Mutagenetix > Incidental Mutation

Incidental Mutation 'R6102:Frs3'

485342

Institutional Source

Beutler Lab

Gene Symbol

Frs3

Ensembl Gene

ENSMUSG00000023266

Gene Name

fibroblast growth factor receptor substrate 3

Synonyms

4930417B13Rik, SNT2, Frs2beta

MMRRC Submission

044252-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.612) question?

Stock #

R6102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47689030-47704286 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47702671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 173 (H173Y)

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: H173Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108921
Gene: ENSMUSG00000023266
AA Change: H173Y

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: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

97% (65/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,320,023 (GRCm38)	I290T	possibly damaging	Het
Apeh	T	A	9: 108,086,439 (GRCm38)	D559V	probably damaging	Het
Aspm	T	A	1: 139,477,459 (GRCm38)	Y1361*	probably null	Het
Atad5	G	T	11: 80,111,572 (GRCm38)		probably null	Het
Ccr4	C	T	9: 114,496,493 (GRCm38)		probably null	Het
Clasrp	G	A	7: 19,586,468 (GRCm38)		probably benign	Het
Cldn23	A	G	8: 35,825,551 (GRCm38)	M261T	probably benign	Het
Cmya5	T	C	13: 93,094,231 (GRCm38)	M1450V	probably benign	Het
Cyp4v3	T	A	8: 45,320,160 (GRCm38)	E202V	probably damaging	Het
Dnah7a	A	T	1: 53,559,140 (GRCm38)	V1412E	probably benign	Het
Dnah9	A	G	11: 65,990,516 (GRCm38)	S2578P	probably damaging	Het
Dsc2	T	A	18: 20,047,108 (GRCm38)	Y196F	probably benign	Het
Exoc1	T	C	5: 76,537,779 (GRCm38)	S113P	probably damaging	Het
Fbxo6	A	T	4: 148,149,522 (GRCm38)	I39N	probably damaging	Het
Ginm1	G	T	10: 7,768,496 (GRCm38)	T323K	probably benign	Het
Golgb1	T	C	16: 36,912,865 (GRCm38)	S825P	probably damaging	Het
Hs3st3b1	A	T	11: 63,921,855 (GRCm38)	C11*	probably null	Het
Ighv3-3	G	C	12: 114,196,460 (GRCm38)	A110G	possibly damaging	Het
Igkv6-20	G	A	6: 70,335,869 (GRCm38)	H107Y	probably benign	Het
Kcnj16	A	G	11: 111,025,577 (GRCm38)	E355G	probably benign	Het
Lig4	C	T	8: 9,972,872 (GRCm38)	G303S	probably damaging	Het
Map1b	A	C	13: 99,425,873 (GRCm38)	V2443G	unknown	Het
Map3k6	T	C	4: 133,247,131 (GRCm38)		probably null	Het
Mmp13	A	G	9: 7,276,688 (GRCm38)	Q261R	probably benign	Het
Mphosph9	T	A	5: 124,297,709 (GRCm38)	I554F	possibly damaging	Het
Mrgpra3	A	T	7: 47,590,149 (GRCm38)	F10I	possibly damaging	Het
Ms4a18	G	A	19: 11,013,523 (GRCm38)	T69I	probably benign	Het
Mtmr3	T	C	11: 4,487,673 (GRCm38)	N927S	probably damaging	Het
Necab1	T	A	4: 14,989,211 (GRCm38)	Q188L	probably benign	Het
Nfatc2	A	G	2: 168,519,507 (GRCm38)		probably benign	Het
Olfr152	T	C	2: 87,782,848 (GRCm38)	F103L	probably damaging	Het
Olfr495	T	C	7: 108,395,284 (GRCm38)	S55P	probably damaging	Het
Olfr854	T	C	9: 19,567,022 (GRCm38)	M121V	possibly damaging	Het
Paip2b	A	C	6: 83,808,846 (GRCm38)	V134G	possibly damaging	Het
Pax3	T	C	1: 78,132,347 (GRCm38)	T225A	probably damaging	Het
Pbx1	C	A	1: 168,183,565 (GRCm38)	A298S	probably benign	Het
Pcdhac2	A	T	18: 37,146,282 (GRCm38)	K772*	probably null	Het
Pcsk4	A	T	10: 80,325,817 (GRCm38)	Y163*	probably null	Het
Plcd3	A	G	11: 103,080,644 (GRCm38)	V58A	probably damaging	Het
Plek2	T	A	12: 78,900,093 (GRCm38)	T57S	possibly damaging	Het
Plscr2	C	T	9: 92,287,668 (GRCm38)	T57I	probably benign	Het
Ppp2r5b	A	G	19: 6,234,738 (GRCm38)	S32P	probably benign	Het
Ppp3r2	C	T	4: 49,682,022 (GRCm38)		probably benign	Het
Psme4	T	A	11: 30,865,567 (GRCm38)	L1693H	probably damaging	Het
Rrbp1	T	A	2: 143,988,393 (GRCm38)	Q618L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Rsrc1	C	T	3: 66,994,649 (GRCm38)	P44L	unknown	Het
Serpina3b	A	T	12: 104,134,169 (GRCm38)	T337S	probably benign	Het
Slc18a2	T	C	19: 59,293,878 (GRCm38)	Y506H	probably benign	Het
Slc9a9	A	G	9: 94,936,429 (GRCm38)	Y292C	probably benign	Het
Spta1	T	C	1: 174,224,520 (GRCm38)	V1840A	probably benign	Het
Ssb	T	C	2: 69,871,208 (GRCm38)	*416Q	probably null	Het
Strada	A	G	11: 106,168,436 (GRCm38)	V209A	probably benign	Het
Tbc1d31	A	T	15: 57,936,093 (GRCm38)	D225V	probably damaging	Het
Tgm4	T	C	9: 123,056,535 (GRCm38)	F381L	probably benign	Het
Tmem120b	T	A	5: 123,115,144 (GRCm38)	Y203N	probably damaging	Het
Tmem176b	A	G	6: 48,835,934 (GRCm38)	V109A	probably benign	Het
Tnfrsf11a	C	A	1: 105,819,946 (GRCm38)	L201M	possibly damaging	Het
Ttn	C	A	2: 76,974,350 (GRCm38)		probably null	Het
Tubb2a	T	C	13: 34,075,343 (GRCm38)	I155V	probably benign	Het
Vmn1r5	A	G	6: 56,986,114 (GRCm38)	D258G	probably damaging	Het
Vmn2r121	T	C	X: 124,133,575 (GRCm38)	T120A	probably benign	Het
Vmn2r19	A	T	6: 123,329,948 (GRCm38)	I472F	probably damaging	Het
Vwa3a	A	G	7: 120,776,138 (GRCm38)		probably null	Het
Zfp273	A	G	13: 67,822,347 (GRCm38)	Y5C	probably damaging	Het
Zfp647	G	A	15: 76,912,085 (GRCm38)	P125L	probably damaging	Het
Zfp825	A	G	13: 74,480,653 (GRCm38)	L248P	probably damaging	Het

