Incidental Mutation 'R7722:Fmnl2'
ID 595262
Institutional Source Beutler Lab
Gene Symbol Fmnl2
Ensembl Gene ENSMUSG00000036053
Gene Name formin-like 2
Synonyms man, 5430425K04Rik
MMRRC Submission 045778-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7722 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 52747872-53023816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 52944479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 153 (S153R)
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: S153R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: S153R

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: S153R

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: S153R

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: S153R

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: S153R

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: S153R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: S153R

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
SMART Domains Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: S153R

DomainStartEndE-ValueType
Pfam:FH2 1 131 2e-33 PFAM
Meta Mutation Damage Score 0.0803 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (57/58)
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
Afdn A G 17: 14,029,231 (GRCm39) E151G probably benign Het
Alpk2 A T 18: 65,483,228 (GRCm39) L260H probably damaging Het
Amh T C 10: 80,642,458 (GRCm39) V247A probably benign Het
Ank2 T A 3: 126,822,951 (GRCm39) I431L probably benign Het
Ano7 G A 1: 93,318,145 (GRCm39) A286T probably damaging Het
Atp8a1 T A 5: 67,780,041 (GRCm39) probably null Het
Brd1 A T 15: 88,613,762 (GRCm39) S378T probably damaging Het
Clrn1 T A 3: 58,753,755 (GRCm39) N202I possibly damaging Het
Cspp1 T C 1: 10,145,126 (GRCm39) V308A probably benign Het
Cyp2a5 T C 7: 26,536,543 (GRCm39) L174P probably benign Het
Ehbp1 G A 11: 22,039,572 (GRCm39) H843Y probably null Het
Fancm T A 12: 65,153,235 (GRCm39) D1230E probably damaging Het
Fbxl17 A T 17: 63,663,823 (GRCm39) N555K probably damaging Het
Fras1 G A 5: 96,917,413 (GRCm39) V3478M probably damaging Het
Gnptab T C 10: 88,215,390 (GRCm39) F37S probably damaging Het
Gpr183 T G 14: 122,192,270 (GRCm39) I84L probably damaging Het
Hcn1 A G 13: 118,039,314 (GRCm39) H410R unknown Het
Hmcn1 A G 1: 150,543,631 (GRCm39) V2848A probably damaging Het
Hmcn2 A T 2: 31,272,512 (GRCm39) R1331* probably null Het
Hsd17b4 A C 18: 50,279,591 (GRCm39) N190T probably damaging Het
Itprid2 T C 2: 79,492,689 (GRCm39) S1079P probably damaging Het
Kif14 A G 1: 136,396,033 (GRCm39) D113G probably benign Het
Kmt2e T G 5: 23,702,016 (GRCm39) D881E probably benign Het
Lamb1 T A 12: 31,373,570 (GRCm39) L1481Q probably damaging Het
Limk2 T C 11: 3,306,092 (GRCm39) probably null Het
Luc7l2 T A 6: 38,580,243 (GRCm39) S281T unknown Het
Map3k5 A G 10: 20,007,891 (GRCm39) D1240G probably benign Het
Med13l C A 5: 118,885,472 (GRCm39) T1475K probably benign Het
Med17 G T 9: 15,182,987 (GRCm39) Q353K probably benign Het
Mlh3 A G 12: 85,314,266 (GRCm39) V640A probably benign Het
Mms22l T A 4: 24,517,201 (GRCm39) Y361N probably damaging Het
Mtmr2 T A 9: 13,716,104 (GRCm39) N532K probably benign Het
Mtss1 G A 15: 58,926,935 (GRCm39) T47I probably damaging Het
Mturn T C 6: 54,676,545 (GRCm39) probably null Het
Muc20 A C 16: 32,617,756 (GRCm39) S3A probably benign Het
Nde1 T C 16: 14,008,128 (GRCm39) Y164H unknown Het
Neurl1b A G 17: 26,660,132 (GRCm39) T451A probably benign Het
Or52u1 C A 7: 104,237,505 (GRCm39) Q165K possibly damaging Het
Or8g18 A T 9: 39,148,885 (GRCm39) Y278* probably null Het
Pgap3 G A 11: 98,281,610 (GRCm39) A196V probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scart1 C A 7: 139,802,299 (GRCm39) C209* probably null Het
Sdcbp T A 4: 6,385,063 (GRCm39) V94E possibly damaging Het
Sgo2a T G 1: 58,055,696 (GRCm39) F627V probably benign Het
Skor2 A C 18: 76,950,339 (GRCm39) N889T probably benign Het
Slc35f4 A T 14: 49,543,731 (GRCm39) N288K probably benign Het
Slc9b2 T A 3: 135,035,596 (GRCm39) V355E probably null Het
Smarcc2 A G 10: 128,317,597 (GRCm39) E566G possibly damaging Het
Sorcs2 T C 5: 36,200,871 (GRCm39) E559G probably damaging Het
Sphkap T C 1: 83,256,642 (GRCm39) D369G probably benign Het
Stc1 T A 14: 69,269,729 (GRCm39) I103N possibly damaging Het
Stx8 T C 11: 68,094,544 (GRCm39) V219A probably damaging Het
Tg C T 15: 66,636,158 (GRCm39) R582C possibly damaging Het
Tshz2 T A 2: 169,727,192 (GRCm39) L596Q probably benign Het
Tti1 A G 2: 157,849,527 (GRCm39) Y571H probably benign Het
Zbtb40 A G 4: 136,718,829 (GRCm39) I956T probably damaging Het
Zfp990 A C 4: 145,263,532 (GRCm39) N177H possibly 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
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
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'- TGATTCTTTTGCCAGACCCAG -3'
(R):5'- TGATCCTGCCACTCCAAAGC -3'

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