Mutagenetix > Incidental Mutation

Incidental Mutation 'R2144:Fbn2'

236698

Institutional Source

Beutler Lab

Gene Symbol

Fbn2

Ensembl Gene

ENSMUSG00000024598

Gene Name

fibrillin 2

Synonyms

sy, Sne, Fib-2

MMRRC Submission

040147-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R2144 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58141689-58343200 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58186065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1761 (V1761A)

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: V1761A

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025497
Gene: ENSMUSG00000024598
AA Change: V1761A

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: 97.4%
20x: 95.1%

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	G	A	4: 88,786,411 (GRCm39)	T69I	unknown	Het
4930553M12Rik	T	A	4: 88,786,412 (GRCm39)	T69S	unknown	Het
Acsl6	A	T	11: 54,232,604 (GRCm39)	Q485L	probably damaging	Het
Adam5	C	A	8: 25,305,496 (GRCm39)	V81F	probably benign	Het
Aoc1l1	A	G	6: 48,952,225 (GRCm39)	H50R	probably benign	Het
Bag2	A	G	1: 33,785,912 (GRCm39)	S137P	possibly damaging	Het
Birc6	A	T	17: 74,967,408 (GRCm39)	Q4103L	possibly damaging	Het
Camta2	A	G	11: 70,562,401 (GRCm39)	F999L	probably benign	Het
Cap2	A	T	13: 46,713,978 (GRCm39)		probably null	Het
Ccnk	T	A	12: 108,155,349 (GRCm39)	L102Q	probably null	Het
Cd52	T	C	4: 133,821,048 (GRCm39)		probably benign	Het
Cdc123	A	T	2: 5,815,617 (GRCm39)	I160K	probably benign	Het
Cep85l	T	C	10: 53,234,222 (GRCm39)	N52S	probably benign	Het
Cntnap5a	C	T	1: 116,029,440 (GRCm39)	T298I	probably benign	Het
Cpsf4	G	T	5: 145,115,572 (GRCm39)	S192I	probably benign	Het
Cpxm1	A	G	2: 130,239,330 (GRCm39)	S33P	probably benign	Het
Cyp2a12	A	T	7: 26,734,194 (GRCm39)	T376S	possibly damaging	Het
Cyp3a16	A	G	5: 145,392,894 (GRCm39)	F137S	probably damaging	Het
Des	A	G	1: 75,343,448 (GRCm39)	T444A	probably benign	Het
Dgcr8	C	T	16: 18,102,120 (GRCm39)	G54D	probably damaging	Het
Dmac2l	A	G	12: 69,787,828 (GRCm39)	Q88R	probably damaging	Het
Dsc3	A	G	18: 20,113,743 (GRCm39)	F393S	possibly damaging	Het
Dstyk	T	A	1: 132,391,113 (GRCm39)	M838K	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Eml5	A	C	12: 98,776,864 (GRCm39)	F1417C	probably damaging	Het
Ep400	A	T	5: 110,851,384 (GRCm39)	M1366K	unknown	Het
Epg5	G	T	18: 77,997,412 (GRCm39)	C425F	possibly damaging	Het
Epha3	C	G	16: 63,593,680 (GRCm39)	R136P	possibly damaging	Het
Extl1	C	A	4: 134,098,355 (GRCm39)	E225D	probably benign	Het
Fam186b	A	G	15: 99,178,538 (GRCm39)	Y263H	probably benign	Het
Fer1l6	T	A	15: 58,499,383 (GRCm39)	M1251K	probably benign	Het
Gart	A	T	16: 91,426,969 (GRCm39)	I555N	probably damaging	Het
Gm11596	A	T	11: 99,683,789 (GRCm39)	C110*	probably null	Het
Gnptab	C	T	10: 88,264,368 (GRCm39)	S262L	possibly damaging	Het
Gpr21	T	C	2: 37,408,243 (GRCm39)	V263A	probably benign	Het
Gxylt1	T	C	15: 93,152,361 (GRCm39)	I224V	probably benign	Het
H2-Aa	A	G	17: 34,502,801 (GRCm39)	S122P	probably damaging	Het
Hsph1	A	C	5: 149,553,802 (GRCm39)		probably null	Het
Hunk	G	A	16: 90,229,420 (GRCm39)	D94N	probably damaging	Het
Ikbke	C	A	1: 131,201,211 (GRCm39)	V176L	probably damaging	Het
Inpp5k	A	T	11: 75,538,017 (GRCm39)		probably null	Het
Ints10	A	G	8: 69,249,457 (GRCm39)	T96A	probably damaging	Het
Kansl2	A	T	15: 98,424,512 (GRCm39)	V306E	probably benign	Het
Kif20a	A	G	18: 34,758,657 (GRCm39)	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,305,861 (GRCm39)	M37L	probably benign	Het
Krtap1-5	T	C	11: 99,471,644 (GRCm39)	I50V	probably benign	Het
Ktn1	A	G	14: 47,952,109 (GRCm39)	E983G	probably damaging	Het
Lrrk1	G	A	7: 65,945,911 (GRCm39)	S566L	probably damaging	Het
M6pr	A	G	6: 122,292,326 (GRCm39)	M174V	probably benign	Het
Man2a2	A	G	7: 80,013,264 (GRCm39)	S510P	probably damaging	Het
Mmrn1	G	A	6: 60,922,059 (GRCm39)	S172N	possibly damaging	Het
Mpv17	A	G	5: 31,311,533 (GRCm39)		probably null	Het
Mrgpra9	T	C	7: 46,885,211 (GRCm39)	E152G	probably benign	Het
Mst1r	T	C	9: 107,790,367 (GRCm39)	V660A	probably benign	Het
Myof	A	G	19: 37,969,669 (GRCm39)		probably null	Het
Myrf	G	A	19: 10,206,038 (GRCm39)	P126L	probably benign	Het
Nckap1l	C	T	15: 103,384,103 (GRCm39)	A567V	probably damaging	Het
Nphs1	A	G	7: 30,160,395 (GRCm39)	E169G	probably benign	Het
Npy1r	T	A	8: 67,157,836 (GRCm39)	V382D	probably benign	Het
Nrl	A	T	14: 55,758,307 (GRCm39)	M140K	possibly damaging	Het
Odad2	C	T	18: 7,127,229 (GRCm39)	E995K	probably damaging	Het
Or14c39	T	A	7: 86,344,488 (GRCm39)	F275I	probably damaging	Het
Or2ag1b	A	T	7: 106,288,164 (GRCm39)	M258K	probably damaging	Het
Or4f56	A	G	2: 111,703,768 (GRCm39)	I144T	probably damaging	Het
Or5ac17	C	T	16: 59,036,389 (GRCm39)	V196M	probably benign	Het
Or8d2	C	T	9: 38,759,635 (GRCm39)	T75I	probably damaging	Het
Orc5	T	A	5: 22,752,925 (GRCm39)	L36F	possibly damaging	Het
Osbpl1a	A	T	18: 13,004,230 (GRCm39)	S396T	probably benign	Het
Pappa	T	A	4: 65,099,186 (GRCm39)	Y568*	probably null	Het
Pask	C	T	1: 93,249,019 (GRCm39)	A794T	probably benign	Het
Pclo	C	T	5: 14,908,766 (GRCm39)	L5025F	unknown	Het
Pde3a	T	C	6: 141,435,837 (GRCm39)	V924A	probably benign	Het
Pdpr	A	G	8: 111,844,668 (GRCm39)	N355S	probably damaging	Het
Pepd	A	T	7: 34,620,843 (GRCm39)	K36M	probably benign	Het
Pet100	T	G	8: 3,672,355 (GRCm39)	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,626,460 (GRCm39)	T438A	probably benign	Het
