Mutagenetix > Incidental Mutation

Incidental Mutation 'R7326:Fgfr1'

568912

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

045378-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26008808-26067819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 26063855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 707 (F707C)

Ref Sequence

ENSEMBL: ENSMUSP00000113855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079160] [ENSMUST00000084027] [ENSMUST00000117179] [ENSMUST00000119398] [ENSMUST00000167764] [ENSMUST00000178276] [ENSMUST00000179592]

AlphaFold

P16092

Predicted Effect

probably benign
Transcript: ENSMUST00000079160

SMART Domains

Protein: ENSMUSP00000078160
Gene: ENSMUSG00000037363

Domain	Start	End	E-Value	Type
low complexity region	106	117	N/A	INTRINSIC
Pfam:LETM1	120	384	1.2e-102	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000084027
AA Change: F796C

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

SMART Domains

Protein: ENSMUSP00000081041
Gene: ENSMUSG00000031565
AA Change: F796C

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 damaging
Transcript: ENSMUST00000117179
AA Change: F794C

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

SMART Domains

Protein: ENSMUSP00000113909
Gene: ENSMUSG00000031565
AA Change: F794C

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 damaging
Transcript: ENSMUST00000119398
AA Change: F707C

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

SMART Domains

Protein: ENSMUSP00000113855
Gene: ENSMUSG00000031565
AA Change: F707C

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: ENSMUST00000138104

Predicted Effect

probably damaging
Transcript: ENSMUST00000167764
AA Change: F707C

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

SMART Domains

Protein: ENSMUSP00000131343
Gene: ENSMUSG00000031565
AA Change: F707C

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 damaging
Transcript: ENSMUST00000178276
AA Change: F707C

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

SMART Domains

Protein: ENSMUSP00000137515
Gene: ENSMUSG00000031565
AA Change: F707C

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 damaging
Transcript: ENSMUST00000179592
AA Change: F807C

