Mutagenetix > Incidental Mutation

Incidental Mutation 'R4758:Fbn2'

358370

Institutional Source

Beutler Lab

Gene Symbol

Fbn2

Ensembl Gene

ENSMUSG00000024598

Gene Name

fibrillin 2

Synonyms

Fib-2, sy, Sne

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R4758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58008623-58209926 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58026386 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 2424 (A2424T)

Ref Sequence

ENSEMBL: ENSMUSP00000025497 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025497
AA Change: A2424T

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

SMART Domains

Protein: ENSMUSP00000025497
Gene: ENSMUSG00000024598
AA Change: A2424T

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: 97.1%
20x: 94.8%

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
Acad9	T	A	3: 36,073,605 (GRCm38)	Y119N	probably damaging	Het
Actn2	T	A	13: 12,288,586 (GRCm38)	K443*	probably null	Het
Adgrb2	A	G	4: 130,009,350 (GRCm38)	N581S	probably damaging	Het
Alb	A	T	5: 90,468,593 (GRCm38)	H319L	probably benign	Het
Aox2	A	G	1: 58,332,582 (GRCm38)	I802V	probably benign	Het
Arhgap45	G	A	10: 80,030,293 (GRCm38)	G995E	probably benign	Het
BC005561	A	C	5: 104,520,399 (GRCm38)	E929A	possibly damaging	Het
Capn12	A	C	7: 28,892,723 (GRCm38)	T689P	possibly damaging	Het
Cars	T	C	7: 143,571,567 (GRCm38)	S312G	probably benign	Het
Cast	T	A	13: 74,739,880 (GRCm38)	D216V	possibly damaging	Het
Ccdc13	C	T	9: 121,833,734 (GRCm38)	E72K	possibly damaging	Het
Cd300lg	G	T	11: 102,053,591 (GRCm38)		probably null	Het
Cep41	A	G	6: 30,671,369 (GRCm38)		probably benign	Het
Chrna3	A	G	9: 55,022,276 (GRCm38)	Y93H	probably damaging	Het
Cic	A	G	7: 25,292,211 (GRCm38)	R1309G	possibly damaging	Het
Clcnkb	A	G	4: 141,407,849 (GRCm38)	V526A	probably benign	Het
Clec4a1	G	T	6: 122,933,866 (GRCm38)	V227F	probably damaging	Het
Cpa5	C	A	6: 30,615,160 (GRCm38)	H99N	possibly damaging	Het
Crem	C	A	18: 3,327,527 (GRCm38)	C4F	probably damaging	Het
Cybb	C	G	X: 9,450,750 (GRCm38)	D246H	probably benign	Het
Decr2	C	A	17: 26,088,940 (GRCm38)	E46D	probably damaging	Het
Dlg1	G	A	16: 31,791,752 (GRCm38)	V284I	possibly damaging	Het
Dnah3	T	C	7: 120,079,406 (GRCm38)	E360G	probably benign	Het
Dnajc1	A	T	2: 18,308,946 (GRCm38)	Y121*	probably null	Het
Dnajc13	A	G	9: 104,172,574 (GRCm38)	F1783L	probably damaging	Het
Eps8l2	T	A	7: 141,360,373 (GRCm38)	D505E	probably damaging	Het
Eral1	G	A	11: 78,075,599 (GRCm38)	T251I	probably benign	Het
Eya3	T	C	4: 132,694,885 (GRCm38)		probably null	Het
Fam120a	G	A	13: 48,880,857 (GRCm38)	T1093I	probably benign	Het
Git2	G	A	5: 114,730,351 (GRCm38)	T256M	probably damaging	Het
Gm884	A	G	11: 103,614,464 (GRCm38)	V2226A	possibly damaging	Het
Gm9805	A	T	17: 22,689,871 (GRCm38)	Y34F	probably benign	Het
Itgb7	T	G	15: 102,216,207 (GRCm38)	T792P	probably benign	Het
Jakmip1	T	A	5: 37,128,622 (GRCm38)	I665N	probably damaging	Het
Kcnt2	T	C	1: 140,518,897 (GRCm38)	Y677H	probably damaging	Het
Klhdc4	G	A	8: 121,798,044 (GRCm38)	P382S	probably benign	Het
