Incidental Mutation 'R5838:Fbln2'
ID |
449718 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbln2
|
Ensembl Gene |
ENSMUSG00000064080 |
Gene Name |
fibulin 2 |
Synonyms |
5730577E14Rik |
MMRRC Submission |
044058-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5838 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
91189442-91249522 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91248830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 1165
(M1165T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041544]
[ENSMUST00000113498]
|
AlphaFold |
P37889 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041544
AA Change: M1212T
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000048334 Gene: ENSMUSG00000064080 AA Change: M1212T
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: M1165T
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109126 Gene: ENSMUSG00000064080 AA Change: M1165T
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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
G |
A |
11: 105,863,706 (GRCm39) |
V385I |
probably benign |
Het |
Apmap |
T |
C |
2: 150,427,777 (GRCm39) |
Y315C |
probably damaging |
Het |
Arhgef12 |
G |
A |
9: 42,916,904 (GRCm39) |
T414I |
probably damaging |
Het |
Cd200r1 |
C |
A |
16: 44,586,397 (GRCm39) |
A9D |
possibly damaging |
Het |
Cdkal1 |
T |
C |
13: 29,875,669 (GRCm39) |
D183G |
probably benign |
Het |
Clk1 |
C |
A |
1: 58,451,819 (GRCm39) |
C432F |
probably damaging |
Het |
Col27a1 |
G |
T |
4: 63,143,765 (GRCm39) |
L484F |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,807,211 (GRCm39) |
E2480G |
unknown |
Het |
Dnah5 |
A |
G |
15: 28,290,341 (GRCm39) |
I1244V |
probably benign |
Het |
Dock3 |
G |
T |
9: 106,772,687 (GRCm39) |
P522Q |
possibly damaging |
Het |
Drc1 |
T |
A |
5: 30,523,857 (GRCm39) |
|
probably null |
Het |
Epas1 |
C |
T |
17: 87,131,114 (GRCm39) |
T298I |
possibly damaging |
Het |
Epha1 |
A |
T |
6: 42,338,580 (GRCm39) |
I699N |
probably damaging |
Het |
Ephb3 |
T |
C |
16: 21,040,437 (GRCm39) |
S558P |
probably damaging |
Het |
Epn1 |
T |
A |
7: 5,100,165 (GRCm39) |
L426* |
probably null |
Het |
Fam234b |
T |
C |
6: 135,202,265 (GRCm39) |
V329A |
probably benign |
Het |
Fasn |
G |
T |
11: 120,706,950 (GRCm39) |
R901S |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,893,913 (GRCm39) |
R103G |
probably benign |
Het |
G6pd2 |
T |
A |
5: 61,966,568 (GRCm39) |
D114E |
probably benign |
Het |
Galnt10 |
A |
G |
11: 57,671,882 (GRCm39) |
K391E |
probably damaging |
Het |
Gpr150 |
C |
A |
13: 76,204,045 (GRCm39) |
C300F |
probably benign |
Het |
Hhipl2 |
A |
G |
1: 183,204,479 (GRCm39) |
T151A |
probably damaging |
Het |
Hmcn2 |
C |
A |
2: 31,347,819 (GRCm39) |
L4822M |
probably damaging |
Het |
Ifi207 |
T |
A |
1: 173,559,953 (GRCm39) |
Q173L |
unknown |
Het |
Inca1 |
T |
C |
11: 70,580,707 (GRCm39) |
E86G |
probably damaging |
Het |
Iqca1 |
A |
G |
1: 90,072,667 (GRCm39) |
L71P |
probably benign |
Het |
Kank2 |
G |
T |
9: 21,706,689 (GRCm39) |
Q110K |
probably damaging |
Het |
Katnip |
A |
T |
7: 125,466,827 (GRCm39) |
M1361L |
possibly damaging |
Het |
Kif13b |
A |
T |
14: 64,975,004 (GRCm39) |
M407L |
probably damaging |
Het |
Kif5a |
A |
C |
10: 127,081,310 (GRCm39) |
I208S |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,489,469 (GRCm39) |
K4490R |
