Mutagenetix > Incidental Mutation

Incidental Mutation 'R7319:Fgfr3'

568045

Institutional Source

Beutler Lab

Gene Symbol

Fgfr3

Ensembl Gene

ENSMUSG00000054252

Gene Name

fibroblast growth factor receptor 3

Synonyms

sam3, Fgfr-3, HBGFR

MMRRC Submission

045415-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.356) question?

Stock #

R7319 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33879068-33894412 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33885146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 87 (V87M)

Ref Sequence

ENSEMBL: ENSMUSP00000070998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067150] [ENSMUST00000087820] [ENSMUST00000114411] [ENSMUST00000155002] [ENSMUST00000164207] [ENSMUST00000169212] [ENSMUST00000171509] [ENSMUST00000201295] [ENSMUST00000201437] [ENSMUST00000202138]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067150
AA Change: V87M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070998
Gene: ENSMUSG00000054252
AA Change: V87M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	50	114	5.01e-4	SMART
low complexity region	125	144	N/A	INTRINSIC
IGc2	161	229	1.2e-15	SMART
IGc2	260	340	3.28e-8	SMART
transmembrane domain	367	389	N/A	INTRINSIC
TyrKc	466	742	3.14e-153	SMART
low complexity region	765	781	N/A	INTRINSIC
low complexity region	789	798	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000087820
AA Change: V87M

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000085122
Gene: ENSMUSG00000054252
AA Change: V87M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	50	114	5.01e-4	SMART
IGc2	143	211	1.2e-15	SMART
IGc2	242	322	3.28e-8	SMART
transmembrane domain	349	371	N/A	INTRINSIC
TyrKc	448	724	3.14e-153	SMART
low complexity region	747	763	N/A	INTRINSIC
low complexity region	771	780	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114411
AA Change: V87M

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110053
Gene: ENSMUSG00000054252
AA Change: V87M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	50	114	5.01e-4	SMART
low complexity region	125	144	N/A	INTRINSIC
IGc2	161	229	1.2e-15	SMART
IGc2	260	339	2.77e-6	SMART
transmembrane domain	369	391	N/A	INTRINSIC
TyrKc	468	744	3.14e-153	SMART
low complexity region	767	783	N/A	INTRINSIC
low complexity region	791	800	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155002

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164207
AA Change: V87M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133064
Gene: ENSMUSG00000054252
AA Change: V87M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	50	114	5.01e-4	SMART
low complexity region	125	144	N/A	INTRINSIC
IGc2	161	229	1.2e-15	SMART
IGc2	260	340	3.28e-8	SMART
transmembrane domain	367	389	N/A	INTRINSIC
TyrKc	467	743	3.14e-153	SMART
low complexity region	766	782	N/A	INTRINSIC
low complexity region	790	799	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169212
AA Change: V87M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130856
Gene: ENSMUSG00000054252
AA Change: V87M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	50	114	5.01e-4	SMART
low complexity region	125	144	N/A	INTRINSIC
IGc2	161	229	1.2e-15	SMART
IGc2	260	340	3.28e-8	SMART
transmembrane domain	367	389	N/A	INTRINSIC
TyrKc	466	742	3.14e-153	SMART
low complexity region	765	781	N/A	INTRINSIC
low complexity region	789	798	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171509
AA Change: V87M

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131845
Gene: ENSMUSG00000054252
AA Change: V87M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	50	114	5.01e-4	SMART
low complexity region	125	144	N/A	INTRINSIC
IGc2	161	229	1.2e-15	SMART
IGc2	260	339	2.77e-6	SMART
transmembrane domain	369	391	N/A	INTRINSIC
TyrKc	468	744	3.14e-153	SMART
low complexity region	767	783	N/A	INTRINSIC
low complexity region	791	800	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181298

Predicted Effect

probably benign
Transcript: ENSMUST00000201295

SMART Domains

Protein: ENSMUSP00000144104
Gene: ENSMUSG00000054252

Domain	Start	End	E-Value	Type
IG	11	71	1.9e-3	SMART
transmembrane domain	90	112	N/A	INTRINSIC
PDB:2PSQ\|B	126	223	2e-30	PDB
Blast:IG_like	140	223	2e-51	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000201437
AA Change: V87M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144379
Gene: ENSMUSG00000054252
AA Change: V87M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	50	114	2e-6	SMART
Pfam:Ig_3	144	194	2.1e-3	PFAM
Pfam:I-set	153	194	9.2e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202138
AA Change: V87M

