Mutagenetix > Incidental Mutation

Incidental Mutation 'R7404:Fgfr1'

574426

Institutional Source

Beutler Lab

Gene Symbol

Fgfr1

Ensembl Gene

ENSMUSG00000031565

Gene Name

fibroblast growth factor receptor 1

Synonyms

Hspy, Fr1, FGFR-I, Fgfr-1, Flt-2, Eask

MMRRC Submission

045486-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7404 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26008808-26067819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26045566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 45 (V45A)

Ref Sequence

ENSEMBL: ENSMUSP00000113909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084027] [ENSMUST00000117179] [ENSMUST00000119398] [ENSMUST00000124228] [ENSMUST00000155564] [ENSMUST00000167764] [ENSMUST00000178276] [ENSMUST00000179592] [ENSMUST00000210846]

AlphaFold

P16092

Predicted Effect

probably benign
Transcript: ENSMUST00000084027
AA Change: V45A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081041
Gene: ENSMUSG00000031565
AA Change: V45A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	46	108	2.94e-10	SMART
low complexity region	124	138	N/A	INTRINSIC
IGc2	169	237	4.09e-9	SMART
IGc2	268	348	1.26e-9	SMART
transmembrane domain	375	397	N/A	INTRINSIC
low complexity region	439	453	N/A	INTRINSIC
TyrKc	478	754	1.51e-155	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117179
AA Change: V45A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113909
Gene: ENSMUSG00000031565
AA Change: V45A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	46	108	2.94e-10	SMART
low complexity region	124	138	N/A	INTRINSIC
IGc2	167	235	4.09e-9	SMART
IGc2	266	346	1.26e-9	SMART
transmembrane domain	373	395	N/A	INTRINSIC
low complexity region	437	451	N/A	INTRINSIC
TyrKc	476	752	1.51e-155	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119398

SMART Domains

Protein: ENSMUSP00000113855
Gene: ENSMUSG00000031565

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	35	49	N/A	INTRINSIC
IGc2	80	148	4.09e-9	SMART
IGc2	179	259	1.26e-9	SMART
transmembrane domain	286	308	N/A	INTRINSIC
low complexity region	350	364	N/A	INTRINSIC
TyrKc	389	665	1.51e-155	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124228
AA Change: V45A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116564
Gene: ENSMUSG00000031565
AA Change: V45A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	46	104	5.75e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138104

Predicted Effect

probably benign
Transcript: ENSMUST00000138455

Predicted Effect

probably benign
Transcript: ENSMUST00000155564
AA Change: V45A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117884
Gene: ENSMUSG00000031565
AA Change: V45A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PDB:2CKN\|A	25	51	1e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000167764

SMART Domains

Protein: ENSMUSP00000131343
Gene: ENSMUSG00000031565

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	35	49	N/A	INTRINSIC
IGc2	78	146	4.09e-9	SMART
IGc2	177	255	1.22e-7	SMART
transmembrane domain	286	308	N/A	INTRINSIC
low complexity region	350	364	N/A	INTRINSIC
TyrKc	389	665	1.51e-155	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178276

SMART Domains

Protein: ENSMUSP00000137515
Gene: ENSMUSG00000031565

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	35	49	N/A	INTRINSIC
IGc2	78	146	4.09e-9	SMART
IGc2	177	255	1.22e-7	SMART
transmembrane domain	286	308	N/A	INTRINSIC
low complexity region	350	364	N/A	INTRINSIC
TyrKc	389	665	1.51e-155	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179592
AA Change: V58A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136640
Gene: ENSMUSG00000031565
AA Change: V58A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	59	121	2.94e-10	SMART
low complexity region	137	151	N/A	INTRINSIC
IGc2	180	248	4.09e-9	SMART
IGc2	279	359	1.26e-9	SMART
transmembrane domain	386	408	N/A	INTRINSIC
low complexity region	450	464	N/A	INTRINSIC
TyrKc	489	765	1.51e-155	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000210846
AA Change: V45A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (92/93)

