Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Fbn2'

711369

Institutional Source

Beutler Lab

Gene Symbol

Fbn2

Ensembl Gene

ENSMUSG00000024598

Gene Name

fibrillin 2

Synonyms

Fib-2, sy, Sne

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R9403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58008623-58209926 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58066107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1363 (E1363G)

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: E1363G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025497
Gene: ENSMUSG00000024598
AA Change: E1363G

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: 99.0%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,299 (GRCm38)	T255P	probably benign	Het
4930444G20Rik	C	T	10: 22,067,941 (GRCm38)	D47N	possibly damaging	Het
Angpt4	C	T	2: 151,938,972 (GRCm38)	T380M	probably damaging	Het
Apoa5	G	C	9: 46,270,646 (GRCm38)	R340P	probably damaging	Het
Cyp3a41a	T	A	5: 145,702,198 (GRCm38)	Y320F	probably damaging	Het
Dmtf1	A	G	5: 9,121,927 (GRCm38)	L503S	possibly damaging	Het
Dock1	T	C	7: 135,168,396 (GRCm38)	V1795A	probably benign	Het
Dpys	C	G	15: 39,828,071 (GRCm38)	W285S	probably damaging	Het
Fam187b	T	C	7: 30,977,090 (GRCm38)	V8A		Het
Glg1	C	T	8: 111,187,793 (GRCm38)	R453Q	probably benign	Het
Gm5591	T	A	7: 38,520,148 (GRCm38)	M434L	probably benign	Het
Gm5591	T	C	7: 38,522,256 (GRCm38)	T130A	probably damaging	Het
Gpld1	G	A	13: 24,979,729 (GRCm38)	V502I	probably benign	Het
Inhba	A	G	13: 16,017,381 (GRCm38)	H29R	probably benign	Het
Itga4	T	A	2: 79,325,660 (GRCm38)	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,543,077 (GRCm38)	I280L	probably benign	Het
Malrd1	T	C	2: 15,614,177 (GRCm38)	V284A		Het
Maml2	C	T	9: 13,621,673 (GRCm38)	Q728*	probably null	Het
Mkln1	T	C	6: 31,432,970 (GRCm38)	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204 (GRCm38)		probably null	Het
Muc16	A	G	9: 18,537,764 (GRCm38)		probably null	Het
Mylk	C	A	16: 34,875,642 (GRCm38)	S249*	probably null	Het
Naa35	G	A	13: 59,601,003 (GRCm38)	A150T	possibly damaging	Het
Naip5	T	A	13: 100,219,830 (GRCm38)	E1092D	probably benign	Het
Nup205	G	A	6: 35,199,974 (GRCm38)	R635H	probably benign	Het
Olfr263	T	C	13: 21,133,695 (GRCm38)	F307L	probably benign	Het
Olfr723	T	C	14: 49,929,449 (GRCm38)	T32A	probably benign	Het
Padi3	T	C	4: 140,810,532 (GRCm38)	I26V	probably benign	Het
Polq	T	C	16: 37,061,853 (GRCm38)	S1460P	probably benign	Het
Ptgdr	A	G	14: 44,853,258 (GRCm38)	S348P		Het
Qsox1	A	G	1: 155,782,597 (GRCm38)	S409P	probably damaging	Het
Rergl	T	A	6: 139,494,854 (GRCm38)	Y99F	possibly damaging	Het
Rptn	C	A	3: 93,395,042 (GRCm38)	H22N	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570 (GRCm38)		probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,467,573 (GRCm38)		probably null	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,467,575 (GRCm38)		probably benign	Het
Slc2a3	A	C	6: 122,736,610 (GRCm38)	I214M	probably damaging	Het
Slc5a7	A	T	17: 54,276,641 (GRCm38)	N540K	probably benign	Het
Slco6c1	A	T	1: 97,062,523 (GRCm38)	S664R	possibly damaging	Het
Tgm4	C	A	9: 123,052,772 (GRCm38)	S344R	probably damaging	Het
Trim61	T	A	8: 65,014,576 (GRCm38)	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,832,652 (GRCm38)	D1137E	possibly damaging	Het
Txndc2	G	A	17: 65,637,997 (GRCm38)	T395I	probably damaging	Het
Txndc9	T	C	1: 37,995,778 (GRCm38)	E15G	probably benign	Het
Vcpip1	A	G	1: 9,745,824 (GRCm38)	I778T	possibly damaging	Het
Zfp383	T	C	7: 29,915,259 (GRCm38)	F313S	possibly 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
R2045:Fbn2	UTSW	18	58,090,658 (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
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'- GAACGGTCAGTAACGACACTG -3'
(R):5'- ACGAAGGGCTTGTTTGGTCAC -3'

Sequencing Primer
(F):5'- TCAGTAACGACACTGGGCCTTC -3'
(R):5'- GGTCACGATCATGAAGTTATAGATC -3'

Posted On

2022-05-16