Mutagenetix > Incidental Mutation

Incidental Mutation 'R6755:Fbn2'

531045

Institutional Source

Beutler Lab

Gene Symbol

Fbn2

Ensembl Gene

ENSMUSG00000024598

Gene Name

fibrillin 2

Synonyms

sy, Sne, Fib-2

MMRRC Submission

044871-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R6755 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58141689-58343200 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58246405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 499 (L499S)

Ref Sequence

ENSEMBL: ENSMUSP00000025497 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025497
AA Change: L499S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025497
Gene: ENSMUSG00000024598
AA Change: L499S

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,475,994 (GRCm39)	T1101M	probably benign	Het
4930433I11Rik	T	C	7: 40,643,734 (GRCm39)	S468P	probably damaging	Het
Adam33	A	G	2: 130,895,069 (GRCm39)	V637A	probably damaging	Het
Adcy5	G	A	16: 35,124,004 (GRCm39)	V1228M	possibly damaging	Het
Ahi1	G	T	10: 20,893,812 (GRCm39)	V848F	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
B4galt6	T	C	18: 20,822,386 (GRCm39)	E264G	probably benign	Het
Bpifb4	A	G	2: 153,799,658 (GRCm39)	T556A	probably damaging	Het
Bptf	A	T	11: 106,938,082 (GRCm39)	S64T	probably benign	Het
C3ar1	A	G	6: 122,826,817 (GRCm39)	S467P	probably benign	Het
Cables1	G	T	18: 12,072,882 (GRCm39)	S479I	probably null	Het
Cbl	T	C	9: 44,084,671 (GRCm39)	I155V	probably damaging	Het
Cdh16	T	C	8: 105,345,880 (GRCm39)	D297G	probably damaging	Het
Cdk8	T	A	5: 146,205,126 (GRCm39)	H102Q	probably damaging	Het
Cpn2	A	T	16: 30,079,149 (GRCm39)	L184Q	probably damaging	Het
Ctso	T	A	3: 81,849,609 (GRCm39)	H109Q	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drc1	A	G	5: 30,512,490 (GRCm39)	E299G	probably damaging	Het
Elp6	A	G	9: 110,144,893 (GRCm39)	E150G	possibly damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fgf10	C	A	13: 118,925,821 (GRCm39)	A200D	probably damaging	Het
Fhad1	T	C	4: 141,691,915 (GRCm39)	E407G	probably damaging	Het
Hif1an	T	C	19: 44,556,891 (GRCm39)	V232A	probably damaging	Het
Ift172	T	A	5: 31,418,342 (GRCm39)	K1214*	probably null	Het
Il20ra	T	C	10: 19,626,542 (GRCm39)	Y189H	probably benign	Het
Isg20l2	T	A	3: 87,838,996 (GRCm39)	I69N	probably benign	Het
Kif11	A	G	19: 37,398,199 (GRCm39)	D675G	probably benign	Het