Knl1	TCC	TC	2: 119,071,732 (GRCm38)		probably null	Het
Lamb3	T	A	1: 193,339,961 (GRCm38)	M1039K	possibly damaging	Het
Lipm	A	T	19: 34,101,170 (GRCm38)	M1L	possibly damaging	Het
Magi3	T	A	3: 104,015,321 (GRCm38)	D1360V	probably benign	Het
Mier2	C	A	10: 79,550,348 (GRCm38)	C23F	probably damaging	Het
Myo1h	C	T	5: 114,349,582 (GRCm38)	R616C	probably damaging	Het
Nars2	A	G	7: 96,973,528 (GRCm38)	D187G	probably damaging	Het
Nbea	T	C	3: 56,005,403 (GRCm38)	M988V	probably benign	Het
Nlrc5	C	A	8: 94,512,328 (GRCm38)	Q1465K	possibly damaging	Het
Nlrp4e	T	C	7: 23,320,618 (GRCm38)	F177L	probably benign	Het
Oas1a	A	G	5: 120,907,338 (GRCm38)	F47L	probably damaging	Het
Oas1f	A	G	5: 120,847,480 (GRCm38)	E30G	probably damaging	Het
Obscn	A	T	11: 59,003,363 (GRCm38)	M6689K	unknown	Het
Obscn	A	T	11: 59,135,917 (GRCm38)	D153E	probably damaging	Het
Olfr605	A	C	7: 103,442,869 (GRCm38)	C85G	probably damaging	Het
Osmr	A	T	15: 6,852,555 (GRCm38)	I36K	probably benign	Het
Pcf11	A	T	7: 92,661,175 (GRCm38)	F535Y	probably damaging	Het
Pde2a	C	T	7: 101,511,499 (GRCm38)	R886C	probably damaging	Het
Pik3ca	T	A	3: 32,437,978 (GRCm38)	C242S	probably benign	Het
Pikfyve	T	A	1: 65,272,515 (GRCm38)	D1925E	possibly damaging	Het
Plekhm2	A	T	4: 141,642,005 (GRCm38)	Y123N	possibly damaging	Het
Pomt2	A	T	12: 87,122,878 (GRCm38)	V406D	probably damaging	Het
Ppfia2	G	C	10: 106,762,117 (GRCm38)	L180F	probably damaging	Het
Prdm10	A	T	9: 31,362,412 (GRCm38)	T985S	probably benign	Het
Proc	T	A	18: 32,123,810 (GRCm38)	Y268F	probably damaging	Het
Prrc1	C	T	18: 57,384,248 (GRCm38)	T365M	probably damaging	Het
Rasa1	A	T	13: 85,234,448 (GRCm38)	D446E	probably benign	Het
Ribc2	T	A	15: 85,141,666 (GRCm38)	L281Q	probably damaging	Het
Runx1t1	A	G	4: 13,865,907 (GRCm38)	D385G	probably damaging	Het
Sdk2	A	G	11: 113,827,054 (GRCm38)	S1495P	possibly damaging	Het
Slc15a3	G	T	19: 10,854,362 (GRCm38)		probably null	Het
Slc43a3	A	G	2: 84,944,525 (GRCm38)	N149S	probably damaging	Het
Spata5	T	A	3: 37,433,236 (GRCm38)	S416T	probably benign	Het
Specc1l	A	G	10: 75,246,348 (GRCm38)	Q543R	probably damaging	Het
Spef1	T	C	2: 131,172,741 (GRCm38)		probably null	Het
Spns1	A	T	7: 126,370,794 (GRCm38)	F478Y	probably damaging	Het
Srebf2	T	C	15: 82,196,169 (GRCm38)	V821A	probably benign	Het
Stac3	A	G	10: 127,503,345 (GRCm38)	M108V	possibly damaging	Het
Stradb	A	G	1: 58,988,571 (GRCm38)	T87A	probably benign	Het
Stxbp5l	A	T	16: 37,134,230 (GRCm38)	M906K	probably benign	Het
Tex14	T	C	11: 87,514,485 (GRCm38)	V741A	probably benign	Het
Tpo	C	A	12: 30,075,871 (GRCm38)	G830C	probably damaging	Het
Unc79	T	A	12: 103,161,821 (GRCm38)	C2308*	probably null	Het
Vmn1r205	T	C	13: 22,592,846 (GRCm38)	T29A	possibly damaging	Het
Vmn1r69	G	A	7: 10,580,546 (GRCm38)	T7I	probably benign	Het
Vmn2r27	T	G	6: 124,231,637 (GRCm38)	T50P	possibly damaging	Het
Wdr83	A	G	8: 85,075,238 (GRCm38)	Y302H	probably benign	Het
Xirp2	A	T	2: 67,516,535 (GRCm38)	E3040V	probably damaging	Het
Zfp629	C	A	7: 127,610,586 (GRCm38)	G684W	probably damaging	Het

Other mutations in Fbn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Fbn2	APN	18	58,037,809 (GRCm38)	missense	possibly damaging	0.81
IGL00780:Fbn2	APN	18	58,095,988 (GRCm38)	missense	probably damaging	1.00
IGL00923:Fbn2	APN	18	58,012,325 (GRCm38)	missense	probably benign	0.00
IGL01011:Fbn2	APN	18	58,095,240 (GRCm38)	splice site	probably benign
IGL01123:Fbn2	APN	18	58,104,081 (GRCm38)	missense	possibly damaging	0.62
IGL01304:Fbn2	APN	18	58,061,745 (GRCm38)	missense	probably damaging	0.97
IGL01339:Fbn2	APN	18	58,113,370 (GRCm38)	missense	possibly damaging	0.75
IGL01465:Fbn2	APN	18	58,203,833 (GRCm38)	missense	probably null	0.67
IGL01608:Fbn2	APN	18	58,053,704 (GRCm38)	nonsense	probably null
IGL01682:Fbn2	APN	18	58,072,671 (GRCm38)	missense	probably damaging	1.00
IGL01752:Fbn2	APN	18	58,075,977 (GRCm38)	splice site	probably null
IGL01764:Fbn2	APN	18	58,045,351 (GRCm38)	missense	probably damaging	1.00
IGL02002:Fbn2	APN	18	58,114,553 (GRCm38)	missense	probably benign	0.01
IGL02010:Fbn2	APN	18	58,037,722 (GRCm38)	missense	probably damaging	0.99
IGL02029:Fbn2	APN	18	58,209,603 (GRCm38)	missense	probably benign	0.04
IGL02037:Fbn2	APN	18	58,096,015 (GRCm38)	missense	probably damaging	1.00
IGL02350:Fbn2	APN	18	58,103,995 (GRCm38)	missense	possibly damaging	0.71
IGL02357:Fbn2	APN	18	58,103,995 (GRCm38)	missense	possibly damaging	0.71
IGL02653:Fbn2	APN	18	58,076,705 (GRCm38)	missense	probably benign
IGL03233:Fbn2	APN	18	58,102,377 (GRCm38)	missense	probably benign	0.39
IGL03347:Fbn2	APN	18	58,013,665 (GRCm38)	missense	probably damaging	1.00
IGL03410:Fbn2	APN	18	58,050,243 (GRCm38)	missense	possibly damaging	0.95
pinch	UTSW	18	58,069,184 (GRCm38)	missense	probably damaging	1.00
stick	UTSW	18	58,071,819 (GRCm38)	missense	possibly damaging	0.94
tweak	UTSW	18	58,058,389 (GRCm38)	missense	probably damaging	1.00
BB009:Fbn2	UTSW	18	58,020,483 (GRCm38)	missense	possibly damaging	0.61
BB019:Fbn2	UTSW	18	58,020,483 (GRCm38)	missense	possibly damaging	0.61
PIT4434001:Fbn2	UTSW	18	58,096,062 (GRCm38)	missense	probably damaging	0.99
R0020:Fbn2	UTSW	18	58,105,164 (GRCm38)	missense	probably damaging	1.00
R0069:Fbn2	UTSW	18	58,069,184 (GRCm38)	missense	probably damaging	1.00
R0107:Fbn2	UTSW	18	58,056,203 (GRCm38)	missense	probably benign	0.00
R0116:Fbn2	UTSW	18	58,102,373 (GRCm38)	nonsense	probably null
R0277:Fbn2	UTSW	18	58,045,317 (GRCm38)	missense	probably damaging	1.00
R0284:Fbn2	UTSW	18	58,050,290 (GRCm38)	splice site	probably benign
