Incidental Mutation 'R8320:Fbln2'
| ID |
641902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbln2
|
| Ensembl Gene |
ENSMUSG00000064080 |
| Gene Name |
fibulin 2 |
| Synonyms |
5730577E14Rik |
| MMRRC Submission |
067722-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8320 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
91189442-91249522 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91234749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 689
(T689I)
|
| 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: T689I
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: T689I
| 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: T689I
PolyPhen 2
Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
AA Change: T689I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb10 |
A |
G |
5: 24,742,626 (GRCm39) |
|
probably null |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Clec3a |
T |
C |
8: 115,152,369 (GRCm39) |
V125A |
probably benign |
Het |
| Clspn |
A |
G |
4: 126,457,743 (GRCm39) |
D258G |
possibly damaging |
Het |
| Cnn3 |
T |
G |
3: 121,243,635 (GRCm39) |
L32R |
probably damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,374,466 (GRCm39) |
F993L |
possibly damaging |
Het |
| Cobl |
A |
G |
11: 12,217,001 (GRCm39) |
S496P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,291,043 (GRCm39) |
V2469A |
probably benign |
Het |
| Egfr |
T |
C |
11: 16,841,251 (GRCm39) |
F714S |
probably damaging |
Het |
| Erap1 |
G |
C |
13: 74,814,668 (GRCm39) |
E465Q |
probably benign |
Het |
| Ercc6 |
T |
C |
14: 32,242,972 (GRCm39) |
V204A |
probably benign |
Het |
| Fbxw13 |
G |
T |
9: 109,012,134 (GRCm39) |
T311K |
probably benign |
Het |
| Foxj2 |
T |
A |
6: 122,810,649 (GRCm39) |
S210T |
probably benign |
Het |
| Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
| Grid2 |
T |
C |
6: 63,233,917 (GRCm39) |
I26T |
probably benign |
Het |
| Gzmd |
A |
G |
14: 56,367,190 (GRCm39) |
I234T |
probably benign |
Het |
| Igkv2-137 |
GA |
GAA |
6: 67,533,154 (GRCm39) |
|
probably null |
Het |
| Kif26b |
T |
C |
1: 178,711,641 (GRCm39) |
|
probably null |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Klra10 |
A |
G |
6: 130,246,211 (GRCm39) |
C255R |
probably damaging |
Het |
| Lgi4 |
T |
C |
7: 30,768,366 (GRCm39) |
V455A |
probably benign |
Het |
| Mucl3 |
T |
C |
17: 35,954,530 (GRCm39) |
T11A |
probably benign |
Het |
| Neb |
C |
A |
2: 52,186,343 (GRCm39) |
V910L |
probably benign |
Het |
| Pigg |
G |
A |
5: 108,495,717 (GRCm39) |
R918H |
probably benign |
Het |
| Poln |
A |
G |
5: 34,307,171 (GRCm39) |
V10A |
possibly damaging |
Het |
| Polr1a |
T |
A |
6: 71,918,368 (GRCm39) |
M642K |
probably damaging |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,460,379 (GRCm39) |
Y167* |
probably null |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Sars2 |
C |
T |
7: 28,446,293 (GRCm39) |
T174I |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,480,560 (GRCm39) |
V398A |
possibly damaging |
Het |
| Slc6a2 |
C |
T |
8: 93,719,476 (GRCm39) |
T397I |
probably benign |
Het |
| Smarca4 |
G |
T |
9: 21,588,798 (GRCm39) |
R1200L |
probably benign |
Het |
| Stx7 |
G |
T |
10: 24,055,046 (GRCm39) |
A63S |
probably damaging |
Het |
| Sval3 |
G |
A |
6: 41,949,458 (GRCm39) |
V99I |
probably benign |
Het |
| Syna |
A |
G |
5: 134,588,574 (GRCm39) |
I125T |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,150,604 (GRCm39) |
S1827P |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,916,749 (GRCm39) |
V33A |
possibly damaging |
Het |
| Tpcn2 |
C |
T |
7: 144,820,359 (GRCm39) |
R373H |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,918,541 (GRCm39) |
D1511G |
possibly damaging |
Het |
| Ttc3 |
C |
A |
16: 94,219,535 (GRCm39) |
R487S |
probably damaging |
Het |
| Tubb3 |
T |
C |
8: 124,147,594 (GRCm39) |
S176P |
possibly damaging |
Het |
| Zfp189 |
C |
G |
4: 49,530,180 (GRCm39) |
Q428E |
probably benign |
Het |
| Zscan4d |
C |
T |
7: 10,799,942 (GRCm39) |
V316M |
probably benign |
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 |
|
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'- ATATTGTCTCCTGTGCCAGC -3'
(R):5'- TGAACCTCACGATCAGGGTG -3'
Sequencing Primer
(F):5'- ACCCTGTGAAAAGGCTCAGGC -3'
(R):5'- CTCACGATCAGGGTGCATTTGAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation