Mutagenetix > Incidental Mutation

Incidental Mutation 'R9659:Fbn2'

727479

Institutional Source

Beutler Lab

Gene Symbol

Fbn2

Ensembl Gene

ENSMUSG00000024598

Gene Name

fibrillin 2

Synonyms

sy, Sne, Fib-2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R9659 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58141689-58343200 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 58342654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 75 (R75P)

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: R75P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025497
Gene: ENSMUSG00000024598
AA Change: R75P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	T	C	5: 130,407,876 (GRCm39)	I112V	unknown	Het
Adcy7	A	G	8: 89,045,733 (GRCm39)	T572A	probably benign	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
C2cd2	A	G	16: 97,723,473 (GRCm39)	S15P	possibly damaging	Het
Cabp1	T	C	5: 115,311,187 (GRCm39)	D289G	possibly damaging	Het
Ccdc14	A	G	16: 34,541,913 (GRCm39)	I545V	probably damaging	Het
Cep295	C	A	9: 15,233,846 (GRCm39)	A2317S	probably benign	Het
Cerkl	T	C	2: 79,223,322 (GRCm39)	D133G	possibly damaging	Het
Cited4	T	G	4: 120,524,543 (GRCm39)	C182G	probably damaging	Het
Col6a5	T	A	9: 105,811,034 (GRCm39)	K828N	unknown	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Ect2l	C	T	10: 18,041,347 (GRCm39)	C369Y	possibly damaging	Het
Elapor1	G	A	3: 108,377,297 (GRCm39)	T387I	possibly damaging	Het
Ep300	A	G	15: 81,505,273 (GRCm39)	Y631C	unknown	Het
Ephb4	T	G	5: 137,363,743 (GRCm39)	Y583D	probably damaging	Het
Gabra2	T	C	5: 71,192,140 (GRCm39)	D63G	probably benign	Het
Gfra1	A	G	19: 58,441,652 (GRCm39)	M93T	probably damaging	Het
Gm21886	AGAGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGCAGACAGCAGGTGCTCACTGAGGCCTG	AGAGGCCTG	18: 80,132,776 (GRCm39)		probably benign	Het
Gm3604	A	T	13: 62,519,724 (GRCm39)	H10Q	possibly damaging	Het
Helz2	T	C	2: 180,882,025 (GRCm39)	D256G	probably benign	Het
Herc1	A	C	9: 66,307,185 (GRCm39)	I1002L	probably benign	Het
Hpgd	C	G	8: 56,772,075 (GRCm39)	C182W	probably damaging	Het
Htr5b	A	G	1: 121,455,428 (GRCm39)	L164P	possibly damaging	Het
Kmo	T	C	1: 175,486,085 (GRCm39)	F403L	probably damaging	Het
Ly75	C	A	2: 60,168,665 (GRCm39)	D748Y	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mipep	A	G	14: 61,083,893 (GRCm39)	T595A	probably damaging	Het
Muc6	T	C	7: 141,232,100 (GRCm39)	D968G	probably damaging	Het
Myo18b	T	C	5: 113,022,382 (GRCm39)	T337A	unknown	Het
Nlrp1b	T	A	11: 71,073,132 (GRCm39)	Q237L	possibly damaging	Het
Nr1h4	A	G	10: 89,314,638 (GRCm39)		probably null	Het
Nxph1	A	G	6: 9,247,418 (GRCm39)	T130A	probably damaging	Het
Or10al6	T	G	17: 38,082,880 (GRCm39)	F112C	probably damaging	Het
Or1l4	T	A	2: 37,091,897 (GRCm39)	C215S	possibly damaging	Het
Or4m1	A	G	14: 50,558,181 (GRCm39)	F37S	probably benign	Het
Or5p4	T	C	7: 107,680,745 (GRCm39)	V248A	probably damaging	Het
Or8g21	A	G	9: 38,906,296 (GRCm39)	V145A	possibly damaging	Het
Pcsk5	A	G	19: 17,455,245 (GRCm39)	Y1062H	probably benign	Het
Plch1	T	C	3: 63,681,136 (GRCm39)	I164V	probably benign	Het
Plekhh2	T	A	17: 84,854,892 (GRCm39)	M42K	possibly damaging	Het
Polr2a	T	C	11: 69,625,654 (GRCm39)	Y1832C	unknown	Het
Prpf4	G	A	4: 62,334,296 (GRCm39)		probably null	Het
Psg16	T	C	7: 16,824,524 (GRCm39)	S12P	possibly damaging	Het
Ptpn14	T	A	1: 189,587,174 (GRCm39)	M528K	probably benign	Het
Rb1cc1	T	A	1: 6,318,673 (GRCm39)	H697Q	probably benign	Het
Reg3a	T	G	6: 78,360,574 (GRCm39)	C171G	possibly damaging	Het
Slc22a26	G	A	19: 7,763,798 (GRCm39)	P412S	probably benign	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Tcstv2a	T	A	13: 120,725,754 (GRCm39)	D139E	probably damaging	Het
Tlk2	T	C	11: 105,131,263 (GRCm39)	I203T	probably benign	Het
Tmem120b	T	G	5: 123,253,788 (GRCm39)	H279Q	probably damaging	Het
Trip4	T	C	9: 65,740,702 (GRCm39)	E535G	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ubr5	A	T	15: 37,984,254 (GRCm39)	L2298I		Het
Utp20	A	G	10: 88,653,171 (GRCm39)	L303P	probably damaging	Het
Vcan	A	G	13: 89,839,860 (GRCm39)	Y1895H	probably damaging	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Wdr20rt	A	T	12: 65,273,343 (GRCm39)	S269C	probably damaging	Het
Zfand4	T	G	6: 116,282,588 (GRCm39)	Y54D	probably damaging	Het
Zfp82	C	T	7: 29,755,963 (GRCm39)	R373H	probably damaging	Het
Zmiz2	A	G	11: 6,346,814 (GRCm39)	E141G	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
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
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'- TAAAACGAGGGGCACTCCTG -3'
(R):5'- ATTTGGTCTCCGACAGTGC -3'

Sequencing Primer
(F):5'- ACTCCTGGAGCTCTTGGG -3'
(R):5'- AGCCCTACTTCGTGTGGCTG -3'

Posted On

2022-10-06