Incidental Mutation 'R6657:Fbln2'
| ID |
526658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbln2
|
| Ensembl Gene |
ENSMUSG00000064080 |
| Gene Name |
fibulin 2 |
| Synonyms |
5730577E14Rik |
| MMRRC Submission |
044778-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6657 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91189442-91249522 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91236732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 749
(N749S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041544]
[ENSMUST00000113498]
|
| AlphaFold |
P37889 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041544
AA Change: N749S
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: N749S
| 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 benign
Transcript: ENSMUST00000113498
|
| SMART Domains |
Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
| 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: ENSMUST00000147371
|
| Meta Mutation Damage Score |
0.0796 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
98% (48/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
T |
G |
8: 106,435,450 (GRCm39) |
L36R |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Akr1b7 |
A |
C |
6: 34,393,135 (GRCm39) |
D106A |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Chst5 |
C |
T |
8: 112,616,906 (GRCm39) |
R238Q |
probably benign |
Het |
| Cpxm2 |
T |
C |
7: 131,650,806 (GRCm39) |
Y618C |
probably damaging |
Het |
| Csnk1d |
T |
C |
11: 120,855,820 (GRCm39) |
E405G |
possibly damaging |
Het |
| Ctsh |
A |
T |
9: 89,942,555 (GRCm39) |
M37L |
probably benign |
Het |
| Eml5 |
T |
G |
12: 98,757,664 (GRCm39) |
I1843L |
probably damaging |
Het |
| Ep400 |
C |
A |
5: 110,841,411 (GRCm39) |
|
probably benign |
Het |
| Gpc5 |
A |
G |
14: 115,607,610 (GRCm39) |
H404R |
probably benign |
Het |
| Hyal6 |
A |
G |
6: 24,734,757 (GRCm39) |
D230G |
possibly damaging |
Het |
| Itga5 |
T |
C |
15: 103,259,222 (GRCm39) |
D735G |
probably damaging |
Het |
| Kansl2 |
T |
A |
15: 98,422,551 (GRCm39) |
Q339L |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,322,398 (GRCm39) |
M1078K |
probably benign |
Het |
| Mmp24 |
A |
T |
2: 155,640,099 (GRCm39) |
Y143F |
probably damaging |
Het |
| Mroh7 |
A |
T |
4: 106,559,697 (GRCm39) |
C743* |
probably null |
Het |
| Myh14 |
T |
C |
7: 44,287,270 (GRCm39) |
N618D |
probably damaging |
Het |
| Myo19 |
A |
T |
11: 84,788,022 (GRCm39) |
M324L |
probably benign |
Het |
| Nectin2 |
T |
C |
7: 19,472,065 (GRCm39) |
N108S |
probably benign |
Het |
| Nrg2 |
A |
G |
18: 36,329,642 (GRCm39) |
I191T |
probably damaging |
Het |
| Odf4 |
T |
C |
11: 68,817,638 (GRCm39) |
N18D |
probably benign |
Het |
| Or5aq6 |
T |
A |
2: 86,923,403 (GRCm39) |
I113F |
probably benign |
Het |
| Pcsk2 |
T |
G |
2: 143,532,286 (GRCm39) |
L145V |
probably damaging |
Het |
| Pdzrn3 |
C |
A |
6: 101,127,983 (GRCm39) |
Q894H |
probably benign |
Het |
| Pfpl |
G |
A |
19: 12,407,290 (GRCm39) |
V514I |
probably benign |
Het |
| Plbd1 |
A |
T |
6: 136,594,250 (GRCm39) |
M333K |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,062,356 (GRCm39) |
M2554K |
possibly damaging |
Het |
| Psmb5 |
A |
G |
14: 54,851,840 (GRCm39) |
Y115H |
possibly damaging |
Het |
| Rictor |
A |
G |
15: 6,788,977 (GRCm39) |
N198D |
possibly damaging |
Het |
| Rsrc2 |
A |
G |
5: 123,877,630 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
C |
T |
2: 26,315,876 (GRCm39) |
W262* |
probably null |
Het |
| Sfmbt1 |
A |
G |
14: 30,488,053 (GRCm39) |
D8G |
possibly damaging |
Het |
| Sptbn5 |
T |
G |
2: 119,906,881 (GRCm39) |
|
probably benign |
Het |
| Sqor |
A |
G |
2: 122,649,514 (GRCm39) |
D139G |
possibly damaging |
Het |
| Sugt1 |
A |
T |
14: 79,844,701 (GRCm39) |
T139S |
probably benign |
Het |
| Tcp11 |
G |
A |
17: 28,290,646 (GRCm39) |
P159S |
probably damaging |
Het |
| Tmem262 |
A |
G |
19: 6,130,542 (GRCm39) |
T89A |
possibly damaging |
Het |
| Tnfaip6 |
C |
A |
2: 51,933,795 (GRCm39) |
T50N |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,826,182 (GRCm39) |
Y131H |
probably damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,320 (GRCm39) |
M185K |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r52 |
G |
A |
7: 9,893,090 (GRCm39) |
T683I |
probably damaging |
Het |
| Vps53 |
A |
T |
11: 76,025,253 (GRCm39) |
I197N |
probably damaging |
Het |
| Washc4 |
T |
A |
10: 83,394,482 (GRCm39) |
F269L |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,769,208 (GRCm39) |
V2086M |
possibly damaging |
Het |
| Zfp592 |
A |
T |
7: 80,675,234 (GRCm39) |
T733S |
possibly damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,538 (GRCm39) |
F209S |
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 |
|
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'- TGGGTCTAAGGTTCAGCTGC -3'
(R):5'- GAGGGTATGACACAGAGCTC -3'
Sequencing Primer
(F):5'- AGGCGCACACAGGTTCTTTATC -3'
(R):5'- TATGACACAGAGCTCGGCAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation