Incidental Mutation 'R0025:Fmn2'
ID 40741
Institutional Source Beutler Lab
Gene Symbol Fmn2
Ensembl Gene ENSMUSG00000028354
Gene Name formin 2
Synonyms
MMRRC Submission 038320-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.816) question?
Stock # R0025 (G1)
Quality Score 220
Status Validated
Chromosome 1
Chromosomal Location 174329391-174650295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 174618880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1512 (V1512A)
Ref Sequence ENSEMBL: ENSMUSP00000030039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030039]
AlphaFold Q9JL04
Predicted Effect probably damaging
Transcript: ENSMUST00000030039
AA Change: V1512A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: V1512A

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: ENSMUST00000193905
Meta Mutation Damage Score 0.2453 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.3%
Validation Efficiency 98% (115/117)
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 A T 7: 119,257,538 (GRCm39) T435S probably damaging Het
Agtpbp1 G A 13: 59,648,014 (GRCm39) T602I probably benign Het
Ahnak2 T A 12: 112,749,154 (GRCm39) D231V probably damaging Het
Ampd3 G A 7: 110,392,876 (GRCm39) D215N probably benign Het
Ankrd17 T C 5: 90,398,264 (GRCm39) D1762G probably damaging Het
Asb8 C T 15: 98,040,552 (GRCm39) V37I possibly damaging Het
Bicra T C 7: 15,721,436 (GRCm39) T694A possibly damaging Het
Btnl6 A T 17: 34,733,273 (GRCm39) M234K probably benign Het
Ccnb1 A T 13: 100,916,289 (GRCm39) V336D probably damaging Het
Cdca8 A T 4: 124,815,047 (GRCm39) L190Q possibly damaging Het
Cep290 A T 10: 100,373,693 (GRCm39) L1324F probably damaging Het
Ces1f T C 8: 93,998,513 (GRCm39) E161G probably benign Het
Ces2g A G 8: 105,692,628 (GRCm39) probably benign Het
Cfap74 C T 4: 155,510,572 (GRCm39) R386C probably benign Het
Clec3b A G 9: 122,986,090 (GRCm39) T163A probably benign Het
Cntnap4 T G 8: 113,529,796 (GRCm39) L668R probably damaging Het
Col27a1 A G 4: 63,194,214 (GRCm39) D857G probably damaging Het
Csf1 A G 3: 107,655,960 (GRCm39) V245A probably benign Het
Ctss A G 3: 95,457,448 (GRCm39) Y302C probably damaging Het
Cyb5d1 A G 11: 69,285,792 (GRCm39) probably null Het
Cyp1a2 A G 9: 57,589,344 (GRCm39) S157P probably damaging Het
Cyp2b9 A T 7: 25,900,238 (GRCm39) T349S probably benign Het
Dennd6b T C 15: 89,070,386 (GRCm39) I428V probably benign Het
Denr A G 5: 124,065,298 (GRCm39) probably benign Het
Dnah9 G A 11: 65,860,781 (GRCm39) probably benign Het
Dock3 G T 9: 106,790,467 (GRCm39) Q1419K possibly damaging Het
Dph3b-ps A T 13: 106,683,375 (GRCm39) noncoding transcript Het
Emc7 G T 2: 112,289,830 (GRCm39) D87Y probably damaging Het
Enah T C 1: 181,740,938 (GRCm39) E462G possibly damaging Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Enpp6 A G 8: 47,519,035 (GRCm39) K268E probably damaging Het
Eps15l1 T G 8: 73,135,341 (GRCm39) probably benign Het
Fam151a T C 4: 106,605,371 (GRCm39) Y578H probably benign Het
Focad C A 4: 88,327,196 (GRCm39) N168K probably benign Het
