Mutagenetix > Incidental Mutation

Incidental Mutation 'R0631:Fgfr2'

57958

Institutional Source

Beutler Lab

Gene Symbol

Fgfr2

Ensembl Gene

ENSMUSG00000030849

Gene Name

fibroblast growth factor receptor 2

Synonyms

KGFRTr, svs, Bek, Fgfr-2, Fgfr2b, Fgfr-7, Fgfr7

MMRRC Submission

038820-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129764181-129868538 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to G at 129828969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120100 (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]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000117073

SMART Domains

Protein: ENSMUSP00000112672
Gene: ENSMUSG00000030849

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

SMART Domains

Protein: ENSMUSP00000112992
Gene: ENSMUSG00000030849

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

SMART Domains

Protein: ENSMUSP00000112580
Gene: ENSMUSG00000030849

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

SMART Domains

Protein: ENSMUSP00000113180
Gene: ENSMUSG00000030849

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

SMART Domains

Protein: ENSMUSP00000113187
Gene: ENSMUSG00000030849

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

SMART Domains

Protein: ENSMUSP00000112623
Gene: ENSMUSG00000030849

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

SMART Domains

Protein: ENSMUSP00000113994
Gene: ENSMUSG00000030849

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: ENSMUST00000127091

SMART Domains

Protein: ENSMUSP00000122856
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:I-set	3	56	1.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118296

SMART Domains

Protein: ENSMUSP00000112471
Gene: ENSMUSG00000030849

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

SMART Domains

Protein: ENSMUSP00000113010
Gene: ENSMUSG00000030849

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 benign
Transcript: ENSMUST00000120141

SMART Domains

Protein: ENSMUSP00000113415
Gene: ENSMUSG00000030849

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

probably benign
Transcript: ENSMUST00000120187

SMART Domains

Protein: ENSMUSP00000113248
Gene: ENSMUSG00000030849

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 benign
Transcript: ENSMUST00000120715

SMART Domains

Protein: ENSMUSP00000113474
Gene: ENSMUSG00000030849

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

SMART Domains

Protein: ENSMUSP00000113452
Gene: ENSMUSG00000030849

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

SMART Domains

Protein: ENSMUSP00000112585
Gene: ENSMUSG00000030849

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

SMART Domains

Protein: ENSMUSP00000112430
Gene: ENSMUSG00000030849

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

SMART Domains

Protein: ENSMUSP00000113993
Gene: ENSMUSG00000030849

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

probably benign
Transcript: ENSMUST00000153166

SMART Domains

Protein: ENSMUSP00000120100
Gene: ENSMUSG00000030849

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

Coding Region Coverage

1x: 99.4%
3x: 99.1%
10x: 98.1%
20x: 96.8%

Validation Efficiency

97% (129/133)

