Mutagenetix > Incidental Mutation

Incidental Mutation 'R5133:Fgfr4'

395959

Institutional Source

Beutler Lab

Gene Symbol

Fgfr4

Ensembl Gene

ENSMUSG00000005320

Gene Name

fibroblast growth factor receptor 4

Synonyms

Fgfr-4

MMRRC Submission

042721-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5133 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55300631-55316572 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55307828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 271 (Y271H)

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: Y271H

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

SMART Domains

Protein: ENSMUSP00000005452
Gene: ENSMUSG00000005320
AA Change: Y271H

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: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.0%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	T	4: 128,655,934 (GRCm39)	T101S	probably damaging	Het
Abraxas2	C	T	7: 132,484,875 (GRCm39)	A306V	probably benign	Het
Acvr1c	T	A	2: 58,173,518 (GRCm39)	N248I	probably damaging	Het
Adgrv1	C	T	13: 81,587,560 (GRCm39)	R4537Q	probably damaging	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Afg3l1	T	C	8: 124,216,532 (GRCm39)	V257A	probably benign	Het
Agbl1	C	A	7: 76,071,904 (GRCm39)	Q334K	probably benign	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Apob	A	T	12: 8,058,898 (GRCm39)	Q2427L	probably damaging	Het
Asxl3	T	C	18: 22,649,765 (GRCm39)	C585R	probably damaging	Het
Baz2a	G	A	10: 127,951,995 (GRCm39)	G571D	probably damaging	Het
Baz2b	A	T	2: 59,792,368 (GRCm39)	S587T	probably benign	Het
Bicdl2	T	C	17: 23,880,795 (GRCm39)	L14P	unknown	Het
Cachd1	G	A	4: 100,851,935 (GRCm39)	S1177N	probably damaging	Het
Cacna2d3	A	G	14: 29,015,135 (GRCm39)	F86L	possibly damaging	Het
Ccdc192	C	T	18: 57,697,041 (GRCm39)	T65I	possibly damaging	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cmya5	T	C	13: 93,229,880 (GRCm39)	K1736R	possibly damaging	Het
Col12a1	A	G	9: 79,512,456 (GRCm39)	V2913A	probably damaging	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Csn1s1	A	G	5: 87,828,737 (GRCm39)	D267G	possibly damaging	Het
Cyp2c40	T	C	19: 39,795,663 (GRCm39)	N172S	probably benign	Het
Dhtkd1	T	A	2: 5,908,813 (GRCm39)	K760N	probably damaging	Het
Dnah17	T	C	11: 118,007,939 (GRCm39)	K691E	probably benign	Het
Dppa4	G	A	16: 48,113,334 (GRCm39)	R189Q	probably benign	Het
Dsp	G	A	13: 38,381,678 (GRCm39)	D2808N	possibly damaging	Het
Egr2	A	G	10: 67,375,605 (GRCm39)	E17G	probably damaging	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Epas1	A	G	17: 87,116,882 (GRCm39)	N184S	probably damaging	Het
Ezh2	C	T	6: 47,517,684 (GRCm39)	C584Y	probably damaging	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam186a	T	G	15: 99,853,374 (GRCm39)	D122A	unknown	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fam234b	T	C	6: 135,186,193 (GRCm39)	V67A	probably benign	Het
Fbn2	T	C	18: 58,172,412 (GRCm39)	D2131G	probably damaging	Het
Gnmt	A	T	17: 47,036,860 (GRCm39)	S250T	probably benign	Het
Golgb1	C	A	16: 36,711,819 (GRCm39)	Q208K	possibly damaging	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Grwd1	T	C	7: 45,475,298 (GRCm39)	T415A	probably benign	Het
Gsk3b	G	A	16: 38,060,882 (GRCm39)	R418H	probably damaging	Het
Hap1	T	G	11: 100,242,357 (GRCm39)	M382L	probably benign	Het
Hspa12b	A	G	2: 130,981,428 (GRCm39)	E221G	possibly damaging	Het
Hspa4l	T	A	3: 40,741,179 (GRCm39)	D709E	possibly damaging	Het
