Mutagenetix > Incidental Mutation

Incidental Mutation 'R7498:Fgfr3'

581201

Institutional Source

Beutler Lab

Gene Symbol

Fgfr3

Ensembl Gene

ENSMUSG00000054252

Gene Name

fibroblast growth factor receptor 3

Synonyms

sam3, Fgfr-3, HBGFR

MMRRC Submission

045571-MU

Accession Numbers

Essential gene?

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

Stock #

R7498 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

33879068-33894412 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GGACCTCTCCGTG to GG at 33892766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005431] [ENSMUST00000067150] [ENSMUST00000087820] [ENSMUST00000114411] [ENSMUST00000164207] [ENSMUST00000169212] [ENSMUST00000171509] [ENSMUST00000201295] [ENSMUST00000202138]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000005431

SMART Domains

Protein: ENSMUSP00000005431
Gene: ENSMUSG00000005299

Domain	Start	End	E-Value	Type
low complexity region	10	30	N/A	INTRINSIC
low complexity region	120	135	N/A	INTRINSIC
Pfam:LETM1	152	417	1.2e-111	PFAM
coiled coil region	445	493	N/A	INTRINSIC
low complexity region	503	513	N/A	INTRINSIC
coiled coil region	537	598	N/A	INTRINSIC
SCOP:d1c7va_	647	691	4e-3	SMART
coiled coil region	708	738	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000067150

SMART Domains

Protein: ENSMUSP00000070998
Gene: ENSMUSG00000054252

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 null
Transcript: ENSMUST00000087820

SMART Domains

Protein: ENSMUSP00000085122
Gene: ENSMUSG00000054252

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

probably null
Transcript: ENSMUST00000114411

SMART Domains

Protein: ENSMUSP00000110053
Gene: ENSMUSG00000054252

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 null
Transcript: ENSMUST00000164207

SMART Domains

Protein: ENSMUSP00000133064
Gene: ENSMUSG00000054252

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

probably null
Transcript: ENSMUST00000169212

SMART Domains

Protein: ENSMUSP00000130856
Gene: ENSMUSG00000054252

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 null
Transcript: ENSMUST00000171509

SMART Domains

Protein: ENSMUSP00000131845
Gene: ENSMUSG00000054252

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 null
Transcript: ENSMUST00000202138

SMART Domains

Protein: ENSMUSP00000143945
Gene: ENSMUSG00000054252

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

probably benign
Transcript: ENSMUST00000202791

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,498,012 (GRCm39)	E148K	unknown	Het
Adgrl2	T	A	3: 148,564,852 (GRCm39)	K243*	probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ahnak	A	T	19: 8,989,383 (GRCm39)	I3556F	probably benign	Het
Akap6	C	T	12: 53,189,488 (GRCm39)	R2301*	probably null	Het
Alg6	A	G	4: 99,636,933 (GRCm39)	T305A	probably damaging	Het
Alpk1	C	T	3: 127,473,427 (GRCm39)	A859T	probably benign	Het
Apba3	T	A	10: 81,104,735 (GRCm39)	F3I	possibly damaging	Het
Birc6	A	G	17: 74,967,465 (GRCm39)	E4151G	probably damaging	Het
Bmp2k	T	A	5: 97,235,978 (GRCm39)	F1134I	probably benign	Het
C6	A	T	15: 4,792,846 (GRCm39)	H317L	probably damaging	Het
Catsperg2	G	A	7: 29,416,527 (GRCm39)	S295L	possibly damaging	Het
Ccdc142	G	T	6: 83,080,212 (GRCm39)	R385L	possibly damaging	Het
Ciz1	A	T	2: 32,261,761 (GRCm39)	M482L	probably benign	Het
Crisp3	A	G	17: 40,536,693 (GRCm39)		probably null	Het
Dcaf15	G	A	8: 84,828,392 (GRCm39)	P233S	probably damaging	Het
Def8	A	G	8: 124,174,583 (GRCm39)	N16S	probably damaging	Het
Dnah7b	T	G	1: 46,364,925 (GRCm39)	S3569A	probably damaging	Het
Dok6	C	T	18: 89,787,443 (GRCm39)		probably benign	Het
Dop1a	A	T	9: 86,376,464 (GRCm39)	T233S	possibly damaging	Het
Ep300	T	A	15: 81,524,044 (GRCm39)	V1325D	unknown	Het
Fancm	T	A	12: 65,146,165 (GRCm39)	H629Q	probably benign	Het
Fbxo10	T	C	4: 45,062,194 (GRCm39)	S111G	probably benign	Het
Fbxo21	T	C	5: 118,140,239 (GRCm39)		probably null	Het
Fdx1	A	C	9: 51,859,898 (GRCm39)	L144R	probably damaging	Het
Flot2	G	A	11: 77,944,188 (GRCm39)		probably null	Het
Fndc10	C	T	4: 155,779,195 (GRCm39)	R80C	probably damaging	Het
Fut8	A	T	12: 77,459,708 (GRCm39)	T274S	probably benign	Het
Gli2	T	C	1: 118,763,565 (GRCm39)	M1529V	possibly damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Hdlbp	T	A	1: 93,341,337 (GRCm39)	H1007L	probably benign	Het
Hmcn2	A	C	2: 31,273,487 (GRCm39)		probably null	Het
Inhbb	C	T	1: 119,345,608 (GRCm39)	R227H	probably damaging	Het
Kifc1	A	G	17: 34,102,846 (GRCm39)	F256L	probably benign	Het
Lman2	A	T	13: 55,494,790 (GRCm39)	F326Y	probably damaging	Het
Mcmdc2	T	C	1: 9,989,302 (GRCm39)	V242A	probably benign	Het
Mettl8	A	C	2: 70,795,969 (GRCm39)	V306G	probably damaging	Het
Mog	A	T	17: 37,322,984 (GRCm39)		probably null	Het
Morc2b	G	A	17: 33,356,833 (GRCm39)	A313V	possibly damaging	Het
Myh3	A	G	11: 66,987,874 (GRCm39)	N1449S	possibly damaging	Het
Myh8	C	A	11: 67,174,263 (GRCm39)	T200K	possibly damaging	Het
Myo16	T	A	8: 10,450,589 (GRCm39)	H530Q	unknown	Het
Neb	C	T	2: 52,148,188 (GRCm39)	R2686H	probably damaging	Het
Nudt2	T	C	4: 41,480,539 (GRCm39)	F141L	possibly damaging	Het
Obscn	G	A	11: 58,973,539 (GRCm39)	H1931Y	probably damaging	Het
Odad3	A	G	9: 21,913,553 (GRCm39)	I73T	probably damaging	Het
Or10al5	A	G	17: 38,063,242 (GRCm39)	T166A	probably damaging	Het
Or2d4	A	T	7: 106,543,575 (GRCm39)	V211D	possibly damaging	Het
Or5p80	T	A	7: 108,229,623 (GRCm39)	C141*	probably null	Het
Plcb1	T	A	2: 135,104,153 (GRCm39)	L274*	probably null	Het
Plcb1	G	T	2: 135,104,154 (GRCm39)	L274F	probably damaging	Het
Potefam3d	A	C	8: 69,972,475 (GRCm39)	Y91*	probably null	Het
Prc1	C	T	7: 79,962,898 (GRCm39)	T564M	possibly damaging	Het
Psd4	G	A	2: 24,296,996 (GRCm39)	R923Q	probably damaging	Het
Ptprj	G	A	2: 90,266,909 (GRCm39)	Q1300*	probably null	Het
Rapgef6	G	T	11: 54,510,830 (GRCm39)	R249L	probably damaging	Het
Slain1	G	A	14: 103,893,429 (GRCm39)		probably null	Het
Slfn9	A	T	11: 82,873,013 (GRCm39)	I630N	probably damaging	Het
Smg6	G	A	11: 74,819,932 (GRCm39)	A68T	probably benign	Het
Spata31h1	T	A	10: 82,127,113 (GRCm39)	T1966S	probably benign	Het
Spef2	T	A	15: 9,727,625 (GRCm39)	M153L	probably benign	Het
St8sia4	T	A	1: 95,519,418 (GRCm39)	M357L	probably benign	Het
Tal1	A	T	4: 114,925,879 (GRCm39)	H316L	possibly damaging	Het
Tenm4	A	G	7: 96,497,224 (GRCm39)	E1207G	probably damaging	Het
Tmem64	C	A	4: 15,266,176 (GRCm39)	H75Q	probably benign	Het
Tor4a	A	G	2: 25,085,804 (GRCm39)	V33A	probably benign	Het
Traj52	C	T	14: 54,402,818 (GRCm39)	T15I		Het
Trim50	G	A	5: 135,392,768 (GRCm39)	V228M	probably benign	Het
Trpm1	A	T	7: 63,858,657 (GRCm39)	I360F	possibly damaging	Het
Trpm6	A	T	19: 18,853,484 (GRCm39)	R1835W	probably damaging	Het
Ubn1	T	C	16: 4,894,969 (GRCm39)	S672P	probably damaging	Het
Ugt2a2	C	T	5: 87,622,500 (GRCm39)	C156Y	probably damaging	Het
Wnk1	T	C	6: 119,904,157 (GRCm39)	S2223G	unknown	Het
Wnt7b	G	T	15: 85,427,880 (GRCm39)	A194E	probably damaging	Het
Zmpste24	A	G	4: 120,940,028 (GRCm39)	V206A	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
R7319:Fgfr3	UTSW	5	33,885,146 (GRCm39)	missense	possibly damaging	0.88
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
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'- TAGACCGCATCCTCACTGTG -3'
(R):5'- GTCCGCGTAAACATTGCCTG -3'

Sequencing Primer
(F):5'- TCCTCACTGTGACATCAACCG -3'
(R):5'- GCCTGGGGCTTGGTCTG -3'

Posted On

2019-10-17