Mutagenetix > Incidental Mutation

Incidental Mutation 'R2149:Fbn2'

234160

Institutional Source

Beutler Lab

Gene Symbol

Fbn2

Ensembl Gene

ENSMUSG00000024598

Gene Name

fibrillin 2

Synonyms

Fib-2, sy, Sne

MMRRC Submission

040152-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R2149 (G1)

Quality Score

193

Status

Not validated

Chromosome

Chromosomal Location

58008623-58209926 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to A at 58102325 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025497]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000025497

SMART Domains

Protein: ENSMUSP00000025497
Gene: ENSMUSG00000024598

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	29	52	N/A	INTRINSIC
low complexity region	68	77	N/A	INTRINSIC
EGF	148	176	1.15e1	SMART
EGF	179	208	1.26e-2	SMART
Pfam:TB	224	262	3.7e-10	PFAM
EGF_CA	276	317	8.3e-12	SMART
EGF_CA	318	359	9.25e-10	SMART
Pfam:TB	374	416	4.3e-13	PFAM
low complexity region	435	450	N/A	INTRINSIC
low complexity region	463	475	N/A	INTRINSIC
EGF	490	527	1.13e-4	SMART
EGF_CA	528	567	2.26e-13	SMART
EGF_CA	568	609	9.03e-13	SMART
EGF_CA	610	650	6.2e-11	SMART
EGF_CA	651	691	7.75e-12	SMART
Pfam:TB	707	748	5.2e-15	PFAM
EGF_CA	761	802	6.29e-12	SMART
EGF_CA	803	844	1.97e-13	SMART
EGF_CA	845	884	1.61e-9	SMART
Pfam:TB	899	935	1.8e-9	PFAM
EGF_CA	948	989	4.7e-11	SMART
Pfam:TB	1004	1044	1.3e-16	PFAM
EGF_CA	1066	1107	3.05e-10	SMART
EGF_CA	1108	1150	2.19e-11	SMART
EGF_CA	1151	1192	2.04e-11	SMART
EGF_CA	1193	1234	3.15e-12	SMART
EGF_CA	1235	1275	1.82e-8	SMART
EGF_CA	1276	1317	9.91e-10	SMART
EGF_CA	1318	1359	1.48e-8	SMART
EGF_CA	1360	1400	6.54e-10	SMART
EGF_CA	1401	1441	4.63e-10	SMART
EGF_CA	1442	1483	7.75e-12	SMART
EGF_CA	1484	1524	5.23e-9	SMART
EGF_CA	1525	1565	2.13e-9	SMART
Pfam:TB	1585	1625	3.4e-15	PFAM
EGF_CA	1643	1684	6.74e-12	SMART
EGF_CA	1685	1726	1.06e-9	SMART
Pfam:TB	1741	1783	1.2e-17	PFAM
EGF_CA	1801	1842	7.34e-13	SMART
EGF_CA	1843	1884	4.15e-12	SMART
EGF_CA	1885	1926	5.23e-9	SMART
EGF_CA	1927	1965	5.87e-12	SMART
EGF_CA	1966	2008	1.11e-12	SMART
EGF_CA	2009	2048	1.26e-11	SMART
EGF_CA	2049	2090	7.12e-11	SMART
Pfam:TB	2105	2147	1.2e-15	PFAM
EGF_CA	2164	2205	2.89e-11	SMART
EGF_CA	2206	2245	1.1e-11	SMART
EGF_CA	2246	2286	3.76e-10	SMART
EGF_CA	2287	2330	1.44e-6	SMART
EGF_CA	2331	2372	1.16e-10	SMART
Pfam:TB	2387	2429	1.9e-16	PFAM
EGF_CA	2442	2483	8.43e-13	SMART
EGF_CA	2484	2524	4.96e-10	SMART
EGF_CA	2525	2563	7.63e-11	SMART
EGF_CA	2564	2606	6.44e-9	SMART
EGF_CA	2607	2646	2.28e-9	SMART
EGF_CA	2647	2687	1.79e-7	SMART
EGF_CA	2688	2727	3.45e-9	SMART
low complexity region	2774	2786	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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 component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500015O10Rik	A	G	1: 43,742,336	D126G	probably damaging	Het
1700006A11Rik	T	C	3: 124,409,686	E414G	probably benign	Het
3632451O06Rik	T	C	14: 49,751,571	D647G	probably benign	Het
Abca12	C	A	1: 71,263,488	V2191L	probably benign	Het
Abca13	A	G	11: 9,267,508	T317A	possibly damaging	Het
Acap3	T	G	4: 155,905,625	L750R	probably damaging	Het
Anapc7	T	A	5: 122,443,826	S511T	probably benign	Het
Anp32a	T	A	9: 62,371,802	F46Y	probably benign	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arid2	T	C	15: 96,370,835	I943T	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC003331	A	T	1: 150,388,559	N66K	probably benign	Het
Btnl6	T	C	17: 34,514,347	N218S	possibly damaging	Het
Capn11	T	C	17: 45,633,107		probably null	Het
Clcnkb	C	T	4: 141,408,017	G470D	probably damaging	Het
