Incidental Mutation 'IGL02552:Fmn2'
ID298122
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fmn2
Ensembl Gene ENSMUSG00000028354
Gene Nameformin 2
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.779) question?
Stock #IGL02552
Quality Score
Status
Chromosome1
Chromosomal Location174501825-174822729 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 174695720 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1380 (D1380E)
Ref Sequence ENSEMBL: ENSMUSP00000030039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030039]
Predicted Effect probably damaging
Transcript: ENSMUST00000030039
AA Change: D1380E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: D1380E

DomainStartEndE-ValueType
low complexity region 35 69 N/A INTRINSIC
low complexity region 196 212 N/A INTRINSIC
low complexity region 304 334 N/A INTRINSIC
Blast:FH2 353 577 2e-97 BLAST
low complexity region 604 616 N/A INTRINSIC
coiled coil region 645 681 N/A INTRINSIC
Blast:FH2 710 788 2e-14 BLAST
low complexity region 796 831 N/A INTRINSIC
Pfam:Drf_FH1 942 1048 3.1e-16 PFAM
low complexity region 1117 1131 N/A INTRINSIC
FH2 1139 1543 1.29e-85 SMART
PDB:2YLE|B 1550 1578 4e-11 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191971
Predicted Effect probably benign
Transcript: ENSMUST00000195621
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 is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. Mutations in this gene have been associated with mental retardation autosomal recessive 47 (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
PHENOTYPE: Female mice homozygous for a knock-out allele display polyploid embryo formation, recurrent pregnancy loss, hypofertility, and inadequate nursing behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,414,496 L178S probably damaging Het
2010005H15Rik A G 16: 36,253,089 E15G probably damaging Het
9130409I23Rik T A 1: 181,054,898 V75E possibly damaging Het
Abca12 A G 1: 71,294,747 Y1199H probably damaging Het
Abcc9 T C 6: 142,605,919 D1221G possibly damaging Het
Apc T A 18: 34,312,982 M977K possibly damaging Het
Arhgap30 T A 1: 171,407,756 L566Q probably damaging Het
Arhgap40 T A 2: 158,546,801 W552R probably benign Het
Astn1 C T 1: 158,505,395 S349F possibly damaging Het
Bard1 T C 1: 71,065,656 probably benign Het
Batf2 T A 19: 6,171,507 Y116N probably benign Het
Cbx6 T C 15: 79,828,893 H111R probably damaging Het
Cd44 T A 2: 102,848,731 N242I probably benign Het
Cdnf C T 2: 3,523,975 Q184* probably null Het
Chd2 C A 7: 73,447,320 probably benign Het
Cmtm6 G A 9: 114,737,306 V88M probably damaging Het
Col24a1 C A 3: 145,474,207 S1151R possibly damaging Het
Dnajc2 T C 5: 21,783,063 D6G probably damaging Het
Eif3a G A 19: 60,763,226 probably benign Het
Fbn1 C A 2: 125,412,713 C210F possibly damaging Het
Fry A T 5: 150,380,910 K588N probably damaging Het
Gm18856 G A 13: 13,965,220 probably benign Het
Gpr37 G T 6: 25,688,687 T137K probably benign Het
Gzmc T C 14: 56,234,582 M1V probably null Het
Htr5a T C 5: 27,842,960 V171A probably benign Het
Ints6l T C X: 56,455,197 probably benign Het
Kcnma1 C T 14: 23,386,259 probably null Het
Krt35 C T 11: 100,093,073 G367D probably benign Het
Nlrp1b C T 11: 71,172,231 V668I possibly damaging Het
Nlrp1b C T 11: 71,182,052 V322I possibly damaging Het
Ntf3 T C 6: 126,101,860 N228D probably damaging Het
Nup133 G A 8: 123,929,255 R496W possibly damaging Het
Olfr1258 T C 2: 89,930,559 V250A probably benign Het
Olfr640 C A 7: 104,022,256 G21W probably damaging Het
Pah C T 10: 87,578,845 probably benign Het
Pan2 G T 10: 128,319,027 W1112L probably damaging Het
Pkn3 G A 2: 30,080,867 R209Q probably damaging Het
Plaa C T 4: 94,582,480 probably null Het
Qprt C T 7: 127,108,855 A135T probably damaging Het
Rbbp6 T G 7: 122,982,981 S108A probably damaging Het
Smg1 T A 7: 118,195,894 probably benign Het
Spink5 T A 18: 43,992,168 C368S possibly damaging Het
Sptan1 T A 2: 30,018,474 I1734N probably damaging Het
Stk38l C T 6: 146,767,533 L170F probably damaging Het
Tesmin C T 19: 3,402,483 probably benign Het
Tjp1 A T 7: 65,299,782 C1697* probably null Het
Tmco4 T C 4: 139,058,379 S587P probably benign Het
Tmem208 G A 8: 105,328,697 probably null Het
Trim30d T C 7: 104,472,416 Q224R probably damaging Het
Trpm7 T A 2: 126,840,779 D390V probably damaging Het
Uba7 A G 9: 107,981,390 I807V probably benign Het
Uhrf1bp1l T A 10: 89,806,743 L10* probably null Het
Utp18 C A 11: 93,868,334 C438F probably damaging Het
Vps13d T C 4: 145,173,137 K191E possibly damaging Het
Wdr27 A G 17: 14,926,191 S181P probably damaging Het
Zfp462 T C 4: 55,010,613 Y860H probably damaging Het
Other mutations in Fmn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Fmn2 APN 1 174503319 missense unknown
IGL01085:Fmn2 APN 1 174695654 missense probably damaging 1.00
IGL01784:Fmn2 APN 1 174502428 missense unknown
IGL02095:Fmn2 APN 1 174502601 missense unknown
IGL02330:Fmn2 APN 1 174609945 missense probably benign 0.38
IGL02835:Fmn2 UTSW 1 174582059 missense unknown
PIT4498001:Fmn2 UTSW 1 174612604 missense probably damaging 1.00
PIT4677001:Fmn2 UTSW 1 174647133 missense probably damaging 1.00
R0025:Fmn2 UTSW 1 174791314 missense probably damaging 1.00
R0062:Fmn2 UTSW 1 174608449 unclassified probably benign
R0062:Fmn2 UTSW 1 174608449 unclassified probably benign
R0306:Fmn2 UTSW 1 174609484 unclassified probably benign
R0325:Fmn2 UTSW 1 174609954 critical splice donor site probably null
R0403:Fmn2 UTSW 1 174694278 missense probably damaging 1.00
R0491:Fmn2 UTSW 1 174581959 missense unknown
R0898:Fmn2 UTSW 1 174503460 missense unknown
R1202:Fmn2 UTSW 1 174612535 nonsense probably null
R1719:Fmn2 UTSW 1 174608458 unclassified probably benign
R1763:Fmn2 UTSW 1 174502266 missense unknown
R1771:Fmn2 UTSW 1 174608776 unclassified probably benign
R1777:Fmn2 UTSW 1 174581922 missense unknown
R1831:Fmn2 UTSW 1 174609945 missense probably benign 0.38
R2259:Fmn2 UTSW 1 174502932 missense unknown
R2960:Fmn2 UTSW 1 174609819 missense probably damaging 1.00
R3545:Fmn2 UTSW 1 174502626 missense unknown
R3840:Fmn2 UTSW 1 174582033 frame shift probably null
R4207:Fmn2 UTSW 1 174581955 missense unknown
R4679:Fmn2 UTSW 1 174503162 missense unknown
R4779:Fmn2 UTSW 1 174609895 missense probably damaging 1.00
R4887:Fmn2 UTSW 1 174581961 missense unknown
R4926:Fmn2 UTSW 1 174502415 missense unknown
R5007:Fmn2 UTSW 1 174744300 missense probably damaging 1.00
R5247:Fmn2 UTSW 1 174821228 missense probably benign 0.04
R5324:Fmn2 UTSW 1 174608880 unclassified probably benign
R5353:Fmn2 UTSW 1 174503006 missense unknown
R5420:Fmn2 UTSW 1 174698778 nonsense probably null
R5607:Fmn2 UTSW 1 174609811 missense probably damaging 0.97
R5668:Fmn2 UTSW 1 174582037 missense unknown
R5982:Fmn2 UTSW 1 174502453 missense unknown
R6148:Fmn2 UTSW 1 174666663 missense probably damaging 1.00
R6324:Fmn2 UTSW 1 174612553 missense possibly damaging 0.87
R6466:Fmn2 UTSW 1 174609583 unclassified probably benign
R6647:Fmn2 UTSW 1 174593104 missense unknown
R6835:Fmn2 UTSW 1 174699669 missense probably damaging 1.00
R7231:Fmn2 UTSW 1 174609203 unclassified probably benign
R7340:Fmn2 UTSW 1 174609203 unclassified probably benign
R7378:Fmn2 UTSW 1 174609203 unclassified probably benign
R7457:Fmn2 UTSW 1 174503737 intron probably null
R7474:Fmn2 UTSW 1 174609203 unclassified probably benign
R7564:Fmn2 UTSW 1 174609574 missense unknown
R7582:Fmn2 UTSW 1 174698790 missense probably damaging 1.00
R7748:Fmn2 UTSW 1 174666649 missense probably damaging 1.00
R7832:Fmn2 UTSW 1 174609203 unclassified probably benign
R8035:Fmn2 UTSW 1 174719871 missense probably damaging 1.00
RF010:Fmn2 UTSW 1 174582015 missense unknown
Z1176:Fmn2 UTSW 1 174608394 missense unknown
Posted On2015-04-16