probably damaging |
Het |
Ltbp2 |
C |
T |
12: 84,835,875 (GRCm39) |
R1352H |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,345,947 (GRCm39) |
Q2061R |
possibly damaging |
Het |
Marcks |
A |
G |
10: 37,012,163 (GRCm39) |
S291P |
probably benign |
Het |
Mccc1 |
A |
G |
3: 36,039,231 (GRCm39) |
V254A |
possibly damaging |
Het |
Mdn1 |
C |
T |
4: 32,754,547 (GRCm39) |
R4683W |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,846,397 (GRCm39) |
|
probably null |
Het |
Ndrg4 |
A |
T |
8: 96,433,421 (GRCm39) |
H134L |
probably damaging |
Het |
Nek7 |
C |
A |
1: 138,462,101 (GRCm39) |
|
probably null |
Het |
Nlrc3 |
C |
T |
16: 3,771,859 (GRCm39) |
S151N |
probably damaging |
Het |
Nsl1 |
C |
A |
1: 190,802,310 (GRCm39) |
A146E |
probably benign |
Het |
Or10a3n |
A |
T |
7: 108,493,292 (GRCm39) |
F107L |
probably benign |
Het |
Or2y1e |
A |
C |
11: 49,218,760 (GRCm39) |
N174T |
probably damaging |
Het |
Or52ac1 |
A |
G |
7: 104,246,104 (GRCm39) |
Y95H |
probably benign |
Het |
Or5b120 |
T |
A |
19: 13,479,922 (GRCm39) |
Y72N |
probably damaging |
Het |
Or6c210 |
A |
T |
10: 129,495,907 (GRCm39) |
R77S |
probably benign |
Het |
Pde4d |
A |
C |
13: 109,876,976 (GRCm39) |
S41R |
probably damaging |
Het |
Phlpp1 |
T |
A |
1: 106,274,862 (GRCm39) |
L875* |
probably null |
Het |
Pkd1 |
T |
A |
17: 24,799,186 (GRCm39) |
S2802T |
possibly damaging |
Het |
Polr3b |
A |
G |
10: 84,510,454 (GRCm39) |
T500A |
probably benign |
Het |
Ppp2r2c |
T |
C |
5: 37,097,531 (GRCm39) |
V239A |
probably benign |
Het |
Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
Reln |
T |
A |
5: 22,104,111 (GRCm39) |
I3287F |
probably damaging |
Het |
Scube2 |
T |
C |
7: 109,407,651 (GRCm39) |
D763G |
probably damaging |
Het |
Setd5 |
T |
C |
6: 113,096,396 (GRCm39) |
V534A |
probably benign |
Het |
Slc10a4 |
T |
A |
5: 73,169,373 (GRCm39) |
C333S |
probably benign |
Het |
Slc15a1 |
G |
A |
14: 121,722,283 (GRCm39) |
A206V |
probably damaging |
Het |
Snx14 |
A |
G |
9: 88,273,829 (GRCm39) |
L654P |
probably damaging |
Het |
Sowahc |
G |
A |
10: 59,059,012 (GRCm39) |
A383T |
possibly damaging |
Het |
Taf1b |
A |
G |
12: 24,550,448 (GRCm39) |
D11G |
possibly damaging |
Het |
Tap1 |
C |
T |
17: 34,412,279 (GRCm39) |
Q164* |
probably null |
Het |
Tbcel |
T |
A |
9: 42,327,168 (GRCm39) |
R430W |
probably damaging |
Het |
Trappc11 |
A |
T |
8: 47,965,594 (GRCm39) |
|
probably null |
Het |
Trim15 |
T |
C |
17: 37,173,732 (GRCm39) |
I259V |
probably damaging |
Het |
Trpt1 |
T |
C |
19: 6,975,668 (GRCm39) |
S141P |
probably damaging |
Het |
Tsc2 |
T |
A |
17: 24,832,190 (GRCm39) |
Q732L |
probably benign |
Het |
Tstd3 |
C |
A |
4: 21,759,622 (GRCm39) |
|
probably null |
Het |
Unc13d |
T |
C |
11: 115,955,451 (GRCm39) |
K914R |
possibly damaging |
Het |
Unk |
A |
G |
11: 115,940,157 (GRCm39) |
E170G |
probably damaging |
Het |
Uqcc2 |
T |
A |
17: 27,344,860 (GRCm39) |
K62* |
probably null |
Het |
Vim |
A |
G |
2: 13,585,001 (GRCm39) |
D394G |
probably damaging |
Het |
Wdr47 |
G |
A |
3: 108,532,052 (GRCm39) |
|
probably null |
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 |
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'- GACCATCACGAAGGGCAATG -3'
(R):5'- TTGCAGGTCACCATCTAGC -3'
Sequencing Primer
(F):5'- CAATGAGGAGGGCTACTTCGTCAC -3'
(R):5'- CTGTACTCAGTGCCTGCTGG -3'
|
Posted On |
2016-12-20 |