Mutagenetix > Incidental Mutations

Incidental Mutation 'R4627:Fbln2'

348863

Institutional Source

Beutler Lab

Gene Symbol

Fbln2

Ensembl Gene

ENSMUSG00000064080

Gene Name

fibulin 2

Synonyms

5730577E14Rik

MMRRC Submission

041892-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4627 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

91212455-91272540 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 91259767 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 755 (V755L)

Ref Sequence

ENSEMBL: ENSMUSP00000048334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041544] [ENSMUST00000113498]

Predicted Effect

probably damaging
Transcript: ENSMUST00000041544
AA Change: V755L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: V755L

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:VWC	72	138	8e-35	BLAST
low complexity region	201	215	N/A	INTRINSIC
low complexity region	217	233	N/A	INTRINSIC
low complexity region	242	262	N/A	INTRINSIC
low complexity region	267	289	N/A	INTRINSIC
low complexity region	313	320	N/A	INTRINSIC
ANATO	435	470	1.54e-11	SMART
ANATO	478	509	4.67e-2	SMART
ANATO	511	543	2.78e-9	SMART
low complexity region	546	569	N/A	INTRINSIC
EGF_CA	594	635	3.1e-11	SMART
EGF	672	708	1.88e-1	SMART
EGF	712	755	1.33e1	SMART
EGF_CA	756	800	1.34e-6	SMART
EGF_CA	801	846	1.65e-6	SMART
EGF_CA	847	894	2.06e-7	SMART
EGF_CA	895	937	3.56e-11	SMART
EGF_CA	938	979	3.48e-14	SMART
EGF_CA	980	1018	1.7e-8	SMART
EGF_CA	1019	1061	8.18e-11	SMART
EGF_CA	1062	1106	5.08e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113498

SMART Domains

Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:VWC	72	138	8e-35	BLAST
low complexity region	201	215	N/A	INTRINSIC
low complexity region	217	233	N/A	INTRINSIC
low complexity region	242	262	N/A	INTRINSIC
low complexity region	267	289	N/A	INTRINSIC
low complexity region	313	320	N/A	INTRINSIC
ANATO	435	470	1.54e-11	SMART
ANATO	478	509	4.67e-2	SMART
ANATO	511	543	2.78e-9	SMART
low complexity region	546	569	N/A	INTRINSIC
EGF_CA	594	635	3.1e-11	SMART
EGF	672	708	1.88e-1	SMART
EGF_CA	709	753	1.34e-6	SMART
EGF_CA	754	799	1.65e-6	SMART
EGF_CA	800	847	2.06e-7	SMART
EGF_CA	848	890	3.56e-11	SMART
EGF_CA	891	932	3.48e-14	SMART
EGF_CA	933	971	1.7e-8	SMART
EGF_CA	972	1014	8.18e-11	SMART
EGF_CA	1015	1059	5.08e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147371