Clic6	T	A	16: 92,499,207	S252T	probably benign	Het
Col28a1	T	C	6: 8,155,383	K318E	possibly damaging	Het
Col5a3	A	T	9: 20,771,270	V1626D	unknown	Het
Col6a4	C	A	9: 106,076,929	A404S	probably benign	Het
Cyp2j5	G	T	4: 96,641,340	H265N	possibly damaging	Het
Dennd3	A	T	15: 73,555,060	H762L	probably benign	Het
Dock2	A	G	11: 34,229,472		probably null	Het
Emilin2	T	C	17: 71,273,992	S580G	probably benign	Het
Gfm1	T	C	3: 67,474,560	L693P	probably damaging	Het
Glb1	T	C	9: 114,450,648	Y375H	probably damaging	Het
Gpha2	A	G	19: 6,226,982	T38A	probably damaging	Het
Gtf2h3	T	C	5: 124,599,785		probably benign	Het
Hmgxb3	T	C	18: 61,157,674	T376A	probably benign	Het
Hspa12b	A	G	2: 131,143,057	D416G	probably damaging	Het
Immt	C	T	6: 71,844,675	R28*	probably null	Het
Iqgap1	T	C	7: 80,762,560	Y180C	probably damaging	Het
Kcnq3	T	A	15: 66,023,729	D322V	probably damaging	Het
Kifc2	C	A	15: 76,662,221	L268I	probably benign	Het
Lama1	T	C	17: 67,773,865	M1296T	possibly damaging	Het
Lipk	A	G	19: 34,021,617	N104S	possibly damaging	Het
Lrrc14b	T	A	13: 74,363,757	N68I	possibly damaging	Het
Lrrc28	A	T	7: 67,531,682	D268E	probably damaging	Het
Ly6c2	T	C	15: 75,108,543	*132W	probably null	Het
Msh6	A	G	17: 87,986,088	E757G	probably damaging	Het
Mtss1l	T	C	8: 110,726,383	V47A	possibly damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185		probably null	Het
Nalcn	A	T	14: 123,370,017	I680N	probably benign	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1501	A	C	19: 13,838,582	V197G	probably damaging	Het
Olfr61	C	T	7: 140,638,052	T117M	probably damaging	Het
Olfr713	A	T	7: 107,036,338	Y61F	possibly damaging	Het
Olfr912	T	C	9: 38,581,508	V77A	probably benign	Het
Oosp2	A	T	19: 11,649,614	L17*	probably null	Het
Parvb	A	G	15: 84,232,168	K33E	possibly damaging	Het
Pde4dip	T	A	3: 97,792,836	Q300L	possibly damaging	Het
Phf2	T	C	13: 48,804,689	K950E	unknown	Het
Pira2	G	A	7: 3,844,171	P124L	probably damaging	Het
Plpp4	C	T	7: 129,379,371	T157I	probably benign	Het
Polrmt	G	A	10: 79,740,275	Q545*	probably null	Het
Ptprs	A	G	17: 56,417,706	F1511L	probably damaging	Het
Sbno1	T	C	5: 124,402,119		probably null	Het
Setd1a	T	A	7: 127,786,518	V256D	possibly damaging	Het
Slamf1	T	C	1: 171,767,272	S16P	probably damaging	Het
Slc16a14	T	C	1: 84,907,399	D473G	probably damaging	Het
Slc8a2	A	T	7: 16,159,164	H917L	probably damaging	Het
Sorbs2	A	C	8: 45,795,443	D442A	probably damaging	Het
Srp68	G	T	11: 116,260,867	T301K	possibly damaging	Het
Stab2	A	T	10: 86,865,040	C457*	probably null	Het
Stk31	T	G	6: 49,439,218	S652R	possibly damaging	Het
Stra6	T	G	9: 58,152,539	S594R	probably benign	Het
Tbc1d9	G	A	8: 83,271,449	E1212K	probably damaging	Het
Thada	C	T	17: 84,441,764	R593Q	probably damaging	Het
Tmem131	C	A	1: 36,812,609	V938L	probably benign	Het
Tmem132c	T	A	5: 127,462,962	W351R	probably damaging	Het
Tmem206	T	G	1: 191,345,109	F210V	probably benign	Het
Trim10	C	T	17: 36,877,014	A374V	probably benign	Het
Try10	T	C	6: 41,356,561	V80A	probably benign	Het
Ttn	T	C	2: 76,729,363	T29565A	possibly damaging	Het
Uggt2	G	T	14: 119,075,345	Q351K	probably benign	Het
Vmn1r120	A	T	7: 21,052,964	V274D	probably damaging	Het
Vmn1r62	A	T	7: 5,675,359	H13L	probably benign	Het
Vmn2r101	C	T	17: 19,588,963	T118I	probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vps51	A	G	19: 6,068,134	V777A	probably benign	Het
Wnt5a	A	G	14: 28,513,317	Y86C	probably damaging	Het
Xpa	T	C	4: 46,183,189	E200G	probably damaging	Het
Zc3h12a	C	T	4: 125,126,642	R136K	possibly damaging	Het
Zc3hav1	T	C	6: 38,336,537	H191R	probably damaging	Het
Zfp804a	A	G	2: 82,258,664	T946A	probably benign	Het