R0316:Fbn2	UTSW	18	58,113,325 (GRCm38)	missense	probably damaging	1.00
R0323:Fbn2	UTSW	18	58,045,317 (GRCm38)	missense	probably damaging	1.00
R0421:Fbn2	UTSW	18	58,027,804 (GRCm38)	splice site	probably benign
R0455:Fbn2	UTSW	18	58,035,336 (GRCm38)	missense	probably damaging	1.00
R0504:Fbn2	UTSW	18	58,039,460 (GRCm38)	missense	possibly damaging	0.94
R0520:Fbn2	UTSW	18	58,013,749 (GRCm38)	missense	probably damaging	1.00
R0632:Fbn2	UTSW	18	58,037,747 (GRCm38)	missense	probably damaging	1.00
R0638:Fbn2	UTSW	18	58,045,374 (GRCm38)	missense	probably damaging	0.98
R0645:Fbn2	UTSW	18	58,058,389 (GRCm38)	missense	probably damaging	1.00
R1051:Fbn2	UTSW	18	58,012,353 (GRCm38)	missense	probably damaging	0.99
R1209:Fbn2	UTSW	18	58,070,016 (GRCm38)	missense	probably benign	0.00
R1319:Fbn2	UTSW	18	58,200,610 (GRCm38)	missense	possibly damaging	0.88
R1400:Fbn2	UTSW	18	58,080,193 (GRCm38)	missense	possibly damaging	0.90
R1437:Fbn2	UTSW	18	58,053,659 (GRCm38)	missense	possibly damaging	0.68
R1463:Fbn2	UTSW	18	58,010,380 (GRCm38)	missense	probably benign
R1612:Fbn2	UTSW	18	58,061,752 (GRCm38)	missense	probably damaging	1.00
R1623:Fbn2	UTSW	18	58,048,548 (GRCm38)	missense	possibly damaging	0.61
R1629:Fbn2	UTSW	18	58,026,538 (GRCm38)	missense	probably damaging	1.00
R1639:Fbn2	UTSW	18	58,058,462 (GRCm38)	missense	probably benign	0.41
R1722:Fbn2	UTSW	18	58,048,052 (GRCm38)	critical splice acceptor site	probably null
R1749:Fbn2	UTSW	18	58,050,276 (GRCm38)	missense	probably benign	0.35
R1802:Fbn2	UTSW	18	58,052,976 (GRCm38)	nonsense	probably null
R1850:Fbn2	UTSW	18	58,039,305 (GRCm38)	splice site	probably benign
R1913:Fbn2	UTSW	18	58,061,742 (GRCm38)	missense	probably damaging	1.00
R2045:Fbn2	UTSW	18	58,090,658 (GRCm38)	missense	probably damaging	1.00
R2064:Fbn2	UTSW	18	58,048,849 (GRCm38)	missense	probably damaging	0.99
R2143:Fbn2	UTSW	18	58,052,993 (GRCm38)	missense	possibly damaging	0.65
R2144:Fbn2	UTSW	18	58,052,993 (GRCm38)	missense	possibly damaging	0.65
R2149:Fbn2	UTSW	18	58,102,325 (GRCm38)	splice site	probably null
R2207:Fbn2	UTSW	18	58,081,399 (GRCm38)	nonsense	probably null
R2219:Fbn2	UTSW	18	58,052,963 (GRCm38)	missense	possibly damaging	0.79
R2263:Fbn2	UTSW	18	58,095,176 (GRCm38)	splice site	probably benign
R2375:Fbn2	UTSW	18	58,035,966 (GRCm38)	missense	probably damaging	1.00
R2424:Fbn2	UTSW	18	58,203,787 (GRCm38)	missense	probably damaging	0.99
R2504:Fbn2	UTSW	18	58,093,359 (GRCm38)	missense	probably damaging	0.99