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: 131 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,982,479 (GRCm39)		probably benign	Het
Afap1l2	T	C	19: 56,904,517 (GRCm39)	E594G	probably benign	Het
Ak8	T	G	2: 28,625,677 (GRCm39)	I240S	probably damaging	Het
Akap13	T	C	7: 75,264,744 (GRCm39)	V174A	probably damaging	Het
Alppl2	G	A	1: 87,017,095 (GRCm39)	T66I	probably damaging	Het
Ankrd61	T	A	5: 143,831,697 (GRCm39)	I36F	probably damaging	Het
Antxrl	T	A	14: 33,780,758 (GRCm39)		probably null	Het
Arhgef2	G	C	3: 88,541,743 (GRCm39)	V244L	probably damaging	Het
Arid1a	A	G	4: 133,416,481 (GRCm39)	I1098T	unknown	Het
Atr	T	C	9: 95,756,830 (GRCm39)	V903A	possibly damaging	Het
B3gnt6	C	A	7: 97,842,899 (GRCm39)	A354S	probably benign	Het
Bnc1	A	T	7: 81,624,114 (GRCm39)	I371N	probably damaging	Het
Camsap1	A	T	2: 25,823,659 (GRCm39)	S1464T	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Cass4	T	C	2: 172,274,331 (GRCm39)	I728T	probably damaging	Het
Ccdc88a	A	T	11: 29,443,752 (GRCm39)	M1378L	probably damaging	Het
Ccdc9	C	A	7: 16,012,384 (GRCm39)	W266L	probably damaging	Het
Cct6b	C	A	11: 82,627,914 (GRCm39)		probably null	Het
Cd177	T	C	7: 24,456,111 (GRCm39)	E219G	probably benign	Het
Cdkal1	A	T	13: 29,538,667 (GRCm39)	Y497*	probably null	Het
Chmp2a	T	C	7: 12,766,371 (GRCm39)	E107G	probably damaging	Het
Chrna2	T	G	14: 66,386,757 (GRCm39)	V301G	probably benign	Het
Chrna7	A	G	7: 62,749,391 (GRCm39)	C364R	probably benign	Het
Cltc	G	T	11: 86,603,439 (GRCm39)	L796I	probably benign	Het
Col12a1	T	C	9: 79,610,658 (GRCm39)	T249A	probably damaging	Het
Col13a1	G	A	10: 61,723,129 (GRCm39)	Q270*	probably null	Het
Col6a1	C	T	10: 76,545,569 (GRCm39)	V968M	probably benign	Het
Copb1	C	A	7: 113,832,517 (GRCm39)	V511F	probably benign	Het
Daw1	C	G	1: 83,174,981 (GRCm39)	S160R	probably damaging	Het
Ddx46	A	G	13: 55,787,590 (GRCm39)		probably benign	Het
Depdc7	T	C	2: 104,552,332 (GRCm39)	K492E	possibly damaging	Het
Dmbt1	C	T	7: 130,699,383 (GRCm39)	A1004V	possibly damaging	Het
Dnah7b	G	A	1: 46,280,152 (GRCm39)	V2694I	probably benign	Het
Dnhd1	T	A	7: 105,300,831 (GRCm39)	F63I	probably benign	Het
Edc4	C	A	8: 106,617,424 (GRCm39)	A1052E	possibly damaging	Het
Eif2s2	T	A	2: 154,726,278 (GRCm39)	K129M	probably damaging	Het
Emx2	A	G	19: 59,452,460 (GRCm39)	D248G	probably damaging	Het
Erich6b	T	C	14: 75,896,449 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,394,400 (GRCm39)	K507E	probably benign	Het
Fanci	T	A	7: 79,055,953 (GRCm39)	V195E	probably damaging	Het
Frem1	A	G	4: 82,890,402 (GRCm39)	S1007P	probably damaging	Het
Fry	T	C	5: 150,419,817 (GRCm39)	I993T	possibly damaging	Het
Fst	A	G	13: 114,591,038 (GRCm39)	S244P	possibly damaging	Het
