Incidental Mutation 'R4877:Fbln2'
ID |
374986 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbln2
|
Ensembl Gene |
ENSMUSG00000064080 |
Gene Name |
fibulin 2 |
Synonyms |
5730577E14Rik |
MMRRC Submission |
042486-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4877 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
91189442-91249522 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 91210477 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 140
(H140Q)
|
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: H140Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048334 Gene: ENSMUSG00000064080 AA Change: H140Q
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: H140Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109126 Gene: ENSMUSG00000064080 AA Change: H140Q
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
|
Meta Mutation Damage Score |
0.2213 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
100% (76/76) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,258,421 (GRCm39) |
Y475H |
probably damaging |
Het |
Adamts12 |
G |
T |
15: 11,327,787 (GRCm39) |
G1388V |
probably damaging |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Arhgap26 |
T |
C |
18: 39,429,982 (GRCm39) |
|
probably null |
Het |
Atp7b |
T |
A |
8: 22,518,617 (GRCm39) |
I74F |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,977,337 (GRCm39) |
Y1326H |
probably benign |
Het |
Card11 |
T |
C |
5: 140,871,632 (GRCm39) |
S690G |
probably damaging |
Het |
Cbx3 |
A |
G |
6: 51,459,540 (GRCm39) |
E169G |
possibly damaging |
Het |
Cd28 |
A |
T |
1: 60,808,861 (GRCm39) |
M192L |
possibly damaging |
Het |
Chd6 |
T |
C |
2: 160,871,219 (GRCm39) |
|
probably benign |
Het |
Cyp2c69 |
C |
T |
19: 39,866,056 (GRCm39) |
C179Y |
probably damaging |
Het |
Cyp7b1 |
A |
T |
3: 18,151,457 (GRCm39) |
V252E |
probably damaging |
Het |
Dcp2 |
G |
T |
18: 44,550,659 (GRCm39) |
G378C |
probably benign |
Het |
Dip2b |
A |
T |
15: 100,058,410 (GRCm39) |
I196L |
possibly damaging |
Het |
Erbin |
G |
A |
13: 103,987,346 (GRCm39) |
P405S |
probably damaging |
Het |
Etv1 |
A |
G |
12: 38,881,292 (GRCm39) |
|
probably null |
Het |
F830104G03Rik |
T |
G |
3: 56,797,917 (GRCm39) |
K33T |
unknown |
Het |
Fxr1 |
A |
G |
3: 34,101,847 (GRCm39) |
T109A |
probably damaging |
Het |
Gm10110 |
T |
C |
14: 90,134,785 (GRCm39) |
|
noncoding transcript |
Het |
Gm9949 |
C |
T |
18: 62,317,140 (GRCm39) |
|
probably benign |
Het |
Grin2d |
A |
G |
7: 45,504,039 (GRCm39) |
L604P |
probably damaging |
Het |
Gstcd |
A |
T |
3: 132,711,314 (GRCm39) |
|
probably benign |
Het |
Ifna16 |
A |
G |
4: 88,594,681 (GRCm39) |
V138A |
probably benign |
Het |
Itpr2 |
T |
A |
6: 146,226,703 (GRCm39) |
N1314I |
probably damaging |
Het |
Kitl |
T |
C |
10: 99,916,728 (GRCm39) |
V177A |
probably damaging |
Het |
L3mbtl1 |
A |
T |
2: 162,790,488 (GRCm39) |
Q185L |
probably damaging |
Het |
Lhx9 |
T |
A |
1: 138,766,092 (GRCm39) |
N232I |
probably benign |
Het |
Lnx1 |
T |
C |
5: 74,788,784 (GRCm39) |
R111G |
probably benign |
Het |
Lrrc41 |
A |
G |
4: 115,936,602 (GRCm39) |
I72M |
probably damaging |
Het |
Lrriq1 |
T |
A |
10: 103,069,899 (GRCm39) |
D39V |
possibly damaging |
Het |
Lyrm7 |
A |
G |
11: 54,731,936 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
A |
13: 13,857,734 (GRCm39) |
Y2508N |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,687,328 (GRCm39) |
Y70F |
probably benign |
Het |
Mc4r |
T |
C |
18: 66,992,409 (GRCm39) |
I235V |
probably benign |
Het |
Med12l |
G |
A |
3: 59,152,214 (GRCm39) |
V1000M |
probably damaging |
Het |
Morc2b |
T |
C |
17: 33,357,712 (GRCm39) |
H20R |
probably benign |
Het |
Ms4a1 |
A |
T |
19: 11,231,857 (GRCm39) |
S173T |
probably damaging |
Het |
Myh13 |
A |
C |
11: 67,228,477 (GRCm39) |
D339A |
probably damaging |
Het |
Nars1 |
A |
T |
18: 64,633,643 (GRCm39) |
Y542* |
probably null |
Het |
Nectin2 |
G |
A |
7: 19,451,645 (GRCm39) |
T463I |
possibly damaging |
Het |
Nrg4 |
A |
G |
9: 55,166,679 (GRCm39) |
F64L |
probably benign |
Het |
Nrxn1 |
T |
A |
17: 91,395,605 (GRCm39) |
I184F |
probably benign |
Het |
Nxph2 |
C |
T |
2: 23,289,846 (GRCm39) |
P66L |
probably benign |
Het |
Or10ag2 |
C |
T |
2: 87,248,907 (GRCm39) |
Q170* |
probably null |
Het |
Or2v1 |
C |
A |
11: 49,025,608 (GRCm39) |
F196L |
probably damaging |
Het |
Pard3 |
A |
T |
8: 128,115,018 (GRCm39) |
T579S |
probably damaging |
Het |
Patj |
A |
G |
4: 98,457,295 (GRCm39) |
I48V |
possibly damaging |
Het |
Paxbp1 |
T |
C |
16: 90,841,199 (GRCm39) |
|
probably benign |
Het |
Pou2f3 |
A |
T |
9: 43,050,618 (GRCm39) |
N235K |
possibly damaging |
Het |
Ppp2r2c |
A |
G |
5: 37,026,214 (GRCm39) |
D17G |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,568,633 (GRCm39) |
|
probably benign |
Het |
Rnd3 |
A |
G |
2: 51,038,762 (GRCm39) |
V42A |
probably damaging |
Het |
Rp1l1 |
A |
G |
14: 64,263,620 (GRCm39) |
R247G |
probably benign |
Het |
Sec31b |
A |
T |
19: 44,524,172 (GRCm39) |
V156D |
probably damaging |
Het |
Slc22a2 |
T |
A |
17: 12,833,702 (GRCm39) |
Y461N |
possibly damaging |
Het |
Spag6l |
T |
C |
16: 16,599,622 (GRCm39) |
K280R |
possibly damaging |
Het |
Spata31d1a |
A |
G |
13: 59,850,337 (GRCm39) |
L597P |
probably damaging |
Het |
Srr |
G |
T |
11: 74,798,606 (GRCm39) |
|
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,864 (GRCm39) |
Q265H |
unknown |
Het |
Tgif1 |
A |
C |
17: 71,156,700 (GRCm39) |
|
probably null |
Het |
Tle3 |
A |
T |
9: 61,280,781 (GRCm39) |
|
probably benign |
Het |
Tubgcp4 |
A |
G |
2: 121,020,343 (GRCm39) |
T439A |
probably benign |
Het |
Twist1 |
C |
T |
12: 34,008,350 (GRCm39) |
T125M |
probably damaging |
Het |
Unc13a |
T |
A |
8: 72,111,260 (GRCm39) |
D317V |
possibly damaging |
Het |
Vmn1r227 |
T |
A |
17: 20,955,407 (GRCm39) |
|
noncoding transcript |
Het |
Vps72 |
G |
T |
3: 95,025,498 (GRCm39) |
|
probably benign |
Het |
Zfp184 |
T |
C |
13: 22,144,498 (GRCm39) |
S735P |
possibly damaging |
Het |
Zfp42 |
A |
T |
8: 43,748,725 (GRCm39) |
C259S |
possibly damaging |
Het |
Zmiz2 |
A |
G |
11: 6,353,251 (GRCm39) |
H678R |
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 |
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'- GCGAAGGCTACCAGTACTAC -3'
(R):5'- CTGTAGGGGTCTTCATACTGC -3'
Sequencing Primer
(F):5'- GAAGGCTACCAGTACTACGACTG -3'
(R):5'- GGGTCTTCATACTGCCTCTCAGAG -3'
|
Posted On |
2016-03-17 |