Incidental Mutation 'R8931:Fbln2'
| ID |
680303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbln2
|
| Ensembl Gene |
ENSMUSG00000064080 |
| Gene Name |
fibulin 2 |
| Synonyms |
5730577E14Rik |
| MMRRC Submission |
068775-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8931 (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 T
at 91246072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 973
(I973F)
|
| 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: I1020F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: I1020F
| 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: I973F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
AA Change: I973F
| 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 |
|
| Meta Mutation Damage Score |
0.3574 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (58/58) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
G |
C |
17: 13,147,405 (GRCm39) |
P204R |
probably damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,968,803 (GRCm39) |
I250T |
possibly damaging |
Het |
| Ankrd11 |
C |
T |
8: 123,622,718 (GRCm39) |
R378K |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,057,324 (GRCm39) |
R1355Q |
possibly damaging |
Het |
| Arhgef19 |
T |
C |
4: 140,976,603 (GRCm39) |
V455A |
probably damaging |
Het |
| BC051019 |
T |
C |
7: 109,315,286 (GRCm39) |
E323G |
probably damaging |
Het |
| Bzw2 |
T |
C |
12: 36,184,943 (GRCm39) |
N2S |
possibly damaging |
Het |
| Calm3 |
G |
C |
7: 16,651,398 (GRCm39) |
F66L |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,338,704 (GRCm39) |
T191S |
probably benign |
Het |
| Cemip2 |
T |
A |
19: 21,770,323 (GRCm39) |
S104T |
probably benign |
Het |
| Cep170 |
A |
T |
1: 176,597,377 (GRCm39) |
C389S |
probably benign |
Het |
| Clhc1 |
C |
T |
11: 29,510,533 (GRCm39) |
Q195* |
probably null |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,808 (GRCm39) |
L350P |
probably benign |
Het |
| Cyp7a1 |
T |
C |
4: 6,271,238 (GRCm39) |
E306G |
possibly damaging |
Het |
| Ddx25 |
T |
C |
9: 35,465,864 (GRCm39) |
N119S |
possibly damaging |
Het |
| Ephx2 |
G |
T |
14: 66,322,441 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
C |
T |
7: 121,769,363 (GRCm39) |
A888T |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,202,095 (GRCm39) |
I1259M |
probably damaging |
Het |
| Glis1 |
A |
G |
4: 107,421,060 (GRCm39) |
H92R |
probably benign |
Het |
| Gm13283 |
A |
C |
4: 88,679,516 (GRCm39) |
D169A |
probably benign |
Het |
| Gpr61 |
A |
G |
3: 108,057,470 (GRCm39) |
L397P |
probably benign |
Het |
| H4c11 |
T |
A |
13: 21,919,369 (GRCm39) |
I35N |
probably damaging |
Het |
| Hip1 |
A |
T |
5: 135,460,297 (GRCm39) |
|
probably benign |
Het |
| Hmgcs2 |
C |
T |
3: 98,203,557 (GRCm39) |
A222V |
probably damaging |
Het |
| Ifna2 |
G |
A |
4: 88,601,712 (GRCm39) |
T102I |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,674,995 (GRCm39) |
S387P |
probably damaging |
Het |
| Ldlr |
G |
A |
9: 21,643,108 (GRCm39) |
V45M |
probably damaging |
Het |
| Mc3r |
A |
T |
2: 172,091,515 (GRCm39) |
I246F |
possibly damaging |
Het |
| Mug1 |
G |
C |
6: 121,861,296 (GRCm39) |
A1306P |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,368,020 (GRCm39) |
E260G |
probably benign |
Het |
| Naa16 |
A |
G |
14: 79,582,395 (GRCm39) |
Y565H |
probably damaging |
Het |
| Ndufaf7 |
A |
G |
17: 79,244,950 (GRCm39) |
Y23C |
possibly damaging |
Het |
| Nop58 |
G |
A |
1: 59,731,549 (GRCm39) |
|
probably null |
Het |
| Or6c33 |
A |
T |
10: 129,853,769 (GRCm39) |
T180S |
possibly damaging |
Het |
| Or6c88 |
A |
T |
10: 129,406,550 (GRCm39) |
T9S |
probably benign |
Het |
| Or7g19 |
T |
A |
9: 18,855,920 (GRCm39) |
|
probably benign |
Het |
| Pcdh8 |
G |
A |
14: 80,006,971 (GRCm39) |
Q531* |
probably null |
Het |
| Pik3c2g |
A |
G |
6: 139,821,093 (GRCm39) |
T297A |
probably benign |
Het |
| Poc1b |
T |
C |
10: 99,028,861 (GRCm39) |
|
probably null |
Het |
| Prb1c |
G |
A |
6: 132,338,897 (GRCm39) |
P107L |
|
Het |
| Prokr2 |
A |
G |
2: 132,215,996 (GRCm39) |
V155A |
possibly damaging |
Het |
| Rce1 |
C |
T |
19: 4,674,094 (GRCm39) |
|
probably benign |
Het |
| Rnf148 |
A |
T |
6: 23,654,704 (GRCm39) |
N97K |
possibly damaging |
Het |
| Setbp1 |
A |
G |
18: 78,899,723 (GRCm39) |
S1315P |
probably benign |
Het |
| Sgcz |
A |
G |
8: 38,107,140 (GRCm39) |
V124A |
probably damaging |
Het |
| Slc25a2 |
C |
A |
18: 37,771,089 (GRCm39) |
G147C |
probably damaging |
Het |
| Slc28a2b |
C |
A |
2: 122,348,983 (GRCm39) |
P303Q |
|
Het |
| Sod2 |
T |
C |
17: 13,227,193 (GRCm39) |
L49P |
probably damaging |
Het |
| Tbc1d12 |
T |
C |
19: 38,854,098 (GRCm39) |
V260A |
probably benign |
Het |
| Tcte2 |
C |
A |
17: 13,933,410 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,688,637 (GRCm39) |
T2317A |
probably damaging |
Het |
| Tfcp2 |
T |
C |
15: 100,402,298 (GRCm39) |
I500V |
possibly damaging |
Het |
| Trav14-3 |
C |
A |
14: 54,001,112 (GRCm39) |
Q108K |
probably damaging |
Het |
| Trbv14 |
T |
C |
6: 41,112,364 (GRCm39) |
Y54H |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,744,034 (GRCm39) |
V337E |
probably damaging |
Het |
| Tsbp1 |
T |
C |
17: 34,659,328 (GRCm39) |
|
probably benign |
Het |
| Uox |
A |
T |
3: 146,318,047 (GRCm39) |
I14F |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,065,421 (GRCm39) |
V1249A |
probably benign |
Het |
| Zfp511 |
T |
C |
7: 139,617,194 (GRCm39) |
Y97H |
probably damaging |
Het |
| Zfp536 |
G |
T |
7: 37,268,721 (GRCm39) |
Q232K |
probably benign |
Het |
| Zng1 |
T |
G |
19: 24,932,780 (GRCm39) |
K84N |
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 |
|
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 |
|
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'- TGCACAGTCCTGGGAATACTG -3'
(R):5'- TGAACACGTGGGCTTAGTGC -3'
Sequencing Primer
(F):5'- ATACTGTATATAGTCTGGGAGGACTC -3'
(R):5'- TTAGTGCTAAGCTCGAAGCC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation