Incidental Mutation 'R7065:Frmd4a'
ID 548491
Institutional Source Beutler Lab
Gene Symbol Frmd4a
Ensembl Gene ENSMUSG00000026657
Gene Name FERM domain containing 4A
Synonyms 2700017I06Rik, C230040M21Rik, Gm13190
MMRRC Submission 045161-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R7065 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 4022528-4618854 bp(+) (GRCm39)
Type of Mutation
DNA Base Change (assembly) G to A at 4570923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s):
AlphaFold Q8BIE6
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G T 4: 53,074,233 (GRCm39) S1150Y probably damaging Het
Abca13 T A 11: 9,242,595 (GRCm39) V1486E probably benign Het
Abca17 T A 17: 24,546,725 (GRCm39) Y292F probably damaging Het
Adam3 A G 8: 25,201,691 (GRCm39) probably null Het
Ankmy2 G A 12: 36,237,707 (GRCm39) E269K probably damaging Het
Cdan1 A G 2: 120,549,402 (GRCm39) S1201P probably benign Het
Cep57 T C 9: 13,729,677 (GRCm39) Y122C probably damaging Het
Cfh T A 1: 140,014,140 (GRCm39) Y1210F probably damaging Het
Cflar T G 1: 58,770,368 (GRCm39) L154V probably damaging Het
Chmp4b A G 2: 154,533,162 (GRCm39) D134G probably damaging Het
Clec14a A G 12: 58,315,580 (GRCm39) F14S possibly damaging Het
Ctnna1 A T 18: 35,285,669 (GRCm39) H5L probably benign Het
Cyp2e1 T A 7: 140,343,906 (GRCm39) L48Q probably damaging Het
Dnah6 T G 6: 73,064,545 (GRCm39) Q2627P possibly damaging Het
Ehmt1 T C 2: 24,730,709 (GRCm39) D569G probably damaging Het
Fryl T C 5: 73,248,099 (GRCm39) D1006G probably damaging Het
Gclm A G 3: 122,056,320 (GRCm39) N137D probably benign Het
Gk5 A G 9: 96,061,109 (GRCm39) Y531C probably damaging Het
Gpm6a C A 8: 55,490,493 (GRCm39) N56K probably benign Het
Grik4 A C 9: 42,455,127 (GRCm39) V656G probably damaging Het
Grip2 C A 6: 91,760,550 (GRCm39) probably null Het
Gucy2c T C 6: 136,697,764 (GRCm39) K636E probably damaging Het
Ifi44l A G 3: 151,465,429 (GRCm39) I107T Het
Kif1b T C 4: 149,286,982 (GRCm39) T1237A possibly damaging Het
Klk1b11 A G 7: 43,648,386 (GRCm39) D131G probably benign Het
Lipe A G 7: 25,084,603 (GRCm39) probably null Het
Lrp4 A G 2: 91,341,925 (GRCm39) D1846G probably damaging Het
Madd A T 2: 90,985,402 (GRCm39) M1273K probably benign Het
Matn3 T A 12: 9,002,472 (GRCm39) M228K probably damaging Het
Mterf4 T A 1: 93,232,617 (GRCm39) H78L probably benign Het
Ncoa4 T A 14: 31,894,857 (GRCm39) L128* probably null Het
Nedd4l A G 18: 65,329,040 (GRCm39) N627S probably benign Het
Niban1 A G 1: 151,575,858 (GRCm39) probably null Het
Nphp3 A G 9: 103,919,189 (GRCm39) Y1279C probably damaging Het
Nrp1 C A 8: 129,187,193 (GRCm39) T413N probably benign Het
Opn4 C A 14: 34,317,834 (GRCm39) A267S probably benign Het
Or4c11c A T 2: 88,661,730 (GRCm39) I90F probably damaging Het
Or5ak24 A G 2: 85,260,523 (GRCm39) Y217H probably damaging Het
Or5al6 A C 2: 85,976,345 (GRCm39) H244Q probably damaging Het
Or5p78 G A 7: 108,212,266 (GRCm39) V251I probably damaging Het
Pax3 T C 1: 78,170,648 (GRCm39) probably null Het
Pcdha12 A G 18: 37,154,679 (GRCm39) E466G probably damaging Het
Pdzk1 A G 3: 96,775,748 (GRCm39) E372G probably benign Het
Pigs T A 11: 78,227,565 (GRCm39) V243D possibly damaging Het
Pla2g5 C A 4: 138,527,915 (GRCm39) C117F probably damaging Het
Ppt2 A G 17: 34,841,829 (GRCm39) S236P probably damaging Het
Raver1 T C 9: 21,001,590 (GRCm39) D81G probably benign Het
Rpgrip1 T C 14: 52,378,650 (GRCm39) L525P possibly damaging Het
Ryr1 T C 7: 28,803,068 (GRCm39) E662G probably damaging Het
Scaf8 G A 17: 3,209,486 (GRCm39) V66M probably damaging Het
Scn3a A C 2: 65,295,199 (GRCm39) L1508R probably benign Het
Semp2l2b T C 10: 21,943,197 (GRCm39) D261G probably benign Het
Slfn8 T C 11: 82,907,794 (GRCm39) R250G probably benign Het
Speer4d A C 5: 15,825,421 (GRCm39) T49P probably damaging Het
Spice1 T A 16: 44,175,898 (GRCm39) D32E probably damaging Het
Stt3b A G 9: 115,095,224 (GRCm39) L269P probably damaging Het
Ttn A G 2: 76,628,456 (GRCm39) I14568T possibly damaging Het
U2surp T C 9: 95,367,712 (GRCm39) T413A probably benign Het
Ubr3 A G 2: 69,784,049 (GRCm39) E755G probably damaging Het
Unc5a A T 13: 55,138,896 (GRCm39) S92C probably damaging Het
Zfat T C 15: 68,052,969 (GRCm39) Y275C probably damaging Het
Zfp874a A T 13: 67,590,401 (GRCm39) S428T probably damaging Het
Zfy1 A G Y: 725,428 (GRCm39) V779A probably benign Het
Other mutations in Frmd4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Frmd4a APN 2 4,599,525 (GRCm39) missense probably benign 0.00
IGL00508:Frmd4a APN 2 4,599,545 (GRCm39) nonsense probably null
IGL01331:Frmd4a APN 2 4,607,036 (GRCm39) missense probably benign 0.32
IGL01774:Frmd4a APN 2 4,540,047 (GRCm39) splice site probably benign
IGL01909:Frmd4a APN 2 4,608,844 (GRCm39) missense probably benign 0.11
IGL02170:Frmd4a APN 2 4,570,988 (GRCm39) missense probably damaging 0.99
IGL02269:Frmd4a APN 2 4,609,045 (GRCm39) missense probably benign 0.19
IGL02377:Frmd4a APN 2 4,539,385 (GRCm39) missense possibly damaging 0.47
IGL03308:Frmd4a APN 2 4,502,837 (GRCm39) missense possibly damaging 0.95
R0066:Frmd4a UTSW 2 4,477,963 (GRCm39) missense probably damaging 1.00
R0066:Frmd4a UTSW 2 4,477,963 (GRCm39) missense probably damaging 1.00
R0081:Frmd4a UTSW 2 4,577,252 (GRCm39) critical splice donor site probably null
R0128:Frmd4a UTSW 2 4,608,903 (GRCm39) missense probably damaging 0.98
R0130:Frmd4a UTSW 2 4,608,903 (GRCm39) missense probably damaging 0.98
R0376:Frmd4a UTSW 2 4,577,198 (GRCm39) missense probably damaging 0.97
R0529:Frmd4a UTSW 2 4,610,834 (GRCm39) missense probably damaging 1.00
R0549:Frmd4a UTSW 2 4,608,778 (GRCm39) missense possibly damaging 0.76
R1593:Frmd4a UTSW 2 4,477,999 (GRCm39) missense probably damaging 1.00
R1959:Frmd4a UTSW 2 4,539,997 (GRCm39) missense probably damaging 1.00
R2002:Frmd4a UTSW 2 4,577,176 (GRCm39) missense probably damaging 1.00
R2100:Frmd4a UTSW 2 4,610,834 (GRCm39) missense probably damaging 1.00
R2310:Frmd4a UTSW 2 4,577,210 (GRCm39) frame shift probably null
R2340:Frmd4a UTSW 2 4,591,187 (GRCm39) missense probably damaging 1.00
R2426:Frmd4a UTSW 2 4,534,673 (GRCm39) missense probably damaging 1.00
R2680:Frmd4a UTSW 2 4,539,364 (GRCm39) missense probably damaging 1.00
R3409:Frmd4a UTSW 2 4,157,839 (GRCm39) intron probably benign
R3772:Frmd4a UTSW 2 4,595,433 (GRCm39) missense probably damaging 0.99
R3773:Frmd4a UTSW 2 4,595,433 (GRCm39) missense probably damaging 0.99
R3932:Frmd4a UTSW 2 4,542,071 (GRCm39) missense probably damaging 1.00
R4094:Frmd4a UTSW 2 4,615,843 (GRCm39) missense probably damaging 1.00
R4226:Frmd4a UTSW 2 4,337,889 (GRCm39) missense probably benign 0.00
R4299:Frmd4a UTSW 2 4,337,882 (GRCm39) missense probably benign 0.02
R4304:Frmd4a UTSW 2 4,337,889 (GRCm39) missense probably benign 0.00
R4306:Frmd4a UTSW 2 4,337,889 (GRCm39) missense probably benign 0.00
R4307:Frmd4a UTSW 2 4,337,889 (GRCm39) missense probably benign 0.00
R4346:Frmd4a UTSW 2 4,612,844 (GRCm39) missense possibly damaging 0.92
R4360:Frmd4a UTSW 2 4,606,052 (GRCm39) missense probably damaging 1.00
R4384:Frmd4a UTSW 2 4,599,374 (GRCm39) nonsense probably null
R4547:Frmd4a UTSW 2 4,477,956 (GRCm39) missense probably damaging 1.00
R4575:Frmd4a UTSW 2 4,608,490 (GRCm39) missense possibly damaging 0.83
R4577:Frmd4a UTSW 2 4,608,490 (GRCm39) missense possibly damaging 0.83
R4578:Frmd4a UTSW 2 4,608,490 (GRCm39) missense possibly damaging 0.83
R4688:Frmd4a UTSW 2 4,542,122 (GRCm39) missense possibly damaging 0.81
R4764:Frmd4a UTSW 2 4,608,259 (GRCm39) missense probably damaging 1.00
R4826:Frmd4a UTSW 2 4,606,108 (GRCm39) missense probably damaging 1.00
R4879:Frmd4a UTSW 2 4,534,628 (GRCm39) missense probably damaging 1.00
R5053:Frmd4a UTSW 2 4,608,732 (GRCm39) missense probably damaging 1.00
R5392:Frmd4a UTSW 2 4,599,384 (GRCm39) missense probably damaging 1.00
R5733:Frmd4a UTSW 2 4,305,768 (GRCm39) missense possibly damaging 0.53
R5762:Frmd4a UTSW 2 4,488,876 (GRCm39) missense probably damaging 1.00
R5920:Frmd4a UTSW 2 4,337,927 (GRCm39) missense probably benign 0.02
R5932:Frmd4a UTSW 2 4,534,650 (GRCm39) missense probably damaging 1.00
R6117:Frmd4a UTSW 2 4,607,060 (GRCm39) missense possibly damaging 0.66
R6328:Frmd4a UTSW 2 4,595,509 (GRCm39) missense probably damaging 0.99
R6622:Frmd4a UTSW 2 4,610,873 (GRCm39) missense probably benign 0.00
R6903:Frmd4a UTSW 2 4,591,267 (GRCm39) missense probably damaging 1.00
R7098:Frmd4a UTSW 2 4,577,244 (GRCm39) missense probably damaging 1.00
R7258:Frmd4a UTSW 2 4,305,764 (GRCm39) missense probably benign
R7336:Frmd4a UTSW 2 4,478,025 (GRCm39) missense possibly damaging 0.92
R7582:Frmd4a UTSW 2 4,599,408 (GRCm39) frame shift probably null
R7607:Frmd4a UTSW 2 4,596,747 (GRCm39) nonsense probably null
R7697:Frmd4a UTSW 2 4,488,892 (GRCm39) missense probably damaging 1.00
R7750:Frmd4a UTSW 2 4,606,160 (GRCm39) missense probably benign 0.14
R7795:Frmd4a UTSW 2 4,595,506 (GRCm39) missense probably damaging 1.00
R7848:Frmd4a UTSW 2 4,596,728 (GRCm39) intron probably benign
R7899:Frmd4a UTSW 2 4,608,900 (GRCm39) missense probably damaging 1.00
R8024:Frmd4a UTSW 2 4,608,513 (GRCm39) missense probably damaging 1.00
R8399:Frmd4a UTSW 2 4,577,244 (GRCm39) missense probably damaging 1.00
R8778:Frmd4a UTSW 2 4,478,026 (GRCm39) missense probably damaging 1.00
R8876:Frmd4a UTSW 2 4,606,111 (GRCm39) missense probably damaging 0.99
R9074:Frmd4a UTSW 2 4,608,765 (GRCm39) missense probably damaging 1.00
R9075:Frmd4a UTSW 2 4,608,765 (GRCm39) missense probably damaging 1.00
R9076:Frmd4a UTSW 2 4,608,765 (GRCm39) missense probably damaging 1.00
R9105:Frmd4a UTSW 2 4,539,994 (GRCm39) missense probably damaging 0.96
R9213:Frmd4a UTSW 2 4,608,372 (GRCm39) missense probably damaging 1.00
R9227:Frmd4a UTSW 2 4,612,844 (GRCm39) missense possibly damaging 0.92
R9230:Frmd4a UTSW 2 4,612,844 (GRCm39) missense possibly damaging 0.92
R9235:Frmd4a UTSW 2 4,599,366 (GRCm39) missense probably damaging 0.99
R9266:Frmd4a UTSW 2 4,610,846 (GRCm39) missense probably damaging 0.99
R9301:Frmd4a UTSW 2 4,157,904 (GRCm39) missense probably benign 0.27
R9307:Frmd4a UTSW 2 4,609,044 (GRCm39) missense probably benign
R9365:Frmd4a UTSW 2 4,606,973 (GRCm39) missense probably benign 0.01
R9476:Frmd4a UTSW 2 4,608,324 (GRCm39) missense probably benign 0.32
R9484:Frmd4a UTSW 2 4,609,026 (GRCm39) missense possibly damaging 0.49
R9510:Frmd4a UTSW 2 4,608,324 (GRCm39) missense probably benign 0.32
R9513:Frmd4a UTSW 2 4,608,711 (GRCm39) missense probably damaging 0.99
Z1176:Frmd4a UTSW 2 4,502,832 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2019-05-13