Incidental Mutation 'R4607:Fmnl2'
ID 346056
Institutional Source Beutler Lab
Gene Symbol Fmnl2
Ensembl Gene ENSMUSG00000036053
Gene Name formin-like 2
Synonyms man, 5430425K04Rik
MMRRC Submission 041818-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4607 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 52747872-53023816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52993728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 374 (N374K)
Ref Sequence ENSEMBL: ENSMUSP00000057084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049483] [ENSMUST00000050719] [ENSMUST00000090952] [ENSMUST00000127122] [ENSMUST00000155586]
AlphaFold A2APV2
Predicted Effect possibly damaging
Transcript: ENSMUST00000049483
AA Change: N374K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: N374K

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 possibly damaging
Transcript: ENSMUST00000050719
AA Change: N374K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: N374K

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 possibly damaging
Transcript: ENSMUST00000090952
AA Change: N374K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: N374K

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: N374K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: N374K

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: N374K

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: N374K

DomainStartEndE-ValueType
Pfam:FH2 1 131 2e-33 PFAM
Meta Mutation Damage Score 0.4427 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (65/67)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T A 10: 106,802,890 (GRCm39) I452F possibly damaging Het
Adgra3 A C 5: 50,128,081 (GRCm39) V800G probably damaging Het
Aldh1a1 A T 19: 20,599,051 (GRCm39) Y154F probably benign Het
Bbs10 T G 10: 111,136,681 (GRCm39) I598S probably damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Ccnl1 C T 3: 65,854,131 (GRCm39) probably benign Het
Chrna9 A G 5: 66,134,078 (GRCm39) I310V possibly damaging Het
Cpeb3 A G 19: 37,152,239 (GRCm39) S46P possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlgap5 A G 14: 47,650,475 (GRCm39) I151T possibly damaging Het
Dsg4 C T 18: 20,604,302 (GRCm39) T923M probably damaging Het
Eif4g3 G T 4: 137,853,769 (GRCm39) R618L probably benign Het
Erlin1 C T 19: 44,051,474 (GRCm39) V76M probably damaging Het
Fam161a G A 11: 22,970,710 (GRCm39) S296N probably benign Het
Fam187b T A 7: 30,677,170 (GRCm39) N226K probably benign Het
Fes G A 7: 80,036,959 (GRCm39) R42W probably damaging Het
Fpgt G A 3: 154,792,333 (GRCm39) Q565* probably null Het
Gm26657 C A 4: 56,741,114 (GRCm39) H100N probably benign Het
Gna14 A G 19: 16,511,075 (GRCm39) probably null Het
Gsg1l T A 7: 125,557,721 (GRCm39) I136F probably damaging Het
Hhip C T 8: 80,724,192 (GRCm39) R350Q probably damaging Het
Ints10 G A 8: 69,263,271 (GRCm39) R394Q probably damaging Het
Ipo11 A G 13: 107,037,319 (GRCm39) S175P probably damaging Het
Klk13 C A 7: 43,363,284 (GRCm39) C10* probably null Het
Leng8 T A 7: 4,147,796 (GRCm39) I607N probably damaging Het
Map3k2 T C 18: 32,333,030 (GRCm39) L68P probably damaging Het
Memo1 G A 17: 74,565,456 (GRCm39) Q36* probably null Het
Mink1 A G 11: 70,496,893 (GRCm39) E417G possibly damaging Het
Myrf G T 19: 10,206,431 (GRCm39) D29E probably damaging Het
Nelfcd T A 2: 174,264,955 (GRCm39) D215E probably benign Het
Nostrin G A 2: 69,014,243 (GRCm39) V400M possibly damaging Het
Nrip1 T C 16: 76,089,920 (GRCm39) T546A probably benign Het
Or13a24 A G 7: 140,154,554 (GRCm39) M163V probably benign Het
Or1l4 T A 2: 37,092,094 (GRCm39) Y280* probably null Het
Or2h2b-ps1 A T 17: 37,481,173 (GRCm39) V20E probably damaging Het
Or4c114 G T 2: 88,904,656 (GRCm39) P260T probably benign Het
Or6aa1 A T 7: 86,043,718 (GRCm39) probably null Het
Or8g32 T C 9: 39,306,031 (GRCm39) *312Q probably null Het
P2ry6 A G 7: 100,587,511 (GRCm39) Y283H probably damaging Het
Pcdh9 T A 14: 93,253,009 (GRCm39) N1218I probably benign Het
Pcdhga6 A G 18: 37,841,671 (GRCm39) N464D probably damaging Het
Pramel52-ps G T 5: 94,531,387 (GRCm39) R90S probably benign Het
Rdx T A 9: 51,980,137 (GRCm39) S243R probably damaging Het
Rxfp1 T C 3: 79,594,196 (GRCm39) N66S probably damaging Het
Slit1 C A 19: 41,605,232 (GRCm39) R873L probably benign Het
Spata31e3 G A 13: 50,399,542 (GRCm39) T928I possibly damaging Het
Strc T A 2: 121,203,426 (GRCm39) I1130F probably benign Het
Tlk2 T A 11: 105,145,844 (GRCm39) L350Q probably damaging Het
Tmem74 G T 15: 43,730,554 (GRCm39) T163K probably damaging Het
Trav15-1-dv6-1 T A 14: 53,797,511 (GRCm39) H53Q probably benign Het
Trbv24 T C 6: 41,195,335 (GRCm39) probably benign Het
Uba2 T C 7: 33,854,021 (GRCm39) D307G probably damaging Het
Uty C T Y: 1,131,134 (GRCm39) R924Q probably damaging Het
Wdr7 C T 18: 63,910,651 (GRCm39) T681I probably benign Het
Zbtb42 C T 12: 112,646,976 (GRCm39) R384W probably damaging Het
Zfand4 T A 6: 116,305,195 (GRCm39) C207* probably null Het
Zfp512b C A 2: 181,230,567 (GRCm39) R441L probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- AATATGCCGCAATCCTCTTCG -3'
(R):5'- TGAACTCTGCTCATTTCTATGTCAG -3'

Sequencing Primer
(F):5'- CTCTTCGGGAGGATGTATTAAACTC -3'
(R):5'- ATTTCTATGTCAGACCCTTCCAC -3'
Posted On 2015-09-25