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 (FGFR) 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 consists 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. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die around gastrulation and show defective patterning of axial structures. Hypomorphic and selectively ablated mutations exhibit a wide range of abnormalities affecting diverse structures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,955,099 (GRCm39)	A297T	probably damaging	Het
Adprhl1	T	A	8: 13,275,118 (GRCm39)	S547C	probably damaging	Het
Ankrd63	G	C	2: 118,533,793 (GRCm39)	R43G	unknown	Het
Asah2	T	C	19: 32,035,254 (GRCm39)	T24A	probably benign	Het
Asb17	G	A	3: 153,550,447 (GRCm39)		probably null	Het
Atp8b5	C	T	4: 43,342,640 (GRCm39)	T437I	probably benign	Het
Bbs2	T	C	8: 94,808,992 (GRCm39)	D311G	probably damaging	Het
Birc6	C	T	17: 74,946,789 (GRCm39)	T2851I	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Cchcr1	T	C	17: 35,835,693 (GRCm39)	W266R	probably benign	Het
Col14a1	C	A	15: 55,252,024 (GRCm39)	S560*	probably null	Het
Crocc	G	A	4: 140,753,497 (GRCm39)	T1317M	possibly damaging	Het
Cxxc1	T	A	18: 74,352,278 (GRCm39)	V334E	possibly damaging	Het
Cyp3a25	T	A	5: 145,923,635 (GRCm39)	D336V	probably damaging	Het
Dapk1	A	G	13: 60,867,455 (GRCm39)	T221A	probably benign	Het
Dnah11	G	T	12: 118,068,543 (GRCm39)	T1605K	probably benign	Het
Dnah7c	T	C	1: 46,705,223 (GRCm39)	V2412A	possibly damaging	Het
Ect2l	T	A	10: 18,035,529 (GRCm39)	D524V	probably damaging	Het
Ehbp1l1	T	C	19: 5,770,872 (GRCm39)	E223G	possibly damaging	Het
Ephb2	A	T	4: 136,498,524 (GRCm39)	M185K	probably damaging	Het
Fcer1a	T	C	1: 173,049,083 (GRCm39)	K243E	probably damaging	Het
Fcgbp	T	A	7: 27,800,932 (GRCm39)	I1326N	probably damaging	Het
Filip1	T	A	9: 79,727,380 (GRCm39)	E413V	possibly damaging	Het
Frs3	T	C	17: 48,013,651 (GRCm39)		probably null	Het
Fstl4	A	G	11: 53,024,898 (GRCm39)	T257A	probably benign	Het
Golga5	A	T	12: 102,450,778 (GRCm39)	K477M	probably damaging	Het
Gpr171	A	T	3: 59,005,622 (GRCm39)	I51K	probably damaging	Het
H1f0	T	A	15: 78,913,080 (GRCm39)	Y53*	probably null	Het
Hephl1	A	G	9: 14,981,047 (GRCm39)	V795A	possibly damaging	Het
Hmcn1	A	T	1: 150,596,510 (GRCm39)	D1775E	probably benign	Het
Hs3st2	A	G	7: 121,100,168 (GRCm39)	D338G	possibly damaging	Het
Hsd3b6	T	A	3: 98,713,534 (GRCm39)	Y255F	probably benign	Het
Hspa9	T	C	18: 35,076,329 (GRCm39)	N328D	possibly damaging	Het
Hvcn1	T	A	5: 122,375,748 (GRCm39)	I100N	probably damaging	Het
Ifi207	C	T	1: 173,556,494 (GRCm39)	S748N	possibly damaging	Het
Katnip	A	T	7: 125,464,434 (GRCm39)	N1267I	probably damaging	Het
Kcnma1	G	T	14: 24,052,902 (GRCm39)	T180K	unknown	Het
Kctd16	A	G	18: 40,391,826 (GRCm39)	D138G	probably damaging	Het
Kifc3	A	G	8: 95,830,092 (GRCm39)	Y605H	probably benign	Het
Kmt2d	T	A	15: 98,743,376 (GRCm39)	Q3928L	unknown	Het
Lamb2	C	T	9: 108,364,782 (GRCm39)	R1179C	probably damaging	Het
Layn	T	A	9: 50,968,670 (GRCm39)	I358F	possibly damaging	Het
Lrig1	G	A	6: 94,603,452 (GRCm39)	T232M	probably damaging	Het
