Mutagenetix > Incidental Mutation

Incidental Mutation 'R2045:Fbn2'

221891

Institutional Source

Beutler Lab

Gene Symbol

Fbn2

Ensembl Gene

ENSMUSG00000024598

Gene Name

fibrillin 2

Synonyms

Fib-2, sy, Sne

MMRRC Submission

040052-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R2045 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58008623-58209926 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58090658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 807 (C807S)

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: C807S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025497
Gene: ENSMUSG00000024598
AA Change: C807S

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

0.9751

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,243,399 (GRCm38)	G303E	probably damaging	Het
Adamts1	A	T	16: 85,795,976 (GRCm38)	Y515N	probably damaging	Het
Ankef1	T	C	2: 136,554,738 (GRCm38)	V695A	probably benign	Het
Ankrd63	C	A	2: 118,703,353 (GRCm38)		probably benign	Het
Asah2	A	T	19: 32,052,956 (GRCm38)	N105K	probably benign	Het
Atf2	A	C	2: 73,863,208 (GRCm38)	D3E	probably damaging	Het
Atp5f1	T	C	3: 105,943,874 (GRCm38)		probably benign	Het
Bag4	C	T	8: 25,769,488 (GRCm38)	A228T	probably benign	Het
Bms1	A	C	6: 118,392,627 (GRCm38)	L960W	probably damaging	Het
Cacna1c	A	G	6: 118,656,137 (GRCm38)	V977A	probably damaging	Het
Cadps2	A	G	6: 23,839,122 (GRCm38)	S6P	possibly damaging	Het
Capn8	A	G	1: 182,613,386 (GRCm38)	T462A	probably benign	Het
Cd226	T	C	18: 89,207,362 (GRCm38)	S128P	probably benign	Het
Cd33	G	T	7: 43,529,892 (GRCm38)	H278N	probably benign	Het
Cdh1	T	C	8: 106,666,182 (GRCm38)		probably benign	Het
Cfap54	T	C	10: 93,038,809 (GRCm38)		probably null	Het
Chit1	A	G	1: 134,151,144 (GRCm38)	I397M	probably benign	Het
Cic	C	A	7: 25,271,536 (GRCm38)	Q231K	possibly damaging	Het
Clca4b	A	G	3: 144,925,163 (GRCm38)	V312A	probably damaging	Het
Cngb1	T	A	8: 95,297,085 (GRCm38)		probably null	Het
Cyfip2	T	C	11: 46,249,789 (GRCm38)	I430V	probably benign	Het
Dnah12	A	G	14: 26,781,528 (GRCm38)	E1613G	probably null	Het
Dock2	T	C	11: 34,294,106 (GRCm38)		probably null	Het
Dync2h1	A	T	9: 7,160,171 (GRCm38)	F646I	probably damaging	Het
Eef1b2	A	T	1: 63,179,487 (GRCm38)	K144*	probably null	Het
Erap1	T	C	13: 74,669,450 (GRCm38)	V137A	probably benign	Het
Fam196a	T	G	7: 134,918,430 (GRCm38)	K124Q	probably damaging	Het
Far1	A	T	7: 113,539,271 (GRCm38)		probably null	Het
Fgfr1	A	G	8: 25,558,215 (GRCm38)	K209R	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334 (GRCm38)		probably null	Het
Frem2	A	T	3: 53,535,744 (GRCm38)	V2533D	probably damaging	Het
Hip1r	T	C	5: 124,000,731 (GRCm38)	M839T	probably benign	Het
Igfbp2	A	G	1: 72,852,151 (GRCm38)	S303G	probably benign	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Itgb3	T	G	11: 104,623,413 (GRCm38)	S27A	probably benign	Het
Kif21b	G	A	1: 136,160,313 (GRCm38)	D1015N	probably damaging	Het
Krt7	A	T	15: 101,423,484 (GRCm38)		probably null	Het
Krtdap	T	A	7: 30,790,585 (GRCm38)	F80L	probably benign	Het
Lcp1	A	T	14: 75,200,401 (GRCm38)	T84S	probably benign	Het
Lipi	G	A	16: 75,550,199 (GRCm38)	T444I	probably damaging	Het
Lrguk	A	T	6: 34,071,068 (GRCm38)	E316V	probably damaging	Het
Lypd1	G	A	1: 125,910,535 (GRCm38)		probably benign	Het
Med12l	A	T	3: 59,262,310 (GRCm38)	K1632*	probably null	Het
Mrgpra9	A	T	7: 47,235,835 (GRCm38)	M28K	probably benign	Het
Mylk	A	G	16: 34,953,653 (GRCm38)	K1291E	probably benign	Het
Nek4	T	A	14: 30,953,923 (GRCm38)	W72R	probably damaging	Het
Nudt8	T	C	19: 4,001,899 (GRCm38)	V170A	probably damaging	Het
Oosp3	T	A	19: 11,699,369 (GRCm38)	Y31N	probably benign	Het
Padi2	A	T	4: 140,937,930 (GRCm38)	R449W	probably damaging	Het
Pcf11	G	T	7: 92,661,879 (GRCm38)	N300K	probably damaging	Het
Pcsk5	T	C	19: 17,581,144 (GRCm38)	D633G	possibly damaging	Het
Phlpp2	T	A	8: 109,907,600 (GRCm38)	W271R	probably damaging	Het
Pikfyve	T	C	1: 65,253,353 (GRCm38)	V1276A	probably benign	Het
Pkhd1l1	A	T	15: 44,479,654 (GRCm38)	N176Y	probably damaging	Het
Pop5	T	G	5: 115,238,212 (GRCm38)	V33G	possibly damaging	Het
Prkag2	A	G	5: 24,947,582 (GRCm38)	F175L	possibly damaging	Het
Ptpn22	T	A	3: 103,874,021 (GRCm38)	D79E	possibly damaging	Het
Rab32	T	G	10: 10,550,833 (GRCm38)	D123A	probably damaging	Het
Rnpc3	T	C	3: 113,608,360 (GRCm38)	K513E	possibly damaging	Het
Senp1	A	T	15: 98,059,944 (GRCm38)	F358I	possibly damaging	Het
Sft2d2	A	G	1: 165,185,078 (GRCm38)	L83P	probably damaging	Het
Slc9c1	G	A	16: 45,580,250 (GRCm38)	R741H	probably damaging	Het
Smad4	A	T	18: 73,649,806 (GRCm38)	Y352*	probably null	Het
Tamm41	T	A	6: 115,016,095 (GRCm38)	Q232H	probably benign	Het
Tbx6	T	A	7: 126,782,883 (GRCm38)	L131Q	probably damaging	Het
Trappc10	T	C	10: 78,209,479 (GRCm38)		probably benign	Het
Trp53bp1	C	A	2: 121,204,483 (GRCm38)	A108S	probably benign	Het
Unc13b	G	A	4: 43,091,266 (GRCm38)	V31M	probably damaging	Het
Usp24	T	C	4: 106,400,980 (GRCm38)	M1525T	possibly damaging	Het
Vax2	G	A	6: 83,711,270 (GRCm38)		probably benign	Het
Vcan	T	A	13: 89,690,985 (GRCm38)	I2147L	probably benign	Het
Zbtb7a	C	A	10: 81,144,410 (GRCm38)	A146E	probably benign	Het
Zcchc6	T	C	13: 59,800,656 (GRCm38)	Y215C	probably damaging	Het
Zfp287	A	G	11: 62,727,569 (GRCm38)	L157P	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
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
R4758:Fbn2	UTSW	18	58,026,386 (GRCm38)	missense	probably benign	0.00
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'- TCACTATGACTGATGTTGGTGC -3'
(R):5'- GCTAAGTCCTGTGCATTTTGC -3'

Sequencing Primer
(F):5'- CTATGACTGATGTTGGTGCTTCCTG -3'
(R):5'- ACATAGCATTTGAATAGCACGTGGTG -3'

Posted On

2014-08-25