Mutagenetix > Incidental Mutation

Incidental Mutation 'R0316:Fbn2'

34233

Institutional Source

Beutler Lab

Gene Symbol

Fbn2

Ensembl Gene

ENSMUSG00000024598

Gene Name

fibrillin 2

Synonyms

sy, Sne, Fib-2

MMRRC Submission

038526-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R0316 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58141689-58343200 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58246397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 502 (R502W)

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: R502W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025497
Gene: ENSMUSG00000024598
AA Change: R502W

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.2%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,888,765 (GRCm39)	F276I	probably damaging	Het
Ado	A	G	10: 67,384,548 (GRCm39)	L19P	possibly damaging	Het
Ago2	T	C	15: 73,002,725 (GRCm39)	H169R	probably damaging	Het
Asic1	G	A	15: 99,569,819 (GRCm39)	A47T	probably benign	Het
Atg16l2	A	T	7: 100,942,603 (GRCm39)	I364N	probably damaging	Het
C130050O18Rik	G	A	5: 139,400,313 (GRCm39)	R122Q	probably damaging	Het
Capn7	T	A	14: 31,069,766 (GRCm39)	C197S	probably benign	Het
Casp16	T	C	17: 23,771,066 (GRCm39)	D113G	probably damaging	Het
Cdh18	T	A	15: 23,366,999 (GRCm39)	V235D	probably damaging	Het
Clca4a	G	T	3: 144,659,525 (GRCm39)	T777K	probably damaging	Het
Col17a1	A	G	19: 47,673,972 (GRCm39)		probably null	Het
Col5a3	C	A	9: 20,686,621 (GRCm39)	D1335Y	unknown	Het
Cpxm1	T	C	2: 130,235,091 (GRCm39)	E576G	probably damaging	Het
Dcbld2	T	C	16: 58,253,808 (GRCm39)	S182P	probably damaging	Het
Dclk1	C	T	3: 55,410,313 (GRCm39)	S616L	probably damaging	Het
Dll4	C	A	2: 119,161,634 (GRCm39)	D405E	probably damaging	Het
Dnah1	G	A	14: 31,000,108 (GRCm39)	R2462C	probably benign	Het
Dnah3	A	T	7: 119,564,882 (GRCm39)	Y2594N	possibly damaging	Het
Ess2	G	A	16: 17,727,958 (GRCm39)	P103S	probably benign	Het
Fam110a	C	A	2: 151,812,006 (GRCm39)	A255S	probably benign	Het
Fgl2	A	G	5: 21,580,521 (GRCm39)	S288G	possibly damaging	Het
Gm1527	T	C	3: 28,969,923 (GRCm39)	S342P	probably damaging	Het
Gm19668	A	T	10: 77,634,564 (GRCm39)		probably benign	Het
Gm5901	A	T	7: 105,026,522 (GRCm39)	T97S	probably damaging	Het
Greb1l	A	G	18: 10,547,420 (GRCm39)	Y1546C	probably damaging	Het
Impg1	A	T	9: 80,249,347 (GRCm39)	S619T	probably damaging	Het
Itih2	C	A	2: 10,110,057 (GRCm39)	Q565H	possibly damaging	Het
Kbtbd6	T	A	14: 79,690,464 (GRCm39)	N386K	probably benign	Het
Lama3	T	C	18: 12,652,934 (GRCm39)	M218T	probably benign	Het
Lipg	T	C	18: 75,094,012 (GRCm39)	S12G	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mex3d	G	T	10: 80,217,505 (GRCm39)	P571T	probably damaging	Het
Neb	A	C	2: 52,085,482 (GRCm39)	Y1538D	possibly damaging	Het
Nsd1	T	C	13: 55,361,584 (GRCm39)	I184T	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5b99	T	A	19: 12,976,766 (GRCm39)	C139S	probably damaging	Het
Or5w18	T	C	2: 87,633,525 (GRCm39)	F264S	probably damaging	Het
Pacs1	T	C	19: 5,185,149 (GRCm39)		silent	Het
Pdcd11	T	C	19: 47,101,611 (GRCm39)	V932A	probably damaging	Het
Pkd2	A	G	5: 104,625,032 (GRCm39)	D276G	probably damaging	Het
Pkia	T	A	3: 7,502,499 (GRCm39)	D25E	probably damaging	Het
Plxna2	A	C	1: 194,326,458 (GRCm39)	S131R	probably damaging	Het
Prelid1	T	C	13: 55,472,220 (GRCm39)	V132A	possibly damaging	Het
Psma3	T	C	12: 71,030,163 (GRCm39)	Y59H	probably benign	Het
Ptchd3	A	C	11: 121,732,916 (GRCm39)	E602A	possibly damaging	Het
Ptpro	T	C	6: 137,353,987 (GRCm39)	V121A	possibly damaging	Het
Ptprt	A	G	2: 161,449,239 (GRCm39)	L878P	probably damaging	Het
Pxn	G	A	5: 115,692,027 (GRCm39)	G370S	probably damaging	Het
Rcn2	G	T	9: 55,949,453 (GRCm39)	A40S	probably benign	Het
Rnf215	A	G	11: 4,089,760 (GRCm39)	N258D	probably damaging	Het
Rnpc3	T	C	3: 113,423,622 (GRCm39)	T28A	probably damaging	Het
Rtel1	T	A	2: 180,997,795 (GRCm39)	V1100E	possibly damaging	Het
Scn3a	T	A	2: 65,291,173 (GRCm39)	I1858F	probably damaging	Het
Slc9c1	G	A	16: 45,400,595 (GRCm39)	R735Q	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Spata13	A	G	14: 60,929,788 (GRCm39)	T449A	probably benign	Het
Svep1	A	G	4: 58,072,737 (GRCm39)	W2191R	probably damaging	Het
Thbs1	G	A	2: 117,948,055 (GRCm39)	R405H	probably damaging	Het
Tnn	A	G	1: 159,948,137 (GRCm39)	Y859H	possibly damaging	Het
Tonsl	A	G	15: 76,513,500 (GRCm39)	S1245P	possibly damaging	Het
Tpcn1	G	A	5: 120,677,324 (GRCm39)	T661M	probably damaging	Het
Trap1	A	G	16: 3,863,424 (GRCm39)	F533L	probably benign	Het
Ttc23	T	C	7: 67,328,821 (GRCm39)		probably null	Het
Vax2	T	C	6: 83,688,426 (GRCm39)	S50P	possibly damaging	Het
Vmn1r5	A	C	6: 56,962,784 (GRCm39)	E153A	probably benign	Het
Vmn2r14	G	T	5: 109,366,762 (GRCm39)	P486Q	probably benign	Het
Vmn2r96	T	A	17: 18,802,827 (GRCm39)	F246I	probably damaging	Het
Zc3h10	C	A	10: 128,380,624 (GRCm39)	E244D	probably damaging	Het
Zdhhc18	T	A	4: 133,340,966 (GRCm39)	K265*	probably null	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
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
R6755:Fbn2	UTSW	18	58,246,405 (GRCm39)	missense	possibly damaging	0.89
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'- TTTGATGGGATATAAGGGCAGCAACC -3'
(R):5'- TCCAGATGTGTGACTTACAGATGCAAC -3'

Sequencing Primer
(F):5'- CAGCAACCAGTTAAGGGGC -3'
(R):5'- ataaaataCAGAGTAATGCAGGCTTC -3'

Posted On

2013-05-09