R2879:Fbn2	UTSW	18	58,069,242 (GRCm38)	missense	probably damaging	0.97
R3040:Fbn2	UTSW	18	58,093,387 (GRCm38)	missense	probably damaging	1.00
R3080:Fbn2	UTSW	18	58,149,050 (GRCm38)	missense	probably damaging	0.97
R3625:Fbn2	UTSW	18	58,061,742 (GRCm38)	missense	probably damaging	1.00
R3901:Fbn2	UTSW	18	58,066,011 (GRCm38)	missense	probably damaging	0.97
R4089:Fbn2	UTSW	18	58,053,769 (GRCm38)	missense	probably benign	0.01
R4133:Fbn2	UTSW	18	58,095,962 (GRCm38)	missense	possibly damaging	0.82
R4155:Fbn2	UTSW	18	58,023,287 (GRCm38)	nonsense	probably null
R4288:Fbn2	UTSW	18	58,035,339 (GRCm38)	missense	probably damaging	0.98
R4289:Fbn2	UTSW	18	58,035,339 (GRCm38)	missense	probably damaging	0.98
R4363:Fbn2	UTSW	18	58,149,050 (GRCm38)	missense	probably damaging	0.97
R4559:Fbn2	UTSW	18	58,076,074 (GRCm38)	missense	probably benign	0.00
R4601:Fbn2	UTSW	18	58,053,733 (GRCm38)	missense	probably damaging	1.00
R4609:Fbn2	UTSW	18	58,190,269 (GRCm38)	nonsense	probably null
R4626:Fbn2	UTSW	18	58,013,747 (GRCm38)	nonsense	probably null
R4638:Fbn2	UTSW	18	58,010,304 (GRCm38)	missense	probably benign	0.01
R4675:Fbn2	UTSW	18	58,040,193 (GRCm38)	missense	possibly damaging	0.95
R4707:Fbn2	UTSW	18	58,056,272 (GRCm38)	missense	probably damaging	1.00
R4945:Fbn2	UTSW	18	58,050,253 (GRCm38)	missense	possibly damaging	0.53
R4955:Fbn2	UTSW	18	58,058,383 (GRCm38)	missense	possibly damaging	0.61
R4980:Fbn2	UTSW	18	58,010,631 (GRCm38)	missense	probably benign	0.05
R4998:Fbn2	UTSW	18	58,072,631 (GRCm38)	missense	probably damaging	1.00
R5133:Fbn2	UTSW	18	58,039,340 (GRCm38)	missense	probably damaging	0.99
R5322:Fbn2	UTSW	18	58,039,315 (GRCm38)	missense	probably benign	0.00
R5414:Fbn2	UTSW	18	58,093,405 (GRCm38)	missense	probably damaging	0.96
R5538:Fbn2	UTSW	18	58,071,901 (GRCm38)	missense	probably benign	0.22
R5557:Fbn2	UTSW	18	58,115,659 (GRCm38)	missense	probably benign	0.00
R5754:Fbn2	UTSW	18	58,124,311 (GRCm38)	missense	probably benign	0.04
R5769:Fbn2	UTSW	18	58,105,199 (GRCm38)	missense	probably damaging	1.00
R5790:Fbn2	UTSW	18	58,076,696 (GRCm38)	missense	probably benign	0.34
R5830:Fbn2	UTSW	18	58,114,469 (GRCm38)	missense	probably benign	0.01
R5845:Fbn2	UTSW	18	58,053,768 (GRCm38)	missense	possibly damaging	0.89
R5880:Fbn2	UTSW	18	58,023,282 (GRCm38)	nonsense	probably null
R5907:Fbn2	UTSW	18	58,045,337 (GRCm38)	missense	probably damaging	1.00
R5948:Fbn2	UTSW	18	58,037,049 (GRCm38)	missense	probably damaging	1.00
R5955:Fbn2	UTSW	18	58,044,256 (GRCm38)	missense	probably damaging	1.00
