Incidental Mutation 'R1533:Fmnl2'
ID 166715
Institutional Source Beutler Lab
Gene Symbol Fmnl2
Ensembl Gene ENSMUSG00000036053
Gene Name formin-like 2
Synonyms man, 5430425K04Rik
MMRRC Submission 039572-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1533 (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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:FH2 1 131 2e-33 PFAM
Meta Mutation Damage Score 0.6222 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G C 3: 121,928,807 (GRCm39) G1340A probably benign Het
Ambra1 T A 2: 91,717,210 (GRCm39) Y836N probably damaging Het
Arhgap26 A T 18: 39,504,130 (GRCm39) H144L probably benign Het
B3gnt5 A G 16: 19,588,364 (GRCm39) I194M probably damaging Het
Bltp1 G T 3: 37,095,524 (GRCm39) G4509V probably damaging Het
Bod1l A T 5: 41,979,498 (GRCm39) C605* probably null Het
C2cd3 G T 7: 100,055,284 (GRCm39) K482N possibly damaging Het
Cd300lg T A 11: 101,934,047 (GRCm39) L98Q probably damaging Het
Cerkl T A 2: 79,171,701 (GRCm39) I386F possibly damaging Het
Cfh T A 1: 140,028,716 (GRCm39) D466V possibly damaging Het
Crtc1 A T 8: 70,850,949 (GRCm39) I221N probably damaging Het
Ctnnbl1 T C 2: 157,678,563 (GRCm39) S389P probably benign Het
Ctsb A T 14: 63,376,544 (GRCm39) D258V probably damaging Het
Cuzd1 G T 7: 130,913,432 (GRCm39) T395N probably damaging Het
Dnah6 T C 6: 73,128,536 (GRCm39) T1240A probably benign Het
Dok7 T A 5: 35,221,671 (GRCm39) probably null Het
Dscaml1 T C 9: 45,361,882 (GRCm39) V214A probably damaging Het
Enpp6 A T 8: 47,518,469 (GRCm39) Y199F probably benign Het
Entpd5 C A 12: 84,441,434 (GRCm39) K111N probably damaging Het
Fam98a A G 17: 75,848,276 (GRCm39) L146S probably damaging Het
Fhod3 A T 18: 25,248,921 (GRCm39) I1367F probably damaging Het
Fpr3 T A 17: 18,190,922 (GRCm39) Y64* probably null Het
Fzd6 A T 15: 38,895,019 (GRCm39) H395L probably damaging Het
Gcsh T A 8: 117,715,921 (GRCm39) H54L probably damaging Het
Gsdma T A 11: 98,567,210 (GRCm39) S437T unknown Het
Gzmc A G 14: 56,471,376 (GRCm39) V55A probably damaging Het
Hecw2 T A 1: 53,965,704 (GRCm39) probably null Het
Ifi207 A G 1: 173,555,306 (GRCm39) V792A probably benign Het
Itpr3 C A 17: 27,314,534 (GRCm39) N661K possibly damaging Het
Jmy A T 13: 93,577,819 (GRCm39) I783N probably benign Het
Kcmf1 T C 6: 72,820,003 (GRCm39) E281G possibly damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lgr6 T A 1: 135,032,670 (GRCm39) Y70F possibly damaging Het
Lnx1 T G 5: 74,780,678 (GRCm39) D330A probably damaging Het
Lrp5 T C 19: 3,664,234 (GRCm39) N106S probably benign Het
Mamdc4 C A 2: 25,459,759 (GRCm39) R135L possibly damaging Het
Mcm3ap A G 10: 76,340,121 (GRCm39) E1464G probably damaging Het
Megf8 T C 7: 25,034,280 (GRCm39) V666A possibly damaging Het
Mettl3 T A 14: 52,534,385 (GRCm39) E331D probably benign Het
Mphosph9 T C 5: 124,405,204 (GRCm39) K789R probably damaging Het
Mtf2 T C 5: 108,239,995 (GRCm39) L234P probably damaging Het
Ncdn C A 4: 126,642,491 (GRCm39) E389* probably null Het
Ndor1 A G 2: 25,139,279 (GRCm39) S231P probably damaging Het
Nelfa T G 5: 34,056,215 (GRCm39) K483Q probably damaging Het
Odad1 T A 7: 45,592,282 (GRCm39) M354K probably benign Het
Opn1sw C T 6: 29,378,923 (GRCm39) R243Q probably benign Het
Or13a24 T A 7: 140,155,034 (GRCm39) probably null Het
Or9e1 A G 11: 58,732,792 (GRCm39) N284S probably damaging Het
Pik3cd T C 4: 149,739,653 (GRCm39) E584G probably damaging Het
Plcb3 A T 19: 6,935,041 (GRCm39) M870K possibly damaging Het
Poc5 A G 13: 96,528,152 (GRCm39) D16G probably damaging Het
Prpf40a A G 2: 53,035,852 (GRCm39) I633T probably damaging Het
Ptpn13 G T 5: 103,704,044 (GRCm39) E1359* probably null Het
Ptprr C A 10: 116,024,113 (GRCm39) Y4* probably null Het
Rbm45 T C 2: 76,202,503 (GRCm39) probably null Het
Rfng C T 11: 120,672,687 (GRCm39) W320* probably null Het
Rgs6 G T 12: 83,138,547 (GRCm39) V294L probably benign Het
Rufy4 T C 1: 74,169,002 (GRCm39) probably null Het
Ruvbl2 T A 7: 45,073,566 (GRCm39) N313I probably damaging Het
Sema4g G A 19: 44,981,256 (GRCm39) V70M probably damaging Het
Siglec1 T C 2: 130,918,078 (GRCm39) T969A probably benign Het
Slc22a27 T A 19: 7,844,348 (GRCm39) T431S possibly damaging Het
Slc25a16 G A 10: 62,756,643 (GRCm39) R38H probably damaging Het
Slc38a6 T C 12: 73,391,626 (GRCm39) V296A probably benign Het
Slc39a11 C T 11: 113,196,748 (GRCm39) V212I probably damaging Het
Sltm A G 9: 70,493,948 (GRCm39) K782E probably damaging Het
Styxl1 T A 5: 135,799,175 (GRCm39) Y23F probably damaging Het
Svs4 T C 2: 164,120,148 (GRCm39) I20V unknown Het
Syt14 G T 1: 192,613,084 (GRCm39) T572K possibly damaging Het
Tbc1d5 A T 17: 51,227,603 (GRCm39) I214N possibly damaging Het
Tm9sf3 A G 19: 41,227,223 (GRCm39) S283P probably benign Het
Tmtc1 C T 6: 148,147,208 (GRCm39) probably null Het
Ttll7 T A 3: 146,602,422 (GRCm39) N73K probably damaging Het
Ttn T A 2: 76,602,802 (GRCm39) K18473N probably damaging Het
Ubr2 A C 17: 47,278,173 (GRCm39) Y721* probably null Het
Vmn1r14 T A 6: 57,211,286 (GRCm39) I288N probably damaging Het
Vmn2r103 T C 17: 19,993,662 (GRCm39) I13T probably benign Het
Vps13a A T 19: 16,678,494 (GRCm39) Y1162* probably null Het
Vps51 C A 19: 6,121,497 (GRCm39) R175L probably benign Het
Zfp523 C A 17: 28,423,473 (GRCm39) S149R probably benign Het
Zik1 A G 7: 10,224,053 (GRCm39) I348T possibly damaging Het
Znfx1 T A 2: 166,898,708 (GRCm39) H72L probably benign Het
Other mutations in Fmnl2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TTCACCGAATGGCTGCTGTATGGG -3'
(R):5'- AGGGTCACCAGTGAAATGGTTGC -3'

Sequencing Primer
(F):5'- CTTCTGGACTATATGCAAGACTCTG -3'
(R):5'- TGGTTGCACTAAATACACGGC -3'
Posted On 2014-04-13