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143945
Gene: ENSMUSG00000054252
AA Change: V87M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	50	114	5.01e-4	SMART
IGc2	143	211	1.2e-15	SMART
IGc2	242	322	3.28e-8	SMART
transmembrane domain	349	371	N/A	INTRINSIC
TyrKc	448	724	3.14e-153	SMART
low complexity region	747	763	N/A	INTRINSIC
low complexity region	771	780	N/A	INTRINSIC

Predicted Effect

Coding Region Coverage

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

Validation Efficiency

96% (79/82)

MGI Phenotype

FUNCTION: This gene encodes a member of the fibroblast growth factor receptor family. Members of this family are highly conserved proteins that differ from one another in their ligand affinities and tissue distribution. A 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 family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene may be associated with craniosynostosis and multiple types of skeletal dysplasia. A pseudogene of this gene is located on chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]
PHENOTYPE: Mutant alleles generally cause skeletal deformities, with some causing decreased body size, premature death, or hearing loss due to developmental defects of the ear. [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
9930012K11Rik	A	T	14: 70,393,635 (GRCm39)	I287N	probably benign	Het
Aco2	G	T	15: 81,787,820 (GRCm39)	E223D	probably damaging	Het
Acsf3	T	A	8: 123,539,770 (GRCm39)	I466N	probably damaging	Het
Albfm1	G	A	5: 90,719,625 (GRCm39)		probably null	Het
Aox3	T	A	1: 58,191,761 (GRCm39)	F438I	probably benign	Het
Arhgap33	T	C	7: 30,225,794 (GRCm39)	T591A	probably benign	Het
Ash1l	C	T	3: 88,888,694 (GRCm39)	A191V	probably benign	Het
Btg2	T	C	1: 134,006,779 (GRCm39)	K5E	probably benign	Het
C1galt1	T	A	6: 7,871,150 (GRCm39)	Y329N	probably damaging	Het
Cacna1h	A	G	17: 25,608,435 (GRCm39)	I824T	possibly damaging	Het
Carmil3	A	G	14: 55,731,817 (GRCm39)	I182V	probably benign	Het
Ccdc150	T	A	1: 54,302,496 (GRCm39)		probably null	Het
Chek1	T	A	9: 36,633,939 (GRCm39)	R129W	probably damaging	Het
Chrna6	A	G	8: 27,896,815 (GRCm39)	M354T	possibly damaging	Het
Cpq	A	G	15: 33,250,185 (GRCm39)	T181A	probably benign	Het
Csmd2	A	T	4: 128,287,472 (GRCm39)	Y1069F		Het
Defb28	T	A	2: 152,361,974 (GRCm39)	C45S	possibly damaging	Het
Dnah1	A	G	14: 31,018,551 (GRCm39)	Y1360H	probably benign	Het
Dnah7c	T	C	1: 46,823,608 (GRCm39)	V3749A	possibly damaging	Het
Dnah7c	T	A	1: 46,819,935 (GRCm39)	D3728E	probably benign	Het
Dym	G	A	18: 75,196,245 (GRCm39)		probably null	Het
Dync2i2	G	A	2: 29,928,341 (GRCm39)	P95L	probably benign	Het
Dzip3	A	G	16: 48,747,903 (GRCm39)		probably null	Het
Eef1akmt4	A	G	16: 20,436,666 (GRCm39)	K163E	probably benign	Het
Fbrs	A	G	7: 127,081,985 (GRCm39)	T242A	possibly damaging	Het
Fst	A	T	13: 114,595,068 (GRCm39)	C19S	probably benign	Het
Gm7276	G	A	18: 77,273,216 (GRCm39)	R173W	unknown	Het
Gm9195	G	A	14: 72,697,929 (GRCm39)	H1284Y	probably benign	Het
Herc6	C	A	6: 57,581,074 (GRCm39)	T258K	probably damaging	Het
Hip1r	A	G	5: 124,137,174 (GRCm39)	Y678C	probably damaging	Het