Klhdc7a	T	A	4: 139,693,786 (GRCm39)	D387V	possibly damaging	Het
Lrrc4	T	C	6: 28,831,292 (GRCm39)	N108D	probably damaging	Het
Ltbp2	T	A	12: 84,841,847 (GRCm39)	E944V	probably damaging	Het
Magi1	C	T	6: 93,685,158 (GRCm39)	S740N	probably damaging	Het
Med26	A	G	8: 73,249,677 (GRCm39)	I474T	probably damaging	Het
Mgst1	T	A	6: 138,124,770 (GRCm39)	M68K	probably damaging	Het
Myh7	G	A	14: 55,229,770 (GRCm39)	A91V	possibly damaging	Het
Nhlrc2	G	A	19: 56,580,216 (GRCm39)	V450I	probably benign	Het
Nup160	T	G	2: 90,530,800 (GRCm39)	F486C	probably damaging	Het
Nup50l	T	C	6: 96,141,953 (GRCm39)	T364A	probably benign	Het
Obscn	A	T	11: 58,994,152 (GRCm39)	Y1602N	probably damaging	Het
Or52ae9	T	A	7: 103,389,707 (GRCm39)	T247S	probably damaging	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otogl	A	T	10: 107,689,164 (GRCm39)	Y955*	probably null	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pianp	T	C	6: 124,976,347 (GRCm39)	V52A	probably benign	Het
Plekhh2	T	C	17: 84,899,013 (GRCm39)	Y997H	probably damaging	Het
Plekhm1	G	T	11: 103,278,069 (GRCm39)	S342R	possibly damaging	Het
Poglut2	C	T	1: 44,149,894 (GRCm39)		probably null	Het
Ppp4r4	T	A	12: 103,551,996 (GRCm39)	V81E	probably damaging	Het
Pramel52-ps	A	G	5: 94,529,268 (GRCm39)	T13A	probably benign	Het
Ptafr	A	G	4: 132,306,657 (GRCm39)	T16A	probably benign	Het
Ptpn23	A	T	9: 110,218,855 (GRCm39)	L445Q	probably damaging	Het
Rasa1	A	T	13: 85,374,717 (GRCm39)	F751L	possibly damaging	Het
Sap18	A	C	14: 58,039,474 (GRCm39)	D153A	probably damaging	Het
Slc38a11	C	T	2: 65,194,235 (GRCm39)	G10D	probably benign	Het
Snx32	T	C	19: 5,560,372 (GRCm39)	N10D	probably benign	Het
Sox6	T	C	7: 115,261,677 (GRCm39)	T180A	probably damaging	Het
Srrt	T	C	5: 137,301,192 (GRCm39)	K78R	probably damaging	Het
Syce3	T	C	15: 89,281,567 (GRCm39)	D24G	probably damaging	Het
Taok3	T	A	5: 117,344,732 (GRCm39)	I153N	probably damaging	Het
Tesk1	A	G	4: 43,445,991 (GRCm39)	Q308R	probably benign	Het
Tm7sf3	A	T	6: 146,511,471 (GRCm39)		probably null	Het
Tmbim6	T	C	15: 99,300,034 (GRCm39)	V50A	probably benign	Het
Tmem107	T	C	11: 68,961,837 (GRCm39)	V22A	probably damaging	Het
Ttc12	T	C	9: 49,364,646 (GRCm39)	I377V	probably benign	Het
Ufl1	T	A	4: 25,262,316 (GRCm39)	N310I	probably damaging	Het
Ush2a	C	A	1: 188,175,416 (GRCm39)	N1171K	possibly damaging	Het
Utrn	A	T	10: 12,574,831 (GRCm39)	V1032E	probably benign	Het

Other mutations in Fbn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Fbn2	APN	18	58,170,881 (GRCm39)	missense	possibly damaging	0.81
IGL00780:Fbn2	APN	18	58,229,060 (GRCm39)	missense	probably damaging	1.00
IGL00923:Fbn2	APN	18	58,145,397 (GRCm39)	missense	probably benign	0.00
IGL01011:Fbn2	APN	18	58,228,312 (GRCm39)	splice site	probably benign
IGL01123:Fbn2	APN	18	58,237,153 (GRCm39)	missense	possibly damaging	0.62
IGL01304:Fbn2	APN	18	58,194,817 (GRCm39)	missense	probably damaging	0.97
IGL01339:Fbn2	APN	18	58,246,442 (GRCm39)	missense	possibly damaging	0.75
IGL01465:Fbn2	APN	18	58,336,905 (GRCm39)	missense	probably null	0.67
IGL01608:Fbn2	APN	18	58,186,776 (GRCm39)	nonsense	probably null
IGL01682:Fbn2	APN	18	58,205,743 (GRCm39)	missense	probably damaging	1.00
IGL01752:Fbn2	APN	18	58,209,049 (GRCm39)	splice site	probably null
IGL01764:Fbn2	APN	18	58,178,423 (GRCm39)	missense	probably damaging	1.00
IGL02002:Fbn2	APN	18	58,247,625 (GRCm39)	missense	probably benign	0.01
IGL02010:Fbn2	APN	18	58,170,794 (GRCm39)	missense	probably damaging	0.99
IGL02029:Fbn2	APN	18	58,342,675 (GRCm39)	missense	probably benign	0.04
IGL02037:Fbn2	APN	18	58,229,087 (GRCm39)	missense	probably damaging	1.00
IGL02350:Fbn2	APN	18	58,237,067 (GRCm39)	missense	possibly damaging	0.71
IGL02357:Fbn2	APN	18	58,237,067 (GRCm39)	missense	possibly damaging	0.71
IGL02653:Fbn2	APN	18	58,209,777 (GRCm39)	missense	probably benign
IGL03233:Fbn2	APN	18	58,235,449 (GRCm39)	missense	probably benign	0.39
IGL03347:Fbn2	APN	18	58,146,737 (GRCm39)	missense	probably damaging	1.00
IGL03410:Fbn2	APN	18	58,183,315 (GRCm39)	missense	possibly damaging	0.95
pinch	UTSW	18	58,202,256 (GRCm39)	missense	probably damaging	1.00
stick	UTSW	18	58,204,891 (GRCm39)	missense	possibly damaging	0.94
tweak	UTSW	18	58,191,461 (GRCm39)	missense	probably damaging	1.00
BB009:Fbn2	UTSW	18	58,153,555 (GRCm39)	missense	possibly damaging	0.61
BB019:Fbn2	UTSW	18	58,153,555 (GRCm39)	missense	possibly damaging	0.61
PIT4434001:Fbn2	UTSW	18	58,229,134 (GRCm39)	missense	probably damaging	0.99
R0020:Fbn2	UTSW	18	58,238,236 (GRCm39)	missense	probably damaging	1.00
R0069:Fbn2	UTSW	18	58,202,256 (GRCm39)	missense	probably damaging	1.00
R0107:Fbn2	UTSW	18	58,189,275 (GRCm39)	missense	probably benign	0.00
R0116:Fbn2	UTSW	18	58,235,445 (GRCm39)	nonsense	probably null
R0277:Fbn2	UTSW	18	58,178,389 (GRCm39)	missense	probably damaging	1.00
R0284:Fbn2	UTSW	18	58,183,362 (GRCm39)	splice site	probably benign
R0316:Fbn2	UTSW	18	58,246,397 (GRCm39)	missense	probably damaging	1.00
R0323:Fbn2	UTSW	18	58,178,389 (GRCm39)	missense	probably damaging	1.00
R0421:Fbn2	UTSW	18	58,160,876 (GRCm39)	splice site	probably benign
R0455:Fbn2	UTSW	18	58,168,408 (GRCm39)	missense	probably damaging	1.00
R0504:Fbn2	UTSW	18	58,172,532 (GRCm39)	missense	possibly damaging	0.94
R0520:Fbn2	UTSW	18	58,146,821 (GRCm39)	missense	probably damaging	1.00
R0632:Fbn2	UTSW	18	58,170,819 (GRCm39)	missense	probably damaging	1.00
R0638:Fbn2	UTSW	18	58,178,446 (GRCm39)	missense	probably damaging	0.98
R0645:Fbn2	UTSW	18	58,191,461 (GRCm39)	missense	probably damaging	1.00
