Mutagenetix > Incidental Mutation

Incidental Mutation 'R7779:Fbln2'

599069

Institutional Source

Beutler Lab

Gene Symbol

Fbln2

Ensembl Gene

ENSMUSG00000064080

Gene Name

fibulin 2

Synonyms

5730577E14Rik

MMRRC Submission

045835-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7779 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91189442-91249522 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91210176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 40 (L40Q)

Ref Sequence

ENSEMBL: ENSMUSP00000048334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041544] [ENSMUST00000113498] [ENSMUST00000132021] [ENSMUST00000134974] [ENSMUST00000153364]

AlphaFold

P37889

Predicted Effect

probably damaging
Transcript: ENSMUST00000041544
AA Change: L40Q

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

SMART Domains

Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: L40Q

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: L40Q

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

SMART Domains

Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
AA Change: L40Q

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 damaging
Transcript: ENSMUST00000132021
AA Change: L40Q

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

SMART Domains

Protein: ENSMUSP00000116456
Gene: ENSMUSG00000064080
AA Change: L40Q

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000134974
AA Change: L40Q

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

SMART Domains

Protein: ENSMUSP00000116302
Gene: ENSMUSG00000064080
AA Change: L40Q

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153364

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (92/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,101,316 (GRCm39)	V563E	probably damaging	Het
Adra1d	A	G	2: 131,403,805 (GRCm39)	V95A	probably damaging	Het
Ak7	A	C	12: 105,708,609 (GRCm39)	I355L	probably benign	Het
Ank1	G	A	8: 23,586,763 (GRCm39)		probably null	Het
Apol7c	A	T	15: 77,409,946 (GRCm39)	H333Q	probably damaging	Het
Arfgef3	T	C	10: 18,470,771 (GRCm39)	M1665V	probably damaging	Het
Arid5b	A	G	10: 67,932,606 (GRCm39)	Y1099H	probably damaging	Het
Atp8b1	A	G	18: 64,674,453 (GRCm39)	S943P	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Bco1	A	G	8: 117,844,135 (GRCm39)	Y283C	probably damaging	Het
Brd4	A	T	17: 32,431,910 (GRCm39)	D652E	probably benign	Het
Cacna1s	G	A	1: 136,046,767 (GRCm39)	A1799T	probably damaging	Het
Camsap3	A	G	8: 3,647,887 (GRCm39)	Y65C	probably damaging	Het
Capn1	T	C	19: 6,044,116 (GRCm39)	K535E	probably benign	Het
Cbl	A	G	9: 44,070,393 (GRCm39)	S480P	probably benign	Het
Cfap99	A	C	5: 34,469,008 (GRCm39)	N294T	probably benign	Het
Defa24	A	C	8: 22,225,355 (GRCm39)	S82R	probably benign	Het
Dnai2	T	C	11: 114,645,235 (GRCm39)	F557L	possibly damaging	Het
Dnhd1	T	A	7: 105,327,122 (GRCm39)	H690Q	probably benign	Het
Dock2	A	G	11: 34,605,282 (GRCm39)	V279A	probably benign	Het
Dst	T	A	1: 34,233,678 (GRCm39)	V3462E	probably damaging	Het
E2f3	T	G	13: 30,102,598 (GRCm39)	H221P	probably damaging	Het
Eif2b4	A	T	5: 31,347,998 (GRCm39)	I238N	probably damaging	Het
Eno4	T	C	19: 58,956,975 (GRCm39)	S530P	probably benign	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Etl4	C	T	2: 20,714,288 (GRCm39)	T129I	probably damaging	Het
Extl1	A	G	4: 134,085,014 (GRCm39)	F652S	probably damaging	Het
Extl1	T	C	4: 134,087,908 (GRCm39)	K449E	probably benign	Het
F13b	T	A	1: 139,444,124 (GRCm39)	V486E	probably benign	Het
Glp2r	C	T	11: 67,600,609 (GRCm39)	W413*	probably null	Het
Grin2b	A	T	6: 135,755,792 (GRCm39)	Y507*	probably null	Het
H2-M11	G	T	17: 36,859,698 (GRCm39)	L230F	probably benign	Het
Il36a	T	C	2: 24,106,613 (GRCm39)	Y66H	probably damaging	Het
Itpr1	A	G	6: 108,500,309 (GRCm39)	E2634G	possibly damaging	Het
Itpr3	A	T	17: 27,315,037 (GRCm39)	Y728F	probably damaging	Het
