Incidental Mutation 'R1846:Fbln2'
| ID |
207726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbln2
|
| Ensembl Gene |
ENSMUSG00000064080 |
| Gene Name |
fibulin 2 |
| Synonyms |
5730577E14Rik |
| MMRRC Submission |
039871-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1846 (G1)
|
| Quality Score |
129 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91189442-91249522 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 91233399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 628
(Q628K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041544]
[ENSMUST00000113498]
|
| AlphaFold |
P37889 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041544
AA Change: Q628K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: Q628K
| 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: Q628K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
AA Change: Q628K
| 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 |
0.0911 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.6%
|
| Validation Efficiency |
99% (75/76) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
A |
7: 12,246,809 (GRCm39) |
R63Q |
probably benign |
Het |
| Adamts20 |
A |
T |
15: 94,243,871 (GRCm39) |
C619S |
probably damaging |
Het |
| Alx1 |
T |
C |
10: 102,861,165 (GRCm39) |
D121G |
possibly damaging |
Het |
| Anks3 |
A |
C |
16: 4,771,748 (GRCm39) |
M215R |
probably benign |
Het |
| Anxa4 |
T |
A |
6: 86,718,893 (GRCm39) |
|
probably null |
Het |
| Arhgef25 |
A |
G |
10: 127,021,733 (GRCm39) |
V222A |
probably damaging |
Het |
| Bglap2 |
A |
G |
3: 88,285,932 (GRCm39) |
|
probably benign |
Het |
| Cars2 |
A |
G |
8: 11,564,674 (GRCm39) |
V22A |
probably benign |
Het |
| Ccdc198 |
G |
T |
14: 49,473,420 (GRCm39) |
L102I |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,945,606 (GRCm39) |
I1040N |
probably damaging |
Het |
| Cep170 |
C |
T |
1: 176,583,335 (GRCm39) |
D1015N |
probably damaging |
Het |
| Chia1 |
T |
A |
3: 106,038,181 (GRCm39) |
I359N |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,038,248 (GRCm39) |
V93E |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnmbp |
T |
C |
19: 43,891,186 (GRCm39) |
I194V |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,783,267 (GRCm39) |
C734S |
probably benign |
Het |
| Eif4e3 |
T |
C |
6: 99,617,662 (GRCm39) |
S70G |
probably benign |
Het |
| Entpd3 |
G |
A |
9: 120,387,441 (GRCm39) |
D213N |
probably benign |
Het |
| Ern2 |
T |
G |
7: 121,775,759 (GRCm39) |
Y445S |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,704,133 (GRCm39) |
S1429P |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,036,532 (GRCm39) |
I3395V |
probably benign |
Het |
| Fbxo28 |
T |
C |
1: 182,153,845 (GRCm39) |
N164D |
probably benign |
Het |
| Fez1 |
T |
C |
9: 36,779,063 (GRCm39) |
S247P |
probably damaging |
Het |
| Gars1 |
A |
G |
6: 55,040,153 (GRCm39) |
D360G |
probably benign |
Het |
| Gcfc2 |
A |
T |
6: 81,933,873 (GRCm39) |
Q710L |
probably damaging |
Het |
| Ggt5 |
A |
G |
10: 75,446,376 (GRCm39) |
|
probably null |
Het |
| Glp1r |
A |
G |
17: 31,148,909 (GRCm39) |
|
probably null |
Het |
| Hspa14 |
T |
C |
2: 3,492,697 (GRCm39) |
D356G |
possibly damaging |
Het |
| Htt |
T |
A |
5: 35,006,288 (GRCm39) |
I1399N |
probably damaging |
Het |
| Kmt2e |
G |
A |
5: 23,704,484 (GRCm39) |
|
probably benign |
Het |
| Krt36 |
C |
A |
11: 99,996,374 (GRCm39) |
