Mutagenetix > Incidental Mutation

Incidental Mutation 'R1843:Fbln2'

207419

Institutional Source

Beutler Lab

Gene Symbol

Fbln2

Ensembl Gene

ENSMUSG00000064080

Gene Name

fibulin 2

Synonyms

5730577E14Rik

MMRRC Submission

039868-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1843 (G1)

Quality Score

172

Status

Not validated

Chromosome

Chromosomal Location

91189442-91249522 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91242757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 819 (N819S)

Ref Sequence

ENSEMBL: ENSMUSP00000109126 (fasta)

Gene Model

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

AlphaFold

P37889

Predicted Effect

probably damaging
Transcript: ENSMUST00000041544
AA Change: N866S

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

SMART Domains

Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: N866S

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: N819S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
AA Change: N819S

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: ENSMUST00000134286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137029

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	C	T	8: 106,435,606 (GRCm39)	T88M	probably damaging	Het
9430038I01Rik	A	G	7: 136,978,795 (GRCm39)		probably benign	Het
Adgra3	A	C	5: 50,118,834 (GRCm39)	S905A	probably damaging	Het
Adgrv1	A	G	13: 81,692,652 (GRCm39)	Y1618H	probably damaging	Het
Anapc15-ps	T	C	10: 95,509,176 (GRCm39)	T26A	probably benign	Het
Ankrd13d	T	C	19: 4,321,623 (GRCm39)	K360E	probably damaging	Het
Anks1b	T	A	10: 90,348,751 (GRCm39)		probably null	Het
Apob	T	C	12: 8,057,602 (GRCm39)	F2028S	possibly damaging	Het
Arap3	G	A	18: 38,108,636 (GRCm39)	R1265W	probably damaging	Het
Arhgef37	A	G	18: 61,651,121 (GRCm39)	Y135H	probably damaging	Het
Armh3	A	C	19: 45,963,691 (GRCm39)	S42R	probably benign	Het
Atp1a1	T	C	3: 101,489,333 (GRCm39)	T760A	probably benign	Het
Cdc42bpb	T	A	12: 111,289,255 (GRCm39)	M497L	probably benign	Het
Ces5a	C	T	8: 94,240,859 (GRCm39)	V413M	probably damaging	Het
Chd5	A	T	4: 152,470,263 (GRCm39)	Y1903F	probably damaging	Het
Chd9	T	A	8: 91,737,422 (GRCm39)	N1500K	probably benign	Het
Chmp7	G	T	14: 69,957,248 (GRCm39)	D303E	probably benign	Het
Chrnb4	A	T	9: 54,942,102 (GRCm39)	Y391N	possibly damaging	Het
Crtc1	T	C	8: 70,840,802 (GRCm39)	T475A	probably benign	Het
Cyp2c69	A	G	19: 39,865,972 (GRCm39)	I207T	probably benign	Het
Dcp1a	A	G	14: 30,240,940 (GRCm39)	E250G	probably damaging	Het
Ddx20	T	C	3: 105,586,398 (GRCm39)	Q649R	probably benign	Het
Defb12	T	A	8: 19,162,754 (GRCm39)	K59N	probably damaging	Het
Dpy19l3	A	T	7: 35,429,185 (GRCm39)	I85N	probably damaging	Het
Duox2	C	T	2: 122,122,739 (GRCm39)		probably null	Het
Ebi3	T	A	17: 56,263,679 (GRCm39)	Y197N	probably damaging	Het
Emc1	G	A	4: 139,102,823 (GRCm39)	R994Q	probably benign	Het
Ercc6	G	T	14: 32,268,777 (GRCm39)	M530I	probably damaging	Het
Evl	T	A	12: 108,619,255 (GRCm39)	D70E	probably damaging	Het
Foxk2	A	G	11: 121,176,363 (GRCm39)	I170V	probably benign	Het
Gfm1	T	C	3: 67,342,943 (GRCm39)	V159A	probably damaging	Het
Gm10837	A	G	14: 122,728,177 (GRCm39)	T18A	unknown	Het
Gm12887	A	T	4: 121,479,227 (GRCm39)	V25E	probably damaging	Het
Hectd4	A	G	5: 121,435,243 (GRCm39)	H985R	possibly damaging	Het
Hsfy2	A	G	1: 56,675,791 (GRCm39)	Y249H	possibly damaging	Het
Hspg2	T	C	4: 137,272,878 (GRCm39)	V2639A	probably damaging	Het
Igf2r	A	G	17: 12,923,157 (GRCm39)		probably null	Het
Invs	T	A	4: 48,422,035 (GRCm39)	I889N	probably damaging	Het
Kcnq1	A	T	7: 142,736,857 (GRCm39)	M209L	probably benign	Het
Klra7	A	G	6: 130,206,957 (GRCm39)	I48T	possibly damaging	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrif1	T	A	3: 106,640,127 (GRCm39)	V404D	probably damaging	Het
