Incidental Mutation 'R4947:Fmnl2'
ID 383473
Institutional Source Beutler Lab
Gene Symbol Fmnl2
Ensembl Gene ENSMUSG00000036053
Gene Name formin-like 2
Synonyms man, 5430425K04Rik
MMRRC Submission 042544-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4947 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 52747872-53023816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 52963722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 285 (S285A)
Ref Sequence ENSEMBL: ENSMUSP00000118658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049483] [ENSMUST00000050719] [ENSMUST00000090952] [ENSMUST00000127122] [ENSMUST00000155586]
AlphaFold A2APV2
Predicted Effect probably benign
Transcript: ENSMUST00000049483
AA Change: S285A

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: S285A

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: S285A

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: S285A

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 benign
Transcript: ENSMUST00000090952
AA Change: S285A

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: S285A

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 probably benign
Transcript: ENSMUST00000127122
AA Change: S285A

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: S285A

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 benign
Transcript: ENSMUST00000155586
AA Change: S285A

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: S285A

DomainStartEndE-ValueType
Pfam:FH2 1 131 2e-33 PFAM
Meta Mutation Damage Score 0.0858 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.4%
Validation Efficiency 100% (88/88)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 130,959,343 (GRCm39) H119L probably damaging Het
Acvr1c T A 2: 58,205,987 (GRCm39) Q41L probably benign Het
Adamtsl1 A T 4: 85,683,037 (GRCm39) Q36L possibly damaging Het
Bcl2a1a G A 9: 88,839,335 (GRCm39) E78K probably damaging Het
Cdk5rap2 A G 4: 70,146,829 (GRCm39) probably null Het
Copg1 C A 6: 87,880,455 (GRCm39) probably benign Het
Crb2 C T 2: 37,685,343 (GRCm39) probably benign Het
Cstdc6 T C 16: 36,142,127 (GRCm39) Y83C probably damaging Het
Ctbp2 C A 7: 132,601,012 (GRCm39) G584C probably damaging Het
Cyp11b2 T C 15: 74,723,419 (GRCm39) N415S possibly damaging Het
D630003M21Rik T A 2: 158,028,116 (GRCm39) T1095S unknown Het
D630045J12Rik C T 6: 38,125,478 (GRCm39) R1512H probably damaging Het
Dnah5 T A 15: 28,272,518 (GRCm39) V1078E probably benign Het
Donson A T 16: 91,479,439 (GRCm39) D366E probably damaging Het
Evpl T C 11: 116,114,201 (GRCm39) E1163G possibly damaging Het
Fcgbp A G 7: 27,789,237 (GRCm39) K601R probably benign Het
Fez1 A C 9: 36,780,171 (GRCm39) I323L probably damaging Het
Flacc1 T A 1: 58,715,698 (GRCm39) T173S probably benign Het
Frem1 A G 4: 82,884,371 (GRCm39) S1194P probably damaging Het
Gm10754 A T 10: 97,518,010 (GRCm39) probably benign Het
Gm14226 A T 2: 154,866,879 (GRCm39) T279S probably benign Het
Gm16332 G A 1: 139,793,730 (GRCm39) noncoding transcript Het
Gm21718 T A 14: 51,553,416 (GRCm39) noncoding transcript Het
Gm9871 A G 6: 101,773,734 (GRCm39) noncoding transcript Het
Grm1 A G 10: 10,658,377 (GRCm39) F371S probably damaging Het
Gtdc1 T C 2: 44,481,968 (GRCm39) I128V probably null Het
H2-Q3 T A 17: 35,578,708 (GRCm39) noncoding transcript Het
Ibtk T C 9: 85,592,465 (GRCm39) T998A probably benign Het
