Mutagenetix > Incidental Mutation

Incidental Mutation 'R6151:Frs3'

489307

Institutional Source

Beutler Lab

Gene Symbol

Frs3

Ensembl Gene

ENSMUSG00000023266

Gene Name

fibroblast growth factor receptor substrate 3

Synonyms

4930417B13Rik, SNT2, Frs2beta

MMRRC Submission

044298-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.612) question?

Stock #

R6151 (G1)

Quality Score

97.0078

Status

Not validated

Chromosome

Chromosomal Location

47689030-47704286 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 47689088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024779] [ENSMUST00000113299] [ENSMUST00000113300] [ENSMUST00000113301] [ENSMUST00000113302] [ENSMUST00000143789] [ENSMUST00000156118]

AlphaFold

Q91WJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000024779

SMART Domains

Protein: ENSMUSP00000024779
Gene: ENSMUSG00000090115

Domain	Start	End	E-Value	Type
ZnF_UBP	25	74	4.21e-17	SMART
coiled coil region	165	203	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
Pfam:UCH	249	651	5.4e-61	PFAM
Pfam:UCH_1	337	633	3.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113299

SMART Domains

Protein: ENSMUSP00000108924
Gene: ENSMUSG00000096549

Domain	Start	End	E-Value	Type
Pfam:PET	22	74	2.7e-13	PFAM
LIM	83	140	1.56e-7	SMART
LIM	148	200	1.28e-12	SMART
low complexity region	207	221	N/A	INTRINSIC
low complexity region	282	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113300

SMART Domains

Protein: ENSMUSP00000108925
Gene: ENSMUSG00000096549

Domain	Start	End	E-Value	Type
Pfam:PET	62	114	6e-13	PFAM
LIM	123	180	1.56e-7	SMART
LIM	188	240	1.28e-12	SMART
low complexity region	247	261	N/A	INTRINSIC
low complexity region	322	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113301

SMART Domains

Protein: ENSMUSP00000108926
Gene: ENSMUSG00000033475

Domain	Start	End	E-Value	Type
Pfam:TOMM6	1	74	4.1e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113302

SMART Domains

Protein: ENSMUSP00000108927
Gene: ENSMUSG00000033475

Domain	Start	End	E-Value	Type
Pfam:TOM6p	1	74	5.2e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143156

Predicted Effect

probably benign
Transcript: ENSMUST00000143789

SMART Domains

Protein: ENSMUSP00000119045
Gene: ENSMUSG00000079444

Domain	Start	End	E-Value	Type
Pfam:PET	66	116	8.6e-12	PFAM
LIM	123	180	1.56e-7	SMART
LIM	188	240	1.28e-12	SMART
low complexity region	247	261	N/A	INTRINSIC
low complexity region	322	336	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151540

Predicted Effect

probably benign
Transcript: ENSMUST00000152214

SMART Domains

Protein: ENSMUSP00000121465
Gene: ENSMUSG00000096549

Domain	Start	End	E-Value	Type
Pfam:PET	3	50	7.4e-14	PFAM
LIM	59	116	1.56e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155812

