Mutagenetix > Incidental Mutation

Incidental Mutation 'R6437:Fbn2'

518843

Institutional Source

Beutler Lab

Gene Symbol

Fbn2

Ensembl Gene

ENSMUSG00000024598

Gene Name

fibrillin 2

Synonyms

Fib-2, sy, Sne

MMRRC Submission

044575-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R6437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58008623-58209926 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 58113363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 489 (D489A)

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: D489A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025497
Gene: ENSMUSG00000024598
AA Change: D489A

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: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	C	T	4: 156,176,778 (GRCm38)	V514I	probably damaging	Het
Atg16l1	T	C	1: 87,790,648 (GRCm38)	L545P	probably damaging	Het
Ces3b	T	A	8: 105,092,606 (GRCm38)	D431E	probably damaging	Het
Cracr2a	A	G	6: 127,631,831 (GRCm38)	D291G	probably damaging	Het
Csmd2	T	G	4: 127,988,100 (GRCm38)	C11G	probably benign	Het
Dido1	A	G	2: 180,675,013 (GRCm38)	I127T	probably damaging	Het
Dpp8	A	T	9: 65,074,578 (GRCm38)	Y714F	probably benign	Het
Efcab5	G	A	11: 77,137,902 (GRCm38)	A201V	probably benign	Het
Eif3h	C	T	15: 51,799,264 (GRCm38)	V129I	probably benign	Het
Eml2	G	A	7: 19,201,163 (GRCm38)	V432I	probably damaging	Het
Fars2	G	A	13: 36,204,863 (GRCm38)	V112I	probably benign	Het
Frmd4b	G	T	6: 97,296,267 (GRCm38)	S675R	probably damaging	Het
Fsip2	C	T	2: 82,983,492 (GRCm38)	S3385F	possibly damaging	Het
Gm4758	A	G	16: 36,312,637 (GRCm38)	E92G	probably damaging	Het
Gtpbp10	A	G	5: 5,557,406 (GRCm38)	Y12H	probably damaging	Het
Kcng3	A	G	17: 83,631,129 (GRCm38)	S164P	probably damaging	Het
Kifap3	T	A	1: 163,857,526 (GRCm38)	L483Q	probably damaging	Het
Klk10	A	G	7: 43,782,817 (GRCm38)	H58R	probably benign	Het
Kntc1	T	G	5: 123,769,691 (GRCm38)	W452G	probably damaging	Het
Krt87	C	T	15: 101,438,392 (GRCm38)	D127N	possibly damaging	Het
Lipm	A	G	19: 34,121,257 (GRCm38)	Y377C	probably damaging	Het
Mrc2	G	A	11: 105,349,843 (GRCm38)	R1453H	probably damaging	Het
Nat1	T	C	8: 67,491,736 (GRCm38)	F255L	possibly damaging	Het
Neb	C	T	2: 52,257,557 (GRCm38)		probably null	Het
Nek5	T	A	8: 22,085,460 (GRCm38)	D491V	possibly damaging	Het
Nynrin	T	C	14: 55,871,770 (GRCm38)	S1445P	probably benign	Het
Olfr531	C	T	7: 140,400,521 (GRCm38)	C175Y	probably damaging	Het
Oog2	T	A	4: 144,195,108 (GRCm38)		probably null	Het
Pafah1b1	T	C	11: 74,677,731 (GRCm38)	T391A	probably benign	Het
Pcdhb7	T	C	18: 37,342,690 (GRCm38)	L293P	probably damaging	Het
Plce1	A	T	19: 38,525,132 (GRCm38)	T292S	probably benign	Het
Pold1	G	A	7: 44,538,778 (GRCm38)	R559C	probably damaging	Het
Rfx7	A	G	9: 72,618,486 (GRCm38)	Q986R	possibly damaging	Het
Rrp9	G	T	9: 106,482,951 (GRCm38)	R186L	probably benign	Het
Samm50	T	A	15: 84,204,097 (GRCm38)		probably null	Het
Scoc	T	C	8: 83,437,987 (GRCm38)	D7G	probably benign	Het
Smad9	C	T	3: 54,786,084 (GRCm38)	P145S	probably benign	Het
Smc1b	C	T	15: 85,092,031 (GRCm38)	R825Q	probably benign	Het
Snrk	A	G	9: 122,166,813 (GRCm38)	R553G	probably damaging	Het
Spata5	T	A	3: 37,528,198 (GRCm38)	V794E	probably damaging	Het
Srcap	T	A	7: 127,528,550 (GRCm38)		probably null	Het
Syne2	T	A	12: 75,990,414 (GRCm38)	V3789E	possibly damaging	Het
Thsd7b	T	C	1: 129,816,682 (GRCm38)	I769T	probably damaging	Het
Tmem159	A	T	7: 120,116,361 (GRCm38)		probably null	Het
Ttc7	A	G	17: 87,330,106 (GRCm38)	K430E	probably damaging	Het
Ubr4	T	A	4: 139,397,214 (GRCm38)		probably null	Het
Vmn2r106	C	T	17: 20,268,463 (GRCm38)	C558Y	probably damaging	Het
Vmn2r37	G	T	7: 9,217,851 (GRCm38)	Q338K	probably damaging	Het
Yod1	T	C	1: 130,719,148 (GRCm38)	V254A	probably damaging	Het
Zfpm2	T	C	15: 41,099,397 (GRCm38)	S152P	probably benign	Het
Zmym2	T	A	14: 56,903,004 (GRCm38)	L100H	probably 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
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
R9403:Fbn2	UTSW	18	58,066,107 (GRCm38)	missense	probably damaging	1.00
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'- GGGCTCCCAGCTAACTAAAGAAAG -3'
(R):5'- TGAGGCTCACAAAGAATGACTAC -3'

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

Posted On

2018-05-24