Incidental Mutation 'R1604:Fmnl2'
| ID |
176303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmnl2
|
| Ensembl Gene |
ENSMUSG00000036053 |
| Gene Name |
formin-like 2 |
| Synonyms |
man, 5430425K04Rik |
| MMRRC Submission |
039641-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1604 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 98.0%
- 10x: 95.3%
- 20x: 89.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart2 |
A |
G |
12: 55,612,405 (GRCm39) |
D110G |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,133,785 (GRCm39) |
M369T |
possibly damaging |
Het |
| Anks3 |
C |
T |
16: 4,766,117 (GRCm39) |
V151M |
probably damaging |
Het |
| Arl6ip6 |
T |
C |
2: 53,082,508 (GRCm39) |
L125P |
probably damaging |
Het |
| Bmp1 |
T |
C |
14: 70,745,444 (GRCm39) |
Q247R |
possibly damaging |
Het |
| Ccdc30 |
A |
G |
4: 119,188,793 (GRCm39) |
I491T |
probably damaging |
Het |
| Cdhr1 |
T |
A |
14: 36,817,050 (GRCm39) |
I104F |
probably benign |
Het |
| Cdk17 |
G |
T |
10: 93,068,360 (GRCm39) |
M372I |
probably damaging |
Het |
| Cyp2c54 |
A |
G |
19: 40,058,787 (GRCm39) |
V215A |
probably benign |
Het |
| D430041D05Rik |
T |
A |
2: 104,035,487 (GRCm39) |
I1614F |
probably damaging |
Het |
| Ddx55 |
A |
G |
5: 124,697,369 (GRCm39) |
N244D |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,559,458 (GRCm39) |
V617F |
probably benign |
Het |
| Erbb4 |
G |
T |
1: 68,385,728 (GRCm39) |
A287E |
possibly damaging |
Het |
| Gad2 |
T |
C |
2: 22,513,852 (GRCm39) |
|
probably null |
Het |
| Gm17421 |
G |
A |
12: 113,333,155 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9894 |
T |
A |
13: 67,913,008 (GRCm39) |
|
noncoding transcript |
Het |
| Gnpat |
T |
C |
8: 125,603,700 (GRCm39) |
S193P |
probably damaging |
Het |
| Gpr20 |
C |
T |
15: 73,567,853 (GRCm39) |
V179M |
probably damaging |
Het |
| Hdgf |
T |
A |
3: 87,821,347 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
A |
T |
12: 119,166,265 (GRCm39) |
L89M |
probably damaging |
Het |
| Lnx2 |
T |
C |
5: 146,966,135 (GRCm39) |
D328G |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,049,305 (GRCm39) |
T341A |
possibly damaging |
Het |
| Map1b |
A |
G |
13: 99,566,080 (GRCm39) |
S2214P |
unknown |
Het |
| Mms22l |
T |
C |
4: 24,502,804 (GRCm39) |
F131L |
probably damaging |
Het |
| Msmo1 |
A |
G |
8: 65,180,689 (GRCm39) |
I75T |
probably damaging |
Het |
| Or10d1c |
A |
T |
9: 38,893,914 (GRCm39) |
M142K |
probably benign |
Het |
| Or2a56 |
G |
A |
6: 42,932,650 (GRCm39) |
A73T |
possibly damaging |
Het |
| Or51k1 |
G |
T |
7: 103,661,162 (GRCm39) |
A249E |
probably damaging |
Het |
| Or8c13 |
A |
G |
9: 38,091,645 (GRCm39) |
V158A |
probably benign |
Het |
| Or8d2 |
T |
G |
9: 38,760,000 (GRCm39) |
F197V |
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,330,763 (GRCm39) |
R113* |
probably null |
Het |
| Polr2m |
T |
C |
9: 71,390,959 (GRCm39) |
D81G |
probably damaging |
Het |
| Ppp1r15b |
T |
A |
1: 133,060,287 (GRCm39) |
M268K |
probably benign |
Het |
| Ptprcap |
T |
A |
19: 4,206,073 (GRCm39) |
L52* |
probably null |
Het |
| Rasgrp2 |
C |
T |
19: 6,457,087 (GRCm39) |
T277I |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,831,310 (GRCm39) |
N286D |
probably damaging |
Het |
| Scml2 |
G |
T |
X: 160,014,442 (GRCm39) |
E566D |
possibly damaging |
Het |
| Scrib |
A |
C |
15: 75,920,089 (GRCm39) |
S1557A |
probably damaging |
Het |
| Sergef |
C |
A |
7: 46,092,783 (GRCm39) |
V409L |
probably benign |
Het |
| Shisal1 |
T |
C |
15: 84,290,672 (GRCm39) |
M212V |
probably benign |
Het |
| Slc6a13 |
A |
G |
6: 121,309,328 (GRCm39) |
M280V |
probably benign |
Het |
| Slc9a8 |
C |
T |
2: 167,313,352 (GRCm39) |
P409S |
probably benign |
Het |
| Smarca4 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
9: 21,612,239 (GRCm39) |
|
probably benign |
Het |
| Spc25 |
T |
C |
2: 69,035,498 (GRCm39) |
D4G |
probably damaging |
Het |
| Specc1 |
C |
T |
11: 61,933,883 (GRCm39) |
R88C |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,724,948 (GRCm39) |
|
probably null |
Het |
| Stt3b |
T |
C |
9: 115,079,995 (GRCm39) |
E639G |
probably damaging |
Het |
| Sult3a1 |
A |
C |
10: 33,742,616 (GRCm39) |
E81A |
probably damaging |
Het |
| Taf1b |
G |
A |
12: 24,606,623 (GRCm39) |
G481D |
probably benign |
Het |
| Tgm4 |
T |
C |
9: 122,874,129 (GRCm39) |
V123A |
probably benign |
Het |
| Tie1 |
G |
T |
4: 118,331,604 (GRCm39) |
H973N |
probably damaging |
Het |
| Tmem117 |
C |
T |
15: 94,992,425 (GRCm39) |
R362W |
probably damaging |
Het |
| Txnip |
A |
T |
3: 96,466,277 (GRCm39) |
Q107L |
probably benign |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,837,780 (GRCm39) |
V1628A |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,564,245 (GRCm39) |
M139K |
probably benign |
Het |
| Wwp1 |
A |
G |
4: 19,659,709 (GRCm39) |
V193A |
probably benign |
Het |
| Zcchc8 |
C |
T |
5: 123,838,721 (GRCm39) |
A606T |
probably benign |
Het |
| Zfp131 |
G |
A |
13: 120,230,316 (GRCm39) |
L371F |
probably damaging |
Het |
| Zfp518b |
T |
C |
5: 38,830,949 (GRCm39) |
D352G |
probably damaging |
Het |
| Zfp784 |
A |
G |
7: 5,039,453 (GRCm39) |
|
probably benign |
Het |
| Zfp940 |
A |
T |
7: 29,545,500 (GRCm39) |
F136I |
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 |
|
R1549: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'- AGGGTCACCAGTGAAATGGTTGC -3'
Sequencing Primer
(F):5'- CTTCTGGACTATATGCAAGACTCTG -3'
(R):5'- TGGTTGCACTAAATACACGGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation