Incidental Mutation 'R2012:Fmnl2'
ID 219858
Institutional Source Beutler Lab
Gene Symbol Fmnl2
Ensembl Gene ENSMUSG00000036053
Gene Name formin-like 2
Synonyms man, 5430425K04Rik
MMRRC Submission 040021-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2012 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 52747872-53023816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52995549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 424 (E424G)
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: E424G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: E424G

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: E424G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: E424G

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: E424G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: E424G

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: E424G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: E424G

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 probably damaging
Transcript: ENSMUST00000155586
AA Change: E424G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: E424G

DomainStartEndE-ValueType
Pfam:FH2 1 131 2e-33 PFAM
Meta Mutation Damage Score 0.6222 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.6%
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A T 5: 8,167,634 (GRCm39) S675R probably damaging Het
Akap5 A T 12: 76,376,122 (GRCm39) H518L possibly damaging Het
Ankfn1 T C 11: 89,296,423 (GRCm39) D102G probably damaging Het
Aox3 A T 1: 58,177,391 (GRCm39) Y202F probably benign Het
Arhgef37 G A 18: 61,637,427 (GRCm39) L412F possibly damaging Het
B4galt3 C T 1: 171,100,118 (GRCm39) P121L probably damaging Het
BC034090 C T 1: 155,097,178 (GRCm39) R640Q probably damaging Het
Bhmt A T 13: 93,761,900 (GRCm39) Y128N probably damaging Het
Bin3 A G 14: 70,372,222 (GRCm39) E173G probably damaging Het
C1qtnf1 T A 11: 118,339,110 (GRCm39) F260Y probably benign Het
Ccdc14 G T 16: 34,511,092 (GRCm39) G22V possibly damaging Het
Ccnc A T 4: 21,741,955 (GRCm39) I135L possibly damaging Het
Chd3 T C 11: 69,239,878 (GRCm39) D1650G probably benign Het
Cherp A C 8: 73,228,613 (GRCm39) N14K probably damaging Het
Clint1 C T 11: 45,784,919 (GRCm39) T306I possibly damaging Het
Cyb5r1 T A 1: 134,335,315 (GRCm39) Y85N probably damaging Het
D830013O20Rik A G 12: 73,418,162 (GRCm39) noncoding transcript Het
Dapk1 A T 13: 60,869,671 (GRCm39) K304N probably damaging Het
Dnah6 T A 6: 73,044,449 (GRCm39) N3169Y probably damaging Het
Dync2h1 A T 9: 7,169,589 (GRCm39) I296K probably benign Het
Elp2 A T 18: 24,764,515 (GRCm39) T621S probably benign Het
Eml6 G T 11: 29,781,128 (GRCm39) Q635K possibly damaging Het
Exph5 G A 9: 53,278,466 (GRCm39) M192I possibly damaging Het
Gas6 C T 8: 13,518,266 (GRCm39) V523M probably damaging Het
Ggn A T 7: 28,873,188 (GRCm39) probably null Het
Gimap8 A G 6: 48,633,287 (GRCm39) T369A probably damaging Het
Grm5 T C 7: 87,724,080 (GRCm39) I790T probably damaging Het
Gtpbp6 G A 5: 110,252,790 (GRCm39) A354V probably damaging Het
Habp4 G A 13: 64,317,995 (GRCm39) probably null Het
Has2 A G 15: 56,531,264 (GRCm39) W484R probably damaging Het
Herc4 G T 10: 63,079,817 (GRCm39) probably benign Het
Igf2 C A 7: 142,208,136 (GRCm39) E106D probably damaging Het
Il17rb A T 14: 29,718,797 (GRCm39) C428* probably null Het
Ipo11 A T 13: 107,056,130 (GRCm39) N47K probably benign Het
Itga4 T G 2: 79,108,138 (GRCm39) S197A probably damaging Het
Itpr1 T A 6: 108,417,497 (GRCm39) M1788K probably benign Het
Kbtbd3 C T 9: 4,330,919 (GRCm39) T431I probably benign Het
Kif5a A T 10: 127,075,044 (GRCm39) V523E probably benign Het
Klhl41 A T 2: 69,513,840 (GRCm39) D573V possibly damaging Het
Kndc1 C A 7: 139,501,196 (GRCm39) H828Q possibly damaging Het
Leng8 T A 7: 4,146,609 (GRCm39) V407D probably damaging Het
Mamdc2 C T 19: 23,288,215 (GRCm39) E608K probably benign Het
Mcf2 T A X: 59,122,574 (GRCm39) R850S probably damaging Het
Mmp2 A G 8: 93,576,831 (GRCm39) N618S probably benign Het
Morn5 A T 2: 35,942,950 (GRCm39) M17L probably benign Het
Nme8 T C 13: 19,881,053 (GRCm39) N26S probably damaging Het
Nostrin C A 2: 68,975,111 (GRCm39) probably null Het
Npy4r T A 14: 33,869,154 (GRCm39) I45F possibly damaging Het
Or13a21 T A 7: 139,999,024 (GRCm39) I221F probably damaging Het
Or1j11 A G 2: 36,311,931 (GRCm39) I174V probably benign Het
Or2aj5 C T 16: 19,424,881 (GRCm39) C179Y probably benign Het
Or2w1 T A 13: 21,317,659 (GRCm39) M238K probably benign Het
Or2w3b T C 11: 58,623,214 (GRCm39) Y259C possibly damaging Het
Or4a70 A G 2: 89,324,342 (GRCm39) F105L probably benign Het
Or5d36 A G 2: 87,901,063 (GRCm39) V221A probably benign Het
Oxt A G 2: 130,418,572 (GRCm39) D61G probably damaging Het
Patl1 T C 19: 11,917,181 (GRCm39) L676P probably damaging Het
Pcdhb20 G A 18: 37,638,127 (GRCm39) G218R probably damaging Het
Pdgfrb T A 18: 61,194,566 (GRCm39) S114R probably benign Het
Pfdn5 A G 15: 102,234,956 (GRCm39) N54S possibly damaging Het
Phldb1 G T 9: 44,639,333 (GRCm39) T15N possibly damaging Het
Pink1 A C 4: 138,045,316 (GRCm39) S253A probably null Het
Plag1 A T 4: 3,904,870 (GRCm39) L107Q probably damaging Het
Pld5 C A 1: 175,791,579 (GRCm39) V476L probably benign Het
Pramel28 A T 4: 143,692,637 (GRCm39) D121E probably benign Het
Prrt2 C T 7: 126,618,581 (GRCm39) A295T probably damaging Het
Ptgs1 A G 2: 36,127,668 (GRCm39) I76V probably benign Het
Ptprz1 A G 6: 23,001,026 (GRCm39) T1039A probably benign Het
Rbm20 G A 19: 53,847,859 (GRCm39) C1135Y probably damaging Het
Recql5 A T 11: 115,787,923 (GRCm39) N465K probably benign Het
Rgs12 A G 5: 35,187,872 (GRCm39) S510G probably benign Het
Satb1 G A 17: 52,089,816 (GRCm39) Q344* probably null Het
Sdr16c5 A G 4: 3,996,244 (GRCm39) I283T probably benign Het
Serpinb3c T C 1: 107,199,574 (GRCm39) S316G possibly damaging Het
Siglec1 A T 2: 130,925,277 (GRCm39) Y395N probably damaging Het
Simc1 A G 13: 54,651,701 (GRCm39) I5V probably benign Het
Slc27a2 T C 2: 126,395,535 (GRCm39) V154A probably damaging Het
Slc27a5 A G 7: 12,731,634 (GRCm39) L119S probably damaging Het
Slc35g2 T A 9: 100,435,120 (GRCm39) T184S possibly damaging Het
Slc4a7 C T 14: 14,733,727 (GRCm38) R46* probably null Het
Smcr8 T C 11: 60,669,010 (GRCm39) F53L probably damaging Het
Spag9 T A 11: 93,983,201 (GRCm39) L504* probably null Het
Spata31d1a A G 13: 59,850,370 (GRCm39) I586T possibly damaging Het
Spata31d1c A T 13: 65,183,041 (GRCm39) E194D possibly damaging Het
Spats2 A G 15: 99,076,375 (GRCm39) E151G probably damaging Het
Sugp2 T A 8: 70,695,861 (GRCm39) L278Q possibly damaging Het
Sult2a7 T A 7: 14,207,322 (GRCm39) probably benign Het
Syde2 G T 3: 145,694,163 (GRCm39) G137V possibly damaging Het
Synj1 A T 16: 90,735,584 (GRCm39) F1456L probably damaging Het
Szt2 A G 4: 118,220,862 (GRCm39) probably benign Het
Timd4 C A 11: 46,710,857 (GRCm39) T253K possibly damaging Het
Tlr3 G T 8: 45,855,823 (GRCm39) T119N possibly damaging Het
Tmc6 A G 11: 117,660,232 (GRCm39) Y669H probably damaging Het
Tmem221 T C 8: 72,008,458 (GRCm39) E194G probably benign Het
Tmem232 C A 17: 65,807,167 (GRCm39) V9F probably benign Het
Tpm1 G A 9: 66,941,247 (GRCm39) Q135* probably null Het
Trank1 A G 9: 111,194,096 (GRCm39) T707A probably benign Het
Trpm7 A T 2: 126,665,917 (GRCm39) Y896* probably null Het
Tuba4a A T 1: 75,192,983 (GRCm39) Y210* probably null Het
Tut7 A G 13: 59,959,352 (GRCm39) V372A probably damaging Het
Vegfa T G 17: 46,336,284 (GRCm39) I279L probably benign Het
Vmn2r54 T A 7: 12,349,804 (GRCm39) T593S probably damaging Het
Vmn2r93 A G 17: 18,536,840 (GRCm39) I508V probably benign Het
Vps33a G T 5: 123,669,244 (GRCm39) probably null Het
Wasl T A 6: 24,624,360 (GRCm39) N231I probably damaging Het
Zbtb39 A G 10: 127,578,703 (GRCm39) N426D probably benign Het
Zeb2 T G 2: 44,887,962 (GRCm39) H350P probably damaging Het
Zfp112 T C 7: 23,824,725 (GRCm39) F231S possibly damaging Het
Zfp180 T C 7: 23,803,943 (GRCm39) S121P 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
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
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'- ACTATATGCAAGACTCTGGTGGG -3'
(R):5'- TGCACACACGTGTACACATGTAG -3'

Sequencing Primer
(F):5'- CAAGACTCTGGTGGGTCCTTG -3'
(R):5'- CACACGTGTACACATGTAGTATGAG -3'
Posted On 2014-08-25