (GRCm39)	G229R	probably benign	Het
Or51q1	A	C	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or8b57	T	C	9: 40,003,695 (GRCm39)	K189R	probably benign	Het
Pla2g12a	A	G	3: 129,672,465 (GRCm39)	D33G	probably damaging	Het
Prlhr	A	G	19: 60,456,284 (GRCm39)	V94A	possibly damaging	Het
Ralgapb	T	A	2: 158,292,192 (GRCm39)	S793T	probably benign	Het
Rapgef6	T	A	11: 54,522,127 (GRCm39)	L455*	probably null	Het
Sbf2	T	C	7: 110,040,669 (GRCm39)	H386R	probably benign	Het
Sec23ip	C	A	7: 128,365,749 (GRCm39)	N539K	probably damaging	Het
Shisa4	A	G	1: 135,300,907 (GRCm39)	L121P	probably damaging	Het
Slc28a2b	C	T	2: 122,355,617 (GRCm39)	T603I	probably benign	Het
Stard9	T	A	2: 120,510,306 (GRCm39)	F296I	probably damaging	Het
Strn3	T	C	12: 51,707,955 (GRCm39)	K147E	probably damaging	Het
Taf5l	T	C	8: 124,724,841 (GRCm39)	N326S	probably benign	Het
Tfb2m	T	A	1: 179,369,914 (GRCm39)	I170L	probably benign	Het
Tfec	T	C	6: 16,845,422 (GRCm39)	N79S	possibly damaging	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Tox3	T	C	8: 91,074,507 (GRCm39)	Y24C	probably damaging	Het
Vmn2r6	A	T	3: 64,463,526 (GRCm39)	L436*	probably null	Het
Vmn2r80	A	G	10: 78,984,707 (GRCm39)	I20V	probably benign	Het
Wdr97	T	C	15: 76,245,684 (GRCm39)	V1307A		Het

Other mutations in Frs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0310:Frs3	UTSW	17	48,014,747 (GRCm39)	missense	probably benign
R0575:Frs3	UTSW	17	48,014,648 (GRCm39)	missense	possibly damaging	0.89
R0638:Frs3	UTSW	17	48,012,581 (GRCm39)	missense	probably benign	0.00
R1519:Frs3	UTSW	17	48,013,903 (GRCm39)	missense	probably benign
R1668:Frs3	UTSW	17	48,014,147 (GRCm39)	missense	possibly damaging	0.94
R2151:Frs3	UTSW	17	48,013,987 (GRCm39)	missense	probably benign
R2517:Frs3	UTSW	17	48,013,997 (GRCm39)	missense	probably benign	0.10
R3548:Frs3	UTSW	17	48,014,561 (GRCm39)	missense	probably damaging	1.00
R3789:Frs3	UTSW	17	48,010,621 (GRCm39)	critical splice donor site	probably null
R3890:Frs3	UTSW	17	48,014,360 (GRCm39)	missense	probably damaging	0.99
R4981:Frs3	UTSW	17	48,000,187 (GRCm39)	splice site	probably null
R4996:Frs3	UTSW	17	48,012,635 (GRCm39)	missense	probably damaging	1.00
R5479:Frs3	UTSW	17	48,012,635 (GRCm39)	missense	probably damaging	1.00
R5944:Frs3	UTSW	17	48,003,233 (GRCm39)	intron	probably benign
R5990:Frs3	UTSW	17	48,012,602 (GRCm39)	missense	possibly damaging	0.81
R6102:Frs3	UTSW	17	48,013,596 (GRCm39)	missense	probably damaging	1.00
R6151:Frs3	UTSW	17	48,000,013 (GRCm39)	start gained	probably benign
R7219:Frs3	UTSW	17	48,013,620 (GRCm39)	missense	probably damaging	1.00
R7359:Frs3	UTSW	17	48,010,450 (GRCm39)	missense	probably damaging	0.98
R7404:Frs3	UTSW	17	48,013,651 (GRCm39)	critical splice donor site	probably null
R7962:Frs3	UTSW	17	48,010,463 (GRCm39)	missense	possibly damaging	0.95
R8021:Frs3	UTSW	17	48,014,039 (GRCm39)	missense	probably damaging	1.00
R8407:Frs3	UTSW	17	48,009,552 (GRCm39)	missense	probably damaging	1.00
R8976:Frs3	UTSW	17	48,009,546 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GCTCAACTACATCCAGGTGG -3'
(R):5'- TGAGAACCCTTCACAGTTTCCAC -3'

Sequencing Primer
(F):5'- TCCAGGTGGAGCTCAAGG -3'
(R):5'- ACAGTTTCCACCATGGTTCC -3'

Posted On

2020-09-02