R5974:Fbn2	UTSW	18	58,048,920 (GRCm38)	missense	probably damaging	1.00
R6010:Fbn2	UTSW	18	58,069,524 (GRCm38)	missense	probably benign	0.31
R6024:Fbn2	UTSW	18	58,076,836 (GRCm38)	missense	probably benign	0.03
R6037:Fbn2	UTSW	18	58,044,223 (GRCm38)	missense	probably benign	0.05
R6037:Fbn2	UTSW	18	58,044,223 (GRCm38)	missense	probably benign	0.05
R6315:Fbn2	UTSW	18	58,054,953 (GRCm38)	critical splice acceptor site	probably null
R6437:Fbn2	UTSW	18	58,113,363 (GRCm38)	missense	probably damaging	1.00
R6519:Fbn2	UTSW	18	58,063,575 (GRCm38)	missense	possibly damaging	0.61
R6520:Fbn2	UTSW	18	58,102,390 (GRCm38)	missense	probably damaging	1.00
R6734:Fbn2	UTSW	18	58,035,960 (GRCm38)	missense	probably damaging	1.00
R6755:Fbn2	UTSW	18	58,113,333 (GRCm38)	missense	possibly damaging	0.89
R6789:Fbn2	UTSW	18	58,010,614 (GRCm38)	missense	probably benign	0.00
R6801:Fbn2	UTSW	18	58,113,348 (GRCm38)	missense	probably benign	0.04
R6862:Fbn2	UTSW	18	58,124,321 (GRCm38)	missense	probably benign	0.04
R6900:Fbn2	UTSW	18	58,076,831 (GRCm38)	missense	probably benign
R6906:Fbn2	UTSW	18	58,071,819 (GRCm38)	missense	possibly damaging	0.94
R6919:Fbn2	UTSW	18	58,124,187 (GRCm38)	splice site	probably null
R6950:Fbn2	UTSW	18	58,035,921 (GRCm38)	missense	probably null	0.21
R6985:Fbn2	UTSW	18	58,068,388 (GRCm38)	missense	probably damaging	1.00
R7056:Fbn2	UTSW	18	58,076,726 (GRCm38)	missense	probably benign
R7199:Fbn2	UTSW	18	58,053,761 (GRCm38)	nonsense	probably null
R7219:Fbn2	UTSW	18	58,053,027 (GRCm38)	missense	probably benign	0.04
R7226:Fbn2	UTSW	18	58,037,070 (GRCm38)	missense	probably damaging	1.00
R7260:Fbn2	UTSW	18	58,066,116 (GRCm38)	missense	probably benign	0.14
R7414:Fbn2	UTSW	18	58,096,050 (GRCm38)	missense	probably damaging	1.00
R7485:Fbn2	UTSW	18	58,071,840 (GRCm38)	missense	possibly damaging	0.50
R7523:Fbn2	UTSW	18	58,066,080 (GRCm38)	missense	probably benign	0.01
R7549:Fbn2	UTSW	18	58,020,464 (GRCm38)	nonsense	probably null
R7619:Fbn2	UTSW	18	58,080,227 (GRCm38)	missense	possibly damaging	0.46
R7638:Fbn2	UTSW	18	58,105,136 (GRCm38)	missense	probably damaging	1.00
R7789:Fbn2	UTSW	18	58,039,313 (GRCm38)	missense	probably benign	0.22
R7932:Fbn2	UTSW	18	58,020,483 (GRCm38)	missense	possibly damaging	0.61
R8013:Fbn2	UTSW	18	58,104,081 (GRCm38)	missense	possibly damaging	0.62
R8076:Fbn2	UTSW	18	58,026,424 (GRCm38)	nonsense	probably null
R8300:Fbn2	UTSW	18	58,209,615 (GRCm38)	missense	probably benign
R8345:Fbn2	UTSW	18	58,058,431 (GRCm38)	missense	probably damaging	1.00
