Incidental Mutation 'R7691:Fmnl2'
ID 593375
Institutional Source Beutler Lab
Gene Symbol Fmnl2
Ensembl Gene ENSMUSG00000036053
Gene Name formin-like 2
Synonyms man, 5430425K04Rik
MMRRC Submission 045755-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7691 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 52747872-53023816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52991510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 342 (Y342N)
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: Y342N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: Y342N

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: Y342N

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: Y342N

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 damaging
Transcript: ENSMUST00000090952
AA Change: Y342N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: Y342N

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: Y342N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: Y342N

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 unknown
Transcript: ENSMUST00000155586
AA Change: Y342N
SMART Domains Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: Y342N

DomainStartEndE-ValueType
Pfam:FH2 1 131 2e-33 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 A T 6: 92,773,219 (GRCm39) C1763S probably damaging Het
Adcy3 T C 12: 4,256,540 (GRCm39) V782A probably benign Het
Arhgef17 G A 7: 100,578,849 (GRCm39) R700C probably damaging Het
Atxn2l T C 7: 126,091,782 (GRCm39) probably null Het
Bach2 A G 4: 32,580,271 (GRCm39) E832G probably damaging Het
Brpf3 G C 17: 29,025,805 (GRCm39) A293P probably damaging Het
Cacfd1 T C 2: 26,900,106 (GRCm39) L36P probably damaging Het
Camsap2 T C 1: 136,220,742 (GRCm39) E268G probably damaging Het
Ccnjl A T 11: 43,474,028 (GRCm39) Q201L probably benign Het
Cdan1 A G 2: 120,560,048 (GRCm39) V372A probably damaging Het
Cenpf C A 1: 189,390,404 (GRCm39) E1143* probably null Het
Colgalt1 A T 8: 72,073,398 (GRCm39) M340L probably benign Het
Crybg3 A G 16: 59,376,497 (GRCm39) Y1586H not run Het
Csmd3 A G 15: 47,604,569 (GRCm39) I1058T Het
Dock1 G A 7: 134,739,886 (GRCm39) probably null Het
Dzank1 G A 2: 144,348,091 (GRCm39) T225I probably damaging Het
Eif3c G A 7: 126,151,162 (GRCm39) R721W possibly damaging Het
Fdps A G 3: 89,006,674 (GRCm39) V72A probably benign Het
Filip1l A G 16: 57,392,796 (GRCm39) N1128S probably benign Het
Gria1 A T 11: 57,127,813 (GRCm39) I410F possibly damaging Het
Gsdmc4 C A 15: 63,765,640 (GRCm39) S303I probably damaging Het
Herc2 C T 7: 55,841,593 (GRCm39) P3491S probably benign Het
Ift25 A G 4: 107,130,886 (GRCm39) I59V probably benign Het
Lama2 T C 10: 27,084,389 (GRCm39) H927R possibly damaging Het
Lrrc8e T C 8: 4,284,534 (GRCm39) M253T probably damaging Het
Ltn1 G T 16: 87,195,574 (GRCm39) H1317Q probably damaging Het
Map6 C T 7: 98,985,499 (GRCm39) L671F possibly damaging Het
Mki67 C T 7: 135,303,721 (GRCm39) V716I not run Het
Mllt10 A G 2: 18,208,422 (GRCm39) S694G possibly damaging Het
Mllt10 G C 2: 18,208,423 (GRCm39) S694T probably null Het
Mtcl1 A G 17: 66,687,352 (GRCm39) L518S probably damaging Het
Or2ad1 G A 13: 21,327,140 (GRCm39) A29V probably benign Het
Pcdh10 G T 3: 45,335,632 (GRCm39) D649Y probably damaging Het
Pdgfrb C T 18: 61,194,340 (GRCm39) T39M probably benign Het
Pls1 T C 9: 95,655,726 (GRCm39) E342G probably benign Het
Pon1 C T 6: 5,175,819 (GRCm39) V235I probably benign Het
Rhobtb3 A T 13: 76,027,056 (GRCm39) V439E probably damaging Het
Septin8 A G 11: 53,428,414 (GRCm39) T355A probably benign Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Ssc5d C T 7: 4,947,168 (GRCm39) T1174I probably benign Het
Sspo A T 6: 48,461,163 (GRCm39) T3535S probably benign Het
Stk39 A G 2: 68,301,983 (GRCm39) V80A probably damaging Het
Sult2b1 T C 7: 45,384,708 (GRCm39) I123V probably benign Het
Sv2a A T 3: 96,095,727 (GRCm39) I348F probably benign Het
Taar8b T A 10: 23,967,436 (GRCm39) R253* probably null Het
Tbc1d4 T C 14: 101,745,077 (GRCm39) K183R probably damaging Het
Tet2 T A 3: 133,192,610 (GRCm39) D608V probably damaging Het
Tnfsf14 T A 17: 57,501,024 (GRCm39) T16S possibly damaging Het
Togaram2 A G 17: 72,023,405 (GRCm39) T774A probably benign Het
Tshr C A 12: 91,464,515 (GRCm39) A87E probably benign Het
Tsn T C 1: 118,237,505 (GRCm39) D53G probably benign Het
Usp37 TC T 1: 74,525,919 (GRCm39) probably null Het
Vav2 T A 2: 27,187,750 (GRCm39) probably null Het
Vmn2r52 T A 7: 9,893,109 (GRCm39) I677F probably damaging Het
Vmn2r65 T A 7: 84,592,851 (GRCm39) Y452F probably benign Het
Vmn2r79 A G 7: 86,687,111 (GRCm39) R831G probably damaging Het
Zfp821 T C 8: 110,447,871 (GRCm39) S71P probably damaging Het
Zwilch T A 9: 64,063,373 (GRCm39) I286F 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
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
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'- GGTGTGAATTAAGACTTGTGAAATG -3'
(R):5'- CGGCCCAGGAATTCTGTAAG -3'

Sequencing Primer
(F):5'- CTTGTGAAATGAAGTGCCTATTCTG -3'
(R):5'- GGCCCAGGAATTCTGTAAGTACTC -3'
Posted On 2019-11-12