Ifi204 A G 1: 173,583,316 (GRCm39) S301P probably damaging Het
Kcnn1 C A 8: 71,297,073 (GRCm39) A545S probably benign Het
Keap1 T G 9: 21,148,849 (GRCm39) S53R probably benign Het
Lat A G 7: 125,967,110 (GRCm39) V138A probably benign Het
Lrpprc A T 17: 85,078,966 (GRCm39) N249K probably benign Het
Lrrc40 A G 3: 157,769,472 (GRCm39) I557V probably benign Het
Maml3 A G 3: 51,763,960 (GRCm39) F335L probably benign Het
Mcmbp A T 7: 128,314,420 (GRCm39) D265E probably damaging Het
Me3 A G 7: 89,282,222 (GRCm39) H35R probably benign Het
Mif4gd C A 11: 115,500,463 (GRCm39) V32L probably benign Het
Mlana T C 19: 29,677,551 (GRCm39) S18P probably damaging Het
Mpnd T A 17: 56,317,268 (GRCm39) probably benign Het
Ms4a4b T C 19: 11,432,101 (GRCm39) V74A probably benign Het
Mta2 T C 19: 8,923,655 (GRCm39) F133L possibly damaging Het
Myo5a A G 9: 75,030,330 (GRCm39) M150V probably damaging Het
Nbr1 T C 11: 101,465,903 (GRCm39) V487A probably benign Het
Nos3 G A 5: 24,582,853 (GRCm39) C660Y probably damaging Het
Ocln T C 13: 100,676,223 (GRCm39) D90G probably damaging Het
Or12d17 T C 17: 37,777,634 (GRCm39) V179A probably damaging Het
Or1e1c C T 11: 73,266,243 (GRCm39) R223* probably null Het
Or52n5 A G 7: 104,587,949 (GRCm39) D72G possibly damaging Het
Or5h18 A G 16: 58,847,808 (GRCm39) L154P probably damaging Het
Pcdh7 A G 5: 57,879,258 (GRCm39) K938E probably damaging Het
Pcgf3 T C 5: 108,635,827 (GRCm39) F166L probably benign Het
Pid1 A T 1: 84,015,981 (GRCm39) V128E possibly damaging Het
Polr3a A C 14: 24,532,532 (GRCm39) D187E probably benign Het
Prokr2 T C 2: 132,215,573 (GRCm39) D135G probably damaging Het
Rnf141 T C 7: 110,424,527 (GRCm39) T14A possibly damaging Het
Serinc1 T C 10: 57,399,141 (GRCm39) E254G probably damaging Het
Silc1 A T 12: 27,210,227 (GRCm39) noncoding transcript Het
Skint11 T C 4: 114,048,707 (GRCm39) F11L possibly damaging Het
Slc22a28 T C 19: 8,108,816 (GRCm39) T109A probably benign Het
Sntg1 C A 1: 8,853,022 (GRCm39) V43L probably damaging Het
Sp140l2 G A 1: 85,090,203 (GRCm39) A124V probably damaging Het
Strn T C 17: 78,969,208 (GRCm39) D398G probably damaging Het
Tacc2 A T 7: 130,227,629 (GRCm39) E1438V probably damaging Het
Tas2r139 A G 6: 42,118,500 (GRCm39) T211A possibly damaging Het
Tbkbp1 T C 11: 97,029,770 (GRCm39) probably benign Het
Thbs3 T C 3: 89,133,738 (GRCm39) Y897H probably damaging Het
Timm50 G T 7: 28,009,469 (GRCm39) probably benign Het
Tmem132a T C 19: 10,844,298 (GRCm39) Q100R possibly damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Unc93b1 C A 19: 3,985,871 (GRCm39) T90K probably benign Het
Upk3bl T C 5: 136,086,099 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,821,860 (GRCm39) H179Q probably benign Het
Vmn2r57 A T 7: 41,049,919 (GRCm39) F610Y probably damaging Het
Vmn2r80 T G 10: 79,030,532 (GRCm39) L786R probably damaging Het
Zc3h14 A G 12: 98,726,083 (GRCm39) T323A probably benign Het
Zfp532 T C 18: 65,758,137 (GRCm39) I690T possibly damaging Het
Zfp729b T C 13: 67,744,791 (GRCm39) N47S 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
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
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'- CGCAGGCCAATGCTCTATTC -3'
(R):5'- CCCATGCTCAAAAGGGAAATG -3'

Sequencing Primer
(F):5'- CCTCAAGTGCTCATCCTGGAAG -3'
(R):5'- GACTACTGCAAAGTTTTAACACAGG -3'
Posted On 2016-04-27