Mutagenetix > Incidental Mutation

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, Frs2beta, SNT2

MMRRC Submission

040421-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.575) question?

Stock #

R2517 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

47999955-48015211 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 48013997 bp (GRCm39)

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]

AlphaFold

Q91WJ0

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
Adcy4	C	A	14: 56,019,403 (GRCm39)	E82D	probably damaging	Het
Ago1	G	A	4: 126,333,732 (GRCm39)	R486*	probably null	Het
Ago2	T	A	15: 72,996,091 (GRCm39)	N346I	possibly damaging	Het
Apol11a	A	T	15: 77,401,395 (GRCm39)	D294V	probably benign	Het
Atp13a5	A	G	16: 29,116,215 (GRCm39)	F634L	possibly damaging	Het
Atp2a2	G	A	5: 122,595,576 (GRCm39)	P953L	probably damaging	Het
Brca2	A	G	5: 150,463,137 (GRCm39)	D967G	probably benign	Het
Bud13	A	T	9: 46,199,446 (GRCm39)	H269L	probably benign	Het
Cachd1	A	T	4: 100,838,079 (GRCm39)		probably null	Het
Cog3	T	C	14: 75,979,182 (GRCm39)	D188G	probably benign	Het
Col15a1	T	C	4: 47,208,492 (GRCm39)	S20P	probably damaging	Het
Col4a3	A	G	1: 82,658,431 (GRCm39)	D838G	unknown	Het
Cwh43	A	T	5: 73,578,886 (GRCm39)	T298S	probably benign	Het
Dip2c	A	G	13: 9,659,041 (GRCm39)	R847G	probably damaging	Het
Dnah2	C	T	11: 69,407,470 (GRCm39)	D438N	probably damaging	Het
Drg2	T	C	11: 60,358,954 (GRCm39)	V358A	probably damaging	Het
Eif4enif1	T	A	11: 3,171,168 (GRCm39)	W220R	probably damaging	Het
Enpp2	A	T	15: 54,783,090 (GRCm39)	I75K	probably damaging	Het
Fam110c	T	C	12: 31,125,238 (GRCm39)	I400T	probably damaging	Het
Fam193b	C	A	13: 55,690,629 (GRCm39)	R711L	probably damaging	Het
Fgfr1	T	C	8: 26,053,462 (GRCm39)	Y246H	probably damaging	Het
Galnt5	A	G	2: 57,889,425 (GRCm39)	K342E	probably benign	Het
Glrb	A	T	3: 80,769,054 (GRCm39)	L189Q	probably damaging	Het
Gmeb2	T	C	2: 180,900,819 (GRCm39)	T193A	probably benign	Het
Gnl3	A	G	14: 30,736,120 (GRCm39)	S307P	probably damaging	Het
Golim4	A	T	3: 75,800,166 (GRCm39)	F443I	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Klf10	A	C	15: 38,297,357 (GRCm39)	Y228D	probably benign	Het
Klrc3	A	T	6: 129,616,520 (GRCm39)	W166R	probably damaging	Het
Kng2	A	T	16: 22,807,065 (GRCm39)	I378N	probably benign	Het
Map3k10	T	C	7: 27,362,688 (GRCm39)	K466R	possibly damaging	Het
Mrrf	C	T	2: 36,079,109 (GRCm39)	T245M	probably benign	Het
Msi1	A	G	5: 115,583,517 (GRCm39)	Y239C	probably damaging	Het
Nfasc	A	G	1: 132,525,501 (GRCm39)		probably null	Het
Or1x6	T	A	11: 50,939,300 (GRCm39)	L122Q	probably damaging	Het
Or7g25	A	T	9: 19,160,357 (GRCm39)	C113S	probably benign	Het
P3r3urf	A	G	4: 116,030,791 (GRCm39)	D65G	probably benign	Het
Pkd1l1	T	C	11: 8,908,900 (GRCm39)	E368G	unknown	Het
Polq	G	A	16: 36,909,687 (GRCm39)	G2078D	probably damaging	Het
Ppfibp1	A	C	6: 146,893,942 (GRCm39)	I134L	probably damaging	Het
Rasip1	A	T	7: 45,284,247 (GRCm39)	I608F	probably damaging	Het
Ripk3	A	T	14: 56,025,492 (GRCm39)	V24E	probably damaging	Het
Rtkn	T	A	6: 83,124,526 (GRCm39)	I110N	probably damaging	Het
Scn1a	C	T	2: 66,104,176 (GRCm39)	V1695I	probably damaging	Het
Shank2	A	G	7: 143,606,042 (GRCm39)	N75S	possibly damaging	Het
Snu13	C	A	15: 81,928,182 (GRCm39)	A14S	probably benign	Het
Snx27	A	C	3: 94,438,541 (GRCm39)	D231E	probably damaging	Het
Spef2	A	G	15: 9,725,283 (GRCm39)	I158T	possibly damaging	Het
Sptb	A	G	12: 76,696,643 (GRCm39)	I19T	possibly damaging	Het
Ssu72	T	C	4: 155,817,970 (GRCm39)	L175P	probably damaging	Het
Tcstv2a	T	A	13: 120,725,475 (GRCm39)	C46*	probably null	Het
Tecr	C	T	8: 84,299,204 (GRCm39)	V248I	probably benign	Het
Tnfrsf13b	T	G	11: 61,032,302 (GRCm39)	S59A	probably benign	Het
Tom1l1	T	C	11: 90,561,951 (GRCm39)	T150A	possibly damaging	Het
Ubr3	A	T	2: 69,766,362 (GRCm39)	Y410F	probably damaging	Het
Vmn2r108	A	G	17: 20,692,577 (GRCm39)	I93T	probably damaging	Het
Vmn2r19	A	G	6: 123,306,937 (GRCm39)	T482A	probably benign	Het
Vstm4	T	A	14: 32,585,664 (GRCm39)	M77K	probably benign	Het
Zbtb17	C	T	4: 141,191,896 (GRCm39)	T309I	probably damaging	Het
Zfp957	T	C	14: 79,451,494 (GRCm39)	T102A	probably 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
R1668:Frs3	UTSW	17	48,014,147 (GRCm39)	missense	possibly damaging	0.94
R2151:Frs3	UTSW	17	48,013,987 (GRCm39)	missense	probably benign
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'- TCCCAGTCCTTGAAACCACTTG -3'
(R):5'- TTCTCATAGTGCAGCAGGGC -3'

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

Posted On

2014-12-04