Incidental Mutation 'R5766:Fmnl2'
ID |
446259 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl2
|
Ensembl Gene |
ENSMUSG00000036053 |
Gene Name |
formin-like 2 |
Synonyms |
man, 5430425K04Rik |
MMRRC Submission |
044424-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5766 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
52747872-53023816 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 52991466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 327
(V327A)
|
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: V327A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000047260 Gene: ENSMUSG00000036053 AA Change: V327A
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 |
possibly damaging
Transcript: ENSMUST00000050719
AA Change: V327A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000057084 Gene: ENSMUSG00000036053 AA Change: V327A
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: V327A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000088472 Gene: ENSMUSG00000036053 AA Change: V327A
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: V327A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000118658 Gene: ENSMUSG00000036053 AA Change: V327A
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: V327A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000117822 Gene: ENSMUSG00000036053 AA Change: V327A
Domain | Start | End | E-Value | Type |
Pfam:FH2
|
1 |
131 |
2e-33 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
A |
G |
4: 144,182,439 (GRCm39) |
V343A |
probably damaging |
Het |
AI429214 |
TCCCTGATGAAC |
TC |
8: 37,461,383 (GRCm39) |
|
probably null |
Het |
Arid2 |
A |
G |
15: 96,270,086 (GRCm39) |
T1400A |
probably benign |
Het |
Arrdc1 |
G |
A |
2: 24,816,417 (GRCm39) |
T184I |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,406,740 (GRCm39) |
F1876L |
probably damaging |
Het |
Calhm1 |
C |
T |
19: 47,132,142 (GRCm39) |
V158I |
probably benign |
Het |
Caly |
T |
C |
7: 139,650,310 (GRCm39) |
K211E |
probably benign |
Het |
Cenpe |
T |
C |
3: 134,954,174 (GRCm39) |
L1677P |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,381,032 (GRCm39) |
V1388A |
possibly damaging |
Het |
Dgkd |
C |
T |
1: 87,808,171 (GRCm39) |
R80* |
probably null |
Het |
Dnah3 |
A |
T |
7: 119,577,445 (GRCm39) |
I2072N |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,909,235 (GRCm39) |
I1020M |
probably benign |
Het |
Drc3 |
T |
C |
11: 60,284,647 (GRCm39) |
V484A |
probably benign |
Het |
Efcab8 |
A |
G |
2: 153,622,912 (GRCm39) |
D27G |
possibly damaging |
Het |
Fat4 |
G |
A |
3: 38,943,617 (GRCm39) |
G837R |
probably damaging |
Het |
Fcgbpl1 |
G |
A |
7: 27,836,754 (GRCm39) |
W224* |
probably null |
Het |
Fgb |
A |
T |
3: 82,953,483 (GRCm39) |
C96S |
probably damaging |
Het |
Flt4 |
G |
C |
11: 49,517,513 (GRCm39) |
W278C |
possibly damaging |
Het |
Fras1 |
A |
T |
5: 96,879,548 (GRCm39) |
Y2455F |
possibly damaging |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm13872 |
T |
A |
2: 102,568,254 (GRCm39) |
I88N |
probably damaging |
Het |
Hoxa6 |
A |
G |
6: 52,185,394 (GRCm39) |
S71P |
probably benign |
Het |
Hunk |
T |
A |
16: 90,250,627 (GRCm39) |
C148S |
probably damaging |
Het |
Ighv1-18 |
A |
C |
12: 114,646,527 (GRCm39) |
S26A |
probably damaging |
Het |
Impg2 |
T |
G |
16: 56,080,183 (GRCm39) |
D553E |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,757,900 (GRCm39) |
I266T |
probably benign |
Het |
Kpna3 |
G |
T |
14: 61,640,463 (GRCm39) |
T33K |
probably benign |
Het |
Lamb1 |
A |
G |
12: 31,349,930 (GRCm39) |
D622G |
probably damaging |
Het |
Lamp3 |
T |
C |
16: 19,520,067 (GRCm39) |
T39A |
probably damaging |
Het |
Mnt |
C |
T |
11: 74,733,904 (GRCm39) |
|
probably benign |
Het |
Msh4 |
A |
G |
3: 153,573,477 (GRCm39) |
S726P |
probably damaging |
Het |
Or13a25 |
T |
A |
7: 140,247,266 (GRCm39) |
V22E |
probably benign |
Het |
Pah |
A |
C |
10: 87,403,209 (GRCm39) |
K195Q |
probably damaging |
Het |
Pdc |
T |
A |
1: 150,209,251 (GRCm39) |
*245K |
probably null |
Het |
Pdzd8 |
A |
T |
19: 59,288,972 (GRCm39) |
H809Q |
possibly damaging |
Het |
Plekhd1 |
A |
T |
12: 80,769,140 (GRCm39) |
I467L |
probably benign |
Het |
Ppp2ca |
A |
G |
11: 52,004,014 (GRCm39) |
D57G |
probably damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,867,551 (GRCm39) |
M1K |
probably null |
Het |
Rfx2 |
T |
A |
17: 57,110,587 (GRCm39) |
D133V |
probably benign |
Het |
Scfd2 |
A |
T |
5: 74,623,312 (GRCm39) |
L407Q |
probably damaging |
Het |
Scp2d1 |
T |
A |
2: 144,665,957 (GRCm39) |
S99T |
possibly damaging |
Het |
Sec63 |
A |
T |
10: 42,677,677 (GRCm39) |
N261I |
probably damaging |
Het |
Slc8a1 |
T |
C |
17: 81,956,390 (GRCm39) |
Y216C |
probably damaging |
Het |
Son |
T |
A |
16: 91,461,875 (GRCm39) |
|
probably benign |
Het |
Syce1 |
T |
C |
7: 140,357,894 (GRCm39) |
E285G |
probably damaging |
Het |
Taar7a |
G |
T |
10: 23,869,260 (GRCm39) |
S40R |
probably benign |
Het |
Ube3a |
A |
T |
7: 58,925,807 (GRCm39) |
D216V |
possibly damaging |
Het |
Vgll2 |
A |
G |
10: 51,903,659 (GRCm39) |
D174G |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,575,139 (GRCm39) |
T149S |
possibly damaging |
Het |
Zbtb39 |
G |
T |
10: 127,578,557 (GRCm39) |
C377F |
probably damaging |
Het |
Zfp820 |
T |
A |
17: 22,038,983 (GRCm39) |
N115I |
probably damaging |
Het |
Zfp948 |
T |
C |
17: 21,805,078 (GRCm39) |
S23P |
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 |
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 |
|
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'- CTTGAGGATTTAGAGACATTAAGGAAA -3'
(R):5'- CGCTTTAGGCATTCTCTAGTTACTAAG -3'
Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- GTTACTAAGGAAATGAACCTCTGAG -3'
|
Posted On |
2016-11-21 |