Incidental Mutation 'IGL02832:Fmnl2'
ID 361504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fmnl2
Ensembl Gene ENSMUSG00000036053
Gene Name formin-like 2
Synonyms man, 5430425K04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02832
Quality Score
Status
Chromosome 2
Chromosomal Location 52747872-53023816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 52748261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 36 (A36V)
Ref Sequence ENSEMBL: ENSMUSP00000117822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049483] [ENSMUST00000050719] [ENSMUST00000090952] [ENSMUST00000127122] [ENSMUST00000155586]
AlphaFold A2APV2
Predicted Effect probably benign
Transcript: ENSMUST00000049483
AA Change: A36V

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: A36V

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 benign
Transcript: ENSMUST00000050719
AA Change: A36V

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: A36V

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 probably benign
Transcript: ENSMUST00000090952
AA Change: A36V

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: A36V

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 probably benign
Transcript: ENSMUST00000127122
AA Change: A36V

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: A36V

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 possibly damaging
Transcript: ENSMUST00000155586
AA Change: A36V

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: A36V

DomainStartEndE-ValueType
Pfam:FH2 1 131 2e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181380
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 G A 6: 92,784,156 (GRCm39) T985M probably damaging Het
Alpk1 A G 3: 127,473,592 (GRCm39) S804P possibly damaging Het
Ap3b1 A G 13: 94,664,835 (GRCm39) I925V unknown Het
Cep135 T A 5: 76,788,796 (GRCm39) S1130T probably damaging Het
Cers3 A T 7: 66,431,573 (GRCm39) M183L probably benign Het
Col5a1 A G 2: 27,842,352 (GRCm39) E409G unknown Het
Cyp4a32 G T 4: 115,471,818 (GRCm39) V410F probably damaging Het
Ddx1 G A 12: 13,277,318 (GRCm39) Q528* probably null Het
Dio2 G A 12: 90,696,178 (GRCm39) probably benign Het
Dnah9 G T 11: 65,931,172 (GRCm39) A2008E probably damaging Het
Dnajc2 A G 5: 21,965,408 (GRCm39) V457A probably benign Het
Dytn T C 1: 63,682,532 (GRCm39) T372A probably benign Het
Fam135a T C 1: 24,067,714 (GRCm39) I152V probably benign Het
Galnt7 G A 8: 58,005,531 (GRCm39) T234I probably damaging Het
Gba1 A C 3: 89,110,809 (GRCm39) I6L probably benign Het
Gja10 A G 4: 32,602,147 (GRCm39) V79A probably damaging Het
Gpd2 T A 2: 57,228,991 (GRCm39) V265E probably damaging Het
Gpld1 T C 13: 25,136,861 (GRCm39) Y60H probably damaging Het
H2bc27 A G 11: 58,839,869 (GRCm39) K35R probably benign Het
Heatr9 A G 11: 83,409,672 (GRCm39) probably benign Het
Krt75 T A 15: 101,476,508 (GRCm39) D419V probably benign Het
Lrig3 A T 10: 125,842,871 (GRCm39) I599F probably benign Het
Lrp4 A G 2: 91,341,925 (GRCm39) D1846G probably damaging Het
Mamdc2 C T 19: 23,281,215 (GRCm39) A653T probably damaging Het
Myo7a A T 7: 97,740,227 (GRCm39) probably null Het
Notch2 A G 3: 98,044,689 (GRCm39) D1537G probably benign Het
Or10k2 G A 8: 84,268,100 (GRCm39) C109Y probably damaging Het
Or51a25 G T 7: 102,372,858 (GRCm39) H280N probably benign Het
Or52ae7 A T 7: 103,119,905 (GRCm39) I220L probably benign Het
Papss1 A C 3: 131,288,280 (GRCm39) D84A probably damaging Het
Pcdhb16 T A 18: 37,611,527 (GRCm39) D162E probably damaging Het
Rab11fip1 C T 8: 27,642,840 (GRCm39) R653Q possibly damaging Het
Rap1gap2 A T 11: 74,303,281 (GRCm39) probably benign Het
Rasal2 T C 1: 156,984,777 (GRCm39) D990G probably damaging Het
Rnf32 T C 5: 29,410,701 (GRCm39) probably null Het
Rp1 T C 1: 4,419,936 (GRCm39) D392G probably benign Het
Scn9a T C 2: 66,398,373 (GRCm39) D79G probably damaging Het
Selenon A T 4: 134,268,219 (GRCm39) V438D probably damaging Het
Slc47a1 G A 11: 61,254,239 (GRCm39) H158Y probably benign Het
Slc5a12 A T 2: 110,471,160 (GRCm39) E463D probably benign Het
Taf2 C T 15: 54,879,959 (GRCm39) V1126M probably benign Het
Tas2r143 G T 6: 42,377,259 (GRCm39) V30L possibly damaging Het
Tcea3 G A 4: 135,995,424 (GRCm39) V256M probably damaging Het
Thy1 A G 9: 43,958,111 (GRCm39) T80A probably benign Het
Tmem9 A G 1: 135,947,469 (GRCm39) N47S probably damaging Het
Tmprss11g T C 5: 86,645,128 (GRCm39) Q101R probably benign Het
Trim66 C T 7: 109,059,704 (GRCm39) C792Y probably damaging Het
Tstd2 A T 4: 46,124,949 (GRCm39) M226K probably damaging Het
Utrn G T 10: 12,613,937 (GRCm39) T378K possibly damaging Het
Vmn2r23 A G 6: 123,681,355 (GRCm39) I88V 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
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
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
Posted On 2015-12-18