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out alle are viable, fertile and grossly normal with no apparent defects in elastic fiber formation in the aorta and skin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	C	13: 63,068,092	S393P	probably benign	Het
Adam6a	A	T	12: 113,544,949	D314V	probably benign	Het
Adamts18	C	T	8: 113,773,168	W371*	probably null	Het
Adamtsl2	T	A	2: 27,093,585	L331Q	probably damaging	Het
Akr1c13	G	T	13: 4,197,870	V214F	probably damaging	Het
Aldoart1	T	C	4: 72,852,443	T43A	probably benign	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ano7	T	C	1: 93,375,185	I15T	probably benign	Het
Aox3	A	T	1: 58,125,035	T155S	probably damaging	Het
Ap2a1	C	T	7: 44,904,419	V535M	probably damaging	Het
Apbb2	C	T	5: 66,400,076		probably null	Het
Astn1	C	A	1: 158,502,251	H225Q	possibly damaging	Het
Atm	A	G	9: 53,456,506	I2439T	possibly damaging	Het
Atp1b2	T	A	11: 69,601,334	I263F	probably damaging	Het
Ccdc184	A	T	15: 98,168,757	N148Y	probably benign	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,481,861		probably benign	Het
Cep192	C	G	18: 67,812,369	P180R	probably benign	Het
Cfap46	T	C	7: 139,657,281	Y571C	probably damaging	Het
Cfap46	A	T	7: 139,680,927	L85Q	probably damaging	Het
Chchd6	G	A	6: 89,384,660	L226F	probably damaging	Het
Cnot6l	A	G	5: 96,077,211	V541A	probably benign	Het
Cobl	T	C	11: 12,251,093	E1214G	probably damaging	Het
Cpsf2	G	A	12: 101,989,895	R319Q	probably benign	Het
Csdc2	T	C	15: 81,949,123	V107A	probably benign	Het
Csmd1	A	G	8: 16,697,917	W273R	probably benign	Het
Diexf	T	C	1: 193,107,695	T719A	probably benign	Het
Dnah2	T	A	11: 69,465,376	N2156I	probably damaging	Het
Dsp	A	G	13: 38,168,641	Y165C	probably benign	Het
Exoc1	T	C	5: 76,542,228	V205A	probably benign	Het
Fam98c	T	C	7: 29,155,268	T49A	possibly damaging	Het
Fhad1	A	T	4: 141,896,468	V1371D	possibly damaging	Het
Folh1	A	T	7: 86,773,252	M59K	probably benign	Het
Foxf2	A	T	13: 31,626,888	H270L	probably benign	Het
Gm14401	G	A	2: 177,086,316	R65H	probably benign	Het
Gpn1	C	A	5: 31,498,393	Y592*	probably null	Het
Hmcn1	T	G	1: 150,595,894	D4903A	probably benign	Het
Hnf1a	T	C	5: 114,955,871	R220G	probably damaging	Het
Hoxd10	G	A	2: 74,692,292	A105T	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kidins220	C	T	12: 25,057,042	T1498I	possibly damaging	Het
Klhl2	G	T	8: 64,758,191	Y274*	probably null	Het
Lmbrd1	A	G	1: 24,705,999	Y140C	probably damaging	Het
Mapk8ip3	G	A	17: 24,903,293	T706I	probably benign	Het
Mast4	A	C	13: 103,334,021	S58A	possibly damaging	Het
Mcm6	T	C	1: 128,351,548	D167G	probably benign	Het
Mmachc	A	T	4: 116,703,471	S276T	probably damaging	Het
Nfat5	A	T	8: 107,369,276	Q1289L	probably damaging	Het
Nlrc4	G	T	17: 74,446,628	F253L	probably damaging	Het
Nr1i3	C	A	1: 171,216,445	A112E	probably benign	Het
Olfr1367	T	C	13: 21,347,464	F179L	probably damaging	Het
Olfr45	T	A	7: 140,691,378	S158T	probably benign	Het
Olfr455	T	A	6: 42,538,441	T194S	possibly damaging	Het
Olfr853	G	T	9: 19,537,673	Q86K	possibly damaging	Het
Orc5	G	T	5: 22,548,005	F10L	probably benign	Het
Pde10a	A	C	17: 8,981,652	D779A	probably damaging	Het
Pde4b	T	C	4: 102,601,605	L486S	probably damaging	Het
Pex2	A	T	3: 5,561,281	I156N	probably damaging	Het
Phtf2	C	T	5: 20,773,740	R63Q	probably damaging	Het
Prag1	A	G	8: 36,103,292	Y343C	probably damaging	Het
Prdm16	A	T	4: 154,367,240	Y170N	probably damaging	Het
Prpf6	A	C	2: 181,601,474	K5T	probably damaging	Het
Ptpn1	A	G	2: 167,967,781	K103R	probably benign	Het
Ralgapa2	A	G	2: 146,361,453	S1159P	possibly damaging	Het
Rapgef3	G	T	15: 97,758,929	D318E	probably damaging	Het
Ripk4	A	T	16: 97,744,026	S474T	probably damaging	Het
Rmi1	A	G	13: 58,409,136	R400G	probably benign	Het
Sec16a	A	G	2: 26,429,393	V1491A	probably damaging	Het
Sec16a	C	T	2: 26,431,068		probably null	Het
Setd7	G	T	3: 51,542,665	N113K	probably damaging	Het
Shank2	C	T	7: 144,411,424	T1502M	probably damaging	Het
Skor1	A	T	9: 63,145,476	C376S	probably damaging	Het
Slc12a3	A	T	8: 94,329,384	L49F	probably benign	Het
Slc35d3	C	T	10: 19,849,331	V260M	probably damaging	Het
Slc46a1	T	A	11: 78,466,889	V256E	probably benign	Het
Slc6a1	T	C	6: 114,308,106	S127P	probably benign	Het
Syngr4	A	G	7: 45,887,028	L190P	probably damaging	Het
Tagap	G	A	17: 7,926,941		probably null	Het
Tamm41	A	T	6: 115,035,002	N89K	probably benign	Het
Tbc1d31	T	A	15: 57,967,912	M922K	probably benign	Het
Tbk1	T	C	10: 121,568,080	N254S	possibly damaging	Het
Tfec	A	G	6: 16,840,479	S140P	probably damaging	Het
Tnrc18	T	C	5: 142,740,128	E1802G	unknown	Het
Tom1l2	C	T	11: 60,242,707		probably null	Het
Tonsl	T	G	15: 76,637,224	K323Q	probably damaging	Het
Tsnaxip1	A	T	8: 105,841,407	E268D	probably damaging	Het
Ttf1	C	A	2: 29,065,160	H179N	possibly damaging	Het
Ttn	T	C	2: 76,726,173	S30163G	probably damaging	Het
Ube2c	A	G	2: 164,772,173	N143S	possibly damaging	Het
Ugt1a10	G	A	1: 88,218,390	R519Q	probably damaging	Het
Vmn2r9	T	C	5: 108,847,597	Y395C	probably damaging	Het
Vwa8	G	A	14: 79,103,697		probably null	Het
Zfp9	A	G	6: 118,464,976	Y242H	probably damaging	Het