G17C |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,088,092 (GRCm39) |
E895G |
probably damaging |
Het |
| Lamb2 |
G |
A |
9: 108,364,586 (GRCm39) |
R1142H |
probably benign |
Het |
| Lhcgr |
C |
T |
17: 89,072,575 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
A |
G |
17: 71,532,064 (GRCm39) |
T140A |
probably benign |
Het |
| Metap1 |
A |
G |
3: 138,186,443 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
T |
C |
19: 12,440,486 (GRCm39) |
V648A |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,752,369 (GRCm38) |
I749N |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,965,862 (GRCm39) |
F1304L |
probably damaging |
Het |
| Nup85 |
A |
G |
11: 115,459,239 (GRCm39) |
E114G |
probably benign |
Het |
| Or2a5 |
A |
G |
6: 42,874,254 (GRCm39) |
S290G |
probably damaging |
Het |
| Or4c10 |
A |
G |
2: 89,761,010 (GRCm39) |
T286A |
possibly damaging |
Het |
| Or6b2b |
A |
T |
1: 92,418,822 (GRCm39) |
Y218* |
probably null |
Het |
| Pafah2 |
GCCCC |
GCCCCC |
4: 134,152,852 (GRCm39) |
|
probably null |
Het |
| Parp2 |
T |
A |
14: 51,052,843 (GRCm39) |
C145* |
probably null |
Het |
| Plpp6 |
T |
C |
19: 28,941,680 (GRCm39) |
S94P |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,953,172 (GRCm39) |
I1580T |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,574,043 (GRCm39) |
V860E |
probably damaging |
Het |
| Ppp1r17 |
A |
G |
6: 55,999,412 (GRCm39) |
E15G |
possibly damaging |
Het |
| Prl7b1 |
A |
T |
13: 27,786,831 (GRCm39) |
W133R |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,887,416 (GRCm39) |
|
probably null |
Het |
| Rad23b |
C |
T |
4: 55,383,637 (GRCm39) |
Q290* |
probably null |
Het |
| Rorb |
C |
T |
19: 18,932,445 (GRCm39) |
E369K |
probably damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,452 (GRCm39) |
D110G |
probably damaging |
Het |
| Smg7 |
A |
G |
1: 152,724,601 (GRCm39) |
S527P |
probably damaging |
Het |
| Ssbp2 |
C |
T |
13: 91,812,268 (GRCm39) |
P105L |
probably damaging |
Het |
| Stt3a |
C |
T |
9: 36,674,681 (GRCm39) |
R34H |
probably damaging |
Het |
| Sufu |
T |
A |
19: 46,439,386 (GRCm39) |
I202N |
possibly damaging |
Het |
| Thsd7b |
G |
A |
1: 129,540,993 (GRCm39) |
R289Q |
probably damaging |
Het |
| Tph1 |
A |
T |
7: 46,309,863 (GRCm39) |
S130T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,776,030 (GRCm39) |
S1671P |
probably damaging |
Het |
| Usp4 |
A |
G |
9: 108,249,935 (GRCm39) |
I441V |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,413 (GRCm39) |
N155D |
probably benign |
Het |
| Vmn2r115 |
A |
C |
17: 23,578,357 (GRCm39) |
K610T |
probably damaging |
Het |
| Vmn2r62 |
G |
A |
7: 42,438,546 (GRCm39) |
P97S |
probably damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,735,150 (GRCm39) |
D297G |
probably benign |
Het |
| Zfp174 |
C |
A |
16: 3,672,599 (GRCm39) |
Q383K |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,724,592 (GRCm39) |
D2198E |
probably benign |
Het |
| Zfp628 |
C |
T |
7: 4,923,866 (GRCm39) |
P696L |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,409,112 (GRCm39) |
N1695K |
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 |
|
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 |
|
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'- ACCACCCCAGTTTCAGAGATGG -3'
(R):5'- CAGCTGGCATGGAGAAAACC -3'
Sequencing Primer
(F):5'- CACCCCAGTTTCAGAGATGGAGATG -3'
(R):5'- AAACCCTGGTGCTGGAGACAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation