Mutagenetix > Incidental Mutations

Incidental Mutation 'R4718:Fgfr2'

354218

Institutional Source

Beutler Lab

Gene Symbol

Fgfr2

Ensembl Gene

ENSMUSG00000030849

Gene Name

fibroblast growth factor receptor 2

Synonyms

Fgfr-2, KGFRTr, Bek, Fgfr7, Fgfr-7, svs

MMRRC Submission

041985-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4718 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130162451-133123350 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130261788 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 24 (S24P)

Ref Sequence

ENSEMBL: ENSMUSP00000113474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117073] [ENSMUST00000117089] [ENSMUST00000117357] [ENSMUST00000117691] [ENSMUST00000117754] [ENSMUST00000117858] [ENSMUST00000117872] [ENSMUST00000118296] [ENSMUST00000119260] [ENSMUST00000120141] [ENSMUST00000120187] [ENSMUST00000120715] [ENSMUST00000121064] [ENSMUST00000121080] [ENSMUST00000122054] [ENSMUST00000122448] [ENSMUST00000124096] [ENSMUST00000153166]

Predicted Effect

probably benign
Transcript: ENSMUST00000117073
AA Change: S24P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112672
Gene: ENSMUSG00000030849
AA Change: S24P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	55	123	4.66e-13	SMART
IGc2	154	234	7.41e-7	SMART
transmembrane domain	260	282	N/A	INTRINSIC
low complexity region	314	323	N/A	INTRINSIC
TyrKc	364	640	4.38e-152	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117089
AA Change: S24P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112992
Gene: ENSMUSG00000030849
AA Change: S24P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	31	40	N/A	INTRINSIC
IGc2	53	114	6.59e-13	SMART
low complexity region	129	146	N/A	INTRINSIC
IGc2	170	238	4.66e-13	SMART
IGc2	269	347	1.9e-4	SMART
transmembrane domain	376	398	N/A	INTRINSIC
low complexity region	430	439	N/A	INTRINSIC
TyrKc	480	756	4.38e-152	SMART
low complexity region	784	798	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117357
AA Change: S24P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112580
Gene: ENSMUSG00000030849
AA Change: S24P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	55	123	4.66e-13	SMART
IGc2	154	232	1.9e-4	SMART
transmembrane domain	261	283	N/A	INTRINSIC
low complexity region	315	324	N/A	INTRINSIC
TyrKc	365	641	4.38e-152	SMART
low complexity region	669	683	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117691
AA Change: S24P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113180
Gene: ENSMUSG00000030849
AA Change: S24P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	31	40	N/A	INTRINSIC
IGc2	53	114	6.59e-13	SMART
low complexity region	129	146	N/A	INTRINSIC
IGc2	170	238	4.66e-13	SMART
IGc2	269	347	1.9e-4	SMART
transmembrane domain	376	398	N/A	INTRINSIC
low complexity region	432	441	N/A	INTRINSIC
TyrKc	482	758	4.38e-152	SMART
low complexity region	786	800	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117754
AA Change: S24P

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113187
Gene: ENSMUSG00000030849
AA Change: S24P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	56	136	7.41e-7	SMART
transmembrane domain	162	184	N/A	INTRINSIC
low complexity region	218	227	N/A	INTRINSIC
TyrKc	268	544	4.38e-152	SMART
low complexity region	572	586	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117858
AA Change: S24P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112623
Gene: ENSMUSG00000030849
AA Change: S24P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	31	40	N/A	INTRINSIC
IGc2	53	114	6.59e-13	SMART
low complexity region	129	146	N/A	INTRINSIC
IGc2	170	238	4.66e-13	SMART
IGc2	269	347	1.9e-4	SMART
transmembrane domain	376	398	N/A	INTRINSIC
low complexity region	432	441	N/A	INTRINSIC
TyrKc	482	758	4.38e-152	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117872
AA Change: S43P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113994
Gene: ENSMUSG00000030849
AA Change: S43P

