Mutagenetix > Incidental Mutations

Incidental Mutation 'R1639:Fbn2'

173412

Institutional Source

Beutler Lab

Gene Symbol

Fbn2

Ensembl Gene

ENSMUSG00000024598

Gene Name

fibrillin 2

Synonyms

Fib-2, sy, Sne

MMRRC Submission

039675-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R1639 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

58008623-58209926 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58058462 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 1530 (A1530S)

Ref Sequence

ENSEMBL: ENSMUSP00000025497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025497]

Predicted Effect

probably benign
Transcript: ENSMUST00000025497
AA Change: A1530S

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025497
Gene: ENSMUSG00000024598
AA Change: A1530S

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

Meta Mutation Damage Score

0.0803

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

96% (66/69)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933417A18Rik	T	C	13: 34,944,250	I150T	possibly damaging	Het
Acss2	C	A	2: 155,556,908	T425N	probably benign	Het
Adam18	T	A	8: 24,652,152	I203L	probably benign	Het
Amigo2	A	G	15: 97,245,998	M181T	probably benign	Het
Anks1	T	A	17: 28,058,306	I1045N	probably damaging	Het
Ap3d1	C	T	10: 80,730,010	V108I	probably damaging	Het
Arl8a	C	T	1: 135,152,823	R57*	probably null	Het
Atp12a	A	T	14: 56,384,068	D720V	possibly damaging	Het
Brpf3	T	C	17: 28,824,068		probably null	Het
C2	T	C	17: 34,872,403	K95E	probably benign	Het
Cdk19	T	C	10: 40,476,969		probably null	Het
Cebpz	T	A	17: 78,934,606	I540L	possibly damaging	Het
Cep128	A	G	12: 91,366,368	V41A	probably damaging	Het
Cog7	T	C	7: 121,981,419	E56G	probably damaging	Het
Cylc2	T	C	4: 51,228,310	V127A	probably benign	Het
Cyp2b23	A	G	7: 26,686,417	V5A	possibly damaging	Het
Cyp8b1	A	G	9: 121,914,890	Y459H	probably benign	Het
Dbpht2	A	G	12: 74,299,158		noncoding transcript	Het
Ddx24	T	C	12: 103,411,319		probably null	Het
Dgki	C	T	6: 36,937,364	C757Y	probably damaging	Het
Eef2k	T	A	7: 120,885,828	L306H	probably damaging	Het
Ephb2	T	C	4: 136,693,905	N378S	probably benign	Het
Espl1	C	T	15: 102,320,714	T1767I	probably damaging	Het
Fndc11	A	G	2: 181,221,581	S60G	possibly damaging	Het
Glb1l	G	T	1: 75,199,601	Q612K	probably benign	Het
Gpsm1	A	G	2: 26,345,187	E371G	probably damaging	Het
Gtpbp2	G	A	17: 46,165,771		probably null	Het
Itch	A	G	2: 155,179,025		probably null	Het
Itga2	T	C	13: 114,857,296	T774A	probably benign	Het
Kit	A	G	5: 75,652,807	I881V	probably damaging	Het
Lpar5	T	C	6: 125,081,601	L95P	probably damaging	Het
Lrp6	T	C	6: 134,453,566	T1511A	possibly damaging	Het
Mgat4c	T	C	10: 102,378,281	Y42H	probably damaging	Het
Mpp3	G	T	11: 102,023,442	T109K	probably damaging	Het
Msantd4	A	G	9: 4,385,199	E308G	probably damaging	Het
Mug1	T	C	6: 121,880,571	S1085P	probably damaging	Het
Myo5b	A	G	18: 74,707,916	H956R	probably benign	Het
Ncoa7	A	C	10: 30,701,992	L132R	probably damaging	Het
Ndufc1	T	C	3: 51,408,243	T25A	probably benign	Het
Olfr1254	T	C	2: 89,789,245	T36A	probably damaging	Het
Pkhd1l1	G	A	15: 44,540,955	V2327M	probably damaging	Het
Ppp1r9b	T	C	11: 94,996,610	Y59H	probably damaging	Het
Sema4c	A	T	1: 36,553,534	F152I	probably benign	Het
Slit2	A	T	5: 48,259,654	Y1016F	probably damaging	Het
Spata31d1c	T	A	13: 65,036,039	V465D	probably benign	Het
Ssc5d	T	C	7: 4,928,417	C208R	probably damaging	Het
Stambpl1	T	G	19: 34,236,307	V312G	probably benign	Het
Stim1	T	A	7: 102,354,541	D60E	probably benign	Het
Syt13	T	A	2: 92,945,971	V201D	probably benign	Het
Tcaim	G	A	9: 122,818,773		probably null	Het
Tex15	T	C	8: 33,570,817	S366P	possibly damaging	Het
Tpte	G	A	8: 22,320,897	R190H	probably benign	Het
Vmn1r4	T	C	6: 56,957,075	V188A	probably damaging	Het
Vmn2r88	A	G	14: 51,416,787	D542G	probably damaging	Het
Vps33b	T	A	7: 80,284,353	I257N	probably damaging	Het
Wwox	G	T	8: 114,445,378	G71*	probably null	Het
Zc3h11a	G	T	1: 133,624,708	Q554K	probably benign	Het
Zfp947	T	C	17: 22,146,093	K200R	probably benign	Het
Zscan12	T	A	13: 21,368,986	C327S	probably damaging	Het