Il17ra	A	G	6: 120,458,514 (GRCm39)	E555G	possibly damaging	Het
Il27ra	T	C	8: 84,760,688 (GRCm39)	T426A	possibly damaging	Het
Jup	T	C	11: 100,273,941 (GRCm39)	D200G	probably benign	Het
Kcnq1	T	C	7: 142,748,083 (GRCm39)		probably null	Het
Kctd9	C	T	14: 67,966,805 (GRCm39)	T106I	probably damaging	Het
Kmt5b	T	A	19: 3,852,240 (GRCm39)	H159Q	probably damaging	Het
Kprp	C	T	3: 92,731,829 (GRCm39)	R407Q	unknown	Het
Kras	T	C	6: 145,177,879 (GRCm39)	Q131R	probably benign	Het
Krt16	T	A	11: 100,138,457 (GRCm39)	R230S	probably damaging	Het
Lpar6	G	A	14: 73,476,147 (GRCm39)	C36Y	probably damaging	Het
Lrp10	T	C	14: 54,707,067 (GRCm39)	S635P	probably benign	Het
Mapre2	C	A	18: 23,991,190 (GRCm39)	H153N	possibly damaging	Het
Mark3	C	A	12: 111,621,762 (GRCm39)	R703S	probably damaging	Het
Mboat2	A	G	12: 25,009,065 (GRCm39)	D457G	probably benign	Het
Med13	T	C	11: 86,210,675 (GRCm39)	D489G	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Mtus1	T	C	8: 41,536,229 (GRCm39)	T496A	probably benign	Het
Nckap5	T	C	1: 125,961,697 (GRCm39)	H204R	probably benign	Het
Nlrc4	G	T	17: 74,753,712 (GRCm39)	P224T	possibly damaging	Het
Oprl1	T	A	2: 181,360,403 (GRCm39)	I153N	probably damaging	Het
Or13a27	A	T	7: 139,925,236 (GRCm39)	I222N	probably damaging	Het
Or4c116	A	T	2: 88,942,140 (GRCm39)		probably null	Het
Or5an1	T	C	19: 12,260,670 (GRCm39)	L86P	possibly damaging	Het
Or5b121	T	A	19: 13,507,442 (GRCm39)	M135K	probably damaging	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Pcdhb5	T	C	18: 37,453,943 (GRCm39)	F108L	probably benign	Het
Pde8b	T	C	13: 95,223,250 (GRCm39)	I335V	probably benign	Het
Pdzd7	T	A	19: 45,016,868 (GRCm39)	I886L	possibly damaging	Het
Prune2	C	T	19: 16,980,995 (GRCm39)	P51S	probably damaging	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Rab27b	T	C	18: 70,122,659 (GRCm39)	D100G	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Samd14	T	C	11: 94,912,409 (GRCm39)	S233P	probably damaging	Het
Sema6a	C	A	18: 47,433,195 (GRCm39)	V79F	probably damaging	Het
Setbp1	A	G	18: 78,900,697 (GRCm39)	I990T	probably damaging	Het
Setx	A	G	2: 29,070,093 (GRCm39)	R2633G	probably benign	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
Slc13a1	A	G	6: 24,103,428 (GRCm39)	S372P	possibly damaging	Het
Smarcc2	T	C	10: 128,297,342 (GRCm39)		probably null	Het
Snrpf	T	C	10: 93,423,985 (GRCm39)	S2G	probably benign	Het
Speer2	C	A	16: 69,655,708 (GRCm39)	K39N	probably null	Het
Spink5	T	G	18: 44,119,490 (GRCm39)	F267C	probably damaging	Het
Tgfbrap1	G	T	1: 43,114,666 (GRCm39)	R145S	probably damaging	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Tmem64	T	C	4: 15,281,119 (GRCm39)	I304T	probably damaging	Het
Tomm7	A	G	5: 24,049,004 (GRCm39)	I23T	probably benign	Het
Top6bl	T	A	19: 4,708,449 (GRCm39)	S194C	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttr	C	T	18: 20,803,167 (GRCm39)	A111V	possibly damaging	Het
Usp47	T	A	7: 111,683,089 (GRCm39)	Y561N	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdr45b	A	G	11: 121,219,621 (GRCm39)	I309T	probably benign	Het
Wnt6	T	C	1: 74,823,755 (GRCm39)	L364P	probably damaging	Het
Zc3h13	T	C	14: 75,573,449 (GRCm39)	L1530P	probably damaging	Het
Zfp933	A	G	4: 147,911,321 (GRCm39)	W60R	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
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'- CAGAAGTCCTTCCCCTGATCTAG -3'
(R):5'- TGAAGCAGCGGACACACTAG -3'

Sequencing Primer
(F):5'- TGATCTAGGAGCGGGGC -3'
(R):5'- TTGTACGTAGGGGAAACC -3'

Posted On

2016-06-21