Mutagenetix > Incidental Mutation

Incidental Mutation 'R2351:Fgr'

246115

Institutional Source

Beutler Lab

Gene Symbol

Fgr

Ensembl Gene

ENSMUSG00000028874

Gene Name

FGR proto-oncogene, Src family tyrosine kinase

Synonyms

Ali18, Mhdaali18

MMRRC Submission

040333-MU

Accession Numbers

Essential gene?

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

Stock #

R2351 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132701406-132729204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 132724548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 255 (R255C)

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: R255C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030693
Gene: ENSMUSG00000028874
AA Change: R255C

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: R255C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128411
Gene: ENSMUSG00000028874
AA Change: R255C

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,779,846 (GRCm39)	Y135*	probably null	Het
Aadacl4fm1	A	T	4: 144,255,348 (GRCm39)	Y256F	probably damaging	Het
Acad10	A	T	5: 121,767,990 (GRCm39)	I820K	probably benign	Het
Arl8b	A	T	6: 108,798,484 (GRCm39)	I178F	possibly damaging	Het
Asap1	A	T	15: 64,007,653 (GRCm39)		probably null	Het
Atp2b2	A	T	6: 113,766,718 (GRCm39)	I552N	possibly damaging	Het
C130074G19Rik	G	T	1: 184,615,060 (GRCm39)	D43E	probably benign	Het
Ccdc162	C	A	10: 41,431,968 (GRCm39)		probably null	Het
Ccdc186	T	G	19: 56,787,129 (GRCm39)	K613T	possibly damaging	Het
Cggbp1	T	A	16: 64,676,046 (GRCm39)	D37E	possibly damaging	Het
Cntn3	A	T	6: 102,314,344 (GRCm39)	N123K	possibly damaging	Het
Col18a1	C	T	10: 76,948,538 (GRCm39)	G325S	probably benign	Het
Cwc25	G	T	11: 97,638,218 (GRCm39)	T405K	probably damaging	Het
Cyp4a31	T	C	4: 115,428,510 (GRCm39)	V370A	possibly damaging	Het
Cyp4f13	T	G	17: 33,144,570 (GRCm39)	I309L	probably benign	Het
Dap3	A	T	3: 88,840,870 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,403,301 (GRCm39)	D3080E	probably benign	Het
Ern2	A	G	7: 121,770,731 (GRCm39)	V762A	probably damaging	Het
Gcm2	A	T	13: 41,257,094 (GRCm39)	D218E	probably benign	Het
Gfi1	A	G	5: 107,869,640 (GRCm39)	S131P	probably damaging	Het
Grm8	A	T	6: 28,126,118 (GRCm39)	C3S	possibly damaging	Het
Gucy2d	A	G	7: 98,113,226 (GRCm39)	D840G	probably benign	Het
H3f3a	T	C	1: 180,637,723 (GRCm39)	T81A	probably benign	Het
Igsf23	C	T	7: 19,678,723 (GRCm39)	W22*	probably null	Het
Il12rb2	G	A	6: 67,338,928 (GRCm39)	Q3*	probably null	Het
Ino80d	A	T	1: 63,124,994 (GRCm39)	L156H	probably benign	Het
Kdm2a	G	A	19: 4,379,154 (GRCm39)	P554S	probably benign	Het
Lefty1	T	A	1: 180,764,807 (GRCm39)	L244H	possibly damaging	Het
Mdn1	T	A	4: 32,750,010 (GRCm39)	S4398T	probably benign	Het
Myh10	A	G	11: 68,683,965 (GRCm39)	D1126G	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myom1	A	T	17: 71,341,574 (GRCm39)	D111V	probably damaging	Het
Naip6	T	A	13: 100,420,169 (GRCm39)	D1367V	probably damaging	Het
Nbeal1	A	T	1: 60,276,257 (GRCm39)	H666L	possibly damaging	Het
Nsmaf	T	A	4: 6,437,921 (GRCm39)	I77F	probably damaging	Het
Nvl	T	C	1: 180,958,357 (GRCm39)	T231A	probably benign	Het
Obscn	T	C	11: 59,003,438 (GRCm39)	R1287G	probably damaging	Het
Opn3	T	C	1: 175,520,077 (GRCm39)	D9G	probably benign	Het
Or4a81	T	C	2: 89,619,522 (GRCm39)	Y58C	probably damaging	Het
Or4c114	C	T	2: 88,904,743 (GRCm39)	G231S	possibly damaging	Het
Or6a2	A	T	7: 106,600,883 (GRCm39)	Y61*	probably null	Het
Or6c8b	A	G	10: 128,882,797 (GRCm39)	V45A	probably benign	Het
Or6k2	T	A	1: 173,986,486 (GRCm39)	V49D	probably damaging	Het
Or8k24	C	T	2: 86,216,471 (GRCm39)	C97Y	probably damaging	Het
Parp10	A	T	15: 76,127,056 (GRCm39)	S101R	probably benign	Het
Pdhx	T	A	2: 102,854,562 (GRCm39)	K399*	probably null	Het
Pdia4	A	T	6: 47,773,848 (GRCm39)		probably null	Het
Pla2g4f	T	C	2: 120,130,923 (GRCm39)	D844G	probably benign	Het
Prtg	C	A	9: 72,764,106 (GRCm39)	D526E	probably damaging	Het
Rassf6	T	C	5: 90,779,418 (GRCm39)	D5G	probably benign	Het
Riok3	C	T	18: 12,282,724 (GRCm39)	Q388*	probably null	Het
Robo4	T	A	9: 37,322,956 (GRCm39)	F825L	probably benign	Het
Rpl13a-ps1	C	T	19: 50,018,868 (GRCm39)	E103K	probably benign	Het
Rpl18a	A	T	8: 71,348,864 (GRCm39)	H37Q	probably benign	Het
Ryr1	A	T	7: 28,774,718 (GRCm39)	S2301T	probably benign	Het
Slc39a9	T	A	12: 80,691,660 (GRCm39)	D2E	possibly damaging	Het
Slco5a1	C	T	1: 13,060,158 (GRCm39)	V188I	probably benign	Het
Son	T	A	16: 91,454,547 (GRCm39)	M1098K	probably damaging	Het
Spag9	A	G	11: 93,983,726 (GRCm39)	D701G	probably damaging	Het
Ssmem1	T	C	6: 30,512,495 (GRCm39)	F46S	possibly damaging	Het
Sspo	C	T	6: 48,441,803 (GRCm39)	R1938W	probably damaging	Het
Sstr3	T	C	15: 78,424,121 (GRCm39)	I209V	probably benign	Het
Tlk2	A	G	11: 105,100,656 (GRCm39)	Y87C	probably damaging	Het
Traf4	G	A	11: 78,051,002 (GRCm39)	R385W	probably damaging	Het
Triobp	G	A	15: 78,888,780 (GRCm39)	V1962M	probably benign	Het
Tspan12	T	G	6: 21,835,506 (GRCm39)	I56L	probably benign	Het
Upp2	T	A	2: 58,653,674 (GRCm39)		probably null	Het
Vps13b	T	C	15: 35,869,457 (GRCm39)	W2654R	probably damaging	Het
Zc3h18	C	T	8: 123,129,926 (GRCm39)	R435*	probably null	Het
Zfta	T	C	19: 7,399,609 (GRCm39)	I247T	probably 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
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
R5388:Fgr	UTSW	4	132,722,342 (GRCm39)	missense	probably damaging	1.00
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'- TGCGTTTCGGAGAGAGTATC -3'
(R):5'- ATGATCTGTGCCTCCTCCAG -3'

Sequencing Primer
(F):5'- TGCGTTTCGGAGAGAGTATCCATAAC -3'
(R):5'- AATGCCTTCGGGGACATG -3'

Posted On

2014-10-30