Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Possibly essential (E-score: 0.506) 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

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]

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	I290T	possibly damaging	Het
Apeh	T	A	9: 108,086,439	D559V	probably damaging	Het
Aspm	T	A	1: 139,477,459	Y1361*	probably null	Het
Atad5	G	T	11: 80,111,572		probably null	Het
Ccr4	C	T	9: 114,496,493		probably null	Het
Clasrp	G	A	7: 19,586,468		probably benign	Het
Cldn23	A	G	8: 35,825,551	M261T	probably benign	Het
Cmya5	T	C	13: 93,094,231	M1450V	probably benign	Het
Cyp4v3	T	A	8: 45,320,160	E202V	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Dnah9	A	G	11: 65,990,516	S2578P	probably damaging	Het
Dsc2	T	A	18: 20,047,108	Y196F	probably benign	Het
Exoc1	T	C	5: 76,537,779	S113P	probably damaging	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Ginm1	G	T	10: 7,768,496	T323K	probably benign	Het
Golgb1	T	C	16: 36,912,865	S825P	probably damaging	Het
Hs3st3b1	A	T	11: 63,921,855	C11*	probably null	Het
Ighv3-3	G	C	12: 114,196,460	A110G	possibly damaging	Het
Igkv6-20	G	A	6: 70,335,869	H107Y	probably benign	Het
Kcnj16	A	G	11: 111,025,577	E355G	probably benign	Het
Lig4	C	T	8: 9,972,872	G303S	probably damaging	Het
Map1b	A	C	13: 99,425,873	V2443G	unknown	Het
Map3k6	T	C	4: 133,247,131		probably null	Het
Mmp13	A	G	9: 7,276,688	Q261R	probably benign	Het
Mphosph9	T	A	5: 124,297,709	I554F	possibly damaging	Het
Mrgpra3	A	T	7: 47,590,149	F10I	possibly damaging	Het
Ms4a18	G	A	19: 11,013,523	T69I	probably benign	Het
Mtmr3	T	C	11: 4,487,673	N927S	probably damaging	Het
Necab1	T	A	4: 14,989,211	Q188L	probably benign	Het
Nfatc2	A	G	2: 168,519,507		probably benign	Het
Olfr152	T	C	2: 87,782,848	F103L	probably damaging	Het
Olfr495	T	C	7: 108,395,284	S55P	probably damaging	Het
Olfr854	T	C	9: 19,567,022	M121V	possibly damaging	Het
Paip2b	A	C	6: 83,808,846	V134G	possibly damaging	Het
Pax3	T	C	1: 78,132,347	T225A	probably damaging	Het
Pbx1	C	A	1: 168,183,565	A298S	probably benign	Het
Pcdhac2	A	T	18: 37,146,282	K772*	probably null	Het
Pcsk4	A	T	10: 80,325,817	Y163*	probably null	Het
Plcd3	A	G	11: 103,080,644	V58A	probably damaging	Het
Plek2	T	A	12: 78,900,093	T57S	possibly damaging	Het
Plscr2	C	T	9: 92,287,668	T57I	probably benign	Het
Ppp2r5b	A	G	19: 6,234,738	S32P	probably benign	Het
Ppp3r2	C	T	4: 49,682,022		probably benign	Het
Psme4	T	A	11: 30,865,567	L1693H	probably damaging	Het
Rrbp1	T	A	2: 143,988,393	Q618L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Serpina3b	A	T	12: 104,134,169	T337S	probably benign	Het
Slc18a2	T	C	19: 59,293,878	Y506H	probably benign	Het
Slc9a9	A	G	9: 94,936,429	Y292C	probably benign	Het
Spta1	T	C	1: 174,224,520	V1840A	probably benign	Het
Ssb	T	C	2: 69,871,208	*416Q	probably null	Het
Strada	A	G	11: 106,168,436	V209A	probably benign	Het
Tbc1d31	A	T	15: 57,936,093	D225V	probably damaging	Het
Tgm4	T	C	9: 123,056,535	F381L	probably benign	Het
Tmem120b	T	A	5: 123,115,144	Y203N	probably damaging	Het
Tmem176b	A	G	6: 48,835,934	V109A	probably benign	Het
Tnfrsf11a	C	A	1: 105,819,946	L201M	possibly damaging	Het
Ttn	C	A	2: 76,974,350		probably null	Het
Tubb2a	T	C	13: 34,075,343	I155V	probably benign	Het
Vmn1r5	A	G	6: 56,986,114	D258G	probably damaging	Het
Vmn2r121	T	C	X: 124,133,575	T120A	probably benign	Het
Vmn2r19	A	T	6: 123,329,948	I472F	probably damaging	Het
Vwa3a	A	G	7: 120,776,138		probably null	Het
Zfp273	A	G	13: 67,822,347	Y5C	probably damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp825	A	G	13: 74,480,653	L248P	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
R2517:Frs3	UTSW	17	47703072	missense	probably benign	0.10
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	splice site	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
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
R7962:Frs3	UTSW	17	47699538	missense	possibly damaging	0.95
R8021:Frs3	UTSW	17	47703114	missense	probably damaging	1.00
R8337:Frs3	UTSW	17	47703852	missense	probably damaging	1.00
R8407:Frs3	UTSW	17	47698627	missense	probably damaging	1.00

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