Other mutations in Fbn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Fbn2	APN	18	58037809	missense	possibly damaging	0.81
IGL00780:Fbn2	APN	18	58095988	missense	probably damaging	1.00
IGL00923:Fbn2	APN	18	58012325	missense	probably benign	0.00
IGL01011:Fbn2	APN	18	58095240	splice site	probably benign
IGL01123:Fbn2	APN	18	58104081	missense	possibly damaging	0.62
IGL01304:Fbn2	APN	18	58061745	missense	probably damaging	0.97
IGL01339:Fbn2	APN	18	58113370	missense	possibly damaging	0.75
IGL01465:Fbn2	APN	18	58203833	missense	probably null	0.67
IGL01608:Fbn2	APN	18	58053704	nonsense	probably null
IGL01682:Fbn2	APN	18	58072671	missense	probably damaging	1.00
IGL01752:Fbn2	APN	18	58075977	splice site	probably null
IGL01764:Fbn2	APN	18	58045351	missense	probably damaging	1.00
IGL02002:Fbn2	APN	18	58114553	missense	probably benign	0.01
IGL02010:Fbn2	APN	18	58037722	missense	probably damaging	0.99
IGL02029:Fbn2	APN	18	58209603	missense	probably benign	0.04
IGL02037:Fbn2	APN	18	58096015	missense	probably damaging	1.00
IGL02350:Fbn2	APN	18	58103995	missense	possibly damaging	0.71
IGL02357:Fbn2	APN	18	58103995	missense	possibly damaging	0.71
IGL02653:Fbn2	APN	18	58076705	missense	probably benign
IGL03233:Fbn2	APN	18	58102377	missense	probably benign	0.39
IGL03347:Fbn2	APN	18	58013665	missense	probably damaging	1.00
IGL03410:Fbn2	APN	18	58050243	missense	possibly damaging	0.95
pinch	UTSW	18	58069184	missense	probably damaging	1.00
stick	UTSW	18	58071819	missense	possibly damaging	0.94
tweak	UTSW	18	58058389	missense	probably damaging	1.00
BB009:Fbn2	UTSW	18	58020483	missense	possibly damaging	0.61
BB019:Fbn2	UTSW	18	58020483	missense	possibly damaging	0.61
PIT4434001:Fbn2	UTSW	18	58096062	missense	probably damaging	0.99
R0020:Fbn2	UTSW	18	58105164	missense	probably damaging	1.00
R0069:Fbn2	UTSW	18	58069184	missense	probably damaging	1.00
R0107:Fbn2	UTSW	18	58056203	missense	probably benign	0.00
R0116:Fbn2	UTSW	18	58102373	nonsense	probably null
R0277:Fbn2	UTSW	18	58045317	missense	probably damaging	1.00
R0284:Fbn2	UTSW	18	58050290	splice site	probably benign
R0316:Fbn2	UTSW	18	58113325	missense	probably damaging	1.00
R0323:Fbn2	UTSW	18	58045317	missense	probably damaging	1.00
R0421:Fbn2	UTSW	18	58027804	splice site	probably benign
R0455:Fbn2	UTSW	18	58035336	missense	probably damaging	1.00
R0504:Fbn2	UTSW	18	58039460	missense	possibly damaging	0.94
R0520:Fbn2	UTSW	18	58013749	missense	probably damaging	1.00
R0632:Fbn2	UTSW	18	58037747	missense	probably damaging	1.00
R0638:Fbn2	UTSW	18	58045374	missense	probably damaging	0.98
R0645:Fbn2	UTSW	18	58058389	missense	probably damaging	1.00
R1051:Fbn2	UTSW	18	58012353	missense	probably damaging	0.99
R1209:Fbn2	UTSW	18	58070016	missense	probably benign	0.00
R1319:Fbn2	UTSW	18	58200610	missense	possibly damaging	0.88
R1400:Fbn2	UTSW	18	58080193	missense	possibly damaging	0.90
R1437:Fbn2	UTSW	18	58053659	missense	possibly damaging	0.68
R1463:Fbn2	UTSW	18	58010380	missense	probably benign
