Mutagenetix > Incidental Mutation

Incidental Mutation 'R0730:Fgfr1'

67466

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

038911-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0730 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26008808-26067819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26045760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 123 (D123N)

Ref Sequence

ENSEMBL: ENSMUSP00000136640 (fasta)

Gene Model

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

AlphaFold

P16092

Predicted Effect

probably benign
Transcript: ENSMUST00000084027
AA Change: D110N

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

SMART Domains

Protein: ENSMUSP00000081041
Gene: ENSMUSG00000031565
AA Change: D110N

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: D110N

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

SMART Domains

Protein: ENSMUSP00000113909
Gene: ENSMUSG00000031565
AA Change: D110N

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

SMART Domains

Protein: ENSMUSP00000116564
Gene: ENSMUSG00000031565

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126122

Predicted Effect

unknown
Transcript: ENSMUST00000138104
AA Change: D43N

Predicted Effect

probably benign
Transcript: ENSMUST00000138455

Predicted Effect

probably benign
Transcript: ENSMUST00000179592
AA Change: D123N

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

SMART Domains

Protein: ENSMUSP00000136640
Gene: ENSMUSG00000031565
AA Change: D123N

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

noncoding transcript
Transcript: ENSMUST00000210778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140451

Predicted Effect

probably benign
Transcript: ENSMUST00000210846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148322

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: ENSMUST00000155564

SMART Domains

Protein: ENSMUSP00000117884
Gene: ENSMUSG00000031565

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: 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