Gcc1	T	C	6: 28,421,009 (GRCm39)	T103A	probably damaging	Het
Gdf2	C	T	14: 33,663,178 (GRCm39)	P24L	probably damaging	Het
Gja3	T	C	14: 57,274,219 (GRCm39)	D51G	possibly damaging	Het
Gm10305	A	G	4: 99,161,313 (GRCm39)	D74G	unknown	Het
Gm12689	G	T	4: 99,184,258 (GRCm39)	G37V	unknown	Het
Gm5424	C	T	10: 61,907,313 (GRCm39)		noncoding transcript	Het
Hephl1	T	C	9: 14,995,820 (GRCm39)	E434G	probably benign	Het
Hoatz	T	A	9: 51,013,253 (GRCm39)	R6S	probably benign	Het
Htatip2	T	C	7: 49,423,059 (GRCm39)	C205R	possibly damaging	Het
Igf2r	T	C	17: 12,936,161 (GRCm39)		probably null	Het
Ints2	T	C	11: 86,124,022 (GRCm39)	I589V	probably benign	Het
Itgae	T	A	11: 73,005,733 (GRCm39)	V299D	probably damaging	Het
Kcnma1	T	C	14: 23,559,852 (GRCm39)		probably benign	Het
Kif11	A	G	19: 37,401,565 (GRCm39)		probably benign	Het
Kif13a	A	G	13: 46,932,364 (GRCm39)		probably benign	Het
Kif18a	T	A	2: 109,128,667 (GRCm39)		probably benign	Het
Klhl29	T	C	12: 5,144,883 (GRCm39)	T406A	probably benign	Het
Litaf	A	T	16: 10,784,276 (GRCm39)		probably benign	Het
Lmntd1	T	A	6: 145,375,726 (GRCm39)	I71F	probably benign	Het
Lrit3	A	C	3: 129,582,204 (GRCm39)	C594W	probably damaging	Het
Lrp6	T	A	6: 134,456,738 (GRCm39)	Q842L	possibly damaging	Het
Lrrcc1	T	A	3: 14,605,179 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,349,317 (GRCm39)	L1829*	probably null	Het
Mapk1ip1	T	C	7: 138,437,684 (GRCm39)	T249A	possibly damaging	Het
Mfap4	T	C	11: 61,378,006 (GRCm39)	F173L	probably damaging	Het
Mfsd9	C	A	1: 40,829,634 (GRCm39)		probably benign	Het
Mgat4b	T	C	11: 50,121,590 (GRCm39)	S69P	probably damaging	Het
Mki67	A	T	7: 135,306,117 (GRCm39)	V620D	probably damaging	Het
Moxd1	C	T	10: 24,128,852 (GRCm39)	T201I	probably damaging	Het
Msh4	G	C	3: 153,572,057 (GRCm39)	D774E	probably benign	Het
Myg1	C	T	15: 102,240,284 (GRCm39)	R37C	probably benign	Het
Myrf	C	A	19: 10,206,246 (GRCm39)	A57S	probably benign	Het
Ndst1	G	A	18: 60,833,431 (GRCm39)		probably benign	Het
Nedd4l	A	T	18: 65,341,574 (GRCm39)		probably benign	Het
Neil2	T	A	14: 63,420,849 (GRCm39)	I281F	possibly damaging	Het
Nfatc2	T	A	2: 168,432,035 (GRCm39)	D26V	probably benign	Het
Nt5c	A	G	11: 115,381,540 (GRCm39)		probably null	Het
Or13a24	T	G	7: 140,154,420 (GRCm39)	M118R	probably damaging	Het
Or2w1b	G	T	13: 21,300,078 (GRCm39)	C72F	probably damaging	Het
Or2z8	T	A	8: 72,812,166 (GRCm39)	I214N	probably damaging	Het
Or5ac20	A	G	16: 59,104,570 (GRCm39)	C97R	possibly damaging	Het
Or5t15	T	C	2: 86,681,311 (GRCm39)	T244A	probably benign	Het
Ovch2	A	G	7: 107,381,228 (GRCm39)	S557P	probably benign	Het
Pik3cg	A	G	12: 32,255,202 (GRCm39)	S262P	probably benign	Het