Other mutations in Fbn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Fbn2	APN	18	58037809	missense	possibly damaging	0.81
IGL00780:Fbn2	APN	18	58095988	missense	probably damaging	1.00
IGL00923:Fbn2	APN	18	58012325	missense	probably benign	0.00
IGL01011:Fbn2	APN	18	58095240	splice site	probably benign
IGL01123:Fbn2	APN	18	58104081	missense	possibly damaging	0.62
IGL01304:Fbn2	APN	18	58061745	missense	probably damaging	0.97
IGL01339:Fbn2	APN	18	58113370	missense	possibly damaging	0.75
IGL01465:Fbn2	APN	18	58203833	missense	probably null	0.67
IGL01608:Fbn2	APN	18	58053704	nonsense	probably null
IGL01682:Fbn2	APN	18	58072671	missense	probably damaging	1.00
IGL01752:Fbn2	APN	18	58075977	splice site	probably null
IGL01764:Fbn2	APN	18	58045351	missense	probably damaging	1.00
IGL02002:Fbn2	APN	18	58114553	missense	probably benign	0.01
IGL02010:Fbn2	APN	18	58037722	missense	probably damaging	0.99
IGL02029:Fbn2	APN	18	58209603	missense	probably benign	0.04
IGL02037:Fbn2	APN	18	58096015	missense	probably damaging	1.00
IGL02350:Fbn2	APN	18	58103995	missense	possibly damaging	0.71
IGL02357:Fbn2	APN	18	58103995	missense	possibly damaging	0.71
IGL02653:Fbn2	APN	18	58076705	missense	probably benign
IGL03233:Fbn2	APN	18	58102377	missense	probably benign	0.39
IGL03347:Fbn2	APN	18	58013665	missense	probably damaging	1.00
IGL03410:Fbn2	APN	18	58050243	missense	possibly damaging	0.95
pinch	UTSW	18	58069184	missense	probably damaging	1.00
stick	UTSW	18	58071819	missense	possibly damaging	0.94
tweak	UTSW	18	58058389	missense	probably damaging	1.00
BB009:Fbn2	UTSW	18	58020483	missense	possibly damaging	0.61
BB019:Fbn2	UTSW	18	58020483	missense	possibly damaging	0.61
PIT4434001:Fbn2	UTSW	18	58096062	missense	probably damaging	0.99
R0020:Fbn2	UTSW	18	58105164	missense	probably damaging	1.00
R0069:Fbn2	UTSW	18	58069184	missense	probably damaging	1.00
R0107:Fbn2	UTSW	18	58056203	missense	probably benign	0.00
R0116:Fbn2	UTSW	18	58102373	nonsense	probably null
R0277:Fbn2	UTSW	18	58045317	missense	probably damaging	1.00
R0284:Fbn2	UTSW	18	58050290	splice site	probably benign
R0316:Fbn2	UTSW	18	58113325	missense	probably damaging	1.00
R0323:Fbn2	UTSW	18	58045317	missense	probably damaging	1.00
R0421:Fbn2	UTSW	18	58027804	splice site	probably benign
R0455:Fbn2	UTSW	18	58035336	missense	probably damaging	1.00
R0504:Fbn2	UTSW	18	58039460	missense	possibly damaging	0.94
R0520:Fbn2	UTSW	18	58013749	missense	probably damaging	1.00
R0632:Fbn2	UTSW	18	58037747	missense	probably damaging	1.00
R0638:Fbn2	UTSW	18	58045374	missense	probably damaging	0.98
R0645:Fbn2	UTSW	18	58058389	missense	probably damaging	1.00
