Mutagenetix > Incidental Mutation

Incidental Mutation 'R4510:Fgfr4'

331225

Institutional Source

Beutler Lab

Gene Symbol

Fgfr4

Ensembl Gene

ENSMUSG00000005320

Gene Name

fibroblast growth factor receptor 4

Synonyms

Fgfr-4

MMRRC Submission

041585-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55300631-55316572 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55309328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 455 (P455Q)

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: P455Q

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000005452
Gene: ENSMUSG00000005320
AA Change: P455Q

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

Meta Mutation Damage Score

0.6289

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

96% (50/52)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,100,819 (GRCm39)	D397E	probably benign	Het
Abcc10	A	G	17: 46,618,136 (GRCm39)	F1005L	probably damaging	Het
Ackr4	T	C	9: 103,975,930 (GRCm39)	E339G	probably benign	Het
Adam39	G	T	8: 41,279,328 (GRCm39)	C573F	probably damaging	Het
Anks1b	A	G	10: 90,346,652 (GRCm39)	T651A	probably benign	Het
Aoc1	C	A	6: 48,884,740 (GRCm39)	H594Q	probably damaging	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
Atp4a	G	T	7: 30,423,678 (GRCm39)	E928*	probably null	Het
Atp5pf	T	C	16: 84,624,862 (GRCm39)	D104G	probably benign	Het
Atp8b5	A	G	4: 43,320,629 (GRCm39)	T206A	probably damaging	Het
Atrn	G	A	2: 130,777,497 (GRCm39)	W182*	probably null	Het
Bltp2	T	C	11: 78,168,154 (GRCm39)	S1530P	possibly damaging	Het
Cacna1e	G	A	1: 154,437,579 (GRCm39)	T257I	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Crebrf	A	G	17: 26,961,938 (GRCm39)	Y345C	probably benign	Het
Cyp26b1	G	A	6: 84,551,473 (GRCm39)	R248W	probably damaging	Het
Dclk3	C	A	9: 111,297,060 (GRCm39)	H201Q	probably benign	Het
Ddx17	A	T	15: 79,422,793 (GRCm39)	V315E	probably damaging	Het
Dhrs11	T	C	11: 84,716,342 (GRCm39)	*51W	probably null	Het
Gabbr1	A	G	17: 37,380,103 (GRCm39)	K697E	probably damaging	Het
Gcnt1	G	A	19: 17,307,641 (GRCm39)	T28I	probably benign	Het
Gga2	G	A	7: 121,620,301 (GRCm39)	T4M	unknown	Het
Gm12185	T	A	11: 48,799,305 (GRCm39)	H396L	possibly damaging	Het
Gm21976	A	G	13: 98,441,839 (GRCm39)	R123G	probably benign	Het
Hecw1	A	C	13: 14,531,776 (GRCm39)	V166G	probably damaging	Het
Hpx	A	G	7: 105,241,295 (GRCm39)	V372A	possibly damaging	Het
Igkv2-109	A	G	6: 68,279,962 (GRCm39)	Y61C	probably damaging	Het
Igsf1	A	G	X: 48,875,050 (GRCm39)	F789S	probably damaging	Het
Il4ra	A	G	7: 125,175,280 (GRCm39)	D496G	possibly damaging	Het
Ilf3	A	G	9: 21,310,511 (GRCm39)	T547A	possibly damaging	Het
Insrr	C	A	3: 87,715,978 (GRCm39)	P558T	possibly damaging	Het
Ints9	A	G	14: 65,266,381 (GRCm39)	D411G	possibly damaging	Het
Irak3	T	A	10: 119,981,813 (GRCm39)	H393L	probably damaging	Het
Isx	G	A	8: 75,600,298 (GRCm39)	M10I	probably benign	Het
Itga11	A	G	9: 62,668,870 (GRCm39)	D709G	probably damaging	Het
Kcng2	G	T	18: 80,338,930 (GRCm39)	R453S	probably benign	Het
Kif5b	A	G	18: 6,214,011 (GRCm39)	V664A	probably benign	Het