R1051:Fbn2	UTSW	18	58,145,425 (GRCm39)	missense	probably damaging	0.99
R1209:Fbn2	UTSW	18	58,203,088 (GRCm39)	missense	probably benign	0.00
R1319:Fbn2	UTSW	18	58,333,682 (GRCm39)	missense	possibly damaging	0.88
R1400:Fbn2	UTSW	18	58,213,265 (GRCm39)	missense	possibly damaging	0.90
R1437:Fbn2	UTSW	18	58,186,731 (GRCm39)	missense	possibly damaging	0.68
R1463:Fbn2	UTSW	18	58,143,452 (GRCm39)	missense	probably benign
R1612:Fbn2	UTSW	18	58,194,824 (GRCm39)	missense	probably damaging	1.00
R1623:Fbn2	UTSW	18	58,181,620 (GRCm39)	missense	possibly damaging	0.61
R1629:Fbn2	UTSW	18	58,159,610 (GRCm39)	missense	probably damaging	1.00
R1639:Fbn2	UTSW	18	58,191,534 (GRCm39)	missense	probably benign	0.41
R1722:Fbn2	UTSW	18	58,181,124 (GRCm39)	critical splice acceptor site	probably null
R1749:Fbn2	UTSW	18	58,183,348 (GRCm39)	missense	probably benign	0.35
R1802:Fbn2	UTSW	18	58,186,048 (GRCm39)	nonsense	probably null
R1850:Fbn2	UTSW	18	58,172,377 (GRCm39)	splice site	probably benign
R1913:Fbn2	UTSW	18	58,194,814 (GRCm39)	missense	probably damaging	1.00
R2045:Fbn2	UTSW	18	58,223,730 (GRCm39)	missense	probably damaging	1.00
R2064:Fbn2	UTSW	18	58,181,921 (GRCm39)	missense	probably damaging	0.99
R2143:Fbn2	UTSW	18	58,186,065 (GRCm39)	missense	possibly damaging	0.65
R2144:Fbn2	UTSW	18	58,186,065 (GRCm39)	missense	possibly damaging	0.65
R2149:Fbn2	UTSW	18	58,235,397 (GRCm39)	splice site	probably null
R2207:Fbn2	UTSW	18	58,214,471 (GRCm39)	nonsense	probably null
R2219:Fbn2	UTSW	18	58,186,035 (GRCm39)	missense	possibly damaging	0.79
R2263:Fbn2	UTSW	18	58,228,248 (GRCm39)	splice site	probably benign
R2375:Fbn2	UTSW	18	58,169,038 (GRCm39)	missense	probably damaging	1.00
R2424:Fbn2	UTSW	18	58,336,859 (GRCm39)	missense	probably damaging	0.99
R2504:Fbn2	UTSW	18	58,226,431 (GRCm39)	missense	probably damaging	0.99
R2879:Fbn2	UTSW	18	58,202,314 (GRCm39)	missense	probably damaging	0.97
R3040:Fbn2	UTSW	18	58,226,459 (GRCm39)	missense	probably damaging	1.00
R3080:Fbn2	UTSW	18	58,282,122 (GRCm39)	missense	probably damaging	0.97
R3625:Fbn2	UTSW	18	58,194,814 (GRCm39)	missense	probably damaging	1.00
R3901:Fbn2	UTSW	18	58,199,083 (GRCm39)	missense	probably damaging	0.97
R4089:Fbn2	UTSW	18	58,186,841 (GRCm39)	missense	probably benign	0.01
R4133:Fbn2	UTSW	18	58,229,034 (GRCm39)	missense	possibly damaging	0.82
R4155:Fbn2	UTSW	18	58,156,359 (GRCm39)	nonsense	probably null
R4288:Fbn2	UTSW	18	58,168,411 (GRCm39)	missense	probably damaging	0.98
R4289:Fbn2	UTSW	18	58,168,411 (GRCm39)	missense	probably damaging	0.98
R4363:Fbn2	UTSW	18	58,282,122 (GRCm39)	missense	probably damaging	0.97
R4559:Fbn2	UTSW	18	58,209,146 (GRCm39)	missense	probably benign	0.00
R4601:Fbn2	UTSW	18	58,186,805 (GRCm39)	missense	probably damaging	1.00
R4609:Fbn2	UTSW	18	58,323,341 (GRCm39)	nonsense	probably null
R4626:Fbn2	UTSW	18	58,146,819 (GRCm39)	nonsense	probably null
R4638:Fbn2	UTSW	18	58,143,376 (GRCm39)	missense	probably benign	0.01
R4675:Fbn2	UTSW	18	58,173,265 (GRCm39)	missense	possibly damaging	0.95
R4707:Fbn2	UTSW	18	58,189,344 (GRCm39)	missense	probably damaging	1.00
R4758:Fbn2	UTSW	18	58,159,458 (GRCm39)	missense	probably benign	0.00
R4945:Fbn2	UTSW	18	58,183,325 (GRCm39)	missense	possibly damaging	0.53
R4955:Fbn2	UTSW	18	58,191,455 (GRCm39)	missense	possibly damaging	0.61
R4980:Fbn2	UTSW	18	58,143,703 (GRCm39)	missense	probably benign	0.05
R4998:Fbn2	UTSW	18	58,205,703 (GRCm39)	missense	probably damaging	1.00
R5133:Fbn2	UTSW	18	58,172,412 (GRCm39)	missense	probably damaging	0.99
R5322:Fbn2	UTSW	18	58,172,387 (GRCm39)	missense	probably benign	0.00
R5414:Fbn2	UTSW	18	58,226,477 (GRCm39)	missense	probably damaging	0.96
R5538:Fbn2	UTSW	18	58,204,973 (GRCm39)	missense	probably benign	0.22
R5557:Fbn2	UTSW	18	58,248,731 (GRCm39)	missense	probably benign	0.00
R5754:Fbn2	UTSW	18	58,257,383 (GRCm39)	missense	probably benign	0.04
R5769:Fbn2	UTSW	18	58,238,271 (GRCm39)	missense	probably damaging	1.00
R5790:Fbn2	UTSW	18	58,209,768 (GRCm39)	missense	probably benign	0.34
R5830:Fbn2	UTSW	18	58,247,541 (GRCm39)	missense	probably benign	0.01
R5845:Fbn2	UTSW	18	58,186,840 (GRCm39)	missense	possibly damaging	0.89
R5880:Fbn2	UTSW	18	58,156,354 (GRCm39)	nonsense	probably null
R5907:Fbn2	UTSW	18	58,178,409 (GRCm39)	missense	probably damaging	1.00
R5948:Fbn2	UTSW	18	58,170,121 (GRCm39)	missense	probably damaging	1.00
R5955:Fbn2	UTSW	18	58,177,328 (GRCm39)	missense	probably damaging	1.00
R5974:Fbn2	UTSW	18	58,181,992 (GRCm39)	missense	probably damaging	1.00
R6010:Fbn2	UTSW	18	58,202,596 (GRCm39)	missense	probably benign	0.31
R6024:Fbn2	UTSW	18	58,209,908 (GRCm39)	missense	probably benign	0.03
R6037:Fbn2	UTSW	18	58,177,295 (GRCm39)	missense	probably benign	0.05
R6037:Fbn2	UTSW	18	58,177,295 (GRCm39)	missense	probably benign	0.05
R6315:Fbn2	UTSW	18	58,188,025 (GRCm39)	critical splice acceptor site	probably null
R6437:Fbn2	UTSW	18	58,246,435 (GRCm39)	missense	probably damaging	1.00
R6519:Fbn2	UTSW	18	58,196,647 (GRCm39)	missense	possibly damaging	0.61
R6520:Fbn2	UTSW	18	58,235,462 (GRCm39)	missense	probably damaging	1.00
R6734:Fbn2	UTSW	18	58,169,032 (GRCm39)	missense	probably damaging	1.00
R6789:Fbn2	UTSW	18	58,143,686 (GRCm39)	missense	probably benign	0.00
R6801:Fbn2	UTSW	18	58,246,420 (GRCm39)	missense	probably benign	0.04
R6862:Fbn2	UTSW	18	58,257,393 (GRCm39)	missense	probably benign	0.04
R6900:Fbn2	UTSW	18	58,209,903 (GRCm39)	missense	probably benign
R6906:Fbn2	UTSW	18	58,204,891 (GRCm39)	missense	possibly damaging	0.94
R6919:Fbn2	UTSW	18	58,257,259 (GRCm39)	splice site	probably null
R6950:Fbn2	UTSW	18	58,168,993 (GRCm39)	missense	probably null	0.21
R6985:Fbn2	UTSW	18	58,201,460 (GRCm39)	missense	probably damaging	1.00
R7056:Fbn2	UTSW	18	58,209,798 (GRCm39)	missense	probably benign
R7199:Fbn2	UTSW	18	58,186,833 (GRCm39)	nonsense	probably null
R7219:Fbn2	UTSW	18	58,186,099 (GRCm39)	missense	probably benign	0.04
R7226:Fbn2	UTSW	18	58,170,142 (GRCm39)	missense	probably damaging	1.00
R7260:Fbn2	UTSW	18	58,199,188 (GRCm39)	missense	probably benign	0.14
R7414:Fbn2	UTSW	18	58,229,122 (GRCm39)	missense	probably damaging	1.00
R7485:Fbn2	UTSW	18	58,204,912 (GRCm39)	missense	possibly damaging	0.50
R7523:Fbn2	UTSW	18	58,199,152 (GRCm39)	missense	probably benign	0.01