R1612:Fbn2	UTSW	18	58061752	missense	probably damaging	1.00
R1623:Fbn2	UTSW	18	58048548	missense	possibly damaging	0.61
R1629:Fbn2	UTSW	18	58026538	missense	probably damaging	1.00
R1722:Fbn2	UTSW	18	58048052	critical splice acceptor site	probably null
R1749:Fbn2	UTSW	18	58050276	missense	probably benign	0.35
R1802:Fbn2	UTSW	18	58052976	nonsense	probably null
R1850:Fbn2	UTSW	18	58039305	splice site	probably benign
R1913:Fbn2	UTSW	18	58061742	missense	probably damaging	1.00
R2045:Fbn2	UTSW	18	58090658	missense	probably damaging	1.00
R2064:Fbn2	UTSW	18	58048849	missense	probably damaging	0.99
R2143:Fbn2	UTSW	18	58052993	missense	possibly damaging	0.65
R2144:Fbn2	UTSW	18	58052993	missense	possibly damaging	0.65
R2149:Fbn2	UTSW	18	58102325	splice site	probably null
R2207:Fbn2	UTSW	18	58081399	nonsense	probably null
R2219:Fbn2	UTSW	18	58052963	missense	possibly damaging	0.79
R2263:Fbn2	UTSW	18	58095176	splice site	probably benign
R2375:Fbn2	UTSW	18	58035966	missense	probably damaging	1.00
R2424:Fbn2	UTSW	18	58203787	missense	probably damaging	0.99
R2504:Fbn2	UTSW	18	58093359	missense	probably damaging	0.99
R2879:Fbn2	UTSW	18	58069242	missense	probably damaging	0.97
R3040:Fbn2	UTSW	18	58093387	missense	probably damaging	1.00
R3080:Fbn2	UTSW	18	58149050	missense	probably damaging	0.97
R3625:Fbn2	UTSW	18	58061742	missense	probably damaging	1.00
R3901:Fbn2	UTSW	18	58066011	missense	probably damaging	0.97
R4089:Fbn2	UTSW	18	58053769	missense	probably benign	0.01
R4133:Fbn2	UTSW	18	58095962	missense	possibly damaging	0.82
R4155:Fbn2	UTSW	18	58023287	nonsense	probably null
R4288:Fbn2	UTSW	18	58035339	missense	probably damaging	0.98
R4289:Fbn2	UTSW	18	58035339	missense	probably damaging	0.98
R4363:Fbn2	UTSW	18	58149050	missense	probably damaging	0.97
R4559:Fbn2	UTSW	18	58076074	missense	probably benign	0.00
R4601:Fbn2	UTSW	18	58053733	missense	probably damaging	1.00
R4609:Fbn2	UTSW	18	58190269	nonsense	probably null
R4626:Fbn2	UTSW	18	58013747	nonsense	probably null
R4638:Fbn2	UTSW	18	58010304	missense	probably benign	0.01
R4675:Fbn2	UTSW	18	58040193	missense	possibly damaging	0.95
R4707:Fbn2	UTSW	18	58056272	missense	probably damaging	1.00
R4758:Fbn2	UTSW	18	58026386	missense	probably benign	0.00
R4945:Fbn2	UTSW	18	58050253	missense	possibly damaging	0.53
R4955:Fbn2	UTSW	18	58058383	missense	possibly damaging	0.61
R4980:Fbn2	UTSW	18	58010631	missense	probably benign	0.05
R4998:Fbn2	UTSW	18	58072631	missense	probably damaging	1.00
R5133:Fbn2	UTSW	18	58039340	missense	probably damaging	0.99
R5322:Fbn2	UTSW	18	58039315	missense	probably benign	0.00
R5414:Fbn2	UTSW	18	58093405	missense	probably damaging	0.96
R5538:Fbn2	UTSW	18	58071901	missense	probably benign	0.22
R5557:Fbn2	UTSW	18	58115659	missense	probably benign	0.00
R5754:Fbn2	UTSW	18	58124311	missense	probably benign	0.04
R5769:Fbn2	UTSW	18	58105199	missense	probably damaging	1.00
R5790:Fbn2	UTSW	18	58076696	missense	probably benign	0.34
R5830:Fbn2	UTSW	18	58114469	missense	probably benign	0.01
R5845:Fbn2	UTSW	18	58053768	missense	possibly damaging	0.89
R5880:Fbn2	UTSW	18	58023282	nonsense	probably null
R5907:Fbn2	UTSW	18	58045337	missense	probably damaging	1.00
R5948:Fbn2	UTSW	18	58037049	missense	probably damaging	1.00
R5955:Fbn2	UTSW	18	58044256	missense	probably damaging	1.00
R5974:Fbn2	UTSW	18	58048920	missense	probably damaging	1.00
R6010:Fbn2	UTSW	18	58069524	missense	probably benign	0.31
R6024:Fbn2	UTSW	18	58076836	missense	probably benign	0.03
R6037:Fbn2	UTSW	18	58044223	missense	probably benign	0.05
R6037:Fbn2	UTSW	18	58044223	missense	probably benign	0.05
R6315:Fbn2	UTSW	18	58054953	critical splice acceptor site	probably null
R6437:Fbn2	UTSW	18	58113363	missense	probably damaging	1.00
R6519:Fbn2	UTSW	18	58063575	missense	possibly damaging	0.61
R6520:Fbn2	UTSW	18	58102390	missense	probably damaging	1.00
R6734:Fbn2	UTSW	18	58035960	missense	probably damaging	1.00
R6755:Fbn2	UTSW	18	58113333	missense	possibly damaging	0.89
R6789:Fbn2	UTSW	18	58010614	missense	probably benign	0.00
R6801:Fbn2	UTSW	18	58113348	missense	probably benign	0.04
R6862:Fbn2	UTSW	18	58124321	missense	probably benign	0.04
R6900:Fbn2	UTSW	18	58076831	missense	probably benign
R6906:Fbn2	UTSW	18	58071819	missense	possibly damaging	0.94
R6919:Fbn2	UTSW	18	58124187	splice site	probably null
R6950:Fbn2	UTSW	18	58035921	missense	probably null	0.21
R6985:Fbn2	UTSW	18	58068388	missense	probably damaging	1.00
R7056:Fbn2	UTSW	18	58076726	missense	probably benign
R7199:Fbn2	UTSW	18	58053761	nonsense	probably null
R7219:Fbn2	UTSW	18	58053027	missense	probably benign	0.04
R7226:Fbn2	UTSW	18	58037070	missense	probably damaging	1.00
R7260:Fbn2	UTSW	18	58066116	missense	probably benign	0.14
R7414:Fbn2	UTSW	18	58096050	missense	probably damaging	1.00
R7485:Fbn2	UTSW	18	58071840	missense	possibly damaging	0.50
R7523:Fbn2	UTSW	18	58066080	missense	probably benign	0.01
R7549:Fbn2	UTSW	18	58020464	nonsense	probably null
R7619:Fbn2	UTSW	18	58080227	missense	possibly damaging	0.46
R7638:Fbn2	UTSW	18	58105136	missense	probably damaging	1.00
R7789:Fbn2	UTSW	18	58039313	missense	probably benign	0.22
R7932:Fbn2	UTSW	18	58020483	missense	possibly damaging	0.61
R8013:Fbn2	UTSW	18	58104081	missense	possibly damaging	0.62
R8076:Fbn2	UTSW	18	58026424	nonsense	probably null
R8300:Fbn2	UTSW	18	58209615	missense	probably benign
R8345:Fbn2	UTSW	18	58058431	missense	probably damaging	1.00
R8487:Fbn2	UTSW	18	58020390	missense	possibly damaging	0.53
R8520:Fbn2	UTSW	18	58038198	critical splice donor site	probably null
X0062:Fbn2	UTSW	18	58056213	missense	probably damaging	1.00
Z1177:Fbn2	UTSW	18	58010379	missense	probably benign	0.00
Z1177:Fbn2	UTSW	18	58055482	missense	probably benign	0.00
Z1177:Fbn2	UTSW	18	58069190	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTCGGCATATGAAGCCAGACAAATT -3'
(R):5'- GACAGAGATGCACCAAGCATCCATT -3'

Sequencing Primer
(F):5'- GTTCTTCAGAAGTTAAGGCCATTG -3'
(R):5'- agaTGCACCAAGCATCCATTAAATC -3'

Posted On

2014-04-24