Mutagenetix > Incidental Mutation

Incidental Mutation 'R2064:Fbn2'

229028

Institutional Source

Beutler Lab

Gene Symbol

Fbn2

Ensembl Gene

ENSMUSG00000024598

Gene Name

fibrillin 2

Synonyms

Fib-2, sy, Sne

MMRRC Submission

040069-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R2064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58008623-58209926 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58048849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1827 (E1827K)

Ref Sequence

ENSEMBL: ENSMUSP00000025497 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025497
AA Change: E1827K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025497
Gene: ENSMUSG00000024598
AA Change: E1827K

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

Meta Mutation Damage Score

0.2819

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

99% (114/115)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,186,165	S402T	probably damaging	Het
4933436I01Rik	T	A	X: 67,920,702	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,689,322		probably benign	Het
Actr1b	A	G	1: 36,702,087	F138L	possibly damaging	Het
Adamts14	G	T	10: 61,205,522	P803Q	probably benign	Het
Afap1l1	A	T	18: 61,739,122		probably null	Het
Akt3	A	G	1: 177,102,985	S136P	possibly damaging	Het
Aldh16a1	C	T	7: 45,147,161		probably null	Het
Alg12	A	G	15: 88,812,115	W238R	probably damaging	Het
Amy2a1	T	C	3: 113,530,568	I108V	probably benign	Het
Arhgap23	T	A	11: 97,493,062	C1144S	probably benign	Het
Arhgef40	G	A	14: 51,996,183	V829M	probably damaging	Het
Atg7	C	A	6: 114,703,363	N344K	probably damaging	Het
Aunip	T	A	4: 134,523,307	S188T	probably benign	Het
Bmpr1b	A	T	3: 141,870,807	H88Q	probably benign	Het
Brpf3	G	A	17: 28,821,364	G920S	probably benign	Het
Cdc123	C	T	2: 5,795,543		probably benign	Het
Cdhr1	T	C	14: 37,095,105	R100G	probably benign	Het
Cdkn2d	A	G	9: 21,290,879	V24A	probably damaging	Het
Cirbp	T	C	10: 80,170,332		probably benign	Het
Clptm1l	C	T	13: 73,607,723	Q153*	probably null	Het
Col12a1	A	G	9: 79,662,454		probably benign	Het
Cpox	T	A	16: 58,674,409	C270S	probably benign	Het
Cspg4	A	G	9: 56,896,656	D1677G	probably damaging	Het
Cyp4a10	T	A	4: 115,524,720		probably benign	Het
Dctn4	T	C	18: 60,538,277	F74L	possibly damaging	Het
Dennd5a	G	A	7: 109,898,693		probably benign	Het
Dnaaf3	T	C	7: 4,523,799	I426M	possibly damaging	Het
Dnah9	C	T	11: 66,145,435	S185N	probably benign	Het
Dqx1	T	G	6: 83,058,543		probably benign	Het
Dtx2	C	T	5: 136,030,577	S493F	probably damaging	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Endov	T	C	11: 119,499,582	F12S	probably damaging	Het
Ep400	A	C	5: 110,735,404		probably benign	Het
Epha1	G	T	6: 42,366,053	H187Q	probably benign	Het
Exoc2	T	C	13: 30,935,561	D119G	probably benign	Het
Fbxo41	C	T	6: 85,478,471	W577*	probably null	Het
Fgd6	G	A	10: 94,045,041	A586T	probably damaging	Het
Gm12695	T	C	4: 96,769,726	T69A	probably benign	Het
Gm12888	A	T	4: 121,324,872	W8R	unknown	Het
Gm2959	A	G	14: 42,413,701		noncoding transcript	Het
Gm6214	A	G	3: 140,839,217		noncoding transcript	Het
Gm9912	T	C	3: 149,185,159	T113A	unknown	Het
Gmeb2	A	G	2: 181,253,970	L469P	probably benign	Het
Gosr1	T	C	11: 76,737,398	I177V	probably benign	Het
Gria1	T	C	11: 57,317,708	F810L	probably damaging	Het
Gtf2ird2	C	T	5: 134,216,498	Q533*	probably null	Het
Hadhb	T	A	5: 30,173,798		probably null	Het
Hat1	A	T	2: 71,410,160	Y66F	possibly damaging	Het
Hk1	T	C	10: 62,286,536	Y488C	probably benign	Het
Htt	C	T	5: 34,825,982	T975I	probably benign	Het
Ifnb1	T	A	4: 88,522,759	I6F	possibly damaging	Het
