Mutagenetix > Incidental Mutations

Incidental Mutation 'R1994:Fbln2'

224118

Institutional Source

Beutler Lab

Gene Symbol

Fbln2

Ensembl Gene

ENSMUSG00000064080

Gene Name

fibulin 2

Synonyms

5730577E14Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1994 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91212455-91272540 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91234301 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 409 (E409G)

Ref Sequence

ENSEMBL: ENSMUSP00000109126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041544] [ENSMUST00000113498] [ENSMUST00000132021] [ENSMUST00000134974] [ENSMUST00000153364]

Predicted Effect

probably damaging
Transcript: ENSMUST00000041544
AA Change: E409G

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

SMART Domains

Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: E409G

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 damaging
Transcript: ENSMUST00000113498
AA Change: E409G

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

SMART Domains

Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
AA Change: E409G

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

probably benign
Transcript: ENSMUST00000132021

SMART Domains

Protein: ENSMUSP00000116456
Gene: ENSMUSG00000064080

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134974

SMART Domains

Protein: ENSMUSP00000116302
Gene: ENSMUSG00000064080

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153364

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,282,670		probably null	Het
Abcc8	T	G	7: 46,157,119	R388S	probably benign	Het
Abhd18	C	T	3: 40,934,926	R414*	probably null	Het
Acap1	C	T	11: 69,889,498	V40I	probably benign	Het
Actn1	C	A	12: 80,204,971	G111*	probably null	Het
Adam26b	T	C	8: 43,520,639	Q442R	probably benign	Het
Adamts19	T	C	18: 58,972,831		probably null	Het
Agtpbp1	T	G	13: 59,531,058	K145N	probably damaging	Het
AI661453	A	G	17: 47,467,034		probably benign	Het
Ap4e1	T	C	2: 127,061,547	S790P	probably benign	Het
Asmt	A	G	X: 170,675,789	E168G	possibly damaging	Het
Atp2a3	T	A	11: 72,975,414	S287T	probably damaging	Het
AY358078	T	A	14: 51,826,062	D388E	probably damaging	Het
Bicd1	A	T	6: 149,513,552	T588S	probably benign	Het
Birc6	T	G	17: 74,598,062	N1283K	probably benign	Het
Cacna1e	T	A	1: 154,477,817	Q423L	probably damaging	Het
Capn3	T	A	2: 120,495,937	Y537N	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Chgb	T	C	2: 132,786,498	S48P	possibly damaging	Het
Cidec	T	A	6: 113,428,232	Y159F	probably damaging	Het
Clec18a	T	C	8: 111,081,602	S66G	possibly damaging	Het
Cpsf1	G	A	15: 76,603,160	T138M	probably benign	Het
Dclre1c	C	T	2: 3,437,985	R61W	probably damaging	Het
Eef1akmt1	A	C	14: 57,550,454	V149G	probably benign	Het
Fam131b	T	C	6: 42,320,884	T112A	possibly damaging	Het
Fkbp15	G	A	4: 62,304,381	P1094S	probably benign	Het
Fpr1	A	G	17: 17,877,617	S37P	probably benign	Het
Fryl	G	T	5: 73,108,493	T495K	probably damaging	Het
Gja6	A	T	X: 160,903,378	I186N	possibly damaging	Het
Gm4922	T	C	10: 18,783,640	T445A	probably benign	Het
Gria2	G	A	3: 80,802,357	L10F	probably benign	Het
Gspt2	A	G	X: 94,637,419	D388G	possibly damaging	Het
Hdc	T	A	2: 126,616,187	I72F	probably damaging	Het
Igf2r	T	C	17: 12,692,738	K1905E	probably benign	Het
Il33	A	G	19: 29,956,904	D155G	possibly damaging	Het
Klk1b9	C	T	7: 43,979,555	T161I	probably benign	Het
Mfsd12	C	A	10: 81,357,681	H28Q	probably damaging	Het
Mgat5	A	T	1: 127,459,959	I551F	possibly damaging	Het
Miga2	A	T	2: 30,381,988	D25V	probably damaging	Het
Mlc1	T	C	15: 88,974,579	N122S	possibly damaging	Het
Mmp20	T	A	9: 7,645,292	M281K	probably benign	Het
Muc5ac	C	A	7: 141,813,152	P2232T	possibly damaging	Het
N4bp2l2	A	G	5: 150,661,283	S411P	possibly damaging	Het
Ngef	G	A	1: 87,487,904	S346L	probably damaging	Het
Nov	T	A	15: 54,749,354	V253E	probably benign	Het
Olfr1217	T	A	2: 89,023,143	T287S	probably damaging	Het
Olfr1309	T	A	2: 111,984,084	M5L	probably benign	Het
Olfr1408	C	T	1: 173,130,851	R122H	possibly damaging	Het
Olfr553	C	T	7: 102,614,540	V150M	probably damaging	Het
Olfr612	T	C	7: 103,538,359	I292V	possibly damaging	Het
Olfr661	T	C	7: 104,688,483	I156T	probably benign	Het
Olfr720	A	G	14: 14,175,854	I76T	probably benign	Het
Olfr782	T	A	10: 129,350,692	I43N	probably damaging	Het
Olfr811	T	C	10: 129,801,661	Y288C	probably damaging	Het
Papd5	C	T	8: 88,246,484	T277M	probably damaging	Het
Pecam1	G	T	11: 106,695,937	H150N	possibly damaging	Het
Polr3c	A	T	3: 96,714,373		probably null	Het
Pop1	A	C	15: 34,530,471	Q1005P	probably damaging	Het
Prss22	G	A	17: 23,996,314	P163S	probably damaging	Het
Prss33	G	A	17: 23,834,198	A223V	probably damaging	Het
Prss53	C	T	7: 127,887,393	V354I	probably benign	Het
Rab3gap2	C	T	1: 185,236,024	T191I	probably damaging	Het
Rictor	T	C	15: 6,776,156	F608L	probably benign	Het
Ryr3	T	A	2: 112,654,492	E3884V	probably null	Het
Scaf11	G	A	15: 96,418,840	R948*	probably null	Het
Sec61g	A	T	11: 16,506,444	V40E	probably damaging	Het
Serpinb3d	A	T	1: 107,080,788	F116I	possibly damaging	Het
Sipa1l3	T	C	7: 29,399,611	D411G	probably benign	Het
Slc13a3	T	C	2: 165,434,064	N254S	possibly damaging	Het
Slc35a2	T	A	X: 7,892,825	L110Q	probably damaging	Het
Spata31d1b	G	C	13: 59,716,380	L447F	probably benign	Het
Spsb2	T	C	6: 124,809,366		probably null	Het
Tmcc3	T	C	10: 94,578,606	S57P	possibly damaging	Het
Traf7	A	G	17: 24,510,502	V445A	probably damaging	Het
Trib1	A	G	15: 59,649,343	S61G	possibly damaging	Het
Trip12	A	T	1: 84,749,172	F36I	probably damaging	Het
Tshz3	T	C	7: 36,769,822	I412T	probably damaging	Het
Tsku	T	C	7: 98,352,146	Y326C	probably damaging	Het
Ttc30b	A	G	2: 75,938,058	L117P	probably damaging	Het
Ttn	T	G	2: 76,881,694		probably benign	Het
Ugt1a6a	G	A	1: 88,138,748	R92H	probably benign	Het
Vmn1r63	A	G	7: 5,803,255	V126A	probably benign	Het
Vmn2r84	T	A	10: 130,386,009	S781C	probably damaging	Het
Wdr91	T	A	6: 34,892,362	H409L	probably damaging	Het
Wnt7a	T	A	6: 91,365,956	T315S	possibly damaging	Het
Zdhhc25	A	G	15: 88,600,824	T121A	probably benign	Het
Zfp109	T	C	7: 24,229,318	H222R	probably benign	Het
Zfp286	A	G	11: 62,779,820	S476P	probably damaging	Het
Zfp605	T	C	5: 110,127,552	Y179H	probably damaging	Het
Zfp955a	T	C	17: 33,241,646	H504R	probably damaging	Het
Zswim2	T	A	2: 83,915,663	N477I	possibly 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
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
R4627:Fbln2	UTSW	6	91259767	missense	probably damaging	1.00
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	intron	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
Z1088:Fbln2	UTSW	6	91233346	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACTCCTCGAAGTGTCATGC -3'
(R):5'- CTCGGACCACTTTGTCTCAG -3'

Sequencing Primer
(F):5'- TCCTCGAAGTGTCATGCAGGAG -3'
(R):5'- GACCACTTTGTCTCAGGCCTG -3'

Posted On

2014-08-25