Lrp1	T	C	10: 127,418,577 (GRCm39)	T38A		Het
Map3k14	A	G	11: 103,129,918 (GRCm39)	V333A	probably benign	Het
Med13	T	C	11: 86,177,272 (GRCm39)	D1608G	possibly damaging	Het
Mrps31	T	G	8: 22,911,429 (GRCm39)	S224A	probably benign	Het
Msh6	G	T	17: 88,282,548 (GRCm39)			Het
Ncapd3	A	G	9: 26,978,315 (GRCm39)	D838G	probably benign	Het
Nlrp1a	C	A	11: 70,987,919 (GRCm39)	E1184*	probably null	Het
Npat	T	A	9: 53,466,233 (GRCm39)		probably null	Het
Nup210	A	T	6: 91,050,227 (GRCm39)	I414N	probably benign	Het
Or1e19	A	T	11: 73,316,419 (GRCm39)	L130H	probably damaging	Het
Or52n2	A	T	7: 104,542,181 (GRCm39)	V218E	possibly damaging	Het
Or5b122	T	A	19: 13,562,752 (GRCm39)	I28N	possibly damaging	Het
Or5h19	T	C	16: 58,856,603 (GRCm39)	T166A	possibly damaging	Het
Or6z5	T	C	7: 6,477,163 (GRCm39)	L18P	probably damaging	Het
Or8b12c	A	T	9: 37,715,257 (GRCm39)	T17S	possibly damaging	Het
Or8h7	A	C	2: 86,721,217 (GRCm39)	L101V	probably benign	Het
Otud7b	G	C	3: 96,043,936 (GRCm39)		probably null	Het
Phf11d	A	C	14: 59,596,942 (GRCm39)	W86G	probably benign	Het
Pik3c2b	T	A	1: 133,018,444 (GRCm39)	S964T	probably damaging	Het
Pira1	T	C	7: 3,742,344 (GRCm39)	Y61C	probably damaging	Het
Plod3	G	A	5: 137,023,901 (GRCm39)	V687I	probably benign	Het
Poglut1	T	G	16: 38,358,284 (GRCm39)	Y208S	possibly damaging	Het
Pou1f1	T	A	16: 65,330,749 (GRCm39)	L253H	probably damaging	Het
Pou2f1	C	T	1: 165,738,955 (GRCm39)	A166T	unknown	Het
Rhbdl3	C	T	11: 80,237,659 (GRCm39)	S297L	probably damaging	Het
Rxra	A	T	2: 27,631,866 (GRCm39)	N179I	probably damaging	Het
Ryr2	C	T	13: 11,750,506 (GRCm39)	E1922K	probably damaging	Het
Scube1	T	C	15: 83,499,211 (GRCm39)	Y668C	probably damaging	Het
Sec16b	A	G	1: 157,358,927 (GRCm39)	Y120C	probably damaging	Het
Sec61b	G	T	4: 47,483,047 (GRCm39)	K92N	probably damaging	Het
Skic3	T	A	13: 76,296,866 (GRCm39)	Y1074*	probably null	Het
Slc13a3	T	C	2: 165,275,984 (GRCm39)	N254S	possibly damaging	Het
Slc17a7	T	A	7: 44,822,354 (GRCm39)	Y397N	probably benign	Het
Slc25a3	A	G	10: 90,952,902 (GRCm39)	V333A	possibly damaging	Het
Slc7a8	A	T	14: 54,964,283 (GRCm39)	V390E	probably damaging	Het
Sorbs2	G	A	8: 46,212,233 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,621,650 (GRCm39)	N948D	probably benign	Het
Tacc2	A	T	7: 130,225,066 (GRCm39)	T584S	probably benign	Het
Tec	A	T	5: 72,920,961 (GRCm39)	D471E	probably damaging	Het
Tecpr2	C	T	12: 110,898,038 (GRCm39)	A430V	probably benign	Het
Tmcc2	A	T	1: 132,288,759 (GRCm39)	D309E	probably damaging	Het
Tmem82	G	A	4: 141,344,742 (GRCm39)	A67V	possibly damaging	Het
Ttc23l	T	C	15: 10,551,663 (GRCm39)	Q21R	probably damaging	Het
Ubl3	A	G	5: 148,448,764 (GRCm39)	F26L	probably damaging	Het
Upf2	A	G	2: 6,045,014 (GRCm39)	E1088G	unknown	Het
Usp9y	T	A	Y: 1,341,780 (GRCm39)	I1362F	probably benign	Het
Wnk4	T	A	11: 101,159,318 (GRCm39)		probably null	Het
Wrn	C	G	8: 33,738,994 (GRCm39)	W1278S	probably benign	Het
Zfc3h1	T	A	10: 115,251,153 (GRCm39)	V1248D	probably damaging	Het
Zfp12	T	A	5: 143,226,099 (GRCm39)	V56D	probably damaging	Het