Other mutations in Frs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0310:Frs3	UTSW	17	47,703,822 (GRCm38)	missense	probably benign
R0575:Frs3	UTSW	17	47,703,723 (GRCm38)	missense	possibly damaging	0.89
R0638:Frs3	UTSW	17	47,701,656 (GRCm38)	missense	probably benign	0.00
R1519:Frs3	UTSW	17	47,702,978 (GRCm38)	missense	probably benign
R1668:Frs3	UTSW	17	47,703,222 (GRCm38)	missense	possibly damaging	0.94
R2151:Frs3	UTSW	17	47,703,062 (GRCm38)	missense	probably benign
R2517:Frs3	UTSW	17	47,703,072 (GRCm38)	missense	probably benign	0.10
R3548:Frs3	UTSW	17	47,703,636 (GRCm38)	missense	probably damaging	1.00
R3789:Frs3	UTSW	17	47,699,696 (GRCm38)	critical splice donor site	probably null
R3890:Frs3	UTSW	17	47,703,435 (GRCm38)	missense	probably damaging	0.99
R4981:Frs3	UTSW	17	47,689,262 (GRCm38)	splice site	probably null
R4996:Frs3	UTSW	17	47,701,710 (GRCm38)	missense	probably damaging	1.00
R5479:Frs3	UTSW	17	47,701,710 (GRCm38)	missense	probably damaging	1.00
R5944:Frs3	UTSW	17	47,692,308 (GRCm38)	intron	probably benign
R5990:Frs3	UTSW	17	47,701,677 (GRCm38)	missense	possibly damaging	0.81
R6151:Frs3	UTSW	17	47,689,088 (GRCm38)	start gained	probably benign
R7219:Frs3	UTSW	17	47,702,695 (GRCm38)	missense	probably damaging	1.00
R7359:Frs3	UTSW	17	47,699,525 (GRCm38)	missense	probably damaging	0.98
R7404:Frs3	UTSW	17	47,702,726 (GRCm38)	critical splice donor site	probably null
R7962:Frs3	UTSW	17	47,699,538 (GRCm38)	missense	possibly damaging	0.95
R8021:Frs3	UTSW	17	47,703,114 (GRCm38)	missense	probably damaging	1.00
R8337:Frs3	UTSW	17	47,703,852 (GRCm38)	missense	probably damaging	1.00
R8407:Frs3	UTSW	17	47,698,627 (GRCm38)	missense	probably damaging	1.00
R8976:Frs3	UTSW	17	47,698,621 (GRCm38)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TTGGAAGGATTGCAGGGCAC -3'
(R):5'- AAAGAGCCAGAGTTTCTCCTG -3'

Sequencing Primer
(F):5'- GGCACCTCAAATATGTGTGC -3'
(R):5'- AGAGTTTCTCCTGCCGCC -3'

Posted On

2017-08-16