Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01664:Fbln2'

103261

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbln2

Ensembl Gene

ENSMUSG00000064080

Gene Name

fibulin 2

Synonyms

5730577E14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01664

Quality Score

Status

Chromosome

Chromosomal Location

91189442-91249522 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91210439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 128 (D128N)

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: D128N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: D128N

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: D128N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
AA Change: D128N

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

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Col19a1	T	A	1: 24,600,416 (GRCm39)	Y42F	unknown	Het
Ddx31	T	C	2: 28,765,847 (GRCm39)		probably benign	Het
Fgf7	G	T	2: 125,877,907 (GRCm39)	M91I	probably benign	Het
Gm28539	A	G	16: 18,655,523 (GRCm39)	H31R	possibly damaging	Het
Hivep1	T	G	13: 42,312,755 (GRCm39)	V1665G	probably benign	Het
Ifih1	T	C	2: 62,442,044 (GRCm39)		probably benign	Het
Il10	G	T	1: 130,949,214 (GRCm39)	R125L	possibly damaging	Het
Kalrn	C	T	16: 34,114,531 (GRCm39)	R574H	probably damaging	Het
Lmln	A	G	16: 32,901,357 (GRCm39)	E251G	probably benign	Het
Or4e5	T	C	14: 52,728,002 (GRCm39)	N57D	probably benign	Het
Or52n2c	T	C	7: 104,574,311 (GRCm39)	Y220C	probably damaging	Het
Or56a3b	T	A	7: 104,771,423 (GRCm39)	L253Q	probably damaging	Het
Otol1	A	G	3: 69,935,130 (GRCm39)	D374G	probably benign	Het
Pcdhb15	T	C	18: 37,607,314 (GRCm39)	V182A	probably benign	Het
Polr3e	T	C	7: 120,530,540 (GRCm39)		probably benign	Het
Sectm1a	A	T	11: 120,959,870 (GRCm39)	S149T	possibly damaging	Het
Slfn10-ps	A	G	11: 82,926,761 (GRCm39)		noncoding transcript	Het
Sox1ot	A	G	8: 12,480,670 (GRCm39)		noncoding transcript	Het
Tnik	G	T	3: 28,692,628 (GRCm39)	G895C	probably 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
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
R1994:Fbln2	UTSW	6	91,211,283 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-01-21