R1051:Fbn2	UTSW	18	58012353	missense	probably damaging	0.99
R1209:Fbn2	UTSW	18	58070016	missense	probably benign	0.00
R1319:Fbn2	UTSW	18	58200610	missense	possibly damaging	0.88
R1400:Fbn2	UTSW	18	58080193	missense	possibly damaging	0.90
R1437:Fbn2	UTSW	18	58053659	missense	possibly damaging	0.68
R1463:Fbn2	UTSW	18	58010380	missense	probably benign
R1612:Fbn2	UTSW	18	58061752	missense	probably damaging	1.00
R1623:Fbn2	UTSW	18	58048548	missense	possibly damaging	0.61
R1629:Fbn2	UTSW	18	58026538	missense	probably damaging	1.00
R1639:Fbn2	UTSW	18	58058462	missense	probably benign	0.41
R1722:Fbn2	UTSW	18	58048052	critical splice acceptor site	probably null
R1749:Fbn2	UTSW	18	58050276	missense	probably benign	0.35
R1802:Fbn2	UTSW	18	58052976	nonsense	probably null
R1850:Fbn2	UTSW	18	58039305	splice site	probably benign
R1913:Fbn2	UTSW	18	58061742	missense	probably damaging	1.00
R2045:Fbn2	UTSW	18	58090658	missense	probably damaging	1.00
R2064:Fbn2	UTSW	18	58048849	missense	probably damaging	0.99
R2143:Fbn2	UTSW	18	58052993	missense	possibly damaging	0.65
R2144:Fbn2	UTSW	18	58052993	missense	possibly damaging	0.65
R2207:Fbn2	UTSW	18	58081399	nonsense	probably null
R2219:Fbn2	UTSW	18	58052963	missense	possibly damaging	0.79
R2263:Fbn2	UTSW	18	58095176	splice site	probably benign
R2375:Fbn2	UTSW	18	58035966	missense	probably damaging	1.00
R2424:Fbn2	UTSW	18	58203787	missense	probably damaging	0.99
R2504:Fbn2	UTSW	18	58093359	missense	probably damaging	0.99
R2879:Fbn2	UTSW	18	58069242	missense	probably damaging	0.97
R3040:Fbn2	UTSW	18	58093387	missense	probably damaging	1.00
R3080:Fbn2	UTSW	18	58149050	missense	probably damaging	0.97
R3625:Fbn2	UTSW	18	58061742	missense	probably damaging	1.00
R3901:Fbn2	UTSW	18	58066011	missense	probably damaging	0.97
R4089:Fbn2	UTSW	18	58053769	missense	probably benign	0.01
R4133:Fbn2	UTSW	18	58095962	missense	possibly damaging	0.82
R4155:Fbn2	UTSW	18	58023287	nonsense	probably null
R4288:Fbn2	UTSW	18	58035339	missense	probably damaging	0.98
R4289:Fbn2	UTSW	18	58035339	missense	probably damaging	0.98
R4363:Fbn2	UTSW	18	58149050	missense	probably damaging	0.97
R4559:Fbn2	UTSW	18	58076074	missense	probably benign	0.00
R4601:Fbn2	UTSW	18	58053733	missense	probably damaging	1.00
R4609:Fbn2	UTSW	18	58190269	nonsense	probably null
R4626:Fbn2	UTSW	18	58013747	nonsense	probably null
R4638:Fbn2	UTSW	18	58010304	missense	probably benign	0.01
R4675:Fbn2	UTSW	18	58040193	missense	possibly damaging	0.95
R4707:Fbn2	UTSW	18	58056272	missense	probably damaging	1.00
R4758:Fbn2	UTSW	18	58026386	missense	probably benign	0.00