Pla2g6	T	A	15: 79,190,596 (GRCm39)	H322L	probably damaging	Het
Plch1	A	T	3: 63,606,640 (GRCm39)	L1079Q	probably benign	Het
Plekhg4	T	A	8: 106,105,934 (GRCm39)	V777D	probably damaging	Het
Plekhg5	A	G	4: 152,196,876 (GRCm39)	D747G	possibly damaging	Het
Poln	C	A	5: 34,276,302 (GRCm39)	V318F	possibly damaging	Het
Pou5f2	T	A	13: 78,173,873 (GRCm39)	S272T	probably benign	Het
Ppp1r3e	T	G	14: 55,114,073 (GRCm39)	S200R	possibly damaging	Het
Prl7d1	G	A	13: 27,894,165 (GRCm39)	P135S	probably benign	Het
Ptgs2	G	A	1: 149,980,288 (GRCm39)	V409I	probably benign	Het
Ptk2b	T	C	14: 66,415,200 (GRCm39)	T276A	probably damaging	Het
Ptpn3	T	C	4: 57,204,921 (GRCm39)	T747A	probably damaging	Het
Qrfpr	A	G	3: 36,276,138 (GRCm39)	I84T	probably damaging	Het
Rab44	A	G	17: 29,358,118 (GRCm39)	D102G	possibly damaging	Het
Rimoc1	A	G	15: 4,015,971 (GRCm39)		probably benign	Het
Rnf125	A	T	18: 21,112,140 (GRCm39)	D57V	possibly damaging	Het
Rnf145	T	C	11: 44,450,851 (GRCm39)	F392L	probably damaging	Het
Rttn	A	G	18: 89,007,670 (GRCm39)	N435S	probably benign	Het
Scn8a	A	G	15: 100,933,418 (GRCm39)	T1500A	probably damaging	Het
Sgsm1	A	G	5: 113,432,989 (GRCm39)		probably benign	Het
Sgsm3	A	T	15: 80,895,937 (GRCm39)	*751C	probably null	Het
Slc35c2	A	C	2: 165,122,849 (GRCm39)	L145R	probably damaging	Het
Slc4a7	A	T	14: 14,757,382 (GRCm38)	E396V	probably damaging	Het
Smarca4	G	C	9: 21,570,280 (GRCm39)		probably benign	Het
Snapc3	T	A	4: 83,336,039 (GRCm39)	V17D	probably damaging	Het
Snta1	G	T	2: 154,218,992 (GRCm39)	Q448K	probably benign	Het
Sptbn2	A	G	19: 4,790,014 (GRCm39)	D1334G	probably benign	Het
Stard5	A	G	7: 83,281,965 (GRCm39)	R41G	probably damaging	Het
Stxbp5	T	A	10: 9,660,102 (GRCm39)	N731I	probably benign	Het
Tmem135	T	A	7: 88,792,996 (GRCm39)	K413*	probably null	Het
Tmem38a	G	A	8: 73,333,862 (GRCm39)	V114I	probably benign	Het
Tpr	A	G	1: 150,298,282 (GRCm39)	T1057A	probably damaging	Het
Ttc23l	A	T	15: 10,540,066 (GRCm39)	L139Q	probably damaging	Het
Ttn	T	A	2: 76,585,640 (GRCm39)		probably null	Het
Tuba3b	A	G	6: 145,565,302 (GRCm39)	T257A	probably damaging	Het
Tubgcp6	A	C	15: 88,985,190 (GRCm39)	Y1633D	probably damaging	Het
Txnl1	C	T	18: 63,804,644 (GRCm39)		probably benign	Het
Unc13b	A	G	4: 43,182,849 (GRCm39)	Q3186R	possibly damaging	Het
Vmn2r75	T	A	7: 85,812,478 (GRCm39)	S514C	probably null	Het
Whrn	G	A	4: 63,337,726 (GRCm39)	T545I	probably damaging	Het
Zdhhc20	T	C	14: 58,095,097 (GRCm39)	H154R	probably damaging	Het
Zfp462	A	T	4: 55,007,563 (GRCm39)	M1L	possibly damaging	Het
Zfp831	A	G	2: 174,487,083 (GRCm39)	K586R	possibly damaging	Het
Zfp990	A	T	4: 145,263,872 (GRCm39)	H290L	possibly damaging	Het
Zfpm1	C	T	8: 123,063,613 (GRCm39)		probably benign	Het

