Mutagenetix > Incidental Mutation

Incidental Mutation 'R5388:Fgr'

425398

Institutional Source

Beutler Lab

Gene Symbol

Fgr

Ensembl Gene

ENSMUSG00000028874

Gene Name

FGR proto-oncogene, Src family tyrosine kinase

Synonyms

Ali18, Mhdaali18

MMRRC Submission

042960-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R5388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132701406-132729204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132722342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 204 (F204L)

Ref Sequence

ENSEMBL: ENSMUSP00000128411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030693] [ENSMUST00000171223]

AlphaFold

P14234

Predicted Effect

probably damaging
Transcript: ENSMUST00000030693
AA Change: F204L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030693
Gene: ENSMUSG00000028874
AA Change: F204L

Domain	Start	End	E-Value	Type
SH3	68	125	5.39e-22	SMART
SH2	130	220	5.25e-36	SMART
TyrKc	251	500	5.5e-126	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138179

Predicted Effect

probably damaging
Transcript: ENSMUST00000171223
AA Change: F204L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128411
Gene: ENSMUSG00000028874
AA Change: F204L

Domain	Start	End	E-Value	Type
SH3	68	125	5.39e-22	SMART
SH2	130	220	5.25e-36	SMART
TyrKc	251	500	5.5e-126	SMART

Meta Mutation Damage Score

0.9543

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a partial reduction in hemorrhage following induction of a local Shwartzman reaction, and show enhanced NK-cell receptor-induced IFN-gamma production in natural killer (NK) cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,139,969 (GRCm39)		probably null	Het
Acap2	C	A	16: 30,928,543 (GRCm39)	C475F	probably damaging	Het
Ace	C	A	11: 105,879,284 (GRCm39)	P603Q	possibly damaging	Het
Adamts20	C	G	15: 94,243,659 (GRCm39)	V657L	possibly damaging	Het
Antxr2	A	G	5: 98,125,458 (GRCm39)		probably null	Het
Atp6v1b2	G	A	8: 69,554,089 (GRCm39)	V89I	probably benign	Het
Cacna1e	G	A	1: 154,353,542 (GRCm39)	P676L	probably damaging	Het
Camsap3	A	T	8: 3,654,276 (GRCm39)	I649F	probably damaging	Het
Camta1	G	T	4: 151,159,695 (GRCm39)	S490R	probably damaging	Het
Celsr1	A	G	15: 85,809,719 (GRCm39)	I2221T	probably damaging	Het
Cfd	A	T	10: 79,727,959 (GRCm39)	D164V	probably damaging	Het
Cfdp1	T	C	8: 112,495,384 (GRCm39)	D278G	probably damaging	Het
Cntn6	A	T	6: 104,809,523 (GRCm39)	L519F	probably damaging	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Cybrd1	T	C	2: 70,967,989 (GRCm39)		probably null	Het
Cyp2e1	T	C	7: 140,343,906 (GRCm39)	L48P	probably damaging	Het
Eddm13	T	C	7: 6,269,346 (GRCm39)		probably null	Het
Ep400	G	A	5: 110,849,594 (GRCm39)	T1409I	unknown	Het
Exosc7	A	T	9: 122,947,972 (GRCm39)	D47V	probably damaging	Het
Gm10100	G	A	10: 77,562,560 (GRCm39)	V81M	probably benign	Het
Gm12367	T	C	4: 35,235,690 (GRCm39)		noncoding transcript	Het
Grxcr1	C	A	5: 68,323,538 (GRCm39)	T272K	probably damaging	Het
Kcna5	C	T	6: 126,511,859 (GRCm39)	D90N	probably benign	Het
Kdm5b	T	A	1: 134,536,635 (GRCm39)	Y618*	probably null	Het
Lama5	T	A	2: 179,832,539 (GRCm39)	H1670L	possibly damaging	Het
Mtus2	C	T	5: 148,243,518 (GRCm39)	Q113*	probably null	Het
Ncam1	A	C	9: 49,456,054 (GRCm39)	D521E	probably benign	Het
Nkapl	T	C	13: 21,651,740 (GRCm39)	H291R	possibly damaging	Het
Nlrp1b	T	G	11: 71,062,967 (GRCm39)	N695H	probably damaging	Het
Npc1l1	T	A	11: 6,164,733 (GRCm39)	Q1105H	probably damaging	Het
Paxip1	C	G	5: 27,986,453 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,583,695 (GRCm39)	W136R	probably damaging	Het
Pira1	T	C	7: 3,741,856 (GRCm39)	T175A	possibly damaging	Het
Pkn3	T	A	2: 29,971,086 (GRCm39)	S222T	probably damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppfibp1	T	A	6: 146,898,338 (GRCm39)	I98N	probably damaging	Het
Ppfibp1	T	G	6: 146,917,828 (GRCm39)	S484A	probably damaging	Het
Ppp1r7	T	C	1: 93,280,312 (GRCm39)	F127L	probably damaging	Het
Pramel1	T	C	4: 143,123,954 (GRCm39)	Y210H	probably benign	Het
Rad21l	C	T	2: 151,495,403 (GRCm39)	V427I	probably benign	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
Rnf225	A	G	7: 12,661,932 (GRCm39)	D37G	probably damaging	Het
Smpd2	A	G	10: 41,363,967 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,119,561 (GRCm39)	Q4483R	probably damaging	Het
Tmem38b	C	T	4: 53,859,945 (GRCm39)	R242W	probably benign	Het
Topaz1	A	T	9: 122,603,158 (GRCm39)	K1035I	possibly damaging	Het
Trhr	T	C	15: 44,060,873 (GRCm39)	I131T	possibly damaging	Het
Usp1	A	G	4: 98,819,294 (GRCm39)	D252G	probably benign	Het
Usp14	C	T	18: 10,018,023 (GRCm39)	E90K	probably damaging	Het
Yme1l1	T	G	2: 23,052,569 (GRCm39)	D74E	probably benign	Het
Ythdc2	T	A	18: 44,990,092 (GRCm39)	L732Q	possibly damaging	Het
Zbbx	G	T	3: 74,990,977 (GRCm39)	A289D	probably damaging	Het
Zfhx3	G	A	8: 109,673,446 (GRCm39)	V1499I	possibly damaging	Het
Zfp622	T	C	15: 25,996,285 (GRCm39)	V184A	possibly damaging	Het

