Mutagenetix > Incidental Mutation

Incidental Mutation 'R1994:Fbln2'

224118

Institutional Source

Beutler Lab

Gene Symbol

Fbln2

Ensembl Gene

ENSMUSG00000064080

Gene Name

fibulin 2

Synonyms

5730577E14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1994 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91189442-91249522 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91211283 bp (GRCm39)

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]

AlphaFold

P37889

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: 69,113,014 (GRCm39)		probably null	Het
Abcc8	T	G	7: 45,806,543 (GRCm39)	R388S	probably benign	Het
Abhd18	C	T	3: 40,889,361 (GRCm39)	R414*	probably null	Het
Acap1	C	T	11: 69,780,324 (GRCm39)	V40I	probably benign	Het
Actn1	C	A	12: 80,251,745 (GRCm39)	G111*	probably null	Het
Adam26b	T	C	8: 43,973,676 (GRCm39)	Q442R	probably benign	Het
Adamts19	T	C	18: 59,105,903 (GRCm39)		probably null	Het
Agtpbp1	T	G	13: 59,678,872 (GRCm39)	K145N	probably damaging	Het
AI661453	A	G	17: 47,777,959 (GRCm39)		probably benign	Het
Ap4e1	T	C	2: 126,903,467 (GRCm39)	S790P	probably benign	Het
Asmt	A	G	X: 169,109,524 (GRCm39)	E168G	possibly damaging	Het
Atp2a3	T	A	11: 72,866,240 (GRCm39)	S287T	probably damaging	Het
AY358078	T	A	14: 52,063,519 (GRCm39)	D388E	probably damaging	Het
Bicd1	A	T	6: 149,415,050 (GRCm39)	T588S	probably benign	Het
Birc6	T	G	17: 74,905,057 (GRCm39)	N1283K	probably benign	Het
Cacna1e	T	A	1: 154,353,563 (GRCm39)	Q423L	probably damaging	Het
Capn3	T	A	2: 120,326,418 (GRCm39)	Y537N	probably damaging	Het
Ccn3	T	A	15: 54,612,750 (GRCm39)	V253E	probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Chgb	T	C	2: 132,628,418 (GRCm39)	S48P	possibly damaging	Het
Cidec	T	A	6: 113,405,193 (GRCm39)	Y159F	probably damaging	Het
Clec18a	T	C	8: 111,808,234 (GRCm39)	S66G	possibly damaging	Het
Cpsf1	G	A	15: 76,487,360 (GRCm39)	T138M	probably benign	Het
Dclre1c	C	T	2: 3,439,022 (GRCm39)	R61W	probably damaging	Het
Eef1akmt1	A	C	14: 57,787,911 (GRCm39)	V149G	probably benign	Het
Fam131b	T	C	6: 42,297,818 (GRCm39)	T112A	possibly damaging	Het
Fkbp15	G	A	4: 62,222,618 (GRCm39)	P1094S	probably benign	Het
Fpr1	A	G	17: 18,097,879 (GRCm39)	S37P	probably benign	Het
Fryl	G	T	5: 73,265,836 (GRCm39)	T495K	probably damaging	Het
Gja6	A	T	X: 159,686,374 (GRCm39)	I186N	possibly damaging	Het
Gm4922	T	C	10: 18,659,388 (GRCm39)	T445A	probably benign	Het
Gria2	G	A	3: 80,709,664 (GRCm39)	L10F	probably benign	Het
Gspt2	A	G	X: 93,681,025 (GRCm39)	D388G	possibly damaging	Het
Hdc	T	A	2: 126,458,107 (GRCm39)	I72F	probably damaging	Het
Ift70b	A	G	2: 75,768,402 (GRCm39)	L117P	probably damaging	Het
Igf2r	T	C	17: 12,911,625 (GRCm39)	K1905E	probably benign	Het
Il33	A	G	19: 29,934,304 (GRCm39)	D155G	possibly damaging	Het
Klk1b9	C	T	7: 43,628,979 (GRCm39)	T161I	probably benign	Het
Mfsd12	C	A	10: 81,193,515 (GRCm39)	H28Q	probably damaging	Het
Mgat5	A	T	1: 127,387,696 (GRCm39)	I551F	possibly damaging	Het
Miga2	A	T	2: 30,272,000 (GRCm39)	D25V	probably damaging	Het
Mlc1	T	C	15: 88,858,782 (GRCm39)	N122S	possibly damaging	Het
