Incidental Mutation 'R8816:Fmnl2'
ID |
672714 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl2
|
Ensembl Gene |
ENSMUSG00000036053 |
Gene Name |
formin-like 2 |
Synonyms |
man, 5430425K04Rik |
MMRRC Submission |
068726-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8816 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
52747872-53023816 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 53004214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 642
(V642G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117822
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049483]
[ENSMUST00000050719]
[ENSMUST00000090952]
[ENSMUST00000127122]
[ENSMUST00000155586]
|
AlphaFold |
A2APV2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049483
AA Change: V642G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000047260 Gene: ENSMUSG00000036053 AA Change: V642G
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: V608G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000057084 Gene: ENSMUSG00000036053 AA Change: V608G
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: V642G
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000088472 Gene: ENSMUSG00000036053 AA Change: V642G
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 |
probably damaging
Transcript: ENSMUST00000127122
AA Change: V642G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118658 Gene: ENSMUSG00000036053 AA Change: V642G
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 |
unknown
Transcript: ENSMUST00000155586
AA Change: V642G
|
SMART Domains |
Protein: ENSMUSP00000117822 Gene: ENSMUSG00000036053 AA Change: V642G
Domain | Start | End | E-Value | Type |
Pfam:FH2
|
1 |
131 |
2e-33 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
A |
11: 110,127,513 (GRCm39) |
H348L |
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,478,024 (GRCm39) |
Y74* |
probably null |
Het |
Ass1 |
T |
C |
2: 31,383,189 (GRCm39) |
|
probably benign |
Het |
Atp8b4 |
C |
T |
2: 126,214,084 (GRCm39) |
|
probably benign |
Het |
Atrn |
C |
A |
2: 130,748,798 (GRCm39) |
N106K |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,846,494 (GRCm39) |
V1256A |
probably damaging |
Het |
Bicdl1 |
T |
A |
5: 115,862,804 (GRCm39) |
Q150H |
probably damaging |
Het |
Bltp3b |
T |
C |
10: 89,626,597 (GRCm39) |
|
probably benign |
Het |
Cdhr4 |
T |
C |
9: 107,872,791 (GRCm39) |
V280A |
possibly damaging |
Het |
Cfap54 |
C |
T |
10: 92,714,454 (GRCm39) |
V2642I |
unknown |
Het |
Chd2 |
T |
C |
7: 73,140,245 (GRCm39) |
H661R |
probably damaging |
Het |
Cntnap2 |
A |
G |
6: 46,833,076 (GRCm39) |
D763G |
possibly damaging |
Het |
Csnk1g2 |
T |
C |
10: 80,474,093 (GRCm39) |
C160R |
probably damaging |
Het |
Cyb5r4 |
T |
C |
9: 86,904,286 (GRCm39) |
S19P |
probably benign |
Het |
Cyp4a30b |
G |
A |
4: 115,309,834 (GRCm39) |
V12M |
probably benign |
Het |
Dpp6 |
C |
T |
5: 27,930,711 (GRCm39) |
P848S |
probably benign |
Het |
Dzip1 |
T |
C |
14: 119,159,785 (GRCm39) |
Y141C |
probably benign |
Het |
Eif2b3 |
C |
A |
4: 116,928,052 (GRCm39) |
Q424K |
probably benign |
Het |
Fbxw14 |
G |
A |
9: 109,105,305 (GRCm39) |
R287* |
probably null |
Het |
Fcgbp |
T |
G |
7: 27,784,412 (GRCm39) |
S157R |
probably benign |
Het |
Gpr119 |
C |
T |
X: 47,762,276 (GRCm39) |
R287Q |
possibly damaging |
Het |
Grm7 |
C |
T |
6: 111,230,966 (GRCm39) |
T463I |
possibly damaging |
Het |
Haus4 |
G |
A |
14: 54,779,710 (GRCm39) |
R305C |
probably benign |
Het |
Htr1f |
A |
G |
16: 64,746,537 (GRCm39) |
S252P |
probably benign |
Het |
Ino80b |
T |
C |
6: 83,098,861 (GRCm39) |
Q359R |
probably damaging |
Het |
Itgad |
C |
A |
7: 127,797,542 (GRCm39) |
Y924* |
probably null |
Het |
Itpr2 |
A |
G |
6: 146,142,710 (GRCm39) |
Y1703H |
probably damaging |
Het |
Kif5c |
T |
A |
2: 49,584,799 (GRCm39) |
V174E |
probably damaging |
Het |
Kifc2 |
A |
G |
15: 76,548,371 (GRCm39) |
E405G |
probably damaging |
Het |
Klk1b3 |
T |
C |
7: 43,851,668 (GRCm39) |
V242A |
possibly damaging |
Het |
Kndc1 |
T |
C |
7: 139,517,909 (GRCm39) |
F1615S |
probably damaging |
Het |
Lmtk2 |
T |
A |
5: 144,112,793 (GRCm39) |
L1171* |
probably null |
Het |
Myh10 |
A |
G |
11: 68,693,778 (GRCm39) |
E1530G |
probably damaging |
Het |
Nav3 |
T |
A |
10: 109,699,721 (GRCm39) |
S258C |
possibly damaging |
Het |
Nudcd3 |
C |
T |
11: 6,100,587 (GRCm39) |
G186S |
probably damaging |
Het |
Or9s15 |
T |
A |
1: 92,524,768 (GRCm39) |
C176S |
probably damaging |
Het |
Otog |
C |
T |
7: 45,950,905 (GRCm39) |
S374F |
possibly damaging |
Het |
P2ry2 |
T |
A |
7: 100,647,763 (GRCm39) |
I181F |
possibly damaging |
Het |
Pde11a |
T |
C |
2: 76,121,577 (GRCm39) |
I335V |
probably benign |
Het |
Phyhip |
A |
C |
14: 70,704,375 (GRCm39) |
D198A |
probably damaging |
Het |
Pik3r5 |
A |
T |
11: 68,385,060 (GRCm39) |
Y655F |
probably damaging |
Het |
Rab6a |
T |
C |
7: 100,279,145 (GRCm39) |
I95T |
possibly damaging |
Het |
Sgsm1 |
T |
C |
5: 113,435,097 (GRCm39) |
E99G |
probably damaging |
Het |
Skint10 |
A |
T |
4: 112,603,892 (GRCm39) |
F98L |
probably benign |
Het |
Slc35c2 |
A |
G |
2: 165,119,378 (GRCm39) |
S321P |
probably benign |
Het |
Smyd1 |
T |
A |
6: 71,192,868 (GRCm39) |
E447V |
probably damaging |
Het |
Smyd4 |
T |
C |
11: 75,281,232 (GRCm39) |
V235A |
probably benign |
Het |
Sod2 |
A |
G |
17: 13,227,253 (GRCm39) |
Y69C |
probably benign |
Het |
Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
Tfap2b |
A |
G |
1: 19,284,337 (GRCm39) |
S82G |
probably benign |
Het |
Tln2 |
C |
A |
9: 67,128,693 (GRCm39) |
E1465D |
possibly damaging |
Het |
Tln2 |
A |
G |
9: 67,128,799 (GRCm39) |
I1430T |
probably damaging |
Het |
Trio |
G |
T |
15: 27,741,357 (GRCm39) |
N2680K |
probably damaging |
Het |
Trmt10c |
A |
T |
16: 55,854,522 (GRCm39) |
V371D |
probably damaging |
Het |
Trpm3 |
T |
C |
19: 22,965,580 (GRCm39) |
S1692P |
probably damaging |
Het |
Usb1 |
G |
T |
8: 96,071,984 (GRCm39) |
C228F |
probably benign |
Het |
Veph1 |
G |
T |
3: 66,065,646 (GRCm39) |
H474N |
probably benign |
Het |
Wls |
A |
G |
3: 159,639,928 (GRCm39) |
T520A |
possibly damaging |
Het |
Ywhae |
T |
C |
11: 75,623,878 (GRCm39) |
Y9H |
probably damaging |
Het |
Zranb3 |
C |
T |
1: 127,964,347 (GRCm39) |
V127M |
possibly damaging |
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 |
R1549: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 |
|
|
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'- TCAATGTTTGGCACCACCTGG -3'
(R):5'- AGTGCAAGTCTAGTTCTTCACAC -3'
Sequencing Primer
(F):5'- CGTTCAAGTGTCATCTGCAAGGAC -3'
(R):5'- GCAAGTCTAGTTCTTCACACTGGAG -3'
|
Posted On |
2021-04-30 |