Fyco1 A G 9: 123,658,074 (GRCm39) C701R probably damaging Het
Gabbr1 G T 17: 37,378,102 (GRCm39) probably benign Het
Golga7b A T 19: 42,255,278 (GRCm39) E76V probably damaging Het
Gucy2d A G 7: 98,116,959 (GRCm39) D924G probably benign Het
H2-M9 A G 17: 36,952,647 (GRCm39) F133S probably damaging Het
Hc A G 2: 34,876,304 (GRCm39) Y1581H probably damaging Het
Herc3 C T 6: 58,851,293 (GRCm39) P514L probably damaging Het
Hormad1 T C 3: 95,492,436 (GRCm39) probably benign Het
Iigp1 T A 18: 60,523,859 (GRCm39) S326T possibly damaging Het
Itga2 G A 13: 115,007,032 (GRCm39) S432L possibly damaging Het
Kcnk7 T G 19: 5,757,042 (GRCm39) *344G probably null Het
Kif13a A G 13: 46,939,987 (GRCm39) probably null Het
Kif1a A C 1: 92,970,080 (GRCm39) I1027S probably damaging Het
Kif2c G T 4: 117,022,714 (GRCm39) H416Q probably damaging Het
Liat1 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 11: 75,890,941 (GRCm39) probably benign Het
Map3k1 A G 13: 111,892,663 (GRCm39) V864A probably benign Het
Mark2 T C 19: 7,263,287 (GRCm39) D160G probably damaging Het
Mbd4 A G 6: 115,821,529 (GRCm39) probably null Het
Micu1 A G 10: 59,624,699 (GRCm39) probably null Het
Mink1 T C 11: 70,503,868 (GRCm39) W1263R probably damaging Het
Mov10 A C 3: 104,711,919 (GRCm39) L224R probably damaging Het
Ndel1 T C 11: 68,726,999 (GRCm39) E226G probably damaging Het
Neb A T 2: 52,112,786 (GRCm39) V4336E probably damaging Het
Nln T A 13: 104,173,399 (GRCm39) K602N probably damaging Het
Nlrp14 A T 7: 106,780,465 (GRCm39) probably benign Het
Nmd3 A T 3: 69,655,654 (GRCm39) D445V probably damaging Het
Nop14 T C 5: 34,801,297 (GRCm39) I625V probably benign Het
Notch1 T C 2: 26,360,943 (GRCm39) Q1134R probably damaging Het
Nr4a2 T C 2: 56,998,627 (GRCm39) I392M probably benign Het
Or13n4 A G 7: 106,422,963 (GRCm39) F257L possibly damaging Het
Or4f6 T A 2: 111,839,365 (GRCm39) L55F probably damaging Het
Or8b57 A G 9: 40,003,549 (GRCm39) S234P probably damaging Het
Osbp T C 19: 11,961,322 (GRCm39) Y454H probably damaging Het
Pak4 G A 7: 28,263,708 (GRCm39) R343C probably damaging Het
Pak5 T C 2: 135,942,704 (GRCm39) K479E possibly damaging Het
Pard3 C A 8: 127,888,058 (GRCm39) D73E probably damaging Het
Pcdh10 T C 3: 45,334,934 (GRCm39) V416A possibly damaging Het
Plek A C 11: 16,935,594 (GRCm39) W261G probably damaging Het
Pmp22 A T 11: 63,049,076 (GRCm39) probably null Het
Prph2 A C 17: 47,230,697 (GRCm39) K197Q probably benign Het
Prss45 T A 9: 110,669,962 (GRCm39) L257Q probably damaging Het
Psmb6 C A 11: 70,417,171 (GRCm39) H73Q probably benign Het
Rin2 T C 2: 145,720,752 (GRCm39) probably benign Het
Rps6kb1 A T 11: 86,402,413 (GRCm39) probably null Het
Scn10a C A 9: 119,499,550 (GRCm39) D248Y probably damaging Het
Scn4a C T 11: 106,215,386 (GRCm39) V1197I probably benign Het
Siglecf A T 7: 43,001,349 (GRCm39) I106F probably benign Het
Sik1 A G 17: 32,066,249 (GRCm39) probably benign Het
Slc22a21 T G 11: 53,870,514 (GRCm39) N57T probably damaging Het
Slc36a2 A G 11: 55,053,621 (GRCm39) L339P probably damaging Het
