Mutagenetix > Incidental Mutation

Incidental Mutation 'R9028:Fgfr4'

686895

Institutional Source

Beutler Lab

Gene Symbol

Fgfr4

Ensembl Gene

ENSMUSG00000005320

Gene Name

fibroblast growth factor receptor 4

Synonyms

Fgfr-4

MMRRC Submission

068857-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55300631-55316572 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55306967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 219 (Y219H)

Ref Sequence

ENSEMBL: ENSMUSP00000005452 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000005452
AA Change: Y219H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005452
Gene: ENSMUSG00000005320
AA Change: Y219H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (74/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,023,977 (GRCm39)	V1066A	probably damaging	Het
Abca5	T	A	11: 110,188,904 (GRCm39)	H851L	probably damaging	Het
Actn2	T	C	13: 12,315,864 (GRCm39)	I218M	possibly damaging	Het
Afmid	G	A	11: 117,727,489 (GRCm39)	E338K	probably benign	Het
Amer3	G	A	1: 34,627,758 (GRCm39)	V666I	probably benign	Het
Apol7b	A	G	15: 77,307,616 (GRCm39)	V293A	probably damaging	Het
Bag6	T	A	17: 35,363,130 (GRCm39)	S657T	probably benign	Het
Btaf1	T	C	19: 36,946,508 (GRCm39)	L438P	probably damaging	Het
Cdc20	T	C	4: 118,293,757 (GRCm39)	E126G	probably benign	Het
Cep97	C	T	16: 55,739,915 (GRCm39)	W248*	probably null	Het
Cfap69	A	T	5: 5,696,958 (GRCm39)	S113T	probably benign	Het
Cgrrf1	C	A	14: 47,091,200 (GRCm39)	D241E	probably benign	Het
Cnksr1	T	C	4: 133,960,608 (GRCm39)	T280A	possibly damaging	Het
Cox4i1	T	A	8: 121,398,022 (GRCm39)		probably benign	Het
Cpm	T	A	10: 117,519,414 (GRCm39)	F441I	probably benign	Het
Cs	A	C	10: 128,188,952 (GRCm39)	M154L		Het
Dmrta1	T	A	4: 89,579,914 (GRCm39)	N291K	probably damaging	Het
Dnah7a	T	C	1: 53,560,297 (GRCm39)	T2125A	probably benign	Het
Dock10	A	T	1: 80,584,012 (GRCm39)		probably benign	Het
Dok7	A	G	5: 35,236,819 (GRCm39)	Y369C	probably damaging	Het
E130311K13Rik	T	C	3: 63,822,969 (GRCm39)	Y225C	probably damaging	Het
Elapor1	G	A	3: 108,370,819 (GRCm39)	T687I	probably benign	Het
F7	T	C	8: 13,076,087 (GRCm39)	L10P	possibly damaging	Het
Faf1	C	A	4: 109,748,105 (GRCm39)	T470K	possibly damaging	Het
Fam83h	A	T	15: 75,875,738 (GRCm39)	L533Q	possibly damaging	Het
Far1	T	A	7: 113,146,629 (GRCm39)	V129E	probably damaging	Het
Fryl	A	T	5: 73,255,609 (GRCm39)	S807R	probably benign	Het
Gaa	T	A	11: 119,161,207 (GRCm39)	D83E	probably benign	Het
Grm2	A	G	9: 106,528,384 (GRCm39)	S167P	possibly damaging	Het
H1f11-ps	T	C	19: 47,159,129 (GRCm39)	K149E	unknown	Het
Hibch	T	C	1: 52,892,868 (GRCm39)	L26P	possibly damaging	Het
Hspa9	T	C	18: 35,075,084 (GRCm39)	E415G	probably damaging	Het
Ipo4	T	C	14: 55,866,408 (GRCm39)	Y757C	probably damaging	Het
Itk	T	A	11: 46,235,710 (GRCm39)		probably benign	Het