Pik3r6	T	A	11: 68,434,437 (GRCm39)	L546*	probably null	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Plxdc1	T	C	11: 97,824,838 (GRCm39)	Y339C	probably damaging	Het
Primpol	A	T	8: 47,039,378 (GRCm39)	M414K	probably damaging	Het
Prol1	A	T	5: 88,476,254 (GRCm39)	T215S	unknown	Het
Prss22	A	G	17: 24,213,656 (GRCm39)	Y212H	probably damaging	Het
Ralgapa2	C	A	2: 146,230,524 (GRCm39)	V1014L	probably damaging	Het
Rap1gap2	G	A	11: 74,316,802 (GRCm39)	T245M	probably damaging	Het
Rbm26	T	A	14: 105,352,638 (GRCm39)	R1009*	probably null	Het
Rbm42	A	G	7: 30,340,535 (GRCm39)	*450Q	probably null	Het
Rere	T	C	4: 150,701,388 (GRCm39)	V1256A	probably damaging	Het
Rmi1	G	T	13: 58,555,797 (GRCm39)	L15F	probably damaging	Het
Rnf213	T	C	11: 119,334,516 (GRCm39)	S3242P	probably damaging	Het
Rtel1	T	A	2: 180,965,499 (GRCm39)	V167E	probably damaging	Het
Scgb1b2	G	T	7: 30,991,188 (GRCm39)		probably benign	Het
Sin3b	T	C	8: 73,457,893 (GRCm39)	L203P	probably damaging	Het
Skint6	T	C	4: 113,093,457 (GRCm39)	S229G	possibly damaging	Het
Slco1a4	T	C	6: 141,755,104 (GRCm39)	Y566C	probably damaging	Het
Smgc	T	G	15: 91,728,624 (GRCm39)	D121E	possibly damaging	Het
Sned1	T	A	1: 93,199,406 (GRCm39)	F495L	probably damaging	Het
St7	A	T	6: 17,886,006 (GRCm39)	N52I	possibly damaging	Het
Sycn	C	A	7: 28,240,494 (GRCm39)	Q54K	probably benign	Het
Syngr4	A	G	7: 45,536,464 (GRCm39)	V186A	probably benign	Het
Tars3	G	A	7: 65,305,539 (GRCm39)	M254I	possibly damaging	Het
Tcaf2	A	T	6: 42,619,738 (GRCm39)	H96Q	probably benign	Het
Tcp11l2	T	C	10: 84,449,363 (GRCm39)	Y443H	probably damaging	Het
Tmem200c	A	T	17: 69,149,244 (GRCm39)	Q609L	possibly damaging	Het
Tmx3	G	A	18: 90,535,614 (GRCm39)	G83R	probably damaging	Het
Tpgs2	A	C	18: 25,301,598 (GRCm39)	V23G	possibly damaging	Het
Trhr	T	C	15: 44,060,579 (GRCm39)	V33A	probably benign	Het
Trim66	A	T	7: 109,074,320 (GRCm39)	I647N	probably damaging	Het
Trnt1	A	G	6: 106,755,000 (GRCm39)	K244E	probably damaging	Het
Tsfm	G	A	10: 126,864,314 (GRCm39)	Q134*	probably null	Het
Ttll9	A	G	2: 152,844,927 (GRCm39)	T432A	probably benign	Het
Vmn2r78	C	T	7: 86,603,690 (GRCm39)	L623F	probably damaging	Het
Wdr55	A	G	18: 36,895,419 (GRCm39)	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,787,040 (GRCm39)	R356S	possibly damaging	Het
Wnk1	A	G	6: 119,925,949 (GRCm39)		probably benign	Het
Zfp260	A	G	7: 29,804,765 (GRCm39)	K222E	probably damaging	Het
Zfp300	A	G	X: 20,948,190 (GRCm39)	S525P	possibly damaging	Het
Zfp592	A	G	7: 80,687,950 (GRCm39)	T959A	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
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'- GCATGGAGTACATACCCACTATGAC -3'
(R):5'- TTGTGTCACTCAGGAAAGCTGG -3'

Sequencing Primer
(F):5'- AGTGTATCACTGGCAAAGCCTCTC -3'
(R):5'- TCACTCAGGAAAGCTGGCTGAG -3'

Posted On

2014-10-01