Other mutations in Fgfr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Fgfr1	APN	8	26,052,239 (GRCm39)	nonsense	probably null
IGL01537:Fgfr1	APN	8	26,045,595 (GRCm39)	missense	probably damaging	1.00
IGL01643:Fgfr1	APN	8	26,056,751 (GRCm39)	missense	probably benign	0.01
IGL01875:Fgfr1	APN	8	26,063,569 (GRCm39)	missense	possibly damaging	0.81
IGL02002:Fgfr1	APN	8	26,045,727 (GRCm39)	missense	probably damaging	1.00
IGL02698:Fgfr1	APN	8	26,063,624 (GRCm39)	nonsense	probably null
IGL02822:Fgfr1	APN	8	26,047,818 (GRCm39)	missense	probably benign	0.13
IGL03292:Fgfr1	APN	8	26,047,771 (GRCm39)	missense	possibly damaging	0.50
R0003:Fgfr1	UTSW	8	26,058,214 (GRCm39)	missense	possibly damaging	0.80
R0723:Fgfr1	UTSW	8	26,047,784 (GRCm39)	missense	probably damaging	0.99
R0730:Fgfr1	UTSW	8	26,045,760 (GRCm39)	missense	probably benign
R1144:Fgfr1	UTSW	8	26,048,159 (GRCm39)	missense	probably damaging	1.00
R1455:Fgfr1	UTSW	8	26,052,292 (GRCm39)	missense	possibly damaging	0.81
R1591:Fgfr1	UTSW	8	26,062,736 (GRCm39)	missense	probably damaging	1.00
R1754:Fgfr1	UTSW	8	26,060,226 (GRCm39)	missense	probably damaging	1.00
R2045:Fgfr1	UTSW	8	26,048,231 (GRCm39)	missense	probably benign	0.04
R2139:Fgfr1	UTSW	8	26,060,882 (GRCm39)	missense	probably damaging	1.00
R2314:Fgfr1	UTSW	8	26,060,909 (GRCm39)	missense	probably damaging	1.00
R2517:Fgfr1	UTSW	8	26,053,462 (GRCm39)	missense	probably damaging	1.00
R2982:Fgfr1	UTSW	8	26,048,227 (GRCm39)	missense	probably benign	0.04
R3796:Fgfr1	UTSW	8	26,062,453 (GRCm39)	missense	probably damaging	1.00
R3797:Fgfr1	UTSW	8	26,062,453 (GRCm39)	missense	probably damaging	1.00
R3799:Fgfr1	UTSW	8	26,062,453 (GRCm39)	missense	probably damaging	1.00
R4323:Fgfr1	UTSW	8	26,063,915 (GRCm39)	missense	probably benign	0.37
R4594:Fgfr1	UTSW	8	26,063,852 (GRCm39)	missense	probably damaging	0.99
R4614:Fgfr1	UTSW	8	26,047,813 (GRCm39)	missense	probably benign	0.25
R4696:Fgfr1	UTSW	8	26,053,504 (GRCm39)	missense	probably damaging	0.99
R4916:Fgfr1	UTSW	8	26,053,542 (GRCm39)	critical splice donor site	probably null
R4966:Fgfr1	UTSW	8	26,062,461 (GRCm39)	nonsense	probably null
R5094:Fgfr1	UTSW	8	26,060,181 (GRCm39)	missense	probably damaging	1.00
R5730:Fgfr1	UTSW	8	26,063,827 (GRCm39)	missense	probably damaging	1.00
R5911:Fgfr1	UTSW	8	26,009,325 (GRCm39)	utr 5 prime	probably benign
R7310:Fgfr1	UTSW	8	26,052,331 (GRCm39)	missense	probably benign	0.01
R7326:Fgfr1	UTSW	8	26,063,855 (GRCm39)	missense	probably damaging	1.00
R7611:Fgfr1	UTSW	8	26,048,221 (GRCm39)	nonsense	probably null
R7681:Fgfr1	UTSW	8	26,045,677 (GRCm39)	missense	probably damaging	0.98
R7738:Fgfr1	UTSW	8	26,048,201 (GRCm39)	missense	probably damaging	0.96
R7789:Fgfr1	UTSW	8	26,052,329 (GRCm39)	nonsense	probably null
R7958:Fgfr1	UTSW	8	26,022,358 (GRCm39)	missense	probably benign
R8206:Fgfr1	UTSW	8	26,060,258 (GRCm39)	missense	probably damaging	1.00
R8236:Fgfr1	UTSW	8	26,052,288 (GRCm39)	nonsense	probably null
R8691:Fgfr1	UTSW	8	26,052,253 (GRCm39)	missense	possibly damaging	0.95
R9124:Fgfr1	UTSW	8	26,060,185 (GRCm39)	missense	probably damaging	1.00
R9633:Fgfr1	UTSW	8	26,060,776 (GRCm39)	missense	probably damaging	1.00
R9704:Fgfr1	UTSW	8	26,063,579 (GRCm39)	missense	probably benign	0.01
R9798:Fgfr1	UTSW	8	26,053,523 (GRCm39)	missense	unknown
Z1177:Fgfr1	UTSW	8	26,060,784 (GRCm39)	missense	possibly damaging	0.67
Z1177:Fgfr1	UTSW	8	26,053,414 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTAGCTAAGGCCTGGACAGTG -3'
(R):5'- TACCAACCTGAGACATTGACG -3'

Sequencing Primer
(F):5'- TGGACAGTGCAGTGACCTAC -3'
(R):5'- AGAAGTAGGTGGTATCGCTGCC -3'

Posted On

2019-09-13