Ifne	A	T	4: 88,798,243 (GRCm39)	N58K	probably damaging	Het
Ighv1-26	A	T	12: 114,752,163 (GRCm39)	H60Q	possibly damaging	Het
Ints1	A	G	5: 139,746,520 (GRCm39)	F1276L	probably damaging	Het
Itprid2	A	T	2: 79,466,416 (GRCm39)	D82V	probably damaging	Het
Kcnc4	T	A	3: 107,366,100 (GRCm39)	E36V	probably benign	Het
Kcnq2	C	T	2: 180,750,895 (GRCm39)	G315S	probably damaging	Het
Kdm4c	G	A	4: 74,255,200 (GRCm39)	V585M	probably damaging	Het
Klhl26	C	T	8: 70,905,592 (GRCm39)	R106H	probably damaging	Het
Kmo	T	C	1: 175,481,221 (GRCm39)	F313S	probably damaging	Het
Lmtk3	T	A	7: 45,443,740 (GRCm39)	S808T	unknown	Het
Lrch3	A	G	16: 32,815,363 (GRCm39)	T585A	probably benign	Het
Lrch4	T	A	5: 137,637,977 (GRCm39)	H86Q		Het
Map3k20	A	G	2: 72,195,062 (GRCm39)	D113G	probably damaging	Het
Mbd3l1	T	C	9: 18,396,417 (GRCm39)	S181P	probably benign	Het
Mccc2	T	C	13: 100,104,241 (GRCm39)	T303A	probably benign	Het
Med27	A	G	2: 29,303,490 (GRCm39)	R147G	possibly damaging	Het
Mrps5	T	A	2: 127,437,762 (GRCm39)	S196R	possibly damaging	Het
Muc21	GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG	GGGGTGGG	17: 35,932,935 (GRCm39)		probably benign	Het
Myo16	A	T	8: 10,526,185 (GRCm39)		probably null	Het
Nudt2	A	T	4: 41,477,575 (GRCm39)	M19L	probably benign	Het
Pcdha11	C	T	18: 37,146,245 (GRCm39)	P779S	probably benign	Het
Phykpl	A	G	11: 51,489,530 (GRCm39)	T379A	probably benign	Het
Plekha8	A	C	6: 54,601,206 (GRCm39)	M270L	probably benign	Het
Plekhg5	A	G	4: 152,192,885 (GRCm39)	H593R	probably benign	Het
Polr2a	T	C	11: 69,637,196 (GRCm39)	N293S	possibly damaging	Het
Pramel32	G	A	4: 88,548,184 (GRCm39)	P74S	probably benign	Het
Prex2	T	A	1: 11,232,532 (GRCm39)	N866K	probably benign	Het
Psme4	A	T	11: 30,757,790 (GRCm39)	I308L	probably benign	Het
Ptprb	T	C	10: 116,177,309 (GRCm39)	V1003A	probably benign	Het
Rbbp8	T	A	18: 11,865,269 (GRCm39)	D719E	probably damaging	Het
Rnaset2b	A	T	17: 7,259,166 (GRCm39)	D144V	probably benign	Het
Senp6	T	G	9: 80,033,481 (GRCm39)	D662E	probably damaging	Het
Serpinb3c	T	C	1: 107,200,817 (GRCm39)	N200S	possibly damaging	Het
Serpinb9g	C	G	13: 33,672,543 (GRCm39)	Y113*	probably null	Het
Sgf29	T	C	7: 126,270,821 (GRCm39)	I134T	probably benign	Het
Sh3bp4	T	G	1: 89,080,824 (GRCm39)		probably null	Het
Stab1	G	A	14: 30,862,783 (GRCm39)	L2243F	probably damaging	Het
Sympk	T	C	7: 18,769,770 (GRCm39)	V149A	probably benign	Het
Syt3	C	T	7: 44,041,953 (GRCm39)	Q271*	probably null	Het
Tas2r109	A	G	6: 132,957,663 (GRCm39)	I89T	probably benign	Het
Tgif1	A	G	17: 71,151,847 (GRCm39)	S255P	probably damaging	Het
Tm9sf1	G	A	14: 55,875,432 (GRCm39)		probably benign	Het
Tnf	A	G	17: 35,419,347 (GRCm39)	F161S	possibly damaging	Het
Topaz1	T	A	9: 122,579,428 (GRCm39)	S779R	possibly damaging	Het
Topors	A	G	4: 40,260,540 (GRCm39)	S915P	unknown	Het
Tpm4	C	T	8: 72,900,321 (GRCm39)	L161F	probably damaging	Het
Trim38	C	T	13: 23,975,384 (GRCm39)	T441I	probably damaging	Het
Trpv1	A	G	11: 73,141,620 (GRCm39)	M548V	probably benign	Het
Vmn2r68	T	A	7: 84,883,042 (GRCm39)	T237S	probably benign	Het
Zc3hav1	A	G	6: 38,309,209 (GRCm39)	S538P	probably benign	Het
Zfp541	C	T	7: 15,813,294 (GRCm39)	T649I	probably benign	Het