Meta Mutation Damage Score

0.0766

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.1%

Validation Efficiency

99% (99/100)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	T	8: 25,486,774 (GRCm39)	I168N	probably benign	Het
Adamts20	G	A	15: 94,245,571 (GRCm39)	A577V	probably benign	Het
Agtr1a	A	T	13: 30,565,279 (GRCm39)	S115C	probably damaging	Het
Ankrd11	T	C	8: 123,618,692 (GRCm39)	Y1720C	probably damaging	Het
Ano6	A	T	15: 95,818,252 (GRCm39)	T353S	probably damaging	Het
App	A	G	16: 84,876,840 (GRCm39)	F184L	probably damaging	Het
Arhgef38	T	A	3: 132,843,232 (GRCm39)	Y446F	probably benign	Het
Aspg	T	A	12: 112,078,693 (GRCm39)	Y57*	probably null	Het
Atp1a4	G	A	1: 172,067,774 (GRCm39)		probably benign	Het
Bdp1	G	A	13: 100,195,459 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,531,717 (GRCm39)	S246T	possibly damaging	Het
Brd10	T	A	19: 29,695,381 (GRCm39)	I1438F	probably benign	Het
Bsn	T	A	9: 107,984,011 (GRCm39)	M3348L	unknown	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cacna2d3	T	C	14: 28,704,322 (GRCm39)	I820V	probably benign	Het
Cdc40	A	G	10: 40,720,952 (GRCm39)		probably benign	Het
Cdh23	T	C	10: 60,159,493 (GRCm39)	E2094G	probably damaging	Het
Celsr2	T	A	3: 108,305,922 (GRCm39)	N2061Y	probably damaging	Het
Cfap206	G	A	4: 34,711,391 (GRCm39)	A502V	probably benign	Het
Cfap54	T	C	10: 92,870,599 (GRCm39)	T29A	probably benign	Het
Cfap57	T	C	4: 118,470,117 (GRCm39)		probably null	Het
Chd5	A	G	4: 152,432,441 (GRCm39)	E43G	possibly damaging	Het
Clk1	G	A	1: 58,453,558 (GRCm39)	H343Y	probably benign	Het
Cntn4	A	C	6: 106,527,447 (GRCm39)	K443T	probably damaging	Het
Csn2	G	A	5: 87,842,811 (GRCm39)	A72V	possibly damaging	Het
Ctdp1	T	A	18: 80,493,457 (GRCm39)	H346L	probably benign	Het
Ctif	A	T	18: 75,698,083 (GRCm39)	N192K	probably damaging	Het
Ddr2	G	A	1: 169,823,135 (GRCm39)	A383V	probably benign	Het
Derl3	C	T	10: 75,731,076 (GRCm39)		probably benign	Het
Dgkh	T	C	14: 78,821,919 (GRCm39)	I865V	probably damaging	Het
Dip2b	C	T	15: 100,069,532 (GRCm39)	A619V	probably damaging	Het
Elapor1	T	A	3: 108,376,851 (GRCm39)	H509L	probably benign	Het
Eml1	A	G	12: 108,496,585 (GRCm39)	T614A	possibly damaging	Het
Eogt	G	C	6: 97,092,970 (GRCm39)	Y402*	probably null	Het
Erbb4	A	G	1: 68,298,449 (GRCm39)	V647A	probably damaging	Het
Esm1	G	T	13: 113,350,036 (GRCm39)		probably null	Het
Fbxo31	A	G	8: 122,282,103 (GRCm39)		probably benign	Het
Fbxw5	T	A	2: 25,394,630 (GRCm39)	D201E	possibly damaging	Het
G530012D18Rik	A	C	1: 85,504,757 (GRCm39)		probably benign	Het
Gnat1	G	A	9: 107,556,662 (GRCm39)	T29I	probably damaging	Het
Gtf2ird2	A	T	5: 134,221,597 (GRCm39)	R67*	probably null	Het
Il22b	A	T	10: 118,130,142 (GRCm39)	D87E	probably benign	Het
Kcnq3	T	C	15: 65,867,457 (GRCm39)	T729A	probably benign	Het
Klrc2	A	T	6: 129,635,659 (GRCm39)	S156R	probably damaging	Het
Krt76	A	T	15: 101,795,784 (GRCm39)	L462Q	probably damaging	Het
Lama3	C	A	18: 12,589,907 (GRCm39)		probably benign	Het
Lin28a	A	T	4: 133,735,319 (GRCm39)	S56T	probably damaging	Het
Macf1	A	G	4: 123,276,323 (GRCm39)		probably benign	Het
Macrod2	C	T	2: 142,059,594 (GRCm39)		probably benign	Het
Mansc1	C	T	6: 134,594,424 (GRCm39)		probably benign	Het
Map1b	G	T	13: 99,566,274 (GRCm39)	S2149*	probably null	Het
Mgst1	A	T	6: 138,124,667 (GRCm39)	T34S	probably benign	Het
Mlf2	C	T	6: 124,911,354 (GRCm39)	T123M	probably damaging	Het
Mospd2	C	T	X: 163,731,253 (GRCm39)		probably benign	Het
Mrpl15	A	T	1: 4,847,834 (GRCm39)	V155E	probably damaging	Het
Mstn	A	T	1: 53,100,953 (GRCm39)	Y10F	possibly damaging	Het
Myo1g	C	T	11: 6,470,794 (GRCm39)	V21M	probably damaging	Het
Myom2	T	C	8: 15,149,326 (GRCm39)	I599T	probably benign	Het
Ndc80	A	T	17: 71,803,241 (GRCm39)	N633K	probably benign	Het
Nhs	C	A	X: 160,620,296 (GRCm39)	V1487L	possibly damaging	Het
Npc1	T	C	18: 12,352,382 (GRCm39)	T106A	probably benign	Het
Nup133	C	T	8: 124,675,747 (GRCm39)	V57M	probably benign	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Oprm1	T	C	10: 6,782,652 (GRCm39)		probably benign	Het
Or5j1	T	C	2: 86,879,492 (GRCm39)	I29M	probably benign	Het
Or6c219	T	A	10: 129,780,980 (GRCm39)	H317L	probably benign	Het
Or8j3	A	G	2: 86,029,069 (GRCm39)	V9A	probably benign	Het
Ostf1	C	T	19: 18,581,571 (GRCm39)	V14I	unknown	Het
Pcdhb14	C	A	18: 37,581,921 (GRCm39)	D342E	probably damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pdpr	T	C	8: 111,852,387 (GRCm39)		probably null	Het
Plce1	G	A	19: 38,705,135 (GRCm39)	V847M	probably damaging	Het
Pon3	A	G	6: 5,230,444 (GRCm39)	M288T	probably benign	Het
Psd2	A	T	18: 36,111,627 (GRCm39)	D84V	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgapa1	T	C	12: 55,712,448 (GRCm39)	K1808E	probably damaging	Het
Ramp3	T	C	11: 6,626,476 (GRCm39)		probably benign	Het
Rasgrf1	T	A	9: 89,833,062 (GRCm39)		probably benign	Het
Rictor	A	G	15: 6,803,467 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,775,780 (GRCm39)	I984F	probably benign	Het
Slc1a6	C	T	10: 78,631,842 (GRCm39)	P223S	probably benign	Het
Taar8b	A	C	10: 23,967,924 (GRCm39)	V90G	probably damaging	Het
Tbc1d21	A	G	9: 58,267,160 (GRCm39)	V327A	probably benign	Het
Tex21	T	C	12: 76,250,940 (GRCm39)	T499A	probably benign	Het
Tg	A	T	15: 66,550,638 (GRCm39)	D256V	probably damaging	Het
Tmf1	A	G	6: 97,153,453 (GRCm39)	S207P	probably benign	Het
Tpr	A	G	1: 150,269,158 (GRCm39)		probably benign	Het
Ufd1	A	G	16: 18,633,637 (GRCm39)	T21A	probably damaging	Het
Unc13a	T	C	8: 72,108,929 (GRCm39)	D115G	possibly damaging	Het
Usb1	T	A	8: 96,070,669 (GRCm39)	F198L	probably damaging	Het
Utrn	A	T	10: 12,573,902 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,233,276 (GRCm39)	N954S	probably damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Wdr33	C	T	18: 31,968,429 (GRCm39)		probably benign	Het
Zfp236	A	G	18: 82,658,369 (GRCm39)		probably benign	Het
Zfp445	A	T	9: 122,690,823 (GRCm39)	V124E	probably damaging	Het
Zfp616	A	T	11: 73,975,648 (GRCm39)	H639L	probably damaging	Het
Zfyve16	C	A	13: 92,657,985 (GRCm39)	S642I	probably damaging	Het
Zswim5	C	T	4: 116,842,943 (GRCm39)	T896I	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
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
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'- GCGATGATGTGCAGAGCATCAAC -3'
(R):5'- GGACTGCTGTGCTGGAGAAATGAC -3'

Sequencing Primer
(F):5'- AGAGCATCAACTGGCTGC -3'
(R):5'- CATAATCACCTCTGAGGTAGGTC -3'

Posted On

2013-09-03