Jak1	C	T	4: 101,017,339 (GRCm39)	E764K	probably benign	Het
Jak3	G	T	8: 72,139,932 (GRCm39)	R1045L	probably benign	Het
Jam2	T	C	16: 84,606,271 (GRCm39)	I95T	probably damaging	Het
Kdf1	T	C	4: 133,255,796 (GRCm39)	V171A	probably damaging	Het
Lactbl1	A	T	4: 136,358,307 (GRCm39)	K93*	probably null	Het
Lcn6	T	C	2: 25,570,805 (GRCm39)	V131A	probably benign	Het
Lpar5	T	A	6: 125,059,207 (GRCm39)	D309E	probably damaging	Het
Lrfn4	T	C	19: 4,663,715 (GRCm39)	E273G	probably damaging	Het
Lta4h	C	T	10: 93,310,811 (GRCm39)	T447I	probably benign	Het
Lyst	A	G	13: 13,809,128 (GRCm39)	E266G	probably damaging	Het
Mab21l1	A	T	3: 55,690,796 (GRCm39)	I128F	possibly damaging	Het
Mrgprb4	T	G	7: 47,848,895 (GRCm39)	N11T	probably benign	Het
Mroh6	G	A	15: 75,760,505 (GRCm39)	T23I	possibly damaging	Het
Myo1f	T	C	17: 33,797,247 (GRCm39)	I143T	probably benign	Het
Myof	C	T	19: 37,927,838 (GRCm39)	D1092N	probably damaging	Het
Ncan	G	T	8: 70,567,661 (GRCm39)	D150E	probably damaging	Het
Or1d2	T	A	11: 74,255,771 (GRCm39)	I92N	probably damaging	Het
Or2y1f	T	A	11: 49,185,048 (GRCm39)	L300Q	probably damaging	Het
Or6c88	A	T	10: 129,407,180 (GRCm39)	I219F	probably damaging	Het
Pcm1	A	G	8: 41,782,061 (GRCm39)	Y1948C	probably damaging	Het
Pcsk6	A	T	7: 65,675,152 (GRCm39)	T669S	probably benign	Het
Pdlim5	A	C	3: 141,948,447 (GRCm39)	N613K	probably benign	Het
Pdzk1	T	A	3: 96,764,589 (GRCm39)	V291D	probably damaging	Het
Plbd2	T	C	5: 120,625,743 (GRCm39)	Q408R	probably damaging	Het
Ppp1r37	C	A	7: 19,266,712 (GRCm39)	A392S	possibly damaging	Het
Proser2	T	A	2: 6,107,878 (GRCm39)		probably null	Het
Psmd12	T	C	11: 107,388,405 (GRCm39)	V406A	probably benign	Het
Rab3gap2	T	C	1: 184,991,641 (GRCm39)	V709A	probably damaging	Het
Radil	T	C	5: 142,473,320 (GRCm39)	E787G	probably benign	Het
Rai14	A	C	15: 10,593,112 (GRCm39)	D177E	probably damaging	Het
Rbms2	G	A	10: 127,979,315 (GRCm39)	T166I	probably damaging	Het
Rrh	C	T	3: 129,608,969 (GRCm39)	C115Y	probably benign	Het
Slc1a6	C	T	10: 78,631,789 (GRCm39)	T205I	probably damaging	Het
Sost	T	C	11: 101,857,675 (GRCm39)	E42G	possibly damaging	Het
Spcs3	T	A	8: 54,982,805 (GRCm39)	I46F	possibly damaging	Het
Spg11	A	G	2: 121,901,420 (GRCm39)	S1507P	probably damaging	Het
Sprtn	C	T	8: 125,624,982 (GRCm39)	P29L	possibly damaging	Het
Sptan1	C	T	2: 29,911,319 (GRCm39)	T1886I	probably damaging	Het
Strn4	T	C	7: 16,565,417 (GRCm39)	F394S	probably damaging	Het
Syt14	A	T	1: 192,666,751 (GRCm39)	M51K	unknown	Het
Terb2	A	G	2: 122,016,975 (GRCm39)	K32R	probably benign	Het
Tex15	G	A	8: 34,065,309 (GRCm39)	G1580R	probably damaging	Het
Thumpd3	T	C	6: 113,036,950 (GRCm39)	V283A	probably damaging	Het
Tm7sf2	T	C	19: 6,112,947 (GRCm39)	Y418C	possibly damaging	Het
Trim24	T	G	6: 37,896,332 (GRCm39)	F263C	probably damaging	Het
Trim24	T	A	6: 37,896,333 (GRCm39)	F263L	probably damaging	Het
Trip11	A	G	12: 101,849,796 (GRCm39)	S1423P	probably damaging	Het
Vps13c	G	A	9: 67,788,704 (GRCm39)	V326M	probably damaging	Het
Vps37c	T	C	19: 10,689,988 (GRCm39)	V150A	probably damaging	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Wfdc9	A	G	2: 164,492,516 (GRCm39)	V37A	probably damaging	Het
Yif1b	T	A	7: 28,945,328 (GRCm39)	M227K	probably damaging	Het
Zbtb18	T	C	1: 177,274,505 (GRCm39)		probably benign	Het
Zfp318	A	G	17: 46,710,820 (GRCm39)	T848A	probably benign	Het
Zfp808	T	A	13: 62,320,571 (GRCm39)	I600K	possibly damaging	Het
Zmym1	C	A	4: 126,948,038 (GRCm39)	S111I	probably benign	Het
Zmym2	A	G	14: 57,165,740 (GRCm39)	T688A	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
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
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
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'- CTCTATGTCCTTAGTGTGACAGGC -3'
(R):5'- TCAGGGCACAGCATGAACTG -3'

Sequencing Primer
(F):5'- AGTGTGACAGGCTTCCTCTCTG -3'
(R):5'- CATGAACTGGCAGCTGATCTTGC -3'

Posted On

2019-11-26