Incidental Mutation 'R5681:Fbln2'
| ID |
443034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbln2
|
| Ensembl Gene |
ENSMUSG00000064080 |
| Gene Name |
fibulin 2 |
| Synonyms |
5730577E14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5681 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
91189442-91249522 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 91248778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1148
(V1148L)
|
| 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: V1195L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: V1195L
| 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: V1148L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
AA Change: V1148L
| 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: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
C |
2: 127,814,559 (GRCm39) |
F45S |
possibly damaging |
Het |
| Adora2b |
T |
A |
11: 62,140,067 (GRCm39) |
V47E |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,375,014 (GRCm39) |
I396T |
probably damaging |
Het |
| Arhgap5 |
G |
A |
12: 52,566,562 (GRCm39) |
D1178N |
probably benign |
Het |
| Atp10d |
T |
C |
5: 72,404,289 (GRCm39) |
|
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,468,347 (GRCm39) |
S264P |
probably damaging |
Het |
| Brinp3 |
A |
T |
1: 146,777,484 (GRCm39) |
I644F |
probably benign |
Het |
| Ccdc168 |
A |
T |
1: 44,100,624 (GRCm39) |
V158D |
possibly damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,208,698 (GRCm39) |
R675G |
probably benign |
Het |
| Cnr2 |
T |
G |
4: 135,644,000 (GRCm39) |
M26R |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,445,085 (GRCm39) |
|
probably null |
Het |
| Cux1 |
A |
G |
5: 136,337,038 (GRCm39) |
W696R |
probably damaging |
Het |
| D6Ertd527e |
A |
G |
6: 87,088,188 (GRCm39) |
N117S |
unknown |
Het |
| Dnah12 |
T |
C |
14: 26,537,452 (GRCm39) |
C2234R |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Dock2 |
T |
G |
11: 34,199,836 (GRCm39) |
I1405L |
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,416,270 (GRCm39) |
F724L |
probably damaging |
Het |
| Elapor2 |
T |
A |
5: 9,509,308 (GRCm39) |
|
probably null |
Het |
| Enoph1 |
T |
C |
5: 100,210,136 (GRCm39) |
|
probably null |
Het |
| Epha10 |
A |
T |
4: 124,796,359 (GRCm39) |
Q356L |
unknown |
Het |
| Firrm |
T |
C |
1: 163,789,654 (GRCm39) |
N627S |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,051,517 (GRCm39) |
V233M |
possibly damaging |
Het |
| Gtf2ird1 |
T |
A |
5: 134,392,172 (GRCm39) |
S800C |
probably damaging |
Het |
| Hat1 |
A |
G |
2: 71,264,553 (GRCm39) |
|
probably null |
Het |
| Hpdl |
A |
T |
4: 116,678,039 (GRCm39) |
S141T |
probably benign |
Het |
| Klhl29 |
A |
G |
12: 5,140,669 (GRCm39) |
S658P |
possibly damaging |
Het |
| Lifr |
T |
A |
15: 7,220,565 (GRCm39) |
I1065N |
probably damaging |
Het |
| Lrrn2 |
G |
T |
1: 132,864,899 (GRCm39) |
|
probably benign |
Het |
| Marchf9 |
T |
A |
10: 126,894,172 (GRCm39) |
I144F |
probably benign |
Het |
| Mtnr1a |
A |
G |
8: 45,540,974 (GRCm39) |
I312V |
possibly damaging |
Het |
| Ngf |
T |
A |
3: 102,427,669 (GRCm39) |
F139L |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,330,866 (GRCm39) |
I2318V |
probably benign |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Nphs1 |
A |
G |
7: 30,186,050 (GRCm39) |
D1227G |
probably benign |
Het |
| Olfm3 |
C |
A |
3: 114,915,924 (GRCm39) |
N285K |
probably benign |
Het |
| Or1j1 |
C |
A |
2: 36,702,693 (GRCm39) |
S137I |
probably benign |
Het |
| Or4f60 |
T |
A |
2: 111,902,722 (GRCm39) |
I69F |
probably benign |
Het |
| Or7g35 |
G |
A |
9: 19,496,195 (GRCm39) |
D121N |
probably damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,091 (GRCm39) |
Y259H |
probably damaging |
Het |
| Or8b39 |
C |
T |
9: 37,996,927 (GRCm39) |
S265F |
possibly damaging |
Het |
| Osbp2 |
A |
G |
11: 3,813,486 (GRCm39) |
S128P |
probably benign |
Het |
| Otop2 |
A |
T |
11: 115,217,685 (GRCm39) |
M174L |
probably damaging |
Het |
| Pard3 |
A |
G |
8: 128,115,914 (GRCm39) |
T668A |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,617,685 (GRCm39) |
T967A |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,669,065 (GRCm39) |
V52A |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,884,643 (GRCm39) |
K64R |
probably damaging |
Het |
| Pxn |
T |
C |
5: 115,682,593 (GRCm39) |
W69R |
possibly damaging |
Het |
| Rai14 |
T |
C |
15: 10,575,206 (GRCm39) |
D584G |
probably damaging |
Het |
| Safb |
G |
A |
17: 56,906,000 (GRCm39) |
|
probably benign |
Het |
| Serinc2 |
A |
C |
4: 130,158,869 (GRCm39) |
L10R |
probably damaging |
Het |
| Serpinb12 |
A |
T |
1: 106,874,431 (GRCm39) |
H52L |
probably benign |
Het |
| Serpinb9h |
G |
A |
13: 33,579,812 (GRCm39) |
C20Y |
probably damaging |
Het |
| Serpinf2 |
A |
G |
11: 75,326,765 (GRCm39) |
Y273H |
probably damaging |
Het |
| Slc2a10 |
T |
A |
2: 165,356,660 (GRCm39) |
S107T |
probably benign |
Het |
| Slc41a3 |
T |
C |
6: 90,617,928 (GRCm39) |
L318P |
probably damaging |
Het |
| Slc6a3 |
A |
T |
13: 73,686,854 (GRCm39) |
I74F |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,067,055 (GRCm39) |
G788D |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,640,272 (GRCm39) |
I79T |
probably benign |
Het |
| Sox11 |
G |
T |
12: 27,391,823 (GRCm39) |
D195E |
probably benign |
Het |
| Ssc4d |
A |
G |
5: 135,999,074 (GRCm39) |
L43P |
probably damaging |
Het |
| Tab2 |
A |
G |
10: 7,795,837 (GRCm39) |
I215T |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,660,942 (GRCm39) |
V7422I |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,453,357 (GRCm39) |
|
probably null |
Het |
| Wdr17 |
T |
C |
8: 55,115,904 (GRCm39) |
D633G |
probably damaging |
Het |
| Wdsub1 |
A |
T |
2: 59,683,239 (GRCm39) |
M445K |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,481,102 (GRCm39) |
F257L |
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 |
|
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'- AGCTCAATTTCCAGACAGGCC -3'
(R):5'- CAACCAGCTCAGCATGATTAAG -3'
Sequencing Primer
(F):5'- GGCCTACTGGTACCTGCACATATC -3'
(R):5'- CCAGCTCAGCATGATTAAGTTAAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation