Incidental Mutation 'R1549:Fmnl2'
ID |
169763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl2
|
Ensembl Gene |
ENSMUSG00000036053 |
Gene Name |
formin-like 2 |
Synonyms |
man, 5430425K04Rik |
MMRRC Submission |
039588-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1549 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
52747872-53023816 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 52995549 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 424
(E424G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117822
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049483]
[ENSMUST00000050719]
[ENSMUST00000090952]
[ENSMUST00000127122]
[ENSMUST00000155586]
|
AlphaFold |
A2APV2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049483
AA Change: E424G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000047260 Gene: ENSMUSG00000036053 AA Change: E424G
Domain | Start | End | E-Value | Type |
Drf_GBD
|
23 |
275 |
1.19e-96 |
SMART |
Drf_FH3
|
278 |
482 |
8.68e-76 |
SMART |
low complexity region
|
518 |
540 |
N/A |
INTRINSIC |
SCOP:d1jvr__
|
549 |
588 |
8e-3 |
SMART |
FH2
|
615 |
1052 |
1.66e-124 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050719
AA Change: E424G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057084 Gene: ENSMUSG00000036053 AA Change: E424G
Domain | Start | End | E-Value | Type |
Drf_GBD
|
23 |
275 |
1.19e-96 |
SMART |
Drf_FH3
|
278 |
482 |
8.68e-76 |
SMART |
low complexity region
|
518 |
540 |
N/A |
INTRINSIC |
low complexity region
|
549 |
568 |
N/A |
INTRINSIC |
FH2
|
581 |
1018 |
1.66e-124 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090952
AA Change: E424G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000088472 Gene: ENSMUSG00000036053 AA Change: E424G
Domain | Start | End | E-Value | Type |
Drf_GBD
|
23 |
275 |
1.19e-96 |
SMART |
Drf_FH3
|
278 |
482 |
8.68e-76 |
SMART |
low complexity region
|
518 |
540 |
N/A |
INTRINSIC |
SCOP:d1jvr__
|
549 |
588 |
6e-3 |
SMART |
FH2
|
615 |
1052 |
1.66e-124 |
SMART |
low complexity region
|
1063 |
1075 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127122
AA Change: E424G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118658 Gene: ENSMUSG00000036053 AA Change: E424G
Domain | Start | End | E-Value | Type |
Drf_GBD
|
23 |
275 |
1.19e-96 |
SMART |
Drf_FH3
|
278 |
482 |
8.68e-76 |
SMART |
low complexity region
|
518 |
540 |
N/A |
INTRINSIC |
SCOP:d1jvr__
|
549 |
588 |
7e-3 |
SMART |
FH2
|
615 |
1052 |
1.66e-124 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155586
AA Change: E424G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117822 Gene: ENSMUSG00000036053 AA Change: E424G
Domain | Start | End | E-Value | Type |
Pfam:FH2
|
1 |
131 |
2e-33 |
PFAM |
|
Meta Mutation Damage Score |
0.6222 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 90.8%
|
Validation Efficiency |
97% (58/60) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
T |
3: 124,210,441 (GRCm39) |
I157K |
probably benign |
Het |
Ank3 |
A |
T |
10: 69,837,812 (GRCm39) |
N727Y |
probably benign |
Het |
Atg16l1 |
A |
G |
1: 87,701,910 (GRCm39) |
T251A |
probably benign |
Het |
Bcl11b |
T |
A |
12: 107,883,422 (GRCm39) |
I226F |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,969,737 (GRCm39) |
H4260R |
probably damaging |
Het |
Camta1 |
A |
G |
4: 151,670,920 (GRCm39) |
I85T |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,853,373 (GRCm39) |
|
probably benign |
Het |
Ccnd1 |
T |
G |
7: 144,491,073 (GRCm39) |
I178L |
probably benign |
Het |
Clcn4 |
A |
G |
7: 7,294,681 (GRCm39) |
V329A |
probably damaging |
Het |
Col17a1 |
C |
T |
19: 47,637,349 (GRCm39) |
|
probably benign |
Het |
Col7a1 |
A |
G |
9: 108,785,034 (GRCm39) |
T254A |
unknown |
Het |
Ctif |
C |
A |
18: 75,698,096 (GRCm39) |
R188L |
probably damaging |
Het |
Cyp2c69 |
A |
T |
19: 39,831,430 (GRCm39) |
L461Q |
probably benign |
Het |
Ddc |
A |
G |
11: 11,796,656 (GRCm39) |
|
probably null |
Het |
Dpp10 |
T |
A |
1: 123,269,109 (GRCm39) |
|
probably null |
Het |
Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
Eif2b4 |
T |
C |
5: 31,350,265 (GRCm39) |
E19G |
possibly damaging |
Het |
Galnt14 |
A |
G |
17: 73,832,308 (GRCm39) |
L269P |
possibly damaging |
Het |
Gm2381 |
T |
A |
7: 42,471,825 (GRCm39) |
H18L |
probably benign |
Het |
Gpbp1 |
G |
T |
13: 111,573,113 (GRCm39) |
D326E |
probably benign |
Het |
Gpr162 |
C |
T |
6: 124,837,051 (GRCm39) |
R331H |
probably damaging |
Het |
Iigp1 |
G |
A |
18: 60,522,948 (GRCm39) |
G22D |
probably benign |
Het |
Kcns3 |
T |
C |
12: 11,142,084 (GRCm39) |
H205R |
probably damaging |
Het |
Klk1b26 |
C |
T |
7: 43,665,826 (GRCm39) |
|
probably benign |
Het |
Lime1 |
A |
G |
2: 181,025,169 (GRCm39) |
Y242C |
probably benign |
Het |
Manba |
A |
G |
3: 135,250,567 (GRCm39) |
D398G |
probably damaging |
Het |
Mapk3 |
A |
T |
7: 126,362,684 (GRCm39) |
K219* |
probably null |
Het |
Mdfic |
G |
T |
6: 15,799,844 (GRCm39) |
G324C |
probably damaging |
Het |
Mdga1 |
G |
A |
17: 30,056,972 (GRCm39) |
H837Y |
probably damaging |
Het |
Nck1 |
T |
A |
9: 100,379,925 (GRCm39) |
M109L |
probably benign |
Het |
Or1d2 |
A |
G |
11: 74,256,076 (GRCm39) |
I194V |
probably benign |
Het |
Or2w1b |
T |
C |
13: 21,300,288 (GRCm39) |
V142A |
probably benign |
Het |
Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
Phf3 |
C |
T |
1: 30,843,923 (GRCm39) |
V1679I |
probably benign |
Het |
Pou4f1 |
T |
C |
14: 104,705,076 (GRCm39) |
I32V |
probably benign |
Het |
Pspc1 |
T |
G |
14: 56,986,398 (GRCm39) |
H351P |
probably damaging |
Het |
Ptk7 |
T |
C |
17: 46,883,578 (GRCm39) |
E829G |
probably damaging |
Het |
Rab23 |
A |
G |
1: 33,777,378 (GRCm39) |
Y164C |
possibly damaging |
Het |
Slc36a3 |
A |
G |
11: 55,033,596 (GRCm39) |
W141R |
probably damaging |
Het |
Slc7a14 |
T |
C |
3: 31,278,267 (GRCm39) |
E446G |
possibly damaging |
Het |
Stim2 |
G |
A |
5: 54,262,667 (GRCm39) |
R303Q |
probably damaging |
Het |
Tbcd |
A |
G |
11: 121,451,579 (GRCm39) |
I550V |
probably benign |
Het |
Tmed3 |
A |
C |
9: 89,581,998 (GRCm39) |
L155R |
probably damaging |
Het |
Trav16d-dv11 |
A |
G |
14: 53,284,799 (GRCm39) |
|
probably benign |
Het |
Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
Usp16 |
G |
T |
16: 87,261,722 (GRCm39) |
V113F |
probably damaging |
Het |
Vmn2r12 |
T |
G |
5: 109,240,696 (GRCm39) |
Y139S |
probably benign |
Het |
Vmn2r5 |
G |
T |
3: 64,411,421 (GRCm39) |
D382E |
probably damaging |
Het |
Zfp1010 |
T |
C |
2: 176,957,378 (GRCm39) |
E40G |
probably damaging |
Het |
Zfp217 |
A |
C |
2: 169,956,390 (GRCm39) |
N869K |
probably benign |
Het |
Zswim2 |
G |
T |
2: 83,754,092 (GRCm39) |
D189E |
probably benign |
Het |
|
Other mutations in Fmnl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00401:Fmnl2
|
APN |
2 |
53,004,929 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00960:Fmnl2
|
APN |
2 |
53,013,494 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01343:Fmnl2
|
APN |
2 |
53,013,557 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01790:Fmnl2
|
APN |
2 |
53,008,380 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02555:Fmnl2
|
APN |
2 |
53,016,863 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02613:Fmnl2
|
APN |
2 |
52,963,747 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02712:Fmnl2
|
APN |
2 |
52,926,510 (GRCm39) |
splice site |
probably benign |
|
IGL02715:Fmnl2
|
APN |
2 |
52,962,222 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02750:Fmnl2
|
APN |
2 |
52,993,709 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02832:Fmnl2
|
APN |
2 |
52,748,261 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02975:Fmnl2
|
APN |
2 |
52,991,494 (GRCm39) |
missense |
probably benign |
0.45 |
Beefeater
|
UTSW |
2 |
52,963,666 (GRCm39) |
missense |
unknown |
|
waterloo
|
UTSW |
2 |
52,904,860 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4280001:Fmnl2
|
UTSW |
2 |
53,008,208 (GRCm39) |
missense |
unknown |
|
R0529:Fmnl2
|
UTSW |
2 |
52,932,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R0571:Fmnl2
|
UTSW |
2 |
52,944,503 (GRCm39) |
missense |
probably benign |
0.01 |
R0707:Fmnl2
|
UTSW |
2 |
52,944,498 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1172:Fmnl2
|
UTSW |
2 |
52,962,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R1473:Fmnl2
|
UTSW |
2 |
52,748,219 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1533:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1536:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1537:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1547:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1548:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1604:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1608:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1615:Fmnl2
|
UTSW |
2 |
53,008,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R1792:Fmnl2
|
UTSW |
2 |
52,932,329 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1965:Fmnl2
|
UTSW |
2 |
53,004,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Fmnl2
|
UTSW |
2 |
52,995,588 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2012:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2065:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2111:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2112:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2427:Fmnl2
|
UTSW |
2 |
53,006,991 (GRCm39) |
missense |
probably damaging |
0.96 |
R4084:Fmnl2
|
UTSW |
2 |
52,997,507 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4095:Fmnl2
|
UTSW |
2 |
52,991,535 (GRCm39) |
missense |
probably damaging |
0.99 |
R4607:Fmnl2
|
UTSW |
2 |
52,993,728 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4608:Fmnl2
|
UTSW |
2 |
52,993,728 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4720:Fmnl2
|
UTSW |
2 |
52,997,552 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4731:Fmnl2
|
UTSW |
2 |
53,007,081 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4947:Fmnl2
|
UTSW |
2 |
52,963,722 (GRCm39) |
missense |
probably benign |
0.32 |
R5015:Fmnl2
|
UTSW |
2 |
52,993,773 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5402:Fmnl2
|
UTSW |
2 |
53,018,794 (GRCm39) |
missense |
probably damaging |
0.97 |
R5731:Fmnl2
|
UTSW |
2 |
53,008,149 (GRCm39) |
splice site |
probably null |
|
R5766:Fmnl2
|
UTSW |
2 |
52,991,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R5945:Fmnl2
|
UTSW |
2 |
53,004,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R6093:Fmnl2
|
UTSW |
2 |
53,004,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R6210:Fmnl2
|
UTSW |
2 |
53,020,457 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6287:Fmnl2
|
UTSW |
2 |
52,904,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R6661:Fmnl2
|
UTSW |
2 |
52,998,297 (GRCm39) |
missense |
probably damaging |
0.98 |
R6967:Fmnl2
|
UTSW |
2 |
52,987,344 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7006:Fmnl2
|
UTSW |
2 |
52,998,266 (GRCm39) |
missense |
probably benign |
0.27 |
R7146:Fmnl2
|
UTSW |
2 |
52,958,552 (GRCm39) |
missense |
|
|
R7173:Fmnl2
|
UTSW |
2 |
53,004,202 (GRCm39) |
missense |
unknown |
|
R7176:Fmnl2
|
UTSW |
2 |
53,004,162 (GRCm39) |
missense |
unknown |
|
R7182:Fmnl2
|
UTSW |
2 |
52,997,453 (GRCm39) |
missense |
unknown |
|
R7201:Fmnl2
|
UTSW |
2 |
52,963,666 (GRCm39) |
missense |
unknown |
|
R7470:Fmnl2
|
UTSW |
2 |
52,932,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R7481:Fmnl2
|
UTSW |
2 |
52,998,443 (GRCm39) |
missense |
unknown |
|
R7691:Fmnl2
|
UTSW |
2 |
52,991,510 (GRCm39) |
missense |
unknown |
|
R7699:Fmnl2
|
UTSW |
2 |
52,926,520 (GRCm39) |
missense |
|
|
R7700:Fmnl2
|
UTSW |
2 |
52,926,520 (GRCm39) |
missense |
|
|
R7722:Fmnl2
|
UTSW |
2 |
52,944,479 (GRCm39) |
missense |
|
|
R7775:Fmnl2
|
UTSW |
2 |
52,963,692 (GRCm39) |
missense |
unknown |
|
R7824:Fmnl2
|
UTSW |
2 |
52,963,692 (GRCm39) |
missense |
unknown |
|
R8282:Fmnl2
|
UTSW |
2 |
52,997,678 (GRCm39) |
critical splice donor site |
probably null |
|
R8774:Fmnl2
|
UTSW |
2 |
52,932,321 (GRCm39) |
missense |
|
|
R8774-TAIL:Fmnl2
|
UTSW |
2 |
52,932,321 (GRCm39) |
missense |
|
|
R8816:Fmnl2
|
UTSW |
2 |
53,004,214 (GRCm39) |
missense |
unknown |
|
R8832:Fmnl2
|
UTSW |
2 |
52,944,584 (GRCm39) |
missense |
|
|
R8868:Fmnl2
|
UTSW |
2 |
53,016,077 (GRCm39) |
missense |
unknown |
|
R8990:Fmnl2
|
UTSW |
2 |
53,016,971 (GRCm39) |
missense |
unknown |
|
R9412:Fmnl2
|
UTSW |
2 |
53,007,016 (GRCm39) |
missense |
unknown |
|
R9502:Fmnl2
|
UTSW |
2 |
52,998,312 (GRCm39) |
missense |
unknown |
|
R9532:Fmnl2
|
UTSW |
2 |
53,006,941 (GRCm39) |
missense |
unknown |
|
R9602:Fmnl2
|
UTSW |
2 |
53,013,587 (GRCm39) |
critical splice donor site |
probably null |
|
R9760:Fmnl2
|
UTSW |
2 |
52,944,527 (GRCm39) |
missense |
|
|
Z1188:Fmnl2
|
UTSW |
2 |
53,004,883 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTTCACCGAATGGCTGCTGTATG -3'
(R):5'- GGGTCACCAGTGAAATGGTTGCAC -3'
Sequencing Primer
(F):5'- CTTCTGGACTATATGCAAGACTCTG -3'
(R):5'- TGGTTGCACTAAATACACGGC -3'
|
Posted On |
2014-04-13 |