Il19	T	C	1: 130,939,117	H42R	probably benign	Het
Il2rg	A	G	X: 101,267,810	L57P	possibly damaging	Het
Impg2	G	A	16: 56,243,630		probably null	Het
Invs	T	A	4: 48,396,287	L320Q	probably damaging	Het
Itga9	T	C	9: 118,807,293	F683S	probably damaging	Het
Itih2	A	G	2: 10,130,574	S2P	possibly damaging	Het
Itpr3	G	A	17: 27,098,076	M768I	probably benign	Het
Kcnab1	A	G	3: 65,364,639	E315G	probably benign	Het
Kcnmb2	A	C	3: 32,198,288	I213L	probably damaging	Het
Khdc1a	T	A	1: 21,350,972	M127K	probably benign	Het
Klhl28	T	C	12: 64,943,472	N565S	probably benign	Het
Lcp1	A	G	14: 75,198,075		probably null	Het
Mcm4	T	C	16: 15,634,469	T267A	possibly damaging	Het
Mlxipl	A	T	5: 135,132,777	T517S	possibly damaging	Het
Mpp3	T	A	11: 102,000,690	I541L	probably benign	Het
Mpp4	G	A	1: 59,143,782	P322L	possibly damaging	Het
Myh15	G	A	16: 49,155,621	A1351T	possibly damaging	Het
Nacc1	A	T	8: 84,673,118	M490K	probably benign	Het
Nbeal1	C	A	1: 60,270,356	Q496K	possibly damaging	Het
Oas1g	T	C	5: 120,885,883	E121G	probably damaging	Het
Olfr125	T	A	17: 37,835,002	M1K	probably null	Het
Pard3	T	C	8: 127,610,611	L1236P	probably damaging	Het
Phc2	T	C	4: 128,747,136	F672S	probably damaging	Het
Phf21a	C	A	2: 92,327,077	N183K	possibly damaging	Het
Plxnb3	T	A	X: 73,771,751	Y1845*	probably null	Het
Prl3c1	G	A	13: 27,196,737		probably null	Het
Prl7a2	T	A	13: 27,660,887	Y172F	probably damaging	Het
Psg16	T	G	7: 17,093,748	S210A	possibly damaging	Het
Psg25	T	A	7: 18,521,253	K446M	probably damaging	Het
Ptprz1	A	G	6: 23,050,389		probably benign	Het
Rgs7	A	T	1: 175,121,942	F160L	probably damaging	Het
Rpl22l1	A	T	3: 28,806,808	E57D	possibly damaging	Het
Rpl35	A	G	2: 39,004,741	L44P	possibly damaging	Het
Rtn4r	T	C	16: 18,151,257	L183P	probably damaging	Het
Skint1	T	A	4: 112,025,533	V258D	probably benign	Het
Slc4a7	G	A	14: 14,733,773	R67H	probably damaging	Het
Smg1	C	T	7: 118,156,867		probably benign	Het
Smurf2	T	C	11: 106,871,548	T39A	probably damaging	Het
Sspo	A	T	6: 48,473,662	D2595V	probably damaging	Het
Tatdn2	A	G	6: 113,704,142	K379E	probably benign	Het
Tbc1d14	G	A	5: 36,522,930	R68*	probably null	Het
Tgm1	A	G	14: 55,709,471	I360T	probably damaging	Het
Thrap3	T	C	4: 126,175,396	Y654C	possibly damaging	Het
Traf1	A	T	2: 34,948,190	I212N	probably benign	Het
Ttc17	C	A	2: 94,366,547	W485L	probably damaging	Het
Ttn	C	A	2: 76,938,331	V2920F	probably damaging	Het
Tyr	T	C	7: 87,492,843	I93V	probably benign	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Vmn1r212	A	G	13: 22,884,115	V16A	probably benign	Het
Vmn1r55	A	G	7: 5,147,049	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,524,553	H412L	possibly damaging	Het
Xirp1	T	C	9: 120,016,896	I974V	probably benign	Het
Zap70	A	G	1: 36,779,134	T301A	probably benign	Het
Zfhx4	A	G	3: 5,398,927	K1382E	probably damaging	Het
Zfp280b	T	A	10: 76,039,183	C299S	probably damaging	Het
Zfp352	C	T	4: 90,225,120	S499L	probably benign	Het
Zfp423	G	A	8: 87,781,358	A661V	probably benign	Het
Zfp57	T	A	17: 37,009,676	F141I	possibly damaging	Het
Zfp946	A	T	17: 22,455,465	H400L	probably damaging	Het
Zgrf1	T	C	3: 127,613,350	C1589R	probably damaging	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
R2143:Fbn2	UTSW	18	58052993	missense	possibly damaging	0.65
R2144:Fbn2	UTSW	18	58052993	missense	possibly damaging	0.65
R2149:Fbn2	UTSW	18	58102325	splice site	probably null
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'- GATTGTCGCCGTTGCTACAC -3'
(R):5'- GAGTGCATATTTTCACTTCAGGCTAC -3'

Sequencing Primer
(F):5'- CTCATCGATGTCTGCAAGAGTGAC -3'
(R):5'- TACACATAGCATCATCCTTACGGGG -3'

Posted On

2014-09-17