Other mutations in Fbln2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Fbln2	APN	6	91266392	missense	probably damaging	1.00
IGL01664:Fbln2	APN	6	91233457	missense	probably damaging	0.96
IGL02110:Fbln2	APN	6	91234102	missense	probably benign	0.01
IGL02227:Fbln2	APN	6	91256367	missense	possibly damaging	0.90
IGL02814:Fbln2	APN	6	91265857	nonsense	probably null
IGL03287:Fbln2	APN	6	91233494	missense	probably damaging	1.00
IGL03412:Fbln2	APN	6	91271781	missense	probably damaging	1.00
IGL03014:Fbln2	UTSW	6	91265919	intron	probably benign
R0103:Fbln2	UTSW	6	91271550	missense	probably benign
R0103:Fbln2	UTSW	6	91271550	missense	probably benign
R1563:Fbln2	UTSW	6	91263383	nonsense	probably null
R1843:Fbln2	UTSW	6	91265775	missense	probably damaging	1.00
R1846:Fbln2	UTSW	6	91256417	missense	possibly damaging	0.91
R1994:Fbln2	UTSW	6	91234301	missense	probably damaging	1.00
R2431:Fbln2	UTSW	6	91269973	missense	probably damaging	0.98
R2443:Fbln2	UTSW	6	91259711	missense	probably damaging	1.00
R2925:Fbln2	UTSW	6	91265855	missense	probably damaging	1.00
R3030:Fbln2	UTSW	6	91233715	missense	probably damaging	1.00
R3758:Fbln2	UTSW	6	91256381	missense	probably damaging	1.00
R3854:Fbln2	UTSW	6	91266371	missense	probably damaging	1.00
R4006:Fbln2	UTSW	6	91269961	splice site	probably null
R4752:Fbln2	UTSW	6	91256243	missense	probably benign
R4763:Fbln2	UTSW	6	91270000	missense	probably damaging	1.00
R4798:Fbln2	UTSW	6	91269186	missense	probably benign	0.03
R4877:Fbln2	UTSW	6	91233495	missense	probably damaging	1.00
R4878:Fbln2	UTSW	6	91256995	critical splice donor site	probably null
R4937:Fbln2	UTSW	6	91264699	missense	probably damaging	0.99
R4969:Fbln2	UTSW	6	91271587	missense	possibly damaging	0.64
R4996:Fbln2	UTSW	6	91266010	missense	probably benign	0.05
R5344:Fbln2	UTSW	6	91266383	missense	probably damaging	1.00
R5681:Fbln2	UTSW	6	91271796	missense	probably damaging	1.00
R5838:Fbln2	UTSW	6	91271848	missense	possibly damaging	0.55
R6035:Fbln2	UTSW	6	91263353	missense	probably damaging	1.00
R6035:Fbln2	UTSW	6	91263353	missense	probably damaging	1.00
R6288:Fbln2	UTSW	6	91233281	missense	probably damaging	1.00
R6433:Fbln2	UTSW	6	91233272	missense	probably damaging	1.00
R6451:Fbln2	UTSW	6	91234259	missense	probably benign	0.18
R6491:Fbln2	UTSW	6	91259750	missense	possibly damaging	0.68
R6520:Fbln2	UTSW	6	91259659	missense	probably damaging	1.00
R6657:Fbln2	UTSW	6	91259750	missense	possibly damaging	0.68
R6987:Fbln2	UTSW	6	91234229	missense	probably benign	0.00
R7344:Fbln2	UTSW	6	91269973	missense	probably damaging	0.98
R7485:Fbln2	UTSW	6	91270161	splice site	probably null
R7488:Fbln2	UTSW	6	91265863	critical splice donor site	probably null
R7571:Fbln2	UTSW	6	91268575	missense	probably damaging	1.00
R7667:Fbln2	UTSW	6	91233667	missense	probably damaging	1.00
R7776:Fbln2	UTSW	6	91269199	missense	probably damaging	1.00
R7779:Fbln2	UTSW	6	91233194	missense	probably damaging	1.00
R8320:Fbln2	UTSW	6	91257767	missense	possibly damaging	0.51
Z1088:Fbln2	UTSW	6	91233346	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCGCACACAGGTTCTTTATC -3'
(R):5'- ATATCTGGGAACACAGCCATGG -3'

Sequencing Primer
(F):5'- TGGCAGACACGCCTCTCTAAC -3'
(R):5'- CACAGCCATGGAGAACAAGCG -3'

Posted On

2015-10-08