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

SMART Domains

Protein: ENSMUSP00000136640
Gene: ENSMUSG00000031565
AA Change: F807C

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

Coding Region Coverage

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

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 (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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,984,226 (GRCm39)	V652A	probably benign	Het
Acvrl1	G	T	15: 101,038,953 (GRCm39)	V417L	probably damaging	Het
Add1	A	G	5: 34,776,715 (GRCm39)	R479G	probably benign	Het
Adgb	A	T	10: 10,276,318 (GRCm39)	L350Q	possibly damaging	Het
Adgrl2	A	T	3: 148,552,506 (GRCm39)	S666T	probably benign	Het
Akap9	T	A	5: 4,095,930 (GRCm39)	D2268E	possibly damaging	Het
Amigo3	C	A	9: 107,931,265 (GRCm39)	H229Q	probably benign	Het
Ano6	G	C	15: 95,762,125 (GRCm39)	Q31H	possibly damaging	Het
Ap4m1	G	A	5: 138,173,281 (GRCm39)	D180N	probably damaging	Het
Apc2	A	T	10: 80,147,574 (GRCm39)	D876V	probably damaging	Het
Apcdd1	T	A	18: 63,085,259 (GRCm39)	Y485*	probably null	Het
Aqp1	G	T	6: 55,313,836 (GRCm39)	D121Y	probably benign	Het
Bicd2	C	A	13: 49,523,085 (GRCm39)	R141S	probably benign	Het
Brpf3	C	A	17: 29,025,267 (GRCm39)	H113Q	probably benign	Het
Cacng2	A	T	15: 77,897,520 (GRCm39)	Y96*	probably null	Het
Catsperg1	G	T	7: 28,910,184 (GRCm39)	N52K	possibly damaging	Het
Celsr2	A	C	3: 108,302,311 (GRCm39)	F2606V	possibly damaging	Het
Cerkl	A	T	2: 79,162,949 (GRCm39)	N516K	probably benign	Het
Ciita	G	A	16: 10,330,152 (GRCm39)	R812H	probably damaging	Het
Cldn3	T	A	5: 135,015,837 (GRCm39)	L180Q	probably damaging	Het
Cnot6l	T	C	5: 96,225,158 (GRCm39)	I512V	probably benign	Het
Col5a2	A	T	1: 45,482,027 (GRCm39)	D32E	unknown	Het
Coro7	A	G	16: 4,449,912 (GRCm39)	V616A	probably damaging	Het
Cyp4f18	T	C	8: 72,742,498 (GRCm39)	D494G	probably benign	Het
Ddx39a	T	A	8: 84,449,100 (GRCm39)	V296E	probably benign	Het
Dgkg	A	T	16: 22,367,440 (GRCm39)	H593Q	probably damaging	Het
Dhx16	T	C	17: 36,197,052 (GRCm39)	L645P	probably damaging	Het
Dnah14	A	G	1: 181,425,968 (GRCm39)	M171V	probably benign	Het
Dnhd1	G	A	7: 105,370,137 (GRCm39)	V4521I	probably damaging	Het
Dok7	A	T	5: 35,221,866 (GRCm39)	M60L	probably benign	Het
Donson	A	T	16: 91,485,599 (GRCm39)	M1K	probably null	Het
Dsp	C	T	13: 38,376,859 (GRCm39)	T1548M	probably benign	Het
Dyrk1a	A	G	16: 94,492,902 (GRCm39)	T712A	probably damaging	Het
Eef2	A	G	10: 81,017,116 (GRCm39)	T708A	probably benign	Het
Epn3	G	A	11: 94,384,606 (GRCm39)	T289I	probably benign	Het
Fam171a1	C	T	2: 3,227,509 (GRCm39)	R881*	probably null	Het
Fat2	T	A	11: 55,173,130 (GRCm39)	R2528W	probably damaging	Het
Fbxl9	T	C	8: 106,039,530 (GRCm39)	D127G	probably damaging	Het
Frem2	G	C	3: 53,562,174 (GRCm39)	P778A	probably damaging	Het
Ganc	A	G	2: 120,261,080 (GRCm39)	Y255C	probably damaging	Het
Garin4	G	A	1: 190,896,550 (GRCm39)	T31M	probably benign	Het
Ginm1	A	T	10: 7,653,614 (GRCm39)	Y65*	probably null	Het
Gm11559	T	A	11: 99,755,707 (GRCm39)	C119S	unknown	Het
Gnai1	T	A	5: 18,494,549 (GRCm39)	H188L		Het
H2bc6	T	C	13: 23,769,906 (GRCm39)	K12E	probably benign	Het
H6pd	C	T	4: 150,080,807 (GRCm39)	A13T	probably benign	Het
Hoxd12	A	T	2: 74,505,590 (GRCm39)	T54S	possibly damaging	Het
Hs3st5	T	A	10: 36,709,190 (GRCm39)	L242M	probably damaging	Het
Il9r	C	A	11: 32,144,389 (GRCm39)	V139L	possibly damaging	Het
Immt	A	G	6: 71,823,353 (GRCm39)	D68G	probably damaging	Het
Itsn2	A	G	12: 4,682,985 (GRCm39)	I304V	unknown	Het
Lgr4	G	A	2: 109,826,974 (GRCm39)	W159*	probably null	Het
Lin52	G	A	12: 84,504,728 (GRCm39)	G38S	probably damaging	Het
Lpgat1	A	T	1: 191,451,565 (GRCm39)	M64L	probably benign	Het
Lrrc10b	G	T	19: 10,434,142 (GRCm39)	R180S	possibly damaging	Het
Lrrc36	A	T	8: 106,176,401 (GRCm39)	L258F	possibly damaging	Het
Ltbp4	T	A	7: 27,029,180 (GRCm39)	Q235L	unknown	Het
Maml2	A	G	9: 13,532,903 (GRCm39)	M706V		Het
Mc5r	G	T	18: 68,472,739 (GRCm39)	C366F	probably damaging	Het
Mlip	T	C	9: 77,072,124 (GRCm39)	R244G	probably benign	Het
Muc16	T	A	9: 18,496,309 (GRCm39)	R6658S	probably benign	Het
Mup4	G	T	4: 59,960,046 (GRCm39)	H73N	possibly damaging	Het
Nf1	A	G	11: 79,455,769 (GRCm39)	M565V	probably benign	Het
Nphp1	G	A	2: 127,603,137 (GRCm39)	T382I	possibly damaging	Het
Nrcam	C	T	12: 44,610,809 (GRCm39)	T503I	possibly damaging	Het
Nwd2	A	T	5: 63,957,752 (GRCm39)	N361Y	probably damaging	Het
Or10a3	A	T	7: 108,480,023 (GRCm39)	H263Q	probably damaging	Het
Or4f15	A	T	2: 111,813,672 (GRCm39)	L249*	probably null	Het
Or5ak23	A	T	2: 85,244,788 (GRCm39)	V145E	probably damaging	Het
Or6f1	A	G	7: 85,970,782 (GRCm39)	I126T	probably damaging	Het
Or7g21	A	G	9: 19,032,965 (GRCm39)	Y235C	probably benign	Het
Or8j3	A	G	2: 86,028,917 (GRCm39)	Y60H	probably damaging	Het
Or9a7	G	T	6: 40,521,829 (GRCm39)	A28E	probably damaging	Het
Orc5	A	G	5: 22,728,582 (GRCm39)	F308L	probably benign	Het
Padi1	T	A	4: 140,559,715 (GRCm39)	Y54F	probably benign	Het
Parp1	A	G	1: 180,396,665 (GRCm39)	K23E	possibly damaging	Het
Pate1	A	T	9: 35,597,268 (GRCm39)	V79D	possibly damaging	Het
Pcdh18	T	C	3: 49,711,309 (GRCm39)	H2R	probably benign	Het
Pcnx2	G	A	8: 126,613,822 (GRCm39)	S543F	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pnkp	T	A	7: 44,509,158 (GRCm39)	F169L	probably damaging	Het
Ppp6r3	A	T	19: 3,557,325 (GRCm39)	N254K	probably damaging	Het
Psd	A	G	19: 46,312,893 (GRCm39)	L159P	probably benign	Het
Ptprf	A	G	4: 118,088,866 (GRCm39)	Y646H	probably damaging	Het
Rab3ip	A	T	10: 116,773,538 (GRCm39)	S92T	probably benign	Het
Rabgef1	A	G	5: 130,216,192 (GRCm39)		probably benign	Het
Ralgapa1	C	A	12: 55,755,789 (GRCm39)	W1129L	probably damaging	Het
Rhpn2	T	A	7: 35,084,888 (GRCm39)	L594Q	probably benign	Het
Rnf38	C	A	4: 44,158,989 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,753,080 (GRCm39)	H1747L	possibly damaging	Het
Sec16a	A	G	2: 26,329,729 (GRCm39)	L13P	unknown	Het
Spef1l	A	T	7: 139,558,458 (GRCm39)		probably null	Het
Sppl3	C	A	5: 115,220,394 (GRCm39)	T102K	probably damaging	Het
Srgap2	A	T	1: 131,219,351 (GRCm39)	Y264*	probably null	Het
Stxbp2	T	C	8: 3,691,151 (GRCm39)	M465T		Het
Sumf2	A	G	5: 129,891,551 (GRCm39)	K305R	probably benign	Het
Susd2	T	A	10: 75,478,399 (GRCm39)	Y59F	probably benign	Het
Taco1	T	C	11: 105,963,443 (GRCm39)	V198A	probably benign	Het
Tas2r136	A	T	6: 132,754,869 (GRCm39)	M86K	possibly damaging	Het
Tbc1d10c	T	C	19: 4,234,897 (GRCm39)	E388G	possibly damaging	Het
Tmem132c	C	T	5: 127,641,123 (GRCm39)	T1098I	possibly damaging	Het
Trim3	G	T	7: 105,267,007 (GRCm39)	Y457*	probably null	Het
Ttc38	A	G	15: 85,737,062 (GRCm39)	T316A	probably benign	Het
Ubqln4	T	A	3: 88,463,217 (GRCm39)	N127K	probably benign	Het
Wdr91	A	T	6: 34,881,561 (GRCm39)	F262Y	probably damaging	Het
Zdhhc6	A	T	19: 55,291,187 (GRCm39)	C343S	possibly damaging	Het
Zfp248	A	G	6: 118,407,170 (GRCm39)	C140R	probably damaging	Het
Zfp266	T	C	9: 20,413,391 (GRCm39)	T90A	probably benign	Het
Zfp407	A	T	18: 84,577,167 (GRCm39)	D1315E	possibly damaging	Het
Zfp644	T	C	5: 106,786,143 (GRCm39)	S135G	probably benign	Het
Zscan29	A	T	2: 120,991,469 (GRCm39)	I773N	probably damaging	Het
Zswim5	T	A	4: 116,838,031 (GRCm39)	V787E	possibly 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
R7404:Fgfr1	UTSW	8	26,045,566 (GRCm39)	missense	probably benign
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'- TCAAGCAGTTGGTGGAAGACC -3'
(R):5'- AGGCAGTGTGTCCAACAAG -3'

Sequencing Primer
(F):5'- AAGACCTGGACCGCATTGTG -3'
(R):5'- TGTGTCCAACAAGGGGATTG -3'

Posted On

2019-09-13