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
IGc2	74	142	4.66e-13	SMART
IGc2	173	253	7.41e-7	SMART
transmembrane domain	279	301	N/A	INTRINSIC
low complexity region	333	342	N/A	INTRINSIC
TyrKc	383	659	4.38e-152	SMART
low complexity region	687	701	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118296
AA Change: S24P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112471
Gene: ENSMUSG00000030849
AA Change: S24P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	36	57	N/A	INTRINSIC
IGc2	81	149	4.66e-13	SMART
IGc2	180	258	1.9e-4	SMART
transmembrane domain	287	309	N/A	INTRINSIC
low complexity region	343	352	N/A	INTRINSIC
TyrKc	393	669	4.38e-152	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119260
AA Change: S24P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113010
Gene: ENSMUSG00000030849
AA Change: S24P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	31	40	N/A	INTRINSIC
IGc2	53	114	6.59e-13	SMART
low complexity region	129	146	N/A	INTRINSIC
IGc2	170	238	4.66e-13	SMART
IGc2	269	349	7.41e-7	SMART
transmembrane domain	375	397	N/A	INTRINSIC
low complexity region	429	438	N/A	INTRINSIC
TyrKc	479	755	4.38e-152	SMART
low complexity region	783	797	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120141
AA Change: S24P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113415
Gene: ENSMUSG00000030849
AA Change: S24P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	36	57	N/A	INTRINSIC
IGc2	81	149	4.66e-13	SMART
IGc2	180	258	1.9e-4	SMART
transmembrane domain	287	309	N/A	INTRINSIC
low complexity region	341	350	N/A	INTRINSIC
TyrKc	391	667	4.38e-152	SMART
low complexity region	695	709	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120187
AA Change: S43P

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113248
Gene: ENSMUSG00000030849
AA Change: S43P

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
IGc2	74	142	4.66e-13	SMART
IGc2	173	251	1.9e-4	SMART
transmembrane domain	280	302	N/A	INTRINSIC
low complexity region	336	345	N/A	INTRINSIC
TyrKc	386	662	4.38e-152	SMART
low complexity region	690	704	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120715
AA Change: S24P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113474
Gene: ENSMUSG00000030849
AA Change: S24P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	31	40	N/A	INTRINSIC
IGc2	53	114	6.59e-13	SMART
low complexity region	129	146	N/A	INTRINSIC
IGc2	170	238	4.66e-13	SMART
transmembrane domain	263	285	N/A	INTRINSIC
low complexity region	319	328	N/A	INTRINSIC
TyrKc	369	645	4.38e-152	SMART
low complexity region	673	687	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121064
AA Change: S24P

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113452
Gene: ENSMUSG00000030849
AA Change: S24P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	56	134	1.9e-4	SMART
transmembrane domain	163	185	N/A	INTRINSIC
low complexity region	219	228	N/A	INTRINSIC
TyrKc	269	545	4.38e-152	SMART
low complexity region	573	587	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121080
AA Change: S24P

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

SMART Domains

Protein: ENSMUSP00000112585
Gene: ENSMUSG00000030849
AA Change: S24P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	55	123	4.66e-13	SMART
IGc2	154	232	1.9e-4	SMART
transmembrane domain	261	283	N/A	INTRINSIC
low complexity region	317	326	N/A	INTRINSIC
TyrKc	367	643	4.38e-152	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122054
AA Change: S43P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112430
Gene: ENSMUSG00000030849
AA Change: S43P

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	50	59	N/A	INTRINSIC
IGc2	72	133	6.59e-13	SMART
low complexity region	148	165	N/A	INTRINSIC
IGc2	189	257	4.66e-13	SMART
IGc2	288	368	7.41e-7	SMART
transmembrane domain	394	416	N/A	INTRINSIC
low complexity region	450	459	N/A	INTRINSIC
TyrKc	500	776	4.38e-152	SMART
low complexity region	804	818	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122448
AA Change: S24P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113993
Gene: ENSMUSG00000030849
AA Change: S24P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	55	123	4.66e-13	SMART
IGc2	154	232	1.9e-4	SMART
transmembrane domain	261	283	N/A	INTRINSIC
low complexity region	315	324	N/A	INTRINSIC
TyrKc	365	641	4.38e-152	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129103

Predicted Effect

probably benign
Transcript: ENSMUST00000153166
AA Change: S43P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000120100
Gene: ENSMUSG00000030849
AA Change: S43P

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
low complexity region	50	59	N/A	INTRINSIC
IGc2	72	133	6.59e-13	SMART
low complexity region	148	165	N/A	INTRINSIC
IGc2	189	257	4.66e-13	SMART
SCOP:d1ev2e1	269	311	1e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208844

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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 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 is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for null mutations die as embryos. Isoform IIIb deficient mutants die at birth with defects in multiple organs and tissues. Isoform IIIc deficient mutants have defects in osteoblast and chondrocyte lineages, producing dwarfism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	G	A	5: 114,863,554		probably null	Het
Acsm2	A	T	7: 119,573,603	Y147F	probably damaging	Het
Alg12	A	T	15: 88,806,053	Y413N	probably damaging	Het
Arntl	A	T	7: 113,303,361	I399F	probably damaging	Het
Arrdc3	A	T	13: 80,883,867	Q73L	possibly damaging	Het
Atp13a5	T	C	16: 29,248,170	K1017E	probably damaging	Het
Bms1	T	C	6: 118,403,235	N704D	possibly damaging	Het
Bsph1	T	A	7: 13,472,182	Y47*	probably null	Het
Crat	A	T	2: 30,408,164	Y174*	probably null	Het
Csmd3	G	T	15: 47,698,150	Y2254*	probably null	Het
Cyld	T	A	8: 88,742,305	I568N	probably damaging	Het
Dapl1	T	C	2: 59,484,728	V7A	probably benign	Het
Dhx29	G	A	13: 112,946,935	R508H	unknown	Het
Dnah9	A	G	11: 66,085,473	I1250T	probably benign	Het
Dnajb3	C	T	1: 88,205,339	D114N	probably benign	Het
Dsg1b	A	G	18: 20,397,929	N446D	probably damaging	Het
Dthd1	T	A	5: 62,818,793	V270E	probably damaging	Het
F2rl3	A	C	8: 72,762,908	R254S	possibly damaging	Het
Fam208b	A	T	13: 3,574,495	D1818E	probably benign	Het
Fpr2	T	C	17: 17,893,336	V198A	probably benign	Het
Gbp2b	G	A	3: 142,598,995	G64D	probably damaging	Het
Gbp9	T	G	5: 105,083,758	N321H	probably damaging	Het
Gk2	T	A	5: 97,455,866	Y371F	probably benign	Het
Gm10382	T	C	5: 125,389,398		probably benign	Het
Gpatch3	A	G	4: 133,582,544	D396G	probably benign	Het
Heatr5a	A	C	12: 51,916,163	L985V	possibly damaging	Het
Homer1	T	A	13: 93,391,764	V269E	probably damaging	Het
Hspbap1	T	C	16: 35,787,322	V66A	probably benign	Het
Ighv7-2	A	C	12: 113,912,469	I5M	possibly damaging	Het
Ints7	T	A	1: 191,583,277	F108Y	possibly damaging	Het
Itga7	CT	CTGGGGATT	10: 128,940,734		probably null	Het
Junb	G	A	8: 84,978,432		probably benign	Het
Lcp2	A	G	11: 34,070,992	N116S	probably benign	Het
Lrguk	A	G	6: 34,029,496	T14A	probably benign	Het
Lrrcc1	T	A	3: 14,536,032	H41Q	probably damaging	Het
Ltb	C	A	17: 35,195,337		probably null	Het
Mapk7	A	G	11: 61,489,254	S693P	possibly damaging	Het
Mbd5	A	T	2: 49,256,402	H208L	possibly damaging	Het
Megf9	A	T	4: 70,448,778	S322R	possibly damaging	Het
Mgat4c	T	C	10: 102,388,606	V227A	probably damaging	Het
Mospd3	G	A	5: 137,599,653	T151M	probably benign	Het
Mpl	A	G	4: 118,456,724	S115P	probably benign	Het
Myo6	C	A	9: 80,246,517	D258E	probably benign	Het
N4bp2	G	A	5: 65,803,463	M492I	probably damaging	Het
Ndst3	G	A	3: 123,672,266	A19V	probably benign	Het
Nkx2-3	C	A	19: 43,612,643	T48K	probably benign	Het
Nlrp4f	T	C	13: 65,194,989	T281A	probably benign	Het
Nmur1	A	G	1: 86,387,741	V157A	probably damaging	Het
Obscn	A	T	11: 59,021,954	F6992L	probably damaging	Het
Ocm	G	T	5: 144,024,557	P22Q	possibly damaging	Het
Olfr1105	T	C	2: 87,033,895	T109A	probably damaging	Het
Osbp2	C	A	11: 3,711,793	C753F	probably damaging	Het
Pabpc2	A	G	18: 39,774,503	T274A	probably benign	Het
Pamr1	T	A	2: 102,642,336	I660N	probably damaging	Het
Papola	C	T	12: 105,820,448	T466I	possibly damaging	Het
Pask	T	C	1: 93,322,196	E494G	possibly damaging	Het
Pck1	A	T	2: 173,155,221	I219F	probably damaging	Het
Pgm3	T	C	9: 86,570,395	E4G	probably benign	Het
Pgs1	A	G	11: 118,005,883	H462R	probably damaging	Het
Phlpp2	T	A	8: 109,940,820	M1327K	probably benign	Het
Pkhd1	C	A	1: 20,081,228	G3815W	probably damaging	Het
Plin4	T	A	17: 56,106,981	I215F	possibly damaging	Het
Plod1	T	G	4: 147,916,244		probably benign	Het
Ppfia2	T	C	10: 106,858,285	S707P	probably damaging	Het
Psmd12	A	G	11: 107,486,433	Q86R	probably benign	Het
Rasgrf2	C	A	13: 91,990,830		probably null	Het
Rictor	T	C	15: 6,783,160	S926P	possibly damaging	Het
Rras2	A	T	7: 114,050,349	I160N	probably benign	Het
Slc27a6	A	T	18: 58,605,066	Y398F	probably benign	Het
Speer4f1	A	G	5: 17,480,424	E239G	unknown	Het
Sppl2c	T	C	11: 104,188,315	I647T	probably benign	Het
Sptan1	A	G	2: 30,031,062	Y2467C	probably damaging	Het
Sptbn1	G	T	11: 30,154,297	H136N	probably damaging	Het
Stau2	T	C	1: 16,346,045		probably null	Het
Tet1	T	A	10: 62,813,812	I40F	probably damaging	Het
Tnfaip2	A	G	12: 111,446,029	E288G	possibly damaging	Het
Trav7-5	T	A	14: 53,531,153	H59Q	probably benign	Het
Usp53	T	C	3: 122,933,982	I984V	probably benign	Het
Wdfy4	A	G	14: 33,145,316	I403T	probably benign	Het
Yars2	T	A	16: 16,309,340	M423K	probably benign	Het
Zfp292	A	T	4: 34,819,521	V272D	possibly damaging	Het
Zmynd11	A	T	13: 9,689,567	V478D	possibly damaging	Het

Other mutations in Fgfr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Fgfr2	APN	7	130167711	missense	probably benign	0.45
IGL00594:Fgfr2	APN	7	130228723	missense	probably damaging	1.00
IGL00963:Fgfr2	APN	7	130228761	missense	probably damaging	0.99
IGL01968:Fgfr2	APN	7	130185248	missense	probably damaging	1.00
IGL02003:Fgfr2	APN	7	130219072	missense	probably damaging	1.00
IGL02063:Fgfr2	APN	7	130167755	missense	probably damaging	1.00
IGL02239:Fgfr2	APN	7	130177686	missense	probably damaging	1.00
IGL02349:Fgfr2	APN	7	130242606	missense	probably damaging	1.00
IGL02630:Fgfr2	APN	7	130228795	splice site	probably null
IGL02639:Fgfr2	APN	7	130228802	splice site	probably benign
IGL03058:Fgfr2	APN	7	130182692	missense	probably damaging	1.00
IGL03263:Fgfr2	APN	7	130180419	missense	probably benign	0.12
IGL03377:Fgfr2	APN	7	130198517	missense	probably damaging	0.98
R0048:Fgfr2	UTSW	7	130180488	splice site	probably benign
R0048:Fgfr2	UTSW	7	130180488	splice site	probably benign
R0078:Fgfr2	UTSW	7	130201075	missense	possibly damaging	0.95
R0085:Fgfr2	UTSW	7	130196263	missense	probably damaging	0.99
R0278:Fgfr2	UTSW	7	130261862	unclassified	probably null
R0335:Fgfr2	UTSW	7	130196249	missense	probably benign	0.00
R0557:Fgfr2	UTSW	7	130219081	missense	probably damaging	1.00
R0631:Fgfr2	UTSW	7	130227239	intron	probably benign
R0637:Fgfr2	UTSW	7	130171624	missense	possibly damaging	0.89
R0841:Fgfr2	UTSW	7	130261905	missense	probably benign	0.03
R0841:Fgfr2	UTSW	7	130772007	unclassified	probably benign
R1646:Fgfr2	UTSW	7	130242644	missense	probably damaging	1.00
R1670:Fgfr2	UTSW	7	130180457	missense	probably damaging	1.00
R1678:Fgfr2	UTSW	7	130228620	splice site	probably null
R1950:Fgfr2	UTSW	7	130198481	missense	probably damaging	0.96
R2393:Fgfr2	UTSW	7	130227238	intron	probably null
R3706:Fgfr2	UTSW	7	130198431	missense	probably benign	0.31
R3717:Fgfr2	UTSW	7	130182757	missense	probably damaging	1.00
R3808:Fgfr2	UTSW	7	130199848	missense	probably benign	0.01
R3945:Fgfr2	UTSW	7	130177755	missense	possibly damaging	0.71
R4438:Fgfr2	UTSW	7	130172930	nonsense	probably null
R4779:Fgfr2	UTSW	7	130185193	intron	probably benign
R4925:Fgfr2	UTSW	7	130185272	missense	probably damaging	1.00
R4932:Fgfr2	UTSW	7	130241277	missense	probably damaging	1.00
R4941:Fgfr2	UTSW	7	130198445	missense	probably benign	0.21
R4980:Fgfr2	UTSW	7	130201080	missense	probably damaging	1.00
R5304:Fgfr2	UTSW	7	130167774	missense	probably damaging	1.00
R5313:Fgfr2	UTSW	7	130241240	missense	probably benign	0.01
R5375:Fgfr2	UTSW	7	130241215	missense	possibly damaging	0.65
R5652:Fgfr2	UTSW	7	130261863	missense	probably damaging	1.00
R6120:Fgfr2	UTSW	7	130228690	missense	probably benign	0.24
R6347:Fgfr2	UTSW	7	130261757	missense	probably damaging	1.00
R6375:Fgfr2	UTSW	7	130167745	missense	probably damaging	1.00
R6475:Fgfr2	UTSW	7	130201120	missense	probably benign	0.03
R6481:Fgfr2	UTSW	7	130185278	missense	possibly damaging	0.85
R6494:Fgfr2	UTSW	7	130198550	missense	probably damaging	1.00
R6542:Fgfr2	UTSW	7	130201123	missense	probably benign	0.02
X0024:Fgfr2	UTSW	7	130185329	missense	probably damaging	0.99
Z1088:Fgfr2	UTSW	7	130169799	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGAACTGCCACTGCTTCC -3'
(R):5'- TGAAGGCATTGCAGGTAGC -3'

Sequencing Primer
(F):5'- CTCATGCCTGGGAGACAAGAC -3'
(R):5'- ATTGCAGGTAGCCCATGGTCTC -3'

Posted On

2015-10-21