Lrriq1	T	A	10: 103,063,034 (GRCm39)		probably null	Het
Lypd6	T	A	2: 50,078,774 (GRCm39)	I90N	possibly damaging	Het
Mbp	A	G	18: 82,602,247 (GRCm39)	D174G	probably damaging	Het
Megf9	G	T	4: 70,453,022 (GRCm39)	P13Q	probably damaging	Het
Myo15b	A	T	11: 115,760,412 (GRCm39)	T1155S	probably benign	Het
Nherf2	C	T	17: 24,860,693 (GRCm39)	S150N	possibly damaging	Het
Nlrp6	T	A	7: 140,503,006 (GRCm39)	C371S	probably damaging	Het
Nosip	T	A	7: 44,726,733 (GRCm39)		probably null	Het
Nox3	G	T	17: 3,720,153 (GRCm39)	P344H	probably damaging	Het
Nup210l	T	C	3: 90,079,393 (GRCm39)	V959A	probably damaging	Het
Or10d1	A	G	9: 39,484,031 (GRCm39)	Y175H	possibly damaging	Het
Or2b2b	C	A	13: 21,858,842 (GRCm39)	V91L	probably benign	Het
Or2k2	T	C	4: 58,785,384 (GRCm39)	I113V	probably benign	Het
Or5b119	A	G	19: 13,457,295 (GRCm39)	I89T	probably benign	Het
Or5k8	T	A	16: 58,644,440 (GRCm39)	I211F	probably damaging	Het
Osbpl3	A	C	6: 50,347,123 (GRCm39)	S25A	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Pax7	G	A	4: 139,511,802 (GRCm39)	R260C	probably damaging	Het
Pbrm1	A	T	14: 30,760,914 (GRCm39)	I224F	probably damaging	Het
Pcdh1	T	A	18: 38,325,278 (GRCm39)		probably null	Het
Pcnx1	T	C	12: 82,027,709 (GRCm39)	L1585P	probably damaging	Het
Pde4c	C	T	8: 71,200,599 (GRCm39)	H362Y	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pgm1	A	T	4: 99,818,675 (GRCm39)	Q90L	probably damaging	Het
Phlpp1	A	G	1: 106,271,235 (GRCm39)	H814R	probably benign	Het
Pknox2	A	T	9: 36,866,127 (GRCm39)	M5K	possibly damaging	Het
Pole	G	A	5: 110,478,701 (GRCm39)		probably null	Het
Polr1b	A	G	2: 128,944,886 (GRCm39)	I61V	probably benign	Het
Prelp	T	C	1: 133,842,495 (GRCm39)	K217E	probably damaging	Het
Prkce	C	T	17: 86,782,974 (GRCm39)	Q202*	probably null	Het
Psmd2	T	G	16: 20,475,332 (GRCm39)	M370R	probably benign	Het
Rimklb	A	T	6: 122,440,968 (GRCm39)	H68Q	probably damaging	Het
Rnasel	A	G	1: 153,630,420 (GRCm39)	D312G	possibly damaging	Het
Rxrg	A	T	1: 167,426,321 (GRCm39)	M1L	probably benign	Het
Scrn1	A	G	6: 54,499,826 (GRCm39)	F220L	possibly damaging	Het
Scyl3	A	G	1: 163,778,244 (GRCm39)	S461G	probably benign	Het
Serpina1c	T	A	12: 103,861,282 (GRCm39)	T411S	probably benign	Het
Serpinb6d	C	T	13: 33,855,364 (GRCm39)	P346L	probably benign	Het
Shld2	A	G	14: 33,989,760 (GRCm39)	I382T	probably benign	Het
Spg21	G	T	9: 65,372,618 (GRCm39)	V17F	probably damaging	Het
Spink5	A	T	18: 44,132,958 (GRCm39)	M525L	probably benign	Het
Sun2	T	C	15: 79,621,764 (GRCm39)	T155A	probably benign	Het
Tchh	T	A	3: 93,354,087 (GRCm39)	F1176I	unknown	Het
Tex15	T	A	8: 34,066,682 (GRCm39)	D2037E	probably benign	Het
Tfdp2	T	C	9: 96,199,857 (GRCm39)	C392R	possibly damaging	Het
Tmem30c	T	C	16: 57,097,143 (GRCm39)	N139S	probably benign	Het
Tns2	C	T	15: 102,021,568 (GRCm39)		probably null	Het
Trim66	T	C	7: 109,075,046 (GRCm39)	E405G	probably damaging	Het
Trpc4	T	A	3: 54,187,415 (GRCm39)	F456I	probably benign	Het
Tspo2	T	C	17: 48,755,818 (GRCm39)	D108G	possibly damaging	Het
Tyk2	A	T	9: 21,032,850 (GRCm39)	C304*	probably null	Het
Vgll4	A	T	6: 114,839,756 (GRCm39)	S185T	probably benign	Het
Vmn2r94	A	C	17: 18,464,732 (GRCm39)	S519R	probably benign	Het
Vmn2r96	T	G	17: 18,818,183 (GRCm39)	S587A	probably benign	Het
Vps4b	C	A	1: 106,706,712 (GRCm39)	A287S	possibly damaging	Het
Yeats2	C	T	16: 20,048,314 (GRCm39)	P1332S	probably benign	Het
Zfp462	T	G	4: 55,010,010 (GRCm39)	S659A	possibly damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp764l1	A	C	7: 126,990,660 (GRCm39)	D442E	probably benign	Het
Zswim5	G	T	4: 116,734,896 (GRCm39)	E80D	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- TCACACTGTAGTCAGCCCACTG -3'
(R):5'- ATTCACATCTGTGGGGCAGG -3'

Sequencing Primer
(F):5'- CTTCTGGAGGTGGGATTCTCAC -3'
(R):5'- ATCTGTGGGGCAGGCAAGC -3'

Posted On

2014-06-23