R4945:Fbn2	UTSW	18	58050253	missense	possibly damaging	0.53
R4955:Fbn2	UTSW	18	58058383	missense	possibly damaging	0.61
R4980:Fbn2	UTSW	18	58010631	missense	probably benign	0.05
R4998:Fbn2	UTSW	18	58072631	missense	probably damaging	1.00
R5133:Fbn2	UTSW	18	58039340	missense	probably damaging	0.99
R5322:Fbn2	UTSW	18	58039315	missense	probably benign	0.00
R5414:Fbn2	UTSW	18	58093405	missense	probably damaging	0.96
R5538:Fbn2	UTSW	18	58071901	missense	probably benign	0.22
R5557:Fbn2	UTSW	18	58115659	missense	probably benign	0.00
R5754:Fbn2	UTSW	18	58124311	missense	probably benign	0.04
R5769:Fbn2	UTSW	18	58105199	missense	probably damaging	1.00
R5790:Fbn2	UTSW	18	58076696	missense	probably benign	0.34
R5830:Fbn2	UTSW	18	58114469	missense	probably benign	0.01
R5845:Fbn2	UTSW	18	58053768	missense	possibly damaging	0.89
R5880:Fbn2	UTSW	18	58023282	nonsense	probably null
R5907:Fbn2	UTSW	18	58045337	missense	probably damaging	1.00
R5948:Fbn2	UTSW	18	58037049	missense	probably damaging	1.00
R5955:Fbn2	UTSW	18	58044256	missense	probably damaging	1.00
R5974:Fbn2	UTSW	18	58048920	missense	probably damaging	1.00
R6010:Fbn2	UTSW	18	58069524	missense	probably benign	0.31
R6024:Fbn2	UTSW	18	58076836	missense	probably benign	0.03
R6037:Fbn2	UTSW	18	58044223	missense	probably benign	0.05
R6037:Fbn2	UTSW	18	58044223	missense	probably benign	0.05
R6315:Fbn2	UTSW	18	58054953	critical splice acceptor site	probably null
R6437:Fbn2	UTSW	18	58113363	missense	probably damaging	1.00
R6519:Fbn2	UTSW	18	58063575	missense	possibly damaging	0.61
R6520:Fbn2	UTSW	18	58102390	missense	probably damaging	1.00
R6734:Fbn2	UTSW	18	58035960	missense	probably damaging	1.00
R6755:Fbn2	UTSW	18	58113333	missense	possibly damaging	0.89
R6789:Fbn2	UTSW	18	58010614	missense	probably benign	0.00
R6801:Fbn2	UTSW	18	58113348	missense	probably benign	0.04
R6862:Fbn2	UTSW	18	58124321	missense	probably benign	0.04
R6900:Fbn2	UTSW	18	58076831	missense	probably benign
R6906:Fbn2	UTSW	18	58071819	missense	possibly damaging	0.94
R6919:Fbn2	UTSW	18	58124187	splice site	probably null
R6950:Fbn2	UTSW	18	58035921	missense	probably null	0.21
R6985:Fbn2	UTSW	18	58068388	missense	probably damaging	1.00
R7056:Fbn2	UTSW	18	58076726	missense	probably benign
R7199:Fbn2	UTSW	18	58053761	nonsense	probably null
R7219:Fbn2	UTSW	18	58053027	missense	probably benign	0.04
R7226:Fbn2	UTSW	18	58037070	missense	probably damaging	1.00
R7260:Fbn2	UTSW	18	58066116	missense	probably benign	0.14
R7414:Fbn2	UTSW	18	58096050	missense	probably damaging	1.00
R7485:Fbn2	UTSW	18	58071840	missense	possibly damaging	0.50
R7523:Fbn2	UTSW	18	58066080	missense	probably benign	0.01
