Mutagenetix > Incidental Mutation

Incidental Mutation 'R4852:Fgfr4'

373660

Institutional Source

Beutler Lab

Gene Symbol

Fgfr4

Ensembl Gene

ENSMUSG00000005320

Gene Name

fibroblast growth factor receptor 4

Synonyms

Fgfr-4

MMRRC Submission

042464-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4852 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

55300631-55316572 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55308969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 363 (R363S)

Ref Sequence

ENSEMBL: ENSMUSP00000005452 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005452]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005452
AA Change: R363S

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000005452
Gene: ENSMUSG00000005320
AA Change: R363S

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IGc2	45	105	1.39e-11	SMART
IGc2	160	228	3.1e-18	SMART
IGc2	259	337	1.59e-6	SMART
low complexity region	369	387	N/A	INTRINSIC
low complexity region	416	446	N/A	INTRINSIC
TyrKc	464	740	1.67e-148	SMART
low complexity region	764	795	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162967

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. The genomic organization of this gene, compared to members 1-3, encompasses 18 exons rather than 19 or 20. Although alternative splicing has been observed, there is no evidence that the C-terminal half of the IgIII domain of this protein varies between three alternate forms, as indicated for members 1-3. This particular family member preferentially binds acidic fibroblast growth factor and, although its specific function is unknown, it is overexpressed in gynecological tumor samples, suggesting a role in breast and ovarian tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted mutation are viable, healthy and overtly normal, except for a 10% weight reduction at weaning. Mice doubly homozygous for disruptions of Fgfr3 and Fgfr4 show novel phenotypes not seen in either single mutant, including dwarfismand defective respiratory alveogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4921524L21Rik	C	G	18: 6,623,487 (GRCm39)	L66V	possibly damaging	Het
4921524L21Rik	T	A	18: 6,623,488 (GRCm39)	L66Q	probably damaging	Het
Abca6	A	G	11: 110,135,029 (GRCm39)	V252A	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acap1	C	T	11: 69,775,202 (GRCm39)	V354M	probably benign	Het
Accs	T	C	2: 93,674,605 (GRCm39)	D99G	probably damaging	Het
Adam9	T	C	8: 25,493,317 (GRCm39)	Y97C	probably damaging	Het
Akap6	T	C	12: 53,151,458 (GRCm39)	V1174A	probably damaging	Het
Aknad1	C	A	3: 108,659,056 (GRCm39)	D23E	probably damaging	Het
Ano2	T	C	6: 125,959,886 (GRCm39)	C666R	possibly damaging	Het
Atp4a	G	A	7: 30,423,693 (GRCm39)	A933T	probably benign	Het
Atxn2	T	C	5: 121,952,474 (GRCm39)	L224P	probably damaging	Het
Bin2	T	C	15: 100,543,169 (GRCm39)	E338G	probably damaging	Het
Bloc1s5	T	C	13: 38,818,960 (GRCm39)	K20E	probably damaging	Het
Bst1	A	T	5: 43,977,867 (GRCm39)	D72V	probably benign	Het
Cacna1i	T	C	15: 80,272,680 (GRCm39)	F1631L	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Cfap43	A	G	19: 47,885,550 (GRCm39)	I355T	possibly damaging	Het
Chuk	A	T	19: 44,077,197 (GRCm39)	M383K	possibly damaging	Het
Cnga4	A	G	7: 105,054,937 (GRCm39)	I174V	probably benign	Het
Cpd	T	C	11: 76,675,976 (GRCm39)	K1226E	probably benign	Het
Crip2	T	C	12: 113,104,204 (GRCm39)	C5R	probably damaging	Het
Cyp3a11	T	A	5: 145,797,305 (GRCm39)	D358V	probably damaging	Het
Ebag9	T	C	15: 44,487,915 (GRCm39)	F21S	probably damaging	Het
Ercc1	A	T	7: 19,084,629 (GRCm39)	H70L	probably damaging	Het
Exoc3	G	A	13: 74,347,764 (GRCm39)	R69C	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm7489	T	A	15: 53,749,434 (GRCm39)		probably benign	Het
Gphn	G	A	12: 78,673,984 (GRCm39)	V526M	probably damaging	Het
Gpr152	G	A	19: 4,193,790 (GRCm39)	V444I	probably benign	Het
Gss	T	C	2: 155,406,785 (GRCm39)	E330G	probably benign	Het
Hbs1l	A	G	10: 21,234,287 (GRCm39)	D556G	possibly damaging	Het
Helz2	T	C	2: 180,871,913 (GRCm39)	T2619A	probably damaging	Het
Hk3	A	G	13: 55,160,409 (GRCm39)	F304L	probably damaging	Het
Itgad	A	T	7: 127,797,702 (GRCm39)	N906Y	probably damaging	Het
Jakmip2	T	C	18: 43,710,465 (GRCm39)	E246G	probably damaging	Het
L3mbtl4	A	T	17: 68,866,748 (GRCm39)	H329L	probably damaging	Het
Mau2	A	G	8: 70,485,827 (GRCm39)		probably null	Het
Myo16	T	C	8: 10,423,474 (GRCm39)	L270P	probably damaging	Het
Naa25	T	C	5: 121,568,755 (GRCm39)	S606P	probably damaging	Het
Nags	T	A	11: 102,037,447 (GRCm39)	C179*	probably null	Het
Naip2	A	G	13: 100,298,044 (GRCm39)	M664T	probably benign	Het
Ndufv3	T	C	17: 31,747,043 (GRCm39)	I311T	probably benign	Het
Nipsnap1	G	T	11: 4,841,468 (GRCm39)	E258*	probably null	Het
Nudc	A	G	4: 133,261,660 (GRCm39)	L208P	probably damaging	Het
Or1e32	T	C	11: 73,705,074 (GRCm39)	Y278C	probably benign	Het
Or51a39	A	T	7: 102,362,750 (GRCm39)	V290E	probably damaging	Het
Oscp1	A	G	4: 125,970,652 (GRCm39)	D137G	possibly damaging	Het
Pcdhb5	C	T	18: 37,455,524 (GRCm39)	P635S	probably benign	Het
Pcdhgb2	T	A	18: 37,825,103 (GRCm39)	I698N	probably damaging	Het
Pde4b	A	G	4: 102,454,967 (GRCm39)	Y399C	probably damaging	Het
Pdf	A	T	8: 107,774,812 (GRCm39)	V140E	probably damaging	Het
Pglyrp2	T	C	17: 32,634,823 (GRCm39)	N513S	probably benign	Het
Ranbp2	T	A	10: 58,312,878 (GRCm39)	D1199E	possibly damaging	Het
Rell2	G	T	18: 38,089,621 (GRCm39)		probably null	Het
Rgl2	A	G	17: 34,156,147 (GRCm39)	H745R	probably benign	Het
Rnf121	A	G	7: 101,672,592 (GRCm39)	C264R	probably damaging	Het
Rnf181	A	G	6: 72,338,499 (GRCm39)	F3S	probably damaging	Het
Rsrc1	T	A	3: 67,262,935 (GRCm39)	D296E	probably damaging	Het
Rubcn	A	T	16: 32,663,678 (GRCm39)	D319E	probably damaging	Het
Scaf8	T	C	17: 3,228,494 (GRCm39)	S431P	unknown	Het
Septin11	T	A	5: 93,310,112 (GRCm39)	M305K	possibly damaging	Het
Serpinb12	A	G	1: 106,884,132 (GRCm39)	K293E	probably benign	Het
Sh3bp1	T	A	15: 78,788,538 (GRCm39)	H229Q	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Specc1	T	A	11: 62,102,510 (GRCm39)	V952E	probably damaging	Het
Spint2	G	A	7: 28,956,211 (GRCm39)	T158I	probably benign	Het
St8sia4	A	T	1: 95,588,623 (GRCm39)	W71R	probably damaging	Het
Tex48	C	T	4: 63,530,151 (GRCm39)	V23I	possibly damaging	Het
Tmc5	G	A	7: 118,244,562 (GRCm39)	G480D	probably benign	Het
Tmem8b	T	A	4: 43,689,713 (GRCm39)	M330K	probably damaging	Het
Tnrc18	C	T	5: 142,717,095 (GRCm39)	R2453Q	probably damaging	Het
Trank1	A	T	9: 111,220,963 (GRCm39)	N2567Y	possibly damaging	Het
Trps1	T	C	15: 50,709,705 (GRCm39)	D211G	probably damaging	Het
Ttn	T	C	2: 76,555,503 (GRCm39)	R30501G	probably damaging	Het
Ttn	T	A	2: 76,573,247 (GRCm39)	Y25882F	probably damaging	Het
Unc79	T	A	12: 103,139,725 (GRCm39)	V2495E	probably damaging	Het
Uqcr10	T	A	11: 4,652,198 (GRCm39)	H58L	possibly damaging	Het
Usp7	A	T	16: 8,574,708 (GRCm39)	C58*	probably null	Het
Vmn1r36	A	T	6: 66,693,872 (GRCm39)	M1K	probably null	Het
Wdr7	T	A	18: 63,911,020 (GRCm39)	M804K	probably damaging	Het
Zfp131	A	C	13: 120,250,394 (GRCm39)		probably null	Het
Zfp507	A	G	7: 35,493,480 (GRCm39)	V521A	probably benign	Het