R7549:Fbn2	UTSW	18	58,153,536 (GRCm39)	nonsense	probably null
R7619:Fbn2	UTSW	18	58,213,299 (GRCm39)	missense	possibly damaging	0.46
R7638:Fbn2	UTSW	18	58,238,208 (GRCm39)	missense	probably damaging	1.00
R7789:Fbn2	UTSW	18	58,172,385 (GRCm39)	missense	probably benign	0.22
R7932:Fbn2	UTSW	18	58,153,555 (GRCm39)	missense	possibly damaging	0.61
R8013:Fbn2	UTSW	18	58,237,153 (GRCm39)	missense	possibly damaging	0.62
R8076:Fbn2	UTSW	18	58,159,496 (GRCm39)	nonsense	probably null
R8300:Fbn2	UTSW	18	58,342,687 (GRCm39)	missense	probably benign
R8345:Fbn2	UTSW	18	58,191,503 (GRCm39)	missense	probably damaging	1.00
R8487:Fbn2	UTSW	18	58,153,462 (GRCm39)	missense	possibly damaging	0.53
R8520:Fbn2	UTSW	18	58,171,270 (GRCm39)	critical splice donor site	probably null
R8781:Fbn2	UTSW	18	58,194,719 (GRCm39)	missense	possibly damaging	0.88
R8801:Fbn2	UTSW	18	58,287,021 (GRCm39)	missense	probably damaging	1.00
R8857:Fbn2	UTSW	18	58,286,933 (GRCm39)	missense	probably damaging	1.00
R8878:Fbn2	UTSW	18	58,257,318 (GRCm39)	missense	probably benign	0.30
R8909:Fbn2	UTSW	18	58,192,508 (GRCm39)	missense	possibly damaging	0.88
R8973:Fbn2	UTSW	18	58,286,928 (GRCm39)	missense	probably damaging	1.00
R8975:Fbn2	UTSW	18	58,286,928 (GRCm39)	missense	probably damaging	1.00
R8979:Fbn2	UTSW	18	58,286,928 (GRCm39)	missense	probably damaging	1.00
R8991:Fbn2	UTSW	18	58,239,395 (GRCm39)	missense	probably damaging	1.00
R9003:Fbn2	UTSW	18	58,176,591 (GRCm39)	missense	probably damaging	1.00
R9205:Fbn2	UTSW	18	58,192,428 (GRCm39)	missense	probably damaging	1.00
R9215:Fbn2	UTSW	18	58,209,747 (GRCm39)	missense	probably damaging	1.00
R9263:Fbn2	UTSW	18	58,257,344 (GRCm39)	missense	probably damaging	1.00
R9307:Fbn2	UTSW	18	58,342,856 (GRCm39)	missense	probably benign
R9337:Fbn2	UTSW	18	58,342,723 (GRCm39)	missense	probably benign
R9403:Fbn2	UTSW	18	58,199,179 (GRCm39)	missense	probably damaging	1.00
R9501:Fbn2	UTSW	18	58,209,130 (GRCm39)	missense	probably damaging	1.00
R9503:Fbn2	UTSW	18	58,171,313 (GRCm39)	missense	probably damaging	1.00
R9509:Fbn2	UTSW	18	58,247,550 (GRCm39)	missense	probably benign	0.22
R9561:Fbn2	UTSW	18	58,181,611 (GRCm39)	nonsense	probably null
R9565:Fbn2	UTSW	18	58,228,298 (GRCm39)	missense	probably benign	0.20
R9652:Fbn2	UTSW	18	58,146,722 (GRCm39)	critical splice donor site	probably null
R9659:Fbn2	UTSW	18	58,342,654 (GRCm39)	missense	probably damaging	0.98
R9679:Fbn2	UTSW	18	58,201,433 (GRCm39)	missense	probably damaging	1.00
R9683:Fbn2	UTSW	18	58,186,099 (GRCm39)	missense	probably benign	0.04
R9773:Fbn2	UTSW	18	58,143,481 (GRCm39)	missense	probably benign
X0062:Fbn2	UTSW	18	58,189,285 (GRCm39)	missense	probably damaging	1.00
Z1177:Fbn2	UTSW	18	58,202,262 (GRCm39)	missense	probably damaging	1.00
Z1177:Fbn2	UTSW	18	58,188,554 (GRCm39)	missense	probably benign	0.00
Z1177:Fbn2	UTSW	18	58,143,451 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCTTAAACATTTGTATTCAGCCCC -3'
(R):5'- GGCTCACAAAGAATGACTACG -3'

Sequencing Primer
(F):5'- CAGCCCCATTTGTTTGTATGG -3'
(R):5'- CTCACAAAGAATGACTACGAGAAAAG -3'

Posted On

2018-08-01