Mutagenetix > Incidental Mutation

Incidental Mutation 'R4969:Fbln2'

384264

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 #

R4969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91189442-91249522 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91248569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1078 (H1078L)

Ref Sequence

ENSEMBL: ENSMUSP00000109126 (fasta)

Gene Model

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

AlphaFold

P37889

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041544
AA Change: H1125L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: H1125L

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

possibly damaging
Transcript: ENSMUST00000113498
AA Change: H1078L

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
AA Change: H1078L

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: 96.6%
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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,754,943 (GRCm39)	I1525T	probably benign	Het
Agtpbp1	A	G	13: 59,648,392 (GRCm39)	V476A	probably benign	Het
Aipl1	A	G	11: 71,922,256 (GRCm39)	I151T	probably benign	Het
Apc	C	T	18: 34,445,971 (GRCm39)	R938*	probably null	Het
Atp2a2	A	G	5: 122,596,554 (GRCm39)	F855S	possibly damaging	Het
Axdnd1	T	C	1: 156,223,075 (GRCm39)	T261A	possibly damaging	Het
Cbfa2t2	A	G	2: 154,365,900 (GRCm39)	D370G	probably damaging	Het
Cep350	T	C	1: 155,736,025 (GRCm39)	I2964V	probably damaging	Het
Clec16a	T	C	16: 10,386,375 (GRCm39)	V158A	probably damaging	Het
Col6a5	G	A	9: 105,741,806 (GRCm39)	T2371I	probably damaging	Het
Cpne8	T	C	15: 90,503,929 (GRCm39)	T79A	probably damaging	Het
Cyp2b13	A	G	7: 25,780,413 (GRCm39)	R145G	probably damaging	Het
Disc1	G	A	8: 125,851,289 (GRCm39)	W391*	probably null	Het
Dnah8	G	A	17: 30,941,988 (GRCm39)	V1745I	probably damaging	Het
Dsp	T	C	13: 38,376,886 (GRCm39)	V1557A	probably benign	Het
Egfem1	T	A	3: 29,637,145 (GRCm39)	Y194N	probably damaging	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Esd	T	A	14: 74,982,153 (GRCm39)	S189R	possibly damaging	Het
Fancf	A	T	7: 51,511,196 (GRCm39)	Y269*	probably null	Het
Fbxw13	A	G	9: 109,010,592 (GRCm39)		probably null	Het
Fcgr2b	A	T	1: 170,790,941 (GRCm39)	V284D	probably benign	Het
Fuz	G	A	7: 44,549,718 (GRCm39)	G363R	probably damaging	Het
Gas7	A	G	11: 67,574,234 (GRCm39)	E403G	probably damaging	Het
Gnl1	A	G	17: 36,291,581 (GRCm39)	D49G	possibly damaging	Het
Gucy2g	A	G	19: 55,214,445 (GRCm39)	V561A	probably benign	Het
H1f7	A	T	15: 98,154,216 (GRCm39)	V311E	unknown	Het
Hebp2	T	C	10: 18,420,122 (GRCm39)	T104A	probably benign	Het
Ighv1-19	T	A	12: 114,672,377 (GRCm39)	Q80L	probably benign	Het
Kctd19	T	A	8: 106,122,959 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,955,428 (GRCm39)	L905P	probably damaging	Het
Klkb1	T	C	8: 45,735,814 (GRCm39)	D183G	probably benign	Het
Krt6b	T	C	15: 101,588,460 (GRCm39)	R67G	possibly damaging	Het
Krt75	T	C	15: 101,482,248 (GRCm39)	I7V	probably benign	Het
Lpo	A	T	11: 87,697,751 (GRCm39)	N685K	probably benign	Het
Mroh7	A	T	4: 106,538,070 (GRCm39)	I1202N	probably benign	Het
Muc4	T	A	16: 32,754,572 (GRCm38)	M1482K	probably benign	Het
Mylk	T	A	16: 34,791,810 (GRCm39)	V1494E	probably damaging	Het
Neurl4	A	G	11: 69,801,913 (GRCm39)	D17G	probably damaging	Het
Nkx6-3	A	G	8: 23,647,725 (GRCm39)	Y228C	probably damaging	Het
Nprl2	G	A	9: 107,420,273 (GRCm39)		probably null	Het
Nxf1	A	G	19: 8,739,669 (GRCm39)		probably null	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or52u1	A	T	7: 104,237,730 (GRCm39)	N240Y	probably damaging	Het
Pde3b	A	G	7: 114,118,847 (GRCm39)	E662G	possibly damaging	Het
Plekhm3	G	A	1: 64,977,078 (GRCm39)	R131C	probably damaging	Het
Plpp7	T	C	2: 31,985,950 (GRCm39)	S43P	probably benign	Het
Pramel5	A	G	4: 143,998,187 (GRCm39)	L352P	probably damaging	Het
Prepl	T	C	17: 85,395,902 (GRCm39)	S27G	probably benign	Het
Ptprd	A	G	4: 76,051,542 (GRCm39)	I227T	probably damaging	Het
Pttg1ip	C	T	10: 77,419,854 (GRCm39)	Q6*	probably null	Het
Rgl1	C	T	1: 152,424,813 (GRCm39)		probably null	Het
Riiad1	C	A	3: 94,380,173 (GRCm39)	G41*	probably null	Het
Rnf214	C	T	9: 45,807,486 (GRCm39)	R239H	probably damaging	Het
Rpap3	C	T	15: 97,584,407 (GRCm39)	V346I	probably benign	Het
Scaf4	G	A	16: 90,048,831 (GRCm39)	Q328*	probably null	Het
Sec23a	A	G	12: 59,051,274 (GRCm39)		probably null	Het
Slc5a8	T	A	10: 88,740,774 (GRCm39)		probably null	Het
Slc9a8	A	G	2: 167,288,449 (GRCm39)	T183A	probably benign	Het
Sod3	A	T	5: 52,525,736 (GRCm39)	H145L	probably damaging	Het
Sp4	A	G	12: 118,263,341 (GRCm39)	V235A	probably damaging	Het
Spp1	A	C	5: 104,588,153 (GRCm39)	E185A	possibly damaging	Het
Susd1	A	T	4: 59,351,679 (GRCm39)	W461R	probably benign	Het
Svil	A	C	18: 5,095,516 (GRCm39)	K1124Q	probably damaging	Het
Tdrd12	A	T	7: 35,186,720 (GRCm39)		probably null	Het
Terb1	A	T	8: 105,221,795 (GRCm39)	N168K	probably benign	Het
Tnnt1	A	G	7: 4,510,573 (GRCm39)	L216P	probably damaging	Het
Ttc28	A	G	5: 111,424,121 (GRCm39)	K1463E	probably damaging	Het
Twf2	T	G	9: 106,089,098 (GRCm39)		probably null	Het
Urb1	C	T	16: 90,602,299 (GRCm39)	R90Q	probably damaging	Het
Wdr45b	A	T	11: 121,219,650 (GRCm39)	C299*	probably null	Het
Wrap73	A	G	4: 154,237,138 (GRCm39)	S54G	probably damaging	Het
Zeb2	T	C	2: 44,888,931 (GRCm39)	K323R	probably damaging	Het
Zfp410	T	C	12: 84,378,582 (GRCm39)	I302T	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
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
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'- TGGGTAGAGCTCACATTTGC -3'
(R):5'- CTCCACATCTAGGGCAAAGTCC -3'

Sequencing Primer
(F):5'- GCTCCCTGGTCCACTAGTG -3'
(R):5'- AACAGACCGCTGCAGGGATAC -3'

Posted On

2016-04-27