Other mutations in Fgfr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Fgfr4	APN	13	55,306,983 (GRCm39)	missense	probably damaging	0.99
IGL02140:Fgfr4	APN	13	55,308,992 (GRCm39)	missense	probably benign
IGL02817:Fgfr4	APN	13	55,304,481 (GRCm39)	critical splice donor site	probably null
interference	UTSW	13	55,313,777 (GRCm39)	missense	probably damaging	1.00
Modest	UTSW	13	55,314,064 (GRCm39)	missense	probably damaging	1.00
offense	UTSW	13	55,309,328 (GRCm39)	missense	possibly damaging	0.81
R0153:Fgfr4	UTSW	13	55,309,198 (GRCm39)	splice site	probably benign
R0727:Fgfr4	UTSW	13	55,304,041 (GRCm39)	splice site	probably null
R1646:Fgfr4	UTSW	13	55,313,777 (GRCm39)	missense	probably damaging	1.00
R1749:Fgfr4	UTSW	13	55,315,605 (GRCm39)	splice site	probably null
R1993:Fgfr4	UTSW	13	55,313,715 (GRCm39)	missense	probably damaging	1.00
R2037:Fgfr4	UTSW	13	55,315,702 (GRCm39)	missense	possibly damaging	0.51
R2152:Fgfr4	UTSW	13	55,314,777 (GRCm39)	missense	probably damaging	1.00
R2386:Fgfr4	UTSW	13	55,315,714 (GRCm39)	missense	probably benign	0.36
R3086:Fgfr4	UTSW	13	55,315,205 (GRCm39)	splice site	probably benign
R3939:Fgfr4	UTSW	13	55,304,307 (GRCm39)	missense	probably null	0.96
R4255:Fgfr4	UTSW	13	55,314,064 (GRCm39)	missense	probably damaging	1.00
R4463:Fgfr4	UTSW	13	55,304,280 (GRCm39)	missense	probably benign	0.02
R4510:Fgfr4	UTSW	13	55,309,328 (GRCm39)	missense	possibly damaging	0.81
R4511:Fgfr4	UTSW	13	55,309,328 (GRCm39)	missense	possibly damaging	0.81
R4932:Fgfr4	UTSW	13	55,315,983 (GRCm39)	missense	unknown
R5133:Fgfr4	UTSW	13	55,307,828 (GRCm39)	missense	probably damaging	1.00
R5146:Fgfr4	UTSW	13	55,313,725 (GRCm39)	missense	probably damaging	1.00
R5380:Fgfr4	UTSW	13	55,315,230 (GRCm39)	missense	probably damaging	1.00
R5431:Fgfr4	UTSW	13	55,304,464 (GRCm39)	missense	probably benign
R5927:Fgfr4	UTSW	13	55,314,700 (GRCm39)	missense	probably damaging	1.00
R6318:Fgfr4	UTSW	13	55,313,921 (GRCm39)	missense	probably damaging	1.00
R6792:Fgfr4	UTSW	13	55,304,711 (GRCm39)	missense	possibly damaging	0.65
R7018:Fgfr4	UTSW	13	55,314,013 (GRCm39)	missense	probably damaging	0.98
R7290:Fgfr4	UTSW	13	55,309,262 (GRCm39)	missense	probably benign	0.00
R7343:Fgfr4	UTSW	13	55,306,968 (GRCm39)	missense	probably damaging	1.00
R7808:Fgfr4	UTSW	13	55,308,969 (GRCm39)	missense	possibly damaging	0.68
R7891:Fgfr4	UTSW	13	55,306,964 (GRCm39)	missense	probably benign	0.22
R9028:Fgfr4	UTSW	13	55,306,967 (GRCm39)	missense	probably damaging	1.00
R9144:Fgfr4	UTSW	13	55,315,837 (GRCm39)	critical splice acceptor site	probably null
R9257:Fgfr4	UTSW	13	55,315,974 (GRCm39)	missense	unknown
R9399:Fgfr4	UTSW	13	55,304,293 (GRCm39)	missense	probably damaging	1.00
R9457:Fgfr4	UTSW	13	55,308,940 (GRCm39)	missense	probably benign
R9553:Fgfr4	UTSW	13	55,309,228 (GRCm39)	missense	probably damaging	0.99
R9620:Fgfr4	UTSW	13	55,308,994 (GRCm39)	missense	possibly damaging	0.68
Z1177:Fgfr4	UTSW	13	55,313,742 (GRCm39)	missense	probably damaging	1.00
Z1177:Fgfr4	UTSW	13	55,309,520 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGACCCGTGGGAATATAAGAC -3'
(R):5'- AGATTCGTTCTGCCTGCTGG -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- GCTGAGAGCCGTACAGTG -3'

Posted On

2016-03-01