Mmp20	T	A	9: 7,645,293 (GRCm39)	M281K	probably benign	Het
Muc5ac	C	A	7: 141,366,889 (GRCm39)	P2232T	possibly damaging	Het
N4bp2l2	A	G	5: 150,584,748 (GRCm39)	S411P	possibly damaging	Het
Ngef	G	A	1: 87,415,626 (GRCm39)	S346L	probably damaging	Het
Or10j27	C	T	1: 172,958,418 (GRCm39)	R122H	possibly damaging	Het
Or2t6	A	G	14: 14,175,854 (GRCm38)	I76T	probably benign	Het
Or4c112	T	A	2: 88,853,487 (GRCm39)	T287S	probably damaging	Het
Or4f15	T	A	2: 111,814,429 (GRCm39)	M5L	probably benign	Het
Or51aa2	T	C	7: 103,187,566 (GRCm39)	I292V	possibly damaging	Het
Or52m2	C	T	7: 102,263,747 (GRCm39)	V150M	probably damaging	Het
Or56b2	T	C	7: 104,337,690 (GRCm39)	I156T	probably benign	Het
Or6c215	T	C	10: 129,637,530 (GRCm39)	Y288C	probably damaging	Het
Or6c6	T	A	10: 129,186,561 (GRCm39)	I43N	probably damaging	Het
Pecam1	G	T	11: 106,586,763 (GRCm39)	H150N	possibly damaging	Het
Polr3c	A	T	3: 96,621,689 (GRCm39)		probably null	Het
Pop1	A	C	15: 34,530,617 (GRCm39)	Q1005P	probably damaging	Het
Prss22	G	A	17: 24,215,288 (GRCm39)	P163S	probably damaging	Het
Prss33	G	A	17: 24,053,172 (GRCm39)	A223V	probably damaging	Het
Prss53	C	T	7: 127,486,565 (GRCm39)	V354I	probably benign	Het
Rab3gap2	C	T	1: 184,968,221 (GRCm39)	T191I	probably damaging	Het
Rictor	T	C	15: 6,805,637 (GRCm39)	F608L	probably benign	Het
Ryr3	T	A	2: 112,484,837 (GRCm39)	E3884V	probably null	Het
Scaf11	G	A	15: 96,316,721 (GRCm39)	R948*	probably null	Het
Sec61g	A	T	11: 16,456,444 (GRCm39)	V40E	probably damaging	Het
Serpinb3d	A	T	1: 107,008,518 (GRCm39)	F116I	possibly damaging	Het
Sipa1l3	T	C	7: 29,099,036 (GRCm39)	D411G	probably benign	Het
Slc13a3	T	C	2: 165,275,984 (GRCm39)	N254S	possibly damaging	Het
Slc35a2	T	A	X: 7,759,064 (GRCm39)	L110Q	probably damaging	Het
Spata31d1b	G	C	13: 59,864,194 (GRCm39)	L447F	probably benign	Het
Spsb2	T	C	6: 124,786,329 (GRCm39)		probably null	Het
Tent4b	C	T	8: 88,973,112 (GRCm39)	T277M	probably damaging	Het
Tmcc3	T	C	10: 94,414,468 (GRCm39)	S57P	possibly damaging	Het
Traf7	A	G	17: 24,729,476 (GRCm39)	V445A	probably damaging	Het
Trib1	A	G	15: 59,521,192 (GRCm39)	S61G	possibly damaging	Het
Trip12	A	T	1: 84,726,893 (GRCm39)	F36I	probably damaging	Het
Tshz3	T	C	7: 36,469,247 (GRCm39)	I412T	probably damaging	Het
Tsku	T	C	7: 98,001,353 (GRCm39)	Y326C	probably damaging	Het
Ttn	T	G	2: 76,712,038 (GRCm39)		probably benign	Het
Ugt1a6a	G	A	1: 88,066,470 (GRCm39)	R92H	probably benign	Het
Vmn1r63	A	G	7: 5,806,254 (GRCm39)	V126A	probably benign	Het
Vmn2r84	T	A	10: 130,221,878 (GRCm39)	S781C	probably damaging	Het
Wdr91	T	A	6: 34,869,297 (GRCm39)	H409L	probably damaging	Het
Wnt7a	T	A	6: 91,342,938 (GRCm39)	T315S	possibly damaging	Het
Zdhhc25	A	G	15: 88,485,027 (GRCm39)	T121A	probably benign	Het
Zfp109	T	C	7: 23,928,743 (GRCm39)	H222R	probably benign	Het
Zfp286	A	G	11: 62,670,646 (GRCm39)	S476P	probably damaging	Het
Zfp605	T	C	5: 110,275,418 (GRCm39)	Y179H	probably damaging	Het
Zfp955a	T	C	17: 33,460,620 (GRCm39)	H504R	probably damaging	Het
Zswim2	T	A	2: 83,746,007 (GRCm39)	N477I	possibly damaging	Het

Other mutations in Fbln2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Fbln2	APN	6	91,243,374 (GRCm39)	missense	probably damaging	1.00
IGL01664:Fbln2	APN	6	91,210,439 (GRCm39)	missense	probably damaging	0.96
IGL02110:Fbln2	APN	6	91,211,084 (GRCm39)	missense	probably benign	0.01
IGL02227:Fbln2	APN	6	91,233,349 (GRCm39)	missense	possibly damaging	0.90
IGL02814:Fbln2	APN	6	91,242,839 (GRCm39)	nonsense	probably null
IGL03287:Fbln2	APN	6	91,210,476 (GRCm39)	missense	probably damaging	1.00
IGL03412:Fbln2	APN	6	91,248,763 (GRCm39)	missense	probably damaging	1.00
IGL03014:Fbln2	UTSW	6	91,242,901 (GRCm39)	intron	probably benign
R0103:Fbln2	UTSW	6	91,248,532 (GRCm39)	missense	probably benign
R0103:Fbln2	UTSW	6	91,248,532 (GRCm39)	missense	probably benign
R1563:Fbln2	UTSW	6	91,240,365 (GRCm39)	nonsense	probably null
R1843:Fbln2	UTSW	6	91,242,757 (GRCm39)	missense	probably damaging	1.00
R1846:Fbln2	UTSW	6	91,233,399 (GRCm39)	missense	possibly damaging	0.91
R2431:Fbln2	UTSW	6	91,246,955 (GRCm39)	missense	probably damaging	0.98
R2443:Fbln2	UTSW	6	91,236,693 (GRCm39)	missense	probably damaging	1.00
R2925:Fbln2	UTSW	6	91,242,837 (GRCm39)	missense	probably damaging	1.00
R3030:Fbln2	UTSW	6	91,210,697 (GRCm39)	missense	probably damaging	1.00
R3758:Fbln2	UTSW	6	91,233,363 (GRCm39)	missense	probably damaging	1.00
R3854:Fbln2	UTSW	6	91,243,353 (GRCm39)	missense	probably damaging	1.00
R4006:Fbln2	UTSW	6	91,246,943 (GRCm39)	splice site	probably null
R4627:Fbln2	UTSW	6	91,236,749 (GRCm39)	missense	probably damaging	1.00
R4752:Fbln2	UTSW	6	91,233,225 (GRCm39)	missense	probably benign
R4763:Fbln2	UTSW	6	91,246,982 (GRCm39)	missense	probably damaging	1.00
R4798:Fbln2	UTSW	6	91,246,168 (GRCm39)	missense	probably benign	0.03
R4877:Fbln2	UTSW	6	91,210,477 (GRCm39)	missense	probably damaging	1.00
R4878:Fbln2	UTSW	6	91,233,977 (GRCm39)	critical splice donor site	probably null
R4937:Fbln2	UTSW	6	91,241,681 (GRCm39)	missense	probably damaging	0.99
R4969:Fbln2	UTSW	6	91,248,569 (GRCm39)	missense	possibly damaging	0.64
