Incidental Mutation 'R4608:Fmnl2'
ID 350859
Institutional Source Beutler Lab
Gene Symbol Fmnl2
Ensembl Gene ENSMUSG00000036053
Gene Name formin-like 2
Synonyms man, 5430425K04Rik
MMRRC Submission 041819-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4608 (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: 99.4%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (80/80)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik A G 11: 109,308,855 (GRCm39) I74V unknown Het
Acss3 T A 10: 106,802,890 (GRCm39) I452F possibly damaging Het
Adam10 T C 9: 70,651,173 (GRCm39) L66P probably damaging Het
Adamts18 A T 8: 114,464,245 (GRCm39) C738S probably damaging Het
Adamts7 T G 9: 90,056,593 (GRCm39) S221A probably damaging Het
Adrm1 A G 2: 179,816,648 (GRCm39) probably benign Het
Aqp1 T C 6: 55,313,624 (GRCm39) V50A possibly damaging Het
Aqp4 T C 18: 15,531,183 (GRCm39) I193V probably benign Het
B130006D01Rik A T 11: 95,617,066 (GRCm39) 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
Ccdc121rt2 A G 5: 112,597,764 (GRCm39) S104G possibly damaging Het
Ccnl1 C T 3: 65,854,131 (GRCm39) probably benign Het
Crocc2 G A 1: 93,096,516 (GRCm39) V24M possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dcdc2a T A 13: 25,245,223 (GRCm39) L100* probably null Het
Eif4g3 G T 4: 137,853,769 (GRCm39) R618L probably benign Het
F5 C T 1: 164,036,598 (GRCm39) P1920S probably benign Het
Fam187b T A 7: 30,677,170 (GRCm39) N226K probably benign Het
Fancc C A 13: 63,479,637 (GRCm39) probably benign Het
Fastk G T 5: 24,648,117 (GRCm39) P233H probably damaging Het
Fbn1 A C 2: 125,148,420 (GRCm39) D2609E 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
Gckr A G 5: 31,465,141 (GRCm39) D370G probably damaging Het
Ggt6 T C 11: 72,328,769 (GRCm39) M385T probably benign Het
Gm26657 C A 4: 56,741,114 (GRCm39) H100N probably benign 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
Ints1 C T 5: 139,745,599 (GRCm39) S1353N probably benign Het
Ints10 G A 8: 69,263,271 (GRCm39) R394Q probably damaging Het
Ints6 T G 14: 62,940,678 (GRCm39) R557S probably damaging Het
Ints9 T A 14: 65,269,729 (GRCm39) I473N possibly damaging Het
Itih4 G A 14: 30,623,626 (GRCm39) G915R probably damaging Het
Kif1a C A 1: 92,952,368 (GRCm39) A1304S possibly damaging Het
Kif21b C T 1: 136,075,924 (GRCm39) probably benign Het
Klk13 C A 7: 43,363,284 (GRCm39) C10* probably null Het
Krtap4-8 C T 11: 99,671,321 (GRCm39) probably benign Het
Lef1 T C 3: 130,978,382 (GRCm39) S167P probably benign Het
Leng8 T A 7: 4,147,796 (GRCm39) I607N probably damaging Het
Lrch4 T A 5: 137,637,408 (GRCm39) L526* probably null Het
Memo1 G A 17: 74,565,456 (GRCm39) Q36* probably null Het
Nod1 C A 6: 54,920,741 (GRCm39) A526S probably damaging 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
Nxf1 A G 19: 8,740,127 (GRCm39) D98G 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
Or2t1 A G 14: 14,328,887 (GRCm38) M259V probably benign Het
Or4c114 G T 2: 88,904,656 (GRCm39) P260T probably benign Het
Or6aa1 A T 7: 86,043,718 (GRCm39) probably null Het
Osgep T C 14: 51,155,378 (GRCm39) Y60C probably damaging Het
P2ry6 A G 7: 100,587,511 (GRCm39) Y283H probably damaging Het
Pcdha7 A T 18: 37,108,870 (GRCm39) S632C possibly damaging Het
Pms1 T A 1: 53,234,097 (GRCm39) R806S possibly damaging Het
Qars1 T A 9: 108,386,625 (GRCm39) probably null Het
Rxfp1 T C 3: 79,594,196 (GRCm39) N66S probably damaging Het
Slc12a5 A T 2: 164,815,685 (GRCm39) N67I probably damaging Het
Slc1a4 G T 11: 20,254,348 (GRCm39) T506K probably damaging Het
Stimate C A 14: 30,594,490 (GRCm39) probably benign Het
Tlr9 T A 9: 106,102,173 (GRCm39) I488N probably damaging Het
Tmem74 G T 15: 43,730,554 (GRCm39) T163K probably damaging 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
Xab2 A G 8: 3,668,105 (GRCm39) S158P probably benign Het
Ythdc1 T C 5: 86,970,667 (GRCm39) S418P probably damaging Het
Zfand4 T A 6: 116,305,195 (GRCm39) C207* probably null Het
Zfp367 C T 13: 64,283,238 (GRCm39) D305N probably damaging Het
Zfp804b C T 5: 6,822,584 (GRCm39) V160I 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
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'- ATATGCCGCAATCCTCTTCG -3'
(R):5'- TGAACTCTGCTCATTTCTATGTCAG -3'

Sequencing Primer
(F):5'- CTCTTCGGGAGGATGTATTAAACTC -3'
(R):5'- ATTTCTATGTCAGACCCTTCCAC -3'
Posted On 2015-10-08