Other mutations in Fgr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02201:Fgr	APN	4	132,722,235 (GRCm39)	missense	probably damaging	0.99
IGL03089:Fgr	APN	4	132,713,577 (GRCm39)	missense	probably damaging	0.96
R1760:Fgr	UTSW	4	132,725,653 (GRCm39)	missense	possibly damaging	0.72
R1957:Fgr	UTSW	4	132,725,673 (GRCm39)	missense	probably benign
R2011:Fgr	UTSW	4	132,724,832 (GRCm39)	missense	probably damaging	1.00
R2109:Fgr	UTSW	4	132,725,786 (GRCm39)	missense	probably benign	0.32
R2351:Fgr	UTSW	4	132,724,548 (GRCm39)	missense	probably damaging	0.99
R2941:Fgr	UTSW	4	132,725,734 (GRCm39)	missense	probably benign
R3034:Fgr	UTSW	4	132,725,807 (GRCm39)	critical splice donor site	probably null
R4590:Fgr	UTSW	4	132,722,364 (GRCm39)	missense	probably damaging	1.00
R4770:Fgr	UTSW	4	132,714,602 (GRCm39)	missense	probably damaging	0.99
R4847:Fgr	UTSW	4	132,721,959 (GRCm39)	missense	probably damaging	1.00
R5294:Fgr	UTSW	4	132,724,811 (GRCm39)	missense	probably benign	0.01
R5384:Fgr	UTSW	4	132,713,664 (GRCm39)	critical splice donor site	probably null
R5650:Fgr	UTSW	4	132,727,533 (GRCm39)	missense	probably benign	0.13
R6947:Fgr	UTSW	4	132,722,380 (GRCm39)	critical splice donor site	probably null
R7651:Fgr	UTSW	4	132,722,324 (GRCm39)	missense	probably damaging	1.00
R7686:Fgr	UTSW	4	132,725,324 (GRCm39)	missense	probably benign
R7921:Fgr	UTSW	4	132,713,832 (GRCm39)	splice site	probably null
R8011:Fgr	UTSW	4	132,725,790 (GRCm39)	missense	probably damaging	1.00
R8238:Fgr	UTSW	4	132,724,832 (GRCm39)	missense	probably damaging	1.00
R8742:Fgr	UTSW	4	132,724,828 (GRCm39)	missense	probably damaging	1.00
R8876:Fgr	UTSW	4	132,726,071 (GRCm39)	intron	probably benign
R8884:Fgr	UTSW	4	132,713,609 (GRCm39)	missense	probably benign	0.01
Z1176:Fgr	UTSW	4	132,727,481 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- TAAGCTGGGCTCTGGGAATTC -3'
(R):5'- GCAAGATTAGGAGGCATTGCTTG -3'

Sequencing Primer
(F):5'- GAATTCCTTTGGGGGCCTCC -3'
(R):5'- TGCTCTCCGTCTGCTCAG -3'

Posted On

2016-08-04