Other mutations in Fgfr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Fgfr2	APN	7	129,769,441 (GRCm39)	missense	probably benign	0.45
IGL00594:Fgfr2	APN	7	129,830,453 (GRCm39)	missense	probably damaging	1.00
IGL00963:Fgfr2	APN	7	129,830,491 (GRCm39)	missense	probably damaging	0.99
IGL01968:Fgfr2	APN	7	129,786,978 (GRCm39)	missense	probably damaging	1.00
IGL02003:Fgfr2	APN	7	129,820,802 (GRCm39)	missense	probably damaging	1.00
IGL02063:Fgfr2	APN	7	129,769,485 (GRCm39)	missense	probably damaging	1.00
IGL02239:Fgfr2	APN	7	129,779,416 (GRCm39)	missense	probably damaging	1.00
IGL02349:Fgfr2	APN	7	129,844,336 (GRCm39)	missense	probably damaging	1.00
IGL02630:Fgfr2	APN	7	129,830,525 (GRCm39)	splice site	probably null
IGL02639:Fgfr2	APN	7	129,830,532 (GRCm39)	splice site	probably benign
IGL03058:Fgfr2	APN	7	129,784,422 (GRCm39)	missense	probably damaging	1.00
IGL03263:Fgfr2	APN	7	129,782,149 (GRCm39)	missense	probably benign	0.12
IGL03377:Fgfr2	APN	7	129,800,247 (GRCm39)	missense	probably damaging	0.98
R0048:Fgfr2	UTSW	7	129,782,218 (GRCm39)	splice site	probably benign
R0048:Fgfr2	UTSW	7	129,782,218 (GRCm39)	splice site	probably benign
R0078:Fgfr2	UTSW	7	129,802,805 (GRCm39)	missense	possibly damaging	0.95
R0085:Fgfr2	UTSW	7	129,797,993 (GRCm39)	missense	probably damaging	0.99
R0278:Fgfr2	UTSW	7	129,863,592 (GRCm39)	splice site	probably null
R0335:Fgfr2	UTSW	7	129,797,979 (GRCm39)	missense	probably benign	0.00
R0557:Fgfr2	UTSW	7	129,820,811 (GRCm39)	missense	probably damaging	1.00
R0637:Fgfr2	UTSW	7	129,773,354 (GRCm39)	missense	possibly damaging	0.89
R0841:Fgfr2	UTSW	7	130,373,737 (GRCm39)	unclassified	probably benign
R0841:Fgfr2	UTSW	7	129,863,635 (GRCm39)	missense	probably benign	0.03
R1646:Fgfr2	UTSW	7	129,844,374 (GRCm39)	missense	probably damaging	1.00
R1670:Fgfr2	UTSW	7	129,782,187 (GRCm39)	missense	probably damaging	1.00
R1678:Fgfr2	UTSW	7	129,830,350 (GRCm39)	splice site	probably null
R1950:Fgfr2	UTSW	7	129,800,211 (GRCm39)	missense	probably damaging	0.96
R2393:Fgfr2	UTSW	7	129,828,968 (GRCm39)	splice site	probably null
R3706:Fgfr2	UTSW	7	129,800,161 (GRCm39)	missense	probably benign	0.31
R3717:Fgfr2	UTSW	7	129,784,487 (GRCm39)	missense	probably damaging	1.00
R3808:Fgfr2	UTSW	7	129,801,578 (GRCm39)	missense	probably benign	0.01
R3945:Fgfr2	UTSW	7	129,779,485 (GRCm39)	missense	possibly damaging	0.71
R4438:Fgfr2	UTSW	7	129,774,660 (GRCm39)	nonsense	probably null
R4718:Fgfr2	UTSW	7	129,863,518 (GRCm39)	missense	probably damaging	1.00
R4779:Fgfr2	UTSW	7	129,786,923 (GRCm39)	intron	probably benign
R4925:Fgfr2	UTSW	7	129,787,002 (GRCm39)	missense	probably damaging	1.00
R4932:Fgfr2	UTSW	7	129,843,007 (GRCm39)	missense	probably damaging	1.00
R4941:Fgfr2	UTSW	7	129,800,175 (GRCm39)	missense	probably benign	0.21
R4980:Fgfr2	UTSW	7	129,802,810 (GRCm39)	missense	probably damaging	1.00
R5304:Fgfr2	UTSW	7	129,769,504 (GRCm39)	missense	probably damaging	1.00
R5313:Fgfr2	UTSW	7	129,842,970 (GRCm39)	missense	probably benign	0.01
R5375:Fgfr2	UTSW	7	129,842,945 (GRCm39)	missense	possibly damaging	0.65
R5652:Fgfr2	UTSW	7	129,863,593 (GRCm39)	missense	probably damaging	1.00
R6120:Fgfr2	UTSW	7	129,830,420 (GRCm39)	missense	probably benign	0.24
R6347:Fgfr2	UTSW	7	129,863,487 (GRCm39)	missense	probably damaging	1.00
R6375:Fgfr2	UTSW	7	129,769,475 (GRCm39)	missense	probably damaging	1.00
R6475:Fgfr2	UTSW	7	129,802,850 (GRCm39)	missense	probably benign	0.03
R6481:Fgfr2	UTSW	7	129,787,008 (GRCm39)	missense	possibly damaging	0.85
R6494:Fgfr2	UTSW	7	129,800,280 (GRCm39)	missense	probably damaging	1.00
R6542:Fgfr2	UTSW	7	129,802,853 (GRCm39)	missense	probably benign	0.02
R7246:Fgfr2	UTSW	7	129,844,136 (GRCm39)
R7937:Fgfr2	UTSW	7	129,820,823 (GRCm39)	missense	probably damaging	1.00
R7976:Fgfr2	UTSW	7	129,787,074 (GRCm39)	missense	probably damaging	0.99
R8007:Fgfr2	UTSW	7	129,765,719 (GRCm39)	nonsense	probably null
R8189:Fgfr2	UTSW	7	129,774,629 (GRCm39)	missense	probably damaging	1.00
R8430:Fgfr2	UTSW	7	129,765,708 (GRCm39)	missense	probably damaging	1.00
R8486:Fgfr2	UTSW	7	129,765,745 (GRCm39)	missense	possibly damaging	0.93
R8489:Fgfr2	UTSW	7	129,769,534 (GRCm39)	missense	probably benign	0.01
R8776:Fgfr2	UTSW	7	129,798,002 (GRCm39)	missense	possibly damaging	0.64
R8776-TAIL:Fgfr2	UTSW	7	129,798,002 (GRCm39)	missense	possibly damaging	0.64
R9338:Fgfr2	UTSW	7	129,863,561 (GRCm39)	nonsense	probably null
R9340:Fgfr2	UTSW	7	129,782,136 (GRCm39)	missense	probably damaging	1.00
R9497:Fgfr2	UTSW	7	129,765,763 (GRCm39)	missense	probably damaging	1.00
RF016:Fgfr2	UTSW	7	129,779,410 (GRCm39)	missense	probably benign	0.03
X0024:Fgfr2	UTSW	7	129,787,059 (GRCm39)	missense	probably damaging	0.99
Z1088:Fgfr2	UTSW	7	129,771,529 (GRCm39)	missense	probably damaging	1.00
Z1177:Fgfr2	UTSW	7	129,800,187 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGAAAGCCTGCTCAGCCAGTC -3'
(R):5'- TGGGGAAGGAACCGTTCATTTGTC -3'

Sequencing Primer
(F):5'- AAGCTCACGTAAGTTCGGC -3'
(R):5'- CATTAGGATTCACGctcatgcttc -3'

Posted On

2013-07-11