Mutagenetix > Incidental Mutation

Incidental Mutation 'R1668:Frs3'

187408

Institutional Source

Beutler Lab

Gene Symbol

Frs3

Ensembl Gene

ENSMUSG00000023266

Gene Name

fibroblast growth factor receptor substrate 3

Synonyms

4930417B13Rik, Frs2beta, SNT2

MMRRC Submission

039704-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.575) question?

Stock #

R1668 (G1)

Quality Score

125

Status

Not validated

Chromosome

Chromosomal Location

47999955-48015211 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 48014147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 280 (P280Q)

Ref Sequence

ENSEMBL: ENSMUSP00000108921 (fasta)

Gene Model

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

AlphaFold

Q91WJ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113296
AA Change: P280Q

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108921
Gene: ENSMUSG00000023266
AA Change: P280Q

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra2c	T	C	5: 35,437,641 (GRCm39)	S138P	probably damaging	Het
Appl1	A	C	14: 26,645,811 (GRCm39)	S666R	probably damaging	Het
Arhgap45	A	G	10: 79,864,584 (GRCm39)	S879G	possibly damaging	Het
Calcoco2	T	C	11: 95,993,563 (GRCm39)	M140V	probably benign	Het
Cap2	C	A	13: 46,768,799 (GRCm39)	H147N	probably damaging	Het
Chd9	A	T	8: 91,767,814 (GRCm39)	H2437L	probably damaging	Het
Col5a3	A	G	9: 20,682,392 (GRCm39)	I1684T	unknown	Het
Comp	A	T	8: 70,831,607 (GRCm39)		probably null	Het
Cyp2c50	A	T	19: 40,079,499 (GRCm39)	M198L	probably benign	Het
Dnaaf2	A	G	12: 69,243,465 (GRCm39)	V532A	probably benign	Het
Dnah10	A	T	5: 124,842,626 (GRCm39)	Q1358L	probably benign	Het
Dop1b	T	A	16: 93,562,404 (GRCm39)	S832T	probably damaging	Het
Dus3l	T	G	17: 57,073,912 (GRCm39)	F162C	possibly damaging	Het
Epb41l4a	A	G	18: 34,054,962 (GRCm39)	L42P	probably damaging	Het
Ercc5	T	A	1: 44,206,193 (GRCm39)	S369T	probably benign	Het
Fbxl2	C	T	9: 113,818,214 (GRCm39)	V211M	probably benign	Het
Fermt3	A	G	19: 6,996,060 (GRCm39)	V45A	probably damaging	Het
Fxn	A	G	19: 24,239,377 (GRCm39)	Y172H	probably damaging	Het
Gabpa	T	C	16: 84,643,069 (GRCm39)	V122A	probably damaging	Het
Gsta4	A	G	9: 78,111,570 (GRCm39)	T66A	probably benign	Het
Hsdl2	C	T	4: 59,612,697 (GRCm39)	T296M	probably damaging	Het
Kank4	T	C	4: 98,667,133 (GRCm39)	N438S	probably damaging	Het
Krt24	A	G	11: 99,175,444 (GRCm39)	I197T	probably benign	Het
Lct	T	C	1: 128,215,459 (GRCm39)		probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mc4r	A	G	18: 66,992,480 (GRCm39)	L211P	probably damaging	Het
Mfsd4b5	T	C	10: 39,849,687 (GRCm39)	T111A	probably damaging	Het
Mgat5b	T	A	11: 116,874,474 (GRCm39)	N635K	probably benign	Het
Mms19	A	T	19: 41,940,995 (GRCm39)	M443K	possibly damaging	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Mroh5	T	C	15: 73,659,754 (GRCm39)	N359S	probably benign	Het
Mroh9	T	C	1: 162,852,161 (GRCm39)	I843V	possibly damaging	Het
Nbeal2	T	C	9: 110,467,961 (GRCm39)	D436G	probably damaging	Het