Slc4a9 G T 18: 36,664,719 (GRCm39) probably benign Het
Smg1 G A 7: 117,811,666 (GRCm39) T104I possibly damaging Het
Stc2 A T 11: 31,315,559 (GRCm39) probably null Het
Stx18 T A 5: 38,249,908 (GRCm39) Y74N probably damaging Het
Stxbp5 A T 10: 9,638,492 (GRCm39) H1102Q probably damaging Het
Tnfaip8l2 G A 3: 95,047,339 (GRCm39) L175F probably damaging Het
Tom1l2 T C 11: 60,120,960 (GRCm39) K450E probably damaging Het
Tpo T C 12: 30,150,389 (GRCm39) Q497R probably benign Het
Tprg1l G T 4: 154,244,802 (GRCm39) probably benign Het
Triml2 A G 8: 43,638,469 (GRCm39) M146V probably benign Het
Tsc2 A G 17: 24,849,978 (GRCm39) probably benign Het
Tut7 A T 13: 59,953,142 (GRCm39) D99E probably benign Het
Vit G A 17: 78,907,264 (GRCm39) G229R probably benign Het
Vmn2r19 C T 6: 123,308,506 (GRCm39) L528F probably benign Het
Vwf T A 6: 125,659,775 (GRCm39) I2658N probably benign Het
Wdfy3 T C 5: 101,992,912 (GRCm39) D3341G probably damaging Het
Wdr36 T A 18: 32,992,360 (GRCm39) D632E probably damaging Het
Wdr47 G T 3: 108,545,307 (GRCm39) A733S probably damaging Het
Zfp458 T A 13: 67,405,962 (GRCm39) H156L probably damaging Het
Zfp654 A G 16: 64,605,181 (GRCm39) V466A probably benign Het
Zfp804b T C 5: 6,821,665 (GRCm39) E466G probably damaging Het
Zfp941 T C 7: 140,393,185 (GRCm39) D58G probably benign Het
Other mutations in Fmn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Fmn2 APN 1 174,330,885 (GRCm39) missense unknown
IGL01085:Fmn2 APN 1 174,523,220 (GRCm39) missense probably damaging 1.00
IGL01784:Fmn2 APN 1 174,329,994 (GRCm39) missense unknown
IGL02095:Fmn2 APN 1 174,330,167 (GRCm39) missense unknown
IGL02330:Fmn2 APN 1 174,437,511 (GRCm39) missense probably benign 0.38
IGL02552:Fmn2 APN 1 174,523,286 (GRCm39) missense probably damaging 1.00
IGL02835:Fmn2 UTSW 1 174,409,625 (GRCm39) missense unknown
PIT4498001:Fmn2 UTSW 1 174,440,170 (GRCm39) missense probably damaging 1.00
PIT4677001:Fmn2 UTSW 1 174,474,699 (GRCm39) missense probably damaging 1.00
R0062:Fmn2 UTSW 1 174,436,015 (GRCm39) unclassified probably benign
R0062:Fmn2 UTSW 1 174,436,015 (GRCm39) unclassified probably benign
R0306:Fmn2 UTSW 1 174,437,050 (GRCm39) unclassified probably benign
R0325:Fmn2 UTSW 1 174,437,520 (GRCm39) critical splice donor site probably null
R0403:Fmn2 UTSW 1 174,521,844 (GRCm39) missense probably damaging 1.00
R0491:Fmn2 UTSW 1 174,409,525 (GRCm39) missense unknown
R0898:Fmn2 UTSW 1 174,331,026 (GRCm39) missense unknown
R1202:Fmn2 UTSW 1 174,440,101 (GRCm39) nonsense probably null
R1719:Fmn2 UTSW 1 174,436,024 (GRCm39) unclassified probably benign
R1763:Fmn2 UTSW 1 174,329,832 (GRCm39) missense unknown
R1771:Fmn2 UTSW 1 174,436,342 (GRCm39) unclassified probably benign
R1777:Fmn2 UTSW 1 174,409,488 (GRCm39) missense unknown
R1831:Fmn2 UTSW 1 174,437,511 (GRCm39) missense probably benign 0.38
R2259:Fmn2 UTSW 1 174,330,498 (GRCm39) missense unknown
R2960:Fmn2 UTSW 1 174,437,385 (GRCm39) missense probably damaging 1.00
R3545:Fmn2 UTSW 1 174,330,192 (GRCm39) missense unknown
R3840:Fmn2 UTSW 1 174,409,599 (GRCm39) frame shift probably null
R4207:Fmn2 UTSW 1 174,409,521 (GRCm39) missense unknown
R4679:Fmn2 UTSW 1 174,330,728 (GRCm39) missense unknown
R4779:Fmn2 UTSW 1 174,437,461 (GRCm39) missense probably damaging 1.00
R4887:Fmn2 UTSW 1 174,409,527 (GRCm39) missense unknown
R4926:Fmn2 UTSW 1 174,329,981 (GRCm39) missense unknown
R5007:Fmn2 UTSW 1 174,571,866 (GRCm39) missense probably damaging 1.00
R5247:Fmn2 UTSW 1 174,648,794 (GRCm39) missense probably benign 0.04
R5324:Fmn2 UTSW 1 174,436,446 (GRCm39) unclassified probably benign
R5353:Fmn2 UTSW 1 174,330,572 (GRCm39) missense unknown
R5420:Fmn2 UTSW 1 174,526,344 (GRCm39) nonsense probably null
R5607:Fmn2 UTSW 1 174,437,377 (GRCm39) missense probably damaging 0.97
R5668:Fmn2 UTSW 1 174,409,603 (GRCm39) missense unknown
R5982:Fmn2 UTSW 1 174,330,019 (GRCm39) missense unknown
R6148:Fmn2 UTSW 1 174,494,229 (GRCm39) missense probably damaging 1.00
R6324:Fmn2 UTSW 1 174,440,119 (GRCm39) missense possibly damaging 0.87
R6466:Fmn2 UTSW 1 174,437,149 (GRCm39) unclassified probably benign
R6647:Fmn2 UTSW 1 174,420,670 (GRCm39) missense unknown
R6835:Fmn2 UTSW 1 174,527,235 (GRCm39) missense probably damaging 1.00
R7231:Fmn2 UTSW 1 174,436,769 (GRCm39) unclassified probably benign
R7340:Fmn2 UTSW 1 174,436,769 (GRCm39) unclassified probably benign
R7378:Fmn2 UTSW 1 174,436,769 (GRCm39) unclassified probably benign
R7457:Fmn2 UTSW 1 174,331,303 (GRCm39) splice site probably null
R7474:Fmn2 UTSW 1 174,436,769 (GRCm39) unclassified probably benign
R7564:Fmn2 UTSW 1 174,437,140 (GRCm39) missense unknown
R7582:Fmn2 UTSW 1 174,526,356 (GRCm39) missense probably damaging 1.00
R7748:Fmn2 UTSW 1 174,494,215 (GRCm39) missense probably damaging 1.00
R7832:Fmn2 UTSW 1 174,436,769 (GRCm39) unclassified probably benign
R8035:Fmn2 UTSW 1 174,547,437 (GRCm39) missense probably damaging 1.00
R8203:Fmn2 UTSW 1 174,436,769 (GRCm39) unclassified probably benign
R8343:Fmn2 UTSW 1 174,436,769 (GRCm39) unclassified probably benign
R8371:Fmn2 UTSW 1 174,437,173 (GRCm39) missense unknown
R8377:Fmn2 UTSW 1 174,436,011 (GRCm39) nonsense probably null
R8543:Fmn2 UTSW 1 174,436,769 (GRCm39) unclassified probably benign
R8724:Fmn2 UTSW 1 174,436,769 (GRCm39) unclassified probably benign
R8726:Fmn2 UTSW 1 174,437,404 (GRCm39) missense possibly damaging 0.86
R8891:Fmn2 UTSW 1 174,436,769 (GRCm39) unclassified probably benign
R9074:Fmn2 UTSW 1 174,436,198 (GRCm39) missense unknown
R9167:Fmn2 UTSW 1 174,331,056 (GRCm39) missense unknown
R9489:Fmn2 UTSW 1 174,436,194 (GRCm39) nonsense probably null
R9598:Fmn2 UTSW 1 174,436,308 (GRCm39) missense unknown
R9605:Fmn2 UTSW 1 174,436,194 (GRCm39) nonsense probably null
R9698:Fmn2 UTSW 1 174,364,739 (GRCm39) missense unknown
RF010:Fmn2 UTSW 1 174,409,581 (GRCm39) missense unknown
Z1176:Fmn2 UTSW 1 174,435,960 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGCCCATTGGTAGTTTTCAGCATTGA -3'
(R):5'- ACTCCCAGCGGAGTGACACTTA -3'

Sequencing Primer
(F):5'- AGTTCATGTAGAGCTAGGATCATCG -3'
(R):5'- CAGCGGAGTGACACTTAATAAAAC -3'
Posted On 2013-05-23