R8487:Fbn2	UTSW	18	58,020,390 (GRCm38)	missense	possibly damaging	0.53
R8520:Fbn2	UTSW	18	58,038,198 (GRCm38)	critical splice donor site	probably null
R8781:Fbn2	UTSW	18	58,061,647 (GRCm38)	missense	possibly damaging	0.88
R8801:Fbn2	UTSW	18	58,153,949 (GRCm38)	missense	probably damaging	1.00
R8857:Fbn2	UTSW	18	58,153,861 (GRCm38)	missense	probably damaging	1.00
R8878:Fbn2	UTSW	18	58,124,246 (GRCm38)	missense	probably benign	0.30
R8909:Fbn2	UTSW	18	58,059,436 (GRCm38)	missense	possibly damaging	0.88
R8973:Fbn2	UTSW	18	58,153,856 (GRCm38)	missense	probably damaging	1.00
R8975:Fbn2	UTSW	18	58,153,856 (GRCm38)	missense	probably damaging	1.00
R8979:Fbn2	UTSW	18	58,153,856 (GRCm38)	missense	probably damaging	1.00
R8991:Fbn2	UTSW	18	58,106,323 (GRCm38)	missense	probably damaging	1.00
R9003:Fbn2	UTSW	18	58,043,519 (GRCm38)	missense	probably damaging	1.00
R9205:Fbn2	UTSW	18	58,059,356 (GRCm38)	missense	probably damaging	1.00
R9215:Fbn2	UTSW	18	58,076,675 (GRCm38)	missense	probably damaging	1.00
R9263:Fbn2	UTSW	18	58,124,272 (GRCm38)	missense	probably damaging	1.00
R9307:Fbn2	UTSW	18	58,209,784 (GRCm38)	missense	probably benign
R9337:Fbn2	UTSW	18	58,209,651 (GRCm38)	missense	probably benign
R9403:Fbn2	UTSW	18	58,066,107 (GRCm38)	missense	probably damaging	1.00
R9501:Fbn2	UTSW	18	58,076,058 (GRCm38)	missense	probably damaging	1.00
R9503:Fbn2	UTSW	18	58,038,241 (GRCm38)	missense	probably damaging	1.00
R9509:Fbn2	UTSW	18	58,114,478 (GRCm38)	missense	probably benign	0.22
R9561:Fbn2	UTSW	18	58,048,539 (GRCm38)	nonsense	probably null
R9565:Fbn2	UTSW	18	58,095,226 (GRCm38)	missense	probably benign	0.20
R9652:Fbn2	UTSW	18	58,013,650 (GRCm38)	critical splice donor site	probably null
R9659:Fbn2	UTSW	18	58,209,582 (GRCm38)	missense	probably damaging	0.98
R9679:Fbn2	UTSW	18	58,068,361 (GRCm38)	missense	probably damaging	1.00
R9683:Fbn2	UTSW	18	58,053,027 (GRCm38)	missense	probably benign	0.04
R9773:Fbn2	UTSW	18	58,010,409 (GRCm38)	missense	probably benign
X0062:Fbn2	UTSW	18	58,056,213 (GRCm38)	missense	probably damaging	1.00
Z1177:Fbn2	UTSW	18	58,069,190 (GRCm38)	missense	probably damaging	1.00
Z1177:Fbn2	UTSW	18	58,055,482 (GRCm38)	missense	probably benign	0.00
Z1177:Fbn2	UTSW	18	58,010,379 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGCATAGAGTACCAGACTTTCAG -3'
(R):5'- GATGGTCCACTGAAAACCAAGC -3'

Sequencing Primer
(F):5'- CCAGACTTTCAGGCAGAATTTTG -3'
(R):5'- ACTGGTACCCGGTCTTGAC -3'

Posted On

2015-11-11