R7549:Fbn2	UTSW	18	58020464	nonsense	probably null
R7619:Fbn2	UTSW	18	58080227	missense	possibly damaging	0.46
R7638:Fbn2	UTSW	18	58105136	missense	probably damaging	1.00
R7789:Fbn2	UTSW	18	58039313	missense	probably benign	0.22
R7932:Fbn2	UTSW	18	58020483	missense	possibly damaging	0.61
R8013:Fbn2	UTSW	18	58104081	missense	possibly damaging	0.62
R8076:Fbn2	UTSW	18	58026424	nonsense	probably null
R8300:Fbn2	UTSW	18	58209615	missense	probably benign
R8345:Fbn2	UTSW	18	58058431	missense	probably damaging	1.00
R8487:Fbn2	UTSW	18	58020390	missense	possibly damaging	0.53
R8520:Fbn2	UTSW	18	58038198	critical splice donor site	probably null
R8781:Fbn2	UTSW	18	58061647	missense	possibly damaging	0.88
R8801:Fbn2	UTSW	18	58153949	missense	probably damaging	1.00
R8857:Fbn2	UTSW	18	58153861	missense	probably damaging	1.00
R8878:Fbn2	UTSW	18	58124246	missense	probably benign	0.30
R8909:Fbn2	UTSW	18	58059436	missense	possibly damaging	0.88
R8973:Fbn2	UTSW	18	58153856	missense	probably damaging	1.00
R8975:Fbn2	UTSW	18	58153856	missense	probably damaging	1.00
R8979:Fbn2	UTSW	18	58153856	missense	probably damaging	1.00
R8991:Fbn2	UTSW	18	58106323	missense	probably damaging	1.00
R9003:Fbn2	UTSW	18	58043519	missense	probably damaging	1.00
R9205:Fbn2	UTSW	18	58059356	missense	probably damaging	1.00
R9215:Fbn2	UTSW	18	58076675	missense	probably damaging	1.00
R9263:Fbn2	UTSW	18	58124272	missense	probably damaging	1.00
R9307:Fbn2	UTSW	18	58209784	missense	probably benign
R9337:Fbn2	UTSW	18	58209651	missense	probably benign
R9403:Fbn2	UTSW	18	58066107	missense	probably damaging	1.00
R9501:Fbn2	UTSW	18	58076058	missense	probably damaging	1.00
R9503:Fbn2	UTSW	18	58038241	missense	probably damaging	1.00
R9509:Fbn2	UTSW	18	58114478	missense	probably benign	0.22
R9561:Fbn2	UTSW	18	58048539	nonsense	probably null
R9565:Fbn2	UTSW	18	58095226	missense	probably benign	0.20
R9652:Fbn2	UTSW	18	58013650	critical splice donor site	probably null
R9659:Fbn2	UTSW	18	58209582	missense	probably damaging	0.98
R9679:Fbn2	UTSW	18	58068361	missense	probably damaging	1.00
R9683:Fbn2	UTSW	18	58053027	missense	probably benign	0.04
R9773:Fbn2	UTSW	18	58010409	missense	probably benign
X0062:Fbn2	UTSW	18	58056213	missense	probably damaging	1.00
Z1177:Fbn2	UTSW	18	58010379	missense	probably benign	0.00
Z1177:Fbn2	UTSW	18	58055482	missense	probably benign	0.00
Z1177:Fbn2	UTSW	18	58069190	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAATCATATTAAATGCATGCAGC -3'
(R):5'- ATAGGCTAGGGCAGTTCAGC -3'

Sequencing Primer
(F):5'- TAAATGCATGCAGCTTGGCC -3'
(R):5'- CTGCATCAACAACGAAGG -3'

Posted On

2014-10-01