Predicted Effect

probably benign
Transcript: ENSMUST00000156118

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	T	13: 66,431,681 (GRCm38)	C248S	probably damaging	Het
3110009E18Rik	A	G	1: 120,171,486 (GRCm38)		probably null	Het
4930550C14Rik	G	T	9: 53,414,383 (GRCm38)	R73S	probably damaging	Het
Abca1	A	G	4: 53,085,261 (GRCm38)	V517A	probably benign	Het
Adck5	A	T	15: 76,594,687 (GRCm38)	K370N	possibly damaging	Het
Akap6	A	C	12: 53,025,792 (GRCm38)	D981A	probably damaging	Het
Apbb1	G	A	7: 105,574,252 (GRCm38)	R51*	probably null	Het
Arhgap23	A	G	11: 97,500,412 (GRCm38)	M1252V	probably benign	Het
Arhgef1	A	G	7: 24,917,942 (GRCm38)	T354A	probably benign	Het
Arid1a	G	T	4: 133,684,976 (GRCm38)	Q1636K	unknown	Het
Asmt	C	T	X: 170,676,467 (GRCm38)	A237V	possibly damaging	Het
Brat1	T	A	5: 140,705,961 (GRCm38)	C43S	probably benign	Het
Cd36	T	C	5: 17,795,595 (GRCm38)	Y370C	probably damaging	Het
Ceacam12	A	T	7: 18,069,105 (GRCm38)	L145F	probably benign	Het
Col24a1	C	T	3: 145,314,054 (GRCm38)	T62I	probably damaging	Het
Col6a3	G	T	1: 90,813,753 (GRCm38)	N652K	possibly damaging	Het
Dcbld1	T	C	10: 52,304,660 (GRCm38)	L140P	probably damaging	Het
Dhrs13	G	A	11: 78,036,982 (GRCm38)	C218Y	probably damaging	Het
Diaph1	T	G	18: 37,853,353 (GRCm38)	E1158A	probably damaging	Het
Emp2	A	C	16: 10,292,281 (GRCm38)	F20C	probably damaging	Het
Enpep	T	C	3: 129,332,418 (GRCm38)	I22V	possibly damaging	Het
Epha2	A	G	4: 141,318,480 (GRCm38)		probably null	Het
Eprs	G	T	1: 185,407,754 (GRCm38)		probably null	Het
Etl4	T	A	2: 20,713,360 (GRCm38)	I304N	probably damaging	Het
Exoc3l2	C	A	7: 19,491,745 (GRCm38)	S89*	probably null	Het
F5	G	A	1: 164,190,187 (GRCm38)	C611Y	probably damaging	Het
F5	A	T	1: 164,181,635 (GRCm38)	I325F	probably damaging	Het
Fam133b	A	T	5: 3,559,133 (GRCm38)	S116C	probably null	Het
Fam13b	A	T	18: 34,494,277 (GRCm38)	D190E	probably damaging	Het
Fam169a	T	G	13: 97,093,630 (GRCm38)	Y58D	probably damaging	Het
Far1	G	A	7: 113,561,396 (GRCm38)	R383H	possibly damaging	Het
Fnbp1l	T	C	3: 122,570,930 (GRCm38)	K52R	possibly damaging	Het
Foxj3	C	A	4: 119,623,271 (GRCm38)	Q469K	unknown	Het
Gdpd3	A	G	7: 126,775,502 (GRCm38)	S290G	probably benign	Het
Gm6768	T	G	12: 119,261,106 (GRCm38)		noncoding transcript	Het
Gmip	T	A	8: 69,817,085 (GRCm38)	L610Q	probably damaging	Het
Gprc5c	T	A	11: 114,864,025 (GRCm38)	I176N	probably damaging	Het
Grm3	A	G	5: 9,511,556 (GRCm38)	F765L	probably damaging	Het
Hhat	A	T	1: 192,759,757 (GRCm38)	L2Q	probably damaging	Het
Hrasls5	C	T	19: 7,619,291 (GRCm38)	P148S	probably damaging	Het
Hspbap1	T	C	16: 35,817,222 (GRCm38)	S214P	probably damaging	Het
Ighv1-62-3	C	A	12: 115,461,289 (GRCm38)	V21F	probably damaging	Het
Kcnj15	A	T	16: 95,295,668 (GRCm38)	K50*	probably null	Het
Kidins220	T	C	12: 25,056,909 (GRCm38)	S1454P	possibly damaging	Het
Kl	T	A	5: 150,988,853 (GRCm38)	M689K	possibly damaging	Het
Klhl23	T	G	2: 69,824,854 (GRCm38)	L356R	probably damaging	Het
Kndc1	A	T	7: 139,921,213 (GRCm38)	D806V	probably benign	Het
Krt26	T	C	11: 99,337,489 (GRCm38)	E139G	probably benign	Het
Lefty1	T	C	1: 180,935,116 (GRCm38)	F3L	unknown	Het
Madd	A	C	2: 91,165,457 (GRCm38)	Y853*	probably null	Het