R4996:Fbln2	UTSW	6	91,242,992 (GRCm39)	missense	probably benign	0.05
R5344:Fbln2	UTSW	6	91,243,365 (GRCm39)	missense	probably damaging	1.00
R5681:Fbln2	UTSW	6	91,248,778 (GRCm39)	missense	probably damaging	1.00
R5838:Fbln2	UTSW	6	91,248,830 (GRCm39)	missense	possibly damaging	0.55
R6035:Fbln2	UTSW	6	91,240,335 (GRCm39)	missense	probably damaging	1.00
R6035:Fbln2	UTSW	6	91,240,335 (GRCm39)	missense	probably damaging	1.00
R6288:Fbln2	UTSW	6	91,210,263 (GRCm39)	missense	probably damaging	1.00
R6433:Fbln2	UTSW	6	91,210,254 (GRCm39)	missense	probably damaging	1.00
R6451:Fbln2	UTSW	6	91,211,241 (GRCm39)	missense	probably benign	0.18
R6491:Fbln2	UTSW	6	91,236,732 (GRCm39)	missense	possibly damaging	0.68
R6520:Fbln2	UTSW	6	91,236,641 (GRCm39)	missense	probably damaging	1.00
R6657:Fbln2	UTSW	6	91,236,732 (GRCm39)	missense	possibly damaging	0.68
R6987:Fbln2	UTSW	6	91,211,211 (GRCm39)	missense	probably benign	0.00
R7344:Fbln2	UTSW	6	91,246,955 (GRCm39)	missense	probably damaging	0.98
R7485:Fbln2	UTSW	6	91,247,143 (GRCm39)	splice site	probably null
R7488:Fbln2	UTSW	6	91,242,845 (GRCm39)	critical splice donor site	probably null
R7571:Fbln2	UTSW	6	91,245,557 (GRCm39)	missense	probably damaging	1.00
R7667:Fbln2	UTSW	6	91,210,649 (GRCm39)	missense	probably damaging	1.00
R7776:Fbln2	UTSW	6	91,246,181 (GRCm39)	missense	probably damaging	1.00
R7779:Fbln2	UTSW	6	91,210,176 (GRCm39)	missense	probably damaging	1.00
R8320:Fbln2	UTSW	6	91,234,749 (GRCm39)	missense	possibly damaging	0.51
R8487:Fbln2	UTSW	6	91,227,846 (GRCm39)	missense	probably damaging	0.97
R8871:Fbln2	UTSW	6	91,233,215 (GRCm39)	critical splice acceptor site	probably null
R8912:Fbln2	UTSW	6	91,240,420 (GRCm39)	missense	possibly damaging	0.95
R8931:Fbln2	UTSW	6	91,246,072 (GRCm39)	missense	probably damaging	1.00
R9127:Fbln2	UTSW	6	91,210,473 (GRCm39)	missense	probably damaging	0.98
R9248:Fbln2	UTSW	6	91,231,556 (GRCm39)	missense	possibly damaging	0.51
R9566:Fbln2	UTSW	6	91,231,513 (GRCm39)	missense	probably benign	0.01
Z1088:Fbln2	UTSW	6	91,210,328 (GRCm39)	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