Nbr1	A	G	11: 101,460,592 (GRCm39)	D502G	probably benign	Het
Ngfr	C	T	11: 95,478,371 (GRCm39)	G5D	probably damaging	Het
Nlrc4	G	A	17: 74,752,901 (GRCm39)	T494M	probably damaging	Het
Notch3	T	A	17: 32,377,563 (GRCm39)	H171L	probably damaging	Het
Nsmaf	A	G	4: 6,398,880 (GRCm39)	L795P	probably damaging	Het
Nup210	T	C	6: 91,005,787 (GRCm39)	T616A	possibly damaging	Het
Or10d5	C	A	9: 39,861,465 (GRCm39)	V201L	possibly damaging	Het
Or1j18	T	A	2: 36,625,204 (GRCm39)	Y290*	probably null	Het
Or5ak25	T	A	2: 85,269,220 (GRCm39)	Y94F	probably benign	Het
Or5b113	A	C	19: 13,342,234 (GRCm39)	M81L	probably benign	Het
Osbpl5	T	C	7: 143,262,776 (GRCm39)	H192R	probably damaging	Het
Parp2	G	A	14: 51,058,313 (GRCm39)	R486Q	probably benign	Het
Pcgf6	G	A	19: 47,028,544 (GRCm39)	A286V	probably damaging	Het
Pla2r1	T	C	2: 60,258,990 (GRCm39)	T1133A	probably damaging	Het
Plekha2	T	C	8: 25,562,070 (GRCm39)	N48S	probably damaging	Het
Pole	T	G	5: 110,445,235 (GRCm39)	S461A	probably damaging	Het
Ppfibp2	T	C	7: 107,329,099 (GRCm39)	L536P	probably damaging	Het
Prkcz	G	T	4: 155,374,208 (GRCm39)	F69L	probably damaging	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Rab23	A	T	1: 33,773,935 (GRCm39)	K132*	probably null	Het
Rbck1	T	A	2: 152,158,819 (GRCm39)	S488C	probably damaging	Het
Rbl1	T	C	2: 157,001,654 (GRCm39)	Y878C	probably damaging	Het
Rpn2	C	T	2: 157,136,075 (GRCm39)	T161M	possibly damaging	Het
Rufy4	G	A	1: 74,186,837 (GRCm39)	V542I	probably benign	Het
Serpinb3d	A	G	1: 107,008,481 (GRCm39)	V128A	probably benign	Het
Smarca2	A	G	19: 26,624,434 (GRCm39)	I365V	possibly damaging	Het
Spata31f1a	G	T	4: 42,848,424 (GRCm39)	T1244K	probably damaging	Het
Sptb	A	G	12: 76,667,943 (GRCm39)	V718A	probably benign	Het
Susd4	A	G	1: 182,686,128 (GRCm39)	H226R	probably benign	Het
Tmem151b	T	C	17: 45,856,831 (GRCm39)	Y203C	probably damaging	Het
Tmppe	T	C	9: 114,233,968 (GRCm39)	V89A	possibly damaging	Het
Trappc6b	A	T	12: 59,094,907 (GRCm39)		probably null	Het
Ube4b	A	T	4: 149,445,751 (GRCm39)	M433K	probably benign	Het
Vmn1r202	A	T	13: 22,685,540 (GRCm39)	D292E	possibly damaging	Het
Vmn1r22	A	G	6: 57,877,704 (GRCm39)	M91T	probably benign	Het
Vmn1r43	T	C	6: 89,846,683 (GRCm39)	I268V	probably benign	Het
Vmn1r49	T	A	6: 90,049,764 (GRCm39)	R79S	probably benign	Het
Vmn2r14	T	A	5: 109,366,913 (GRCm39)	K436*	probably null	Het
Wdr72	A	G	9: 74,117,444 (GRCm39)	S719G	probably damaging	Het
Zfp526	T	C	7: 24,924,967 (GRCm39)	F409L	probably benign	Het
Zfp804b	A	C	5: 6,821,323 (GRCm39)	L580R	possibly damaging	Het
Zfp977	T	C	7: 42,230,070 (GRCm39)	T152A	probably benign	Het
Zyx	T	A	6: 42,332,966 (GRCm39)	V372E	possibly damaging	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
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
R8337:Frs3	UTSW	17	48,014,777 (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'- TCAACACACCAACTGGGGATGAGG -3'
(R):5'- CCATCAGGGAAGCCATTTGAGGAC -3'

Sequencing Primer
(F):5'- ATGGCAGAAGTCGCCACTG -3'
(R):5'- TAAGCCCGTCCCTGGAGTC -3'

Posted On

2014-05-09