Kdm5a	C	T	6: 120,416,092 (GRCm39)	P1671S	probably benign	Het
Kif13a	G	A	13: 46,951,841 (GRCm39)	P811S	probably damaging	Het
Kif23	T	C	9: 61,828,341 (GRCm39)	E857G	probably damaging	Het
Kif2b	A	G	11: 91,468,011 (GRCm39)	S91P	probably benign	Het
Letm1	G	T	5: 33,909,847 (GRCm39)	Q396K	probably damaging	Het
Map2k6	T	A	11: 110,388,799 (GRCm39)	M247K		Het
Mga	A	G	2: 119,778,070 (GRCm39)	I1872V	probably benign	Het
Mmp15	A	T	8: 96,096,316 (GRCm39)	N369I	probably benign	Het
Myo3a	T	A	2: 22,490,099 (GRCm39)	S1487T	possibly damaging	Het
Ncam1	T	C	9: 49,418,736 (GRCm39)	T855A		Het
Ncoa2	A	G	1: 13,223,079 (GRCm39)	V1182A	probably benign	Het
Nhlrc3	A	T	3: 53,360,992 (GRCm39)	C254*	probably null	Het
Nlrp1a	C	T	11: 71,013,819 (GRCm39)	R477H	probably benign	Het
Nox3	T	A	17: 3,716,185 (GRCm39)	T407S	possibly damaging	Het
Or1x6	C	T	11: 50,939,660 (GRCm39)	T242M	probably damaging	Het
Or3a1d	T	C	11: 74,237,747 (GRCm39)	Y101C	probably damaging	Het
Or4c15b	T	A	2: 89,112,676 (GRCm39)	D267V	probably damaging	Het
Pfkp	T	A	13: 6,655,725 (GRCm39)	I303F	probably damaging	Het
Pgc	T	C	17: 48,043,983 (GRCm39)	Y292H	possibly damaging	Het
Phtf2	A	G	5: 20,999,373 (GRCm39)	Y257H	probably benign	Het
Pkdrej	T	C	15: 85,701,098 (GRCm39)	N1613D	probably damaging	Het
Prb1b	C	T	6: 132,289,618 (GRCm39)	E69K	unknown	Het
Rapgef2	A	G	3: 78,981,651 (GRCm39)	S1115P	probably damaging	Het
Rbpj	A	G	5: 53,807,032 (GRCm39)	E260G	possibly damaging	Het
Rrm1	T	A	7: 102,109,605 (GRCm39)	N476K	probably damaging	Het
Slc9a2	T	A	1: 40,765,612 (GRCm39)	I334N	probably damaging	Het
Slk	T	G	19: 47,608,512 (GRCm39)	N488K	probably benign	Het
Smarca5	T	C	8: 81,440,642 (GRCm39)	I607M	probably damaging	Het
Sspo	G	A	6: 48,473,087 (GRCm39)	V162M	probably benign	Het
Svep1	T	G	4: 58,145,199 (GRCm39)	Q422P	possibly damaging	Het
Tcn2	C	T	11: 3,872,111 (GRCm39)	V339I	probably damaging	Het
Tnfrsf19	T	C	14: 61,242,650 (GRCm39)	H78R	probably benign	Het
Trav14-3	C	A	14: 54,000,887 (GRCm39)	Q33K	unknown	Het
Ubtd2	T	C	11: 32,449,432 (GRCm39)	I93T	possibly damaging	Het
Uhrf2	G	A	19: 30,066,744 (GRCm39)		probably null	Het
Vmn1r224	T	G	17: 20,640,112 (GRCm39)	S230A	possibly damaging	Het
Wee2	A	T	6: 40,421,189 (GRCm39)	H93L	probably benign	Het
Zdhhc17	T	C	10: 110,796,934 (GRCm39)	E279G	probably damaging	Het
Zfp623	T	A	15: 75,819,349 (GRCm39)	F102I	probably damaging	Het
Zfpm2	A	C	15: 40,966,758 (GRCm39)	E1081A	possibly damaging	Het
Zscan18	A	T	7: 12,506,116 (GRCm39)		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
R4852:Fgfr4	UTSW	13	55,308,969 (GRCm39)	missense	possibly damaging	0.68
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
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'- TCTGTTCAGGAGTCTCTGGC -3'
(R):5'- GACCCTTGGGCTTATTTTGC -3'

Sequencing Primer
(F):5'- TTGGCCTAATCCTCTCAGGGG -3'
(R):5'- GCTCATCTGAAACTGACTTCG -3'

Posted On

2021-11-19