Lalba	A	G	15: 98,380,422 (GRCm39)	L44P	probably benign	Het
Ldlrad1	T	G	4: 107,066,715 (GRCm39)	F17V	probably benign	Het
Lnx1	C	T	5: 74,780,853 (GRCm39)	D382N	probably damaging	Het
Lrp1	T	C	10: 127,429,717 (GRCm39)	Y451C	probably damaging	Het
Lrp2	A	T	2: 69,310,406 (GRCm39)	N2722K	possibly damaging	Het
Mctp1	G	A	13: 76,973,391 (GRCm39)	V431I	probably benign	Het
Mmrn2	T	C	14: 34,125,016 (GRCm39)	F866L	possibly damaging	Het
Mylk2	A	G	2: 152,759,330 (GRCm39)	E367G	probably damaging	Het
Nfatc1	A	G	18: 80,678,794 (GRCm39)	S865P	probably damaging	Het
Nol6	G	C	4: 41,123,526 (GRCm39)	T74R	probably damaging	Het
Notch2	T	C	3: 98,053,637 (GRCm39)	M2100T	probably benign	Het
Parp1	A	G	1: 180,418,841 (GRCm39)	K667R	possibly damaging	Het
Phlda3	A	G	1: 135,694,400 (GRCm39)	T72A	probably damaging	Het
Polg	T	C	7: 79,105,270 (GRCm39)	Q758R	probably benign	Het
Polq	G	A	16: 36,868,925 (GRCm39)	R765H	probably damaging	Het
Pramel19	A	T	4: 101,798,757 (GRCm39)	M243L	probably benign	Het
Prkd1	T	C	12: 50,439,762 (GRCm39)	D355G	possibly damaging	Het
Prpf8	T	C	11: 75,382,652 (GRCm39)	Y398H	probably damaging	Het
Ripk1	T	C	13: 34,210,731 (GRCm39)	Y309H	probably damaging	Het
Rngtt	A	T	4: 33,339,032 (GRCm39)	Q279L	possibly damaging	Het
Rusf1	A	T	7: 127,875,312 (GRCm39)	F319Y	probably damaging	Het
Samd4	T	A	14: 47,315,042 (GRCm39)	V114D	probably benign	Het
Sec23ip	G	A	7: 128,380,900 (GRCm39)	E956K	probably damaging	Het
Slc4a1ap	A	T	5: 31,684,747 (GRCm39)	T128S	probably benign	Het
Slc5a11	A	T	7: 122,834,858 (GRCm39)	I6F	probably benign	Het
Slc6a19	A	C	13: 73,832,094 (GRCm39)	L494R	probably damaging	Het
Slc6a21	A	G	7: 44,936,713 (GRCm39)	D189G	probably damaging	Het
Slc7a1	G	T	5: 148,277,372 (GRCm39)	A381D	probably damaging	Het
Smc4	T	A	3: 68,923,980 (GRCm39)		probably null	Het
Stk19	T	C	17: 35,051,504 (GRCm39)	E17G	probably damaging	Het
Tekt5	A	C	16: 10,175,877 (GRCm39)	V556G	probably benign	Het
Tenm4	T	C	7: 96,544,070 (GRCm39)	F2029L	probably benign	Het
Thnsl1	T	C	2: 21,217,236 (GRCm39)	V330A	probably damaging	Het
Tnfrsf21	A	G	17: 43,375,910 (GRCm39)	D432G	probably damaging	Het
Tnip1	T	A	11: 54,817,616 (GRCm39)	S244C	probably benign	Het
Tnrc6c	A	T	11: 117,633,784 (GRCm39)	N1294I	possibly damaging	Het
Trpm3	A	G	19: 22,965,381 (GRCm39)	I1625M	probably benign	Het
Ttn	A	T	2: 76,575,773 (GRCm39)	V25040E	probably damaging	Het
Vwa5a	A	G	9: 38,633,853 (GRCm39)	N19D	possibly damaging	Het
Washc2	A	T	6: 116,197,517 (GRCm39)	D250V	probably damaging	Het
Xpo1	A	G	11: 23,237,401 (GRCm39)	T755A	possibly damaging	Het
Zfp462	C	T	4: 55,008,934 (GRCm39)	T300I	possibly damaging	Het
Zfp937	A	C	2: 150,080,431 (GRCm39)	T154P	probably damaging	Het
Zzef1	A	G	11: 72,778,996 (GRCm39)	D1819G	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
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
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'- TATACAAAAGCTGTCCCGTTTCC -3'
(R):5'- ATACCAAAGGCCTCTGCACG -3'

Sequencing Primer
(F):5'- CTTTGGCCCGACAGGTAC -3'
(R):5'- GCCTCTGCACGAACCACTTG -3'

Posted On

2015-07-21