Incidental Mutation 'R7824:Fmnl2'
ID 602051
Institutional Source Beutler Lab
Gene Symbol Fmnl2
Ensembl Gene ENSMUSG00000036053
Gene Name formin-like 2
Synonyms man, 5430425K04Rik
MMRRC Submission 045878-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7824 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 52747872-53023816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 52963692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 275 (L275F)
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: L275F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: L275F

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: L275F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: L275F

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: L275F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: L275F

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: L275F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: L275F

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: L275F
SMART Domains Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: L275F

DomainStartEndE-ValueType
Pfam:FH2 1 131 2e-33 PFAM
Meta Mutation Damage Score 0.1901 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (65/65)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7a T C 15: 77,273,275 (GRCm39) R396G probably damaging Het
Arhgap40 A T 2: 158,376,666 (GRCm39) R267S probably damaging Het
Asb5 A C 8: 55,037,827 (GRCm39) H173P Het
Atp6v0a2 A G 5: 124,779,443 (GRCm39) E186G probably damaging Het
Bbs2 A T 8: 94,816,388 (GRCm39) probably null Het
Bub1b T G 2: 118,457,448 (GRCm39) probably null Het
Capn7 A G 14: 31,074,367 (GRCm39) T257A probably benign Het
Chrna6 T C 8: 27,897,392 (GRCm39) I162V probably damaging Het
Cldn6 T A 17: 23,900,581 (GRCm39) C182S probably damaging Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Cysltr2 A G 14: 73,267,203 (GRCm39) I169T probably benign Het
Ddx11 T C 17: 66,437,543 (GRCm39) probably null Het
Efhc1 A T 1: 21,049,685 (GRCm39) Y515F probably damaging Het
Farsb T C 1: 78,445,936 (GRCm39) N148D probably benign Het
Gfpt2 T G 11: 49,715,268 (GRCm39) I421R probably damaging Het
Gm8297 A G 14: 16,167,939 (GRCm39) N193S possibly damaging Het
Hic1 C T 11: 75,057,042 (GRCm39) V616M possibly damaging Het
Ica1l T G 1: 60,047,029 (GRCm39) M241L probably benign Het
Ighg3 A T 12: 113,323,426 (GRCm39) D283E Het
Ing1 A G 8: 11,611,814 (GRCm39) E178G probably benign Het
Ism2 A C 12: 87,326,634 (GRCm39) V435G probably damaging Het
Klhdc2 A G 12: 69,354,002 (GRCm39) H271R probably damaging Het
Lama1 T A 17: 68,111,468 (GRCm39) S2240T Het
Lrp2 T A 2: 69,331,883 (GRCm39) E1624V possibly damaging Het
Map3k21 C G 8: 126,637,702 (GRCm39) P96R probably benign Het
Mfge8 G T 7: 78,795,135 (GRCm39) probably null Het
Mical2 T A 7: 112,006,844 (GRCm39) Y588N probably damaging Het
Mrps15 A T 4: 125,945,170 (GRCm39) N119I probably damaging Het
Mybpc2 G A 7: 44,154,284 (GRCm39) probably null Het
Myo9a T A 9: 59,767,392 (GRCm39) H865Q probably damaging Het
Odf4 A T 11: 68,812,898 (GRCm39) S253R probably benign Het
Or6c5c A G 10: 129,298,665 (GRCm39) N40S probably damaging Het
Ovch2 A G 7: 107,388,295 (GRCm39) probably null Het
Pax8 A G 2: 24,325,913 (GRCm39) S324P possibly damaging Het
Plau A G 14: 20,892,393 (GRCm39) S393G probably benign Het
Primpol G T 8: 47,039,459 (GRCm39) P387Q probably damaging Het
Prph2 T C 17: 47,221,732 (GRCm39) L37S possibly damaging Het
Rapgefl1 A G 11: 98,741,980 (GRCm39) N648S probably damaging Het
Rin2 T A 2: 145,703,037 (GRCm39) S533T probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Setd6 A T 8: 96,442,866 (GRCm39) H101L probably benign Het
Sez6 T C 11: 77,865,375 (GRCm39) S671P probably damaging Het
Slc22a3 G T 17: 12,683,350 (GRCm39) A171E probably damaging Het
Son T C 16: 91,453,416 (GRCm39) L721S probably damaging Het
Spata31d1b A T 13: 59,865,047 (GRCm39) R732W possibly damaging Het
Speg T A 1: 75,360,661 (GRCm39) probably null Het
Srd5a3 T A 5: 76,302,618 (GRCm39) F328I probably damaging Het
Tbc1d2 C T 4: 46,637,746 (GRCm39) probably null Het
Tfap2b G A 1: 19,304,531 (GRCm39) G447D probably damaging Het
Thoc3 A C 13: 54,611,591 (GRCm39) F232C probably damaging Het
Togaram2 T A 17: 72,011,746 (GRCm39) M476K probably benign Het
Tpgs2 G T 18: 25,262,922 (GRCm39) F232L probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Tube1 A G 10: 39,018,294 (GRCm39) I124V probably benign Het
Ubr5 A T 15: 37,991,566 (GRCm39) H1992Q probably damaging Het
Utrn G A 10: 12,362,354 (GRCm39) R2660C probably damaging Het
Vcan T C 13: 89,836,773 (GRCm39) T2924A probably damaging Het
Vmn2r120 T C 17: 57,832,942 (GRCm39) Y79C probably damaging Het
Vwa8 T C 14: 79,275,587 (GRCm39) V790A probably benign Het
Vwf A G 6: 125,635,778 (GRCm39) K270E Het
Zfp874b A G 13: 67,622,093 (GRCm39) F402L 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
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
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'- AGGGAGATTTCAGGATGTGC -3'
(R):5'- CTAAAATCACTGCTTCGCTCTCAG -3'

Sequencing Primer
(F):5'- TGCTATTCCTCAGTTACCGAGAG -3'
(R):5'- GCTCTCAGTAATGCCTCAGG -3'
Posted On 2019-12-03