Other mutations in Fgfr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00705:Fgfr3	APN	5	33,892,484 (GRCm39)	missense	possibly damaging	0.57
IGL01585:Fgfr3	APN	5	33,891,305 (GRCm39)	missense	probably damaging	0.96
IGL03266:Fgfr3	APN	5	33,891,709 (GRCm39)	missense	probably damaging	1.00
IGL03285:Fgfr3	APN	5	33,892,557 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Fgfr3	UTSW	5	33,889,576 (GRCm39)	missense	probably benign	0.13
R0543:Fgfr3	UTSW	5	33,887,054 (GRCm39)	start codon destroyed	probably null	0.00
R0604:Fgfr3	UTSW	5	33,890,126 (GRCm39)	missense	probably damaging	0.99
R1496:Fgfr3	UTSW	5	33,887,094 (GRCm39)	missense	probably damaging	0.96
R1861:Fgfr3	UTSW	5	33,887,090 (GRCm39)	missense	probably damaging	1.00
R2919:Fgfr3	UTSW	5	33,891,284 (GRCm39)	missense	probably damaging	1.00
R2920:Fgfr3	UTSW	5	33,891,284 (GRCm39)	missense	probably damaging	1.00
R4361:Fgfr3	UTSW	5	33,880,676 (GRCm39)	intron	probably benign
R4506:Fgfr3	UTSW	5	33,887,343 (GRCm39)	missense	probably damaging	1.00
R4513:Fgfr3	UTSW	5	33,880,460 (GRCm39)	intron	probably benign
R4647:Fgfr3	UTSW	5	33,892,330 (GRCm39)	unclassified	probably benign
R5240:Fgfr3	UTSW	5	33,887,382 (GRCm39)	missense	probably damaging	1.00
R5251:Fgfr3	UTSW	5	33,892,900 (GRCm39)	unclassified	probably benign
R5454:Fgfr3	UTSW	5	33,880,642 (GRCm39)	intron	probably benign
R5595:Fgfr3	UTSW	5	33,887,347 (GRCm39)	missense	probably damaging	1.00
R5984:Fgfr3	UTSW	5	33,887,049 (GRCm39)	missense	probably damaging	1.00
R6753:Fgfr3	UTSW	5	33,889,503 (GRCm39)	missense	probably benign	0.35
R6985:Fgfr3	UTSW	5	33,892,785 (GRCm39)	missense	probably null	1.00
R7106:Fgfr3	UTSW	5	33,888,758 (GRCm39)	missense	probably damaging	1.00
R7221:Fgfr3	UTSW	5	33,890,092 (GRCm39)	frame shift	probably null
R7373:Fgfr3	UTSW	5	33,885,034 (GRCm39)	missense	probably benign	0.00
R7497:Fgfr3	UTSW	5	33,892,766 (GRCm39)	frame shift	probably null
R7498:Fgfr3	UTSW	5	33,892,766 (GRCm39)	frame shift	probably null
R7499:Fgfr3	UTSW	5	33,892,766 (GRCm39)	frame shift	probably null
R7883:Fgfr3	UTSW	5	33,891,235 (GRCm39)	missense	probably damaging	1.00
R8129:Fgfr3	UTSW	5	33,891,250 (GRCm39)	missense	probably damaging	0.98
R8179:Fgfr3	UTSW	5	33,885,099 (GRCm39)	missense	probably benign	0.00
R8422:Fgfr3	UTSW	5	33,892,249 (GRCm39)	nonsense	probably null
R8935:Fgfr3	UTSW	5	33,892,810 (GRCm39)	missense	probably damaging	1.00
R9179:Fgfr3	UTSW	5	33,887,316 (GRCm39)	missense	possibly damaging	0.78
R9368:Fgfr3	UTSW	5	33,885,216 (GRCm39)	missense	probably benign
R9414:Fgfr3	UTSW	5	33,887,298 (GRCm39)	missense	possibly damaging	0.81
R9689:Fgfr3	UTSW	5	33,892,248 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCATAGTGTCCCATTTACTCCACAG -3'
(R):5'- ATCTTAGGCCAGGGATGCTG -3'

Sequencing Primer
(F):5'- ATTTACTCCACAGAGGTTCCAGGG -3'
(R):5'- GAGTGTCCTGATCTCCTTGGCTATAC -3'

Posted On

2019-06-26