Incidental Mutation 'R7722:Fmnl2'
ID |
595262 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl2
|
Ensembl Gene |
ENSMUSG00000036053 |
Gene Name |
formin-like 2 |
Synonyms |
man, 5430425K04Rik |
MMRRC Submission |
045778-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7722 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
52747872-53023816 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 52944479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 153
(S153R)
|
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: S153R
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000047260 Gene: ENSMUSG00000036053 AA Change: S153R
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 benign
Transcript: ENSMUST00000050719
AA Change: S153R
PolyPhen 2
Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000057084 Gene: ENSMUSG00000036053 AA Change: S153R
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: S153R
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000088472 Gene: ENSMUSG00000036053 AA Change: S153R
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: S153R
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118658 Gene: ENSMUSG00000036053 AA Change: S153R
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 |
|
SMART Domains |
Protein: ENSMUSP00000117822 Gene: ENSMUSG00000036053 AA Change: S153R
Domain | Start | End | E-Value | Type |
Pfam:FH2
|
1 |
131 |
2e-33 |
PFAM |
|
Meta Mutation Damage Score |
0.0803 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (57/58) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
A |
G |
17: 14,029,231 (GRCm39) |
E151G |
probably benign |
Het |
Alpk2 |
A |
T |
18: 65,483,228 (GRCm39) |
L260H |
probably damaging |
Het |
Amh |
T |
C |
10: 80,642,458 (GRCm39) |
V247A |
probably benign |
Het |
Ank2 |
T |
A |
3: 126,822,951 (GRCm39) |
I431L |
probably benign |
Het |
Ano7 |
G |
A |
1: 93,318,145 (GRCm39) |
A286T |
probably damaging |
Het |
Atp8a1 |
T |
A |
5: 67,780,041 (GRCm39) |
|
probably null |
Het |
Brd1 |
A |
T |
15: 88,613,762 (GRCm39) |
S378T |
probably damaging |
Het |
Clrn1 |
T |
A |
3: 58,753,755 (GRCm39) |
N202I |
possibly damaging |
Het |
Cspp1 |
T |
C |
1: 10,145,126 (GRCm39) |
V308A |
probably benign |
Het |
Cyp2a5 |
T |
C |
7: 26,536,543 (GRCm39) |
L174P |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
Fancm |
T |
A |
12: 65,153,235 (GRCm39) |
D1230E |
probably damaging |
Het |
Fbxl17 |
A |
T |
17: 63,663,823 (GRCm39) |
N555K |
probably damaging |
Het |
Fras1 |
G |
A |
5: 96,917,413 (GRCm39) |
V3478M |
probably damaging |
Het |
Gnptab |
T |
C |
10: 88,215,390 (GRCm39) |
F37S |
probably damaging |
Het |
Gpr183 |
T |
G |
14: 122,192,270 (GRCm39) |
I84L |
probably damaging |
Het |
Hcn1 |
A |
G |
13: 118,039,314 (GRCm39) |
H410R |
unknown |
Het |
Hmcn1 |
A |
G |
1: 150,543,631 (GRCm39) |
V2848A |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,272,512 (GRCm39) |
R1331* |
probably null |
Het |
Hsd17b4 |
A |
C |
18: 50,279,591 (GRCm39) |
