Mutagenetix > Incidental Mutations

Incidental Mutation 'R2431:Fbln2'

250399

Institutional Source

Beutler Lab

Gene Symbol

Fbln2

Ensembl Gene

ENSMUSG00000064080

Gene Name

fibulin 2

Synonyms

5730577E14Rik

MMRRC Submission

040392-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2431 (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 91269973 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1065 (E1065G)

Ref Sequence

ENSEMBL: ENSMUSP00000048334 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000041544
AA Change: E1065G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: E1065G

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: E1018G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
AA Change: E1018G

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: ENSMUST00000137029

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap23	T	C	11: 97,452,404	V504A	probably benign	Het
Atr	T	G	9: 95,862,892	N87K	probably benign	Het
Auts2	A	T	5: 132,259,048	L32*	probably null	Het
Bptf	A	G	11: 107,047,240	V2675A	possibly damaging	Het
Brdt	C	T	5: 107,378,015		probably null	Het
Ccdc162	T	C	10: 41,569,845	K444E	probably benign	Het
Cnot1	T	C	8: 95,774,652	D96G	probably damaging	Het
Cpq	C	A	15: 33,594,119	Y425*	probably null	Het
Eri1	A	G	8: 35,476,478	Y221H	probably damaging	Het
Focad	T	C	4: 88,331,027	V837A	unknown	Het
Ica1	G	A	6: 8,658,265	T284I	probably benign	Het
Isg15	C	T	4: 156,200,701		probably null	Het
Ltbp4	T	C	7: 27,319,676	T1073A	possibly damaging	Het
Mmp16	A	T	4: 18,054,491	R332S	probably benign	Het
Myg1	G	C	15: 102,337,736	G349R	probably damaging	Het
Olfr1444	T	C	19: 12,862,606	V277A	probably damaging	Het
Olfr447	T	C	6: 42,912,012	L163S	probably damaging	Het
Olfr703	T	C	7: 106,845,391	V260A	possibly damaging	Het
Olfr834	A	G	9: 18,988,003	N5S	probably damaging	Het
Piezo2	T	C	18: 63,245,624	H78R	possibly damaging	Het
Pkd1l1	T	C	11: 8,947,197	N121D	probably damaging	Het
Pkhd1	T	C	1: 20,201,165	T3055A	possibly damaging	Het
Ppp5c	C	T	7: 17,015,425	V160M	probably damaging	Het
Ptpn23	G	A	9: 110,386,279	R1438*	probably null	Het
Ptpro	G	A	6: 137,443,585	W183*	probably null	Het
Pygm	T	C	19: 6,393,785	M592T	probably damaging	Het
Qdpr	A	G	5: 45,444,730	V68A	probably damaging	Het
Rfc5	A	C	5: 117,385,458	S92A	probably damaging	Het
Ripor3	T	C	2: 167,989,795	Q362R	probably benign	Het
Ror1	G	A	4: 100,441,155	C575Y	probably damaging	Het
Skint9	T	A	4: 112,389,267	D216V	probably damaging	Het
Sox6	T	C	7: 115,550,007		probably null	Het
Ugp2	A	T	11: 21,329,025	V387D	probably damaging	Het
Umodl1	T	C	17: 30,992,088	S747P	possibly damaging	Het
Vtcn1	A	T	3: 100,825,577	I7F	possibly damaging	Het
Zfp507	C	T	7: 35,795,402	R72H	probably benign	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
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'- ATGTAGCGGGCAATCATGAAC -3'
(R):5'- GTGTCCCAGTGGCAGTAAAG -3'

Sequencing Primer
(F):5'- CTTTATTCTGAGAAGCCAGCAG -3'
(R):5'- GCAGTAAAGAGCCCTGGATCAC -3'

Posted On

2014-11-12