Map1a	T	A	2: 121,289,823 (GRCm38)	D63E	probably benign	Het
Mdn1	T	A	4: 32,684,735 (GRCm38)	V815E	probably damaging	Het
Mettl3	A	G	14: 52,295,020 (GRCm38)	Y569H	probably damaging	Het
Mknk2	T	C	10: 80,669,025 (GRCm38)		probably null	Het
Mpp3	C	A	11: 102,008,566 (GRCm38)	R376S	probably benign	Het
Nup160	T	A	2: 90,690,105 (GRCm38)	Y293*	probably null	Het
Nupl1	A	T	14: 60,244,616 (GRCm38)	F100I	possibly damaging	Het
Nxpe2	A	C	9: 48,326,191 (GRCm38)	L255V	probably benign	Het
Olfr1423	T	C	19: 12,036,736 (GRCm38)	E2G	probably benign	Het
Olfr167	A	T	16: 19,515,531 (GRCm38)	L35Q	probably damaging	Het
Olfr390	T	A	11: 73,787,695 (GRCm38)	Y252*	probably null	Het
Olfr479	A	G	7: 108,055,899 (GRCm38)	I306V	probably benign	Het
Padi3	A	T	4: 140,796,394 (GRCm38)	D248E	probably damaging	Het
Paxip1	G	T	5: 27,761,618 (GRCm38)	H637N	probably damaging	Het
Pde4b	T	A	4: 102,601,551 (GRCm38)	M296K	probably damaging	Het
Pkd1	A	G	17: 24,575,606 (GRCm38)	H2089R	probably benign	Het
Prpf40a	T	C	2: 53,157,915 (GRCm38)	M197V	probably benign	Het
Rhebl1	T	C	15: 98,878,279 (GRCm38)	I165V	probably benign	Het
Rock1	A	T	18: 10,106,426 (GRCm38)	V481E	possibly damaging	Het
Rtca	T	A	3: 116,507,827 (GRCm38)	T24S	probably benign	Het
Serpina3c	T	A	12: 104,152,068 (GRCm38)	I4F	possibly damaging	Het
Serpina3j	C	A	12: 104,317,390 (GRCm38)	A249E	possibly damaging	Het
Slc38a9	A	G	13: 112,689,376 (GRCm38)	N116S	probably damaging	Het
Slco2b1	C	T	7: 99,690,563 (GRCm38)	V58I	possibly damaging	Het
Slfn8	T	A	11: 83,017,321 (GRCm38)	Y132F	probably damaging	Het
Smg6	T	G	11: 75,156,207 (GRCm38)	I1242S	probably damaging	Het
Tap2	G	T	17: 34,212,047 (GRCm38)	V374L	probably benign	Het
Tbc1d10b	G	A	7: 127,207,996 (GRCm38)	T123M	probably damaging	Het
Tenm2	A	C	11: 36,008,783 (GRCm38)	V2516G	probably damaging	Het
Tenm3	C	T	8: 48,395,573 (GRCm38)	R12Q	probably damaging	Het
Tmem130	T	A	5: 144,737,851 (GRCm38)	M355L	probably benign	Het
Tns4	C	T	11: 99,075,550 (GRCm38)	S433N	probably benign	Het
Traip	G	T	9: 107,970,619 (GRCm38)		probably null	Het
Trmo	G	A	4: 46,389,390 (GRCm38)	R2C	probably damaging	Het
Ttn	A	T	2: 76,944,160 (GRCm38)	I2134N	probably damaging	Het
Uba1y	A	G	Y: 825,984 (GRCm38)	D380G	probably benign	Het
Ube2t	T	A	1: 134,967,960 (GRCm38)		probably null	Het
Ugdh	A	T	5: 65,417,581 (GRCm38)	Y367*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm38)	D331A	probably damaging	Het
Vmn1r84	G	T	7: 12,361,914 (GRCm38)	T284K	possibly damaging	Het
Vmn1r91	T	A	7: 20,101,435 (GRCm38)	F93Y	probably benign	Het
Vmn2r77	T	A	7: 86,801,670 (GRCm38)	Y255N	probably benign	Het
Vmn2r96	A	T	17: 18,583,959 (GRCm38)	Q490H	probably benign	Het
Vwa2	A	G	19: 56,903,465 (GRCm38)		probably null	Het
Vwf	A	G	6: 125,657,065 (GRCm38)	K169E	unknown	Het
Zc3h7b	G	C	15: 81,778,710 (GRCm38)		probably null	Het
Zfp458	T	A	13: 67,257,598 (GRCm38)	H259L	possibly damaging	Het
Zfp647	G	A	15: 76,912,085 (GRCm38)	P125L	probably damaging	Het
Zfp804b	A	G	5: 6,769,910 (GRCm38)	V1051A	probably benign	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
R6102:Frs3	UTSW	17	47,702,671 (GRCm38)	missense	probably damaging	1.00
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

Posted On

2017-10-10