N190T |
probably damaging |
Het |
Itprid2 |
T |
C |
2: 79,492,689 (GRCm39) |
S1079P |
probably damaging |
Het |
Kif14 |
A |
G |
1: 136,396,033 (GRCm39) |
D113G |
probably benign |
Het |
Kmt2e |
T |
G |
5: 23,702,016 (GRCm39) |
D881E |
probably benign |
Het |
Lamb1 |
T |
A |
12: 31,373,570 (GRCm39) |
L1481Q |
probably damaging |
Het |
Limk2 |
T |
C |
11: 3,306,092 (GRCm39) |
|
probably null |
Het |
Luc7l2 |
T |
A |
6: 38,580,243 (GRCm39) |
S281T |
unknown |
Het |
Map3k5 |
A |
G |
10: 20,007,891 (GRCm39) |
D1240G |
probably benign |
Het |
Med13l |
C |
A |
5: 118,885,472 (GRCm39) |
T1475K |
probably benign |
Het |
Med17 |
G |
T |
9: 15,182,987 (GRCm39) |
Q353K |
probably benign |
Het |
Mlh3 |
A |
G |
12: 85,314,266 (GRCm39) |
V640A |
probably benign |
Het |
Mms22l |
T |
A |
4: 24,517,201 (GRCm39) |
Y361N |
probably damaging |
Het |
Mtmr2 |
T |
A |
9: 13,716,104 (GRCm39) |
N532K |
probably benign |
Het |
Mtss1 |
G |
A |
15: 58,926,935 (GRCm39) |
T47I |
probably damaging |
Het |
Mturn |
T |
C |
6: 54,676,545 (GRCm39) |
|
probably null |
Het |
Muc20 |
A |
C |
16: 32,617,756 (GRCm39) |
S3A |
probably benign |
Het |
Nde1 |
T |
C |
16: 14,008,128 (GRCm39) |
Y164H |
unknown |
Het |
Neurl1b |
A |
G |
17: 26,660,132 (GRCm39) |
T451A |
probably benign |
Het |
Or52u1 |
C |
A |
7: 104,237,505 (GRCm39) |
Q165K |
possibly damaging |
Het |
Or8g18 |
A |
T |
9: 39,148,885 (GRCm39) |
Y278* |
probably null |
Het |
Pgap3 |
G |
A |
11: 98,281,610 (GRCm39) |
A196V |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Scart1 |
C |
A |
7: 139,802,299 (GRCm39) |
C209* |
probably null |
Het |
Sdcbp |
T |
A |
4: 6,385,063 (GRCm39) |
V94E |
possibly damaging |
Het |
Sgo2a |
T |
G |
1: 58,055,696 (GRCm39) |
F627V |
probably benign |
Het |
Skor2 |
A |
C |
18: 76,950,339 (GRCm39) |
N889T |
probably benign |
Het |
Slc35f4 |
A |
T |
14: 49,543,731 (GRCm39) |
N288K |
probably benign |
Het |
Slc9b2 |
T |
A |
3: 135,035,596 (GRCm39) |
V355E |
probably null |
Het |
Smarcc2 |
A |
G |
10: 128,317,597 (GRCm39) |
E566G |
possibly damaging |
Het |
Sorcs2 |
T |
C |
5: 36,200,871 (GRCm39) |
E559G |
probably damaging |
Het |
Sphkap |
T |
C |
1: 83,256,642 (GRCm39) |
D369G |
probably benign |
Het |
Stc1 |
T |
A |
14: 69,269,729 (GRCm39) |
I103N |
possibly damaging |
Het |
Stx8 |
T |
C |
11: 68,094,544 (GRCm39) |
V219A |
probably damaging |
Het |
Tg |
C |
T |
15: 66,636,158 (GRCm39) |
R582C |
possibly damaging |
Het |
Tshz2 |
T |
A |
2: 169,727,192 (GRCm39) |
L596Q |
probably benign |
Het |
Tti1 |
A |
G |
2: 157,849,527 (GRCm39) |
Y571H |
probably benign |
Het |
Zbtb40 |
A |
G |
4: 136,718,829 (GRCm39) |
I956T |
probably damaging |
Het |
Zfp990 |
A |
C |
4: 145,263,532 (GRCm39) |
N177H |
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 |
|
|
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'- TGATTCTTTTGCCAGACCCAG -3'
(R):5'- TGATCCTGCCACTCCAAAGC -3'
Sequencing Primer
(F):5'- GCCAGACCCAGTGTTTGTAATC -3'
(R):5'- CTCCAAAGCATCTGATTAAGGC -3'
|
Posted On |
2019-11-12 |