Incidental Mutation 'R9248:Fbln2'
| ID |
701357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbln2
|
| Ensembl Gene |
ENSMUSG00000064080 |
| Gene Name |
fibulin 2 |
| Synonyms |
5730577E14Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9248 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
91189442-91249522 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91231556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 551
(V551E)
|
| 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: V551E
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: V551E
| 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: V551E
PolyPhen 2
Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
AA Change: V551E
| 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: 98.7%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
T |
C |
9: 118,983,002 (GRCm39) |
N132S |
probably benign |
Het |
| Agpat2 |
A |
G |
2: 26,483,601 (GRCm39) |
*279Q |
probably null |
Het |
| Akr1c19 |
C |
A |
13: 4,292,974 (GRCm39) |
D243E |
probably benign |
Het |
| Alg2 |
A |
G |
4: 47,474,001 (GRCm39) |
F96L |
probably benign |
Het |
| Apob |
C |
T |
12: 8,065,231 (GRCm39) |
Q4067* |
probably null |
Het |
| C1ra |
A |
T |
6: 124,489,580 (GRCm39) |
|
probably benign |
Het |
| C8a |
T |
C |
4: 104,703,199 (GRCm39) |
Y330C |
probably damaging |
Het |
| Ccdc185 |
A |
G |
1: 182,576,221 (GRCm39) |
V156A |
probably benign |
Het |
| Ces1g |
A |
G |
8: 94,060,319 (GRCm39) |
L100P |
possibly damaging |
Het |
| Cnbd1 |
T |
C |
4: 18,862,113 (GRCm39) |
N359S |
possibly damaging |
Het |
| Crybb2 |
C |
T |
5: 113,211,094 (GRCm39) |
A65T |
probably benign |
Het |
| Dcaf5 |
T |
C |
12: 80,386,563 (GRCm39) |
D521G |
probably benign |
Het |
| Dnmt1 |
A |
G |
9: 20,833,408 (GRCm39) |
F631L |
possibly damaging |
Het |
| Dok1 |
T |
A |
6: 83,008,893 (GRCm39) |
D263V |
possibly damaging |
Het |
| Ecel1 |
A |
G |
1: 87,081,112 (GRCm39) |
F293L |
probably benign |
Het |
| Ehmt1 |
A |
T |
2: 24,738,077 (GRCm39) |
L509Q |
possibly damaging |
Het |
| Fig4 |
C |
T |
10: 41,153,478 (GRCm39) |
V108I |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,991,396 (GRCm39) |
Y209C |
probably damaging |
Het |
| Heatr5a |
T |
C |
12: 51,963,026 (GRCm39) |
H52R |
|
Het |
| Heatr9 |
A |
T |
11: 83,409,281 (GRCm39) |
D157E |
possibly damaging |
Het |
| Jakmip2 |
A |
C |
18: 43,685,242 (GRCm39) |
M682R |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Layn |
A |
G |
9: 50,968,760 (GRCm39) |
S328P |
possibly damaging |
Het |
| Mblac2 |
A |
G |
13: 81,859,769 (GRCm39) |
D41G |
probably damaging |
Het |
| Mboat1 |
A |
G |
13: 30,410,392 (GRCm39) |
Y283C |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,736,226 (GRCm39) |
V334A |
possibly damaging |
Het |
| Mroh4 |
C |
T |
15: 74,485,167 (GRCm39) |
R515H |
possibly damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nsrp1 |
G |
A |
11: 76,937,036 (GRCm39) |
R387W |
probably benign |
Het |
| Or5p59 |
T |
C |
7: 107,703,256 (GRCm39) |
S247P |
probably damaging |
Het |
| Or8c16 |
T |
C |
9: 38,130,706 (GRCm39) |
Y193H |
probably benign |
Het |
| Ostm1 |
T |
C |
10: 42,574,210 (GRCm39) |
V301A |
probably damaging |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,608 (GRCm39) |
D662V |
probably damaging |
Het |
| Pfpl |
T |
A |
19: 12,406,374 (GRCm39) |
S208R |
probably damaging |
Het |
| Plin5 |
A |
T |
17: 56,419,324 (GRCm39) |
V366E |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,556,899 (GRCm39) |
I383V |
probably benign |
Het |
| Rnh1 |
T |
C |
7: 140,740,714 (GRCm39) |
T414A |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,617,296 (GRCm39) |
G537W |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,370,551 (GRCm39) |
N264S |
probably benign |
Het |
| Speg |
A |
C |
1: 75,398,420 (GRCm39) |
T1956P |
probably damaging |
Het |
| St14 |
T |
C |
9: 31,002,905 (GRCm39) |
Y666C |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,727,481 (GRCm39) |
H1448L |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,154,230 (GRCm39) |
|
probably benign |
Het |
| Taf9 |
T |
A |
13: 100,790,860 (GRCm39) |
|
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,334,040 (GRCm39) |
A516V |
possibly damaging |
Het |
| Tmem132e |
A |
G |
11: 82,335,308 (GRCm39) |
K797E |
probably damaging |
Het |
| Tpte |
A |
G |
8: 22,841,489 (GRCm39) |
T494A |
possibly damaging |
Het |
| Ttc41 |
T |
A |
10: 86,567,113 (GRCm39) |
L593Q |
probably benign |
Het |
| Uggt1 |
A |
C |
1: 36,249,103 (GRCm39) |
I279S |
possibly damaging |
Het |
| Uxs1 |
A |
G |
1: 43,804,084 (GRCm39) |
F277S |
probably damaging |
Het |
| Vat1 |
A |
T |
11: 101,351,380 (GRCm39) |
N320K |
possibly damaging |
Het |
| Wdr81 |
G |
T |
11: 75,336,256 (GRCm39) |
A592E |
|
Het |
| Zfp780b |
C |
T |
7: 27,673,143 (GRCm39) |
|
probably null |
Het |
| Zfp944 |
A |
T |
17: 22,562,619 (GRCm39) |
|
probably null |
Het |
| Zfp956 |
G |
T |
6: 47,934,437 (GRCm39) |
G136W |
possibly 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 |
|
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 |
|
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'- AACAGGCATGCTCTGAGGTC -3'
(R):5'- GGTGTTAGAGTCCAGTCAGCAG -3'
Sequencing Primer
(F):5'- CATGCTCTGAGGTCCTGGTTG -3'
(R):5'- GCAGAACTTTATAAAGCAGAGCTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation