Incidental Mutation 'R9307:Frmd4a'
ID 705249
Institutional Source Beutler Lab
Gene Symbol Frmd4a
Ensembl Gene ENSMUSG00000026657
Gene Name FERM domain containing 4A
Synonyms 2700017I06Rik, C230040M21Rik, Gm13190
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R9307 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 4022528-4618854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4609044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 971 (M971V)
Ref Sequence ENSEMBL: ENSMUSP00000089079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075767] [ENSMUST00000091497] [ENSMUST00000176828] [ENSMUST00000177457]
AlphaFold Q8BIE6
Predicted Effect probably benign
Transcript: ENSMUST00000075767
AA Change: M960V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: M960V

DomainStartEndE-ValueType
B41 1 206 3.24e-40 SMART
FERM_C 210 311 7.69e-27 SMART
Pfam:DUF3338 340 477 1.9e-63 PFAM
low complexity region 558 571 N/A INTRINSIC
low complexity region 610 623 N/A INTRINSIC
low complexity region 732 741 N/A INTRINSIC
low complexity region 764 785 N/A INTRINSIC
low complexity region 790 801 N/A INTRINSIC
low complexity region 924 947 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091497
AA Change: M971V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: M971V

DomainStartEndE-ValueType
B41 12 217 3.24e-40 SMART
FERM_C 221 322 7.69e-27 SMART
Pfam:DUF3338 352 487 6.3e-61 PFAM
low complexity region 569 582 N/A INTRINSIC
low complexity region 621 634 N/A INTRINSIC
low complexity region 743 752 N/A INTRINSIC
low complexity region 775 796 N/A INTRINSIC
low complexity region 801 812 N/A INTRINSIC
low complexity region 935 958 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176828
AA Change: M666V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134803
Gene: ENSMUSG00000026657
AA Change: M666V

DomainStartEndE-ValueType
Pfam:DUF3338 46 183 4.1e-64 PFAM
low complexity region 264 277 N/A INTRINSIC
low complexity region 316 329 N/A INTRINSIC
low complexity region 438 447 N/A INTRINSIC
low complexity region 470 491 N/A INTRINSIC
low complexity region 496 507 N/A INTRINSIC
low complexity region 630 653 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177457
AA Change: M975V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: M975V

DomainStartEndE-ValueType
B41 16 221 3.24e-40 SMART
FERM_C 225 326 7.69e-27 SMART
Pfam:DUF3338 355 492 3.9e-63 PFAM
low complexity region 573 586 N/A INTRINSIC
low complexity region 625 638 N/A INTRINSIC
low complexity region 747 756 N/A INTRINSIC
low complexity region 779 800 N/A INTRINSIC
low complexity region 805 816 N/A INTRINSIC
low complexity region 939 962 N/A INTRINSIC
Meta Mutation Damage Score 0.0574 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 100% (64/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A C 3: 137,771,183 (GRCm39) D124A probably benign Het
Acd T C 8: 106,425,514 (GRCm39) D273G probably damaging Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adam15 T C 3: 89,254,790 (GRCm39) D90G possibly damaging Het
Adam2 A T 14: 66,287,921 (GRCm39) C392S probably damaging Het
Adam23 T A 1: 63,576,131 (GRCm39) N304K probably damaging Het
Adam34l A C 8: 44,079,304 (GRCm39) F307V probably benign Het
Aldh3b3 T C 19: 4,013,882 (GRCm39) F28L probably damaging Het
Bsn A G 9: 107,992,993 (GRCm39) S920P probably benign Het
Btc A G 5: 91,550,515 (GRCm39) probably null Het
Chchd2 A T 5: 129,916,054 (GRCm39) V12E probably benign Het
Chia1 A G 3: 106,035,991 (GRCm39) probably benign Het
Chil4 A T 3: 106,111,382 (GRCm39) probably null Het
Clock A G 5: 76,364,671 (GRCm39) F815L unknown Het
Cmtr2 C T 8: 110,949,712 (GRCm39) T674M probably benign Het
Cnbd1 A C 4: 18,887,647 (GRCm39) I289R probably damaging Het
Cog2 A T 8: 125,253,837 (GRCm39) probably null Het
Col13a1 T C 10: 61,703,248 (GRCm39) I454V unknown Het
Cyct T A 2: 76,184,457 (GRCm39) Y98F probably benign Het
Dcaf6 T C 1: 165,227,236 (GRCm39) E297G possibly damaging Het
Dgka T C 10: 128,567,046 (GRCm39) H271R probably damaging Het
Dnah9 T A 11: 65,976,300 (GRCm39) I1250F probably benign Het
Dock4 T C 12: 40,686,155 (GRCm39) L130P probably damaging Het
Dpyd G A 3: 119,108,560 (GRCm39) V868I probably benign Het
Dync1li1 T A 9: 114,535,076 (GRCm39) D113E probably damaging Het
Fat3 T C 9: 15,932,719 (GRCm39) K1405E probably damaging Het
Fbn2 A G 18: 58,342,856 (GRCm39) C8R probably benign Het
Glyatl3 C T 17: 41,223,553 (GRCm39) probably null Het
Grip1 A T 10: 119,821,454 (GRCm39) H373L probably benign Het
Ins1 T C 19: 52,253,258 (GRCm39) L66P possibly damaging Het
Kif21b A T 1: 136,101,800 (GRCm39) I1616L probably benign Het
Map7d1 A G 4: 126,128,024 (GRCm39) M637T unknown Het
Mc2r A T 18: 68,540,636 (GRCm39) M219K probably benign Het
Mcpt1 A G 14: 56,256,867 (GRCm39) D135G possibly damaging Het
Mturn T C 6: 54,676,541 (GRCm39) probably null Het
Mutyh T A 4: 116,674,074 (GRCm39) probably null Het
Myh3 A G 11: 66,984,397 (GRCm39) D1078G possibly damaging Het
Or4d5 T C 9: 40,012,451 (GRCm39) I112V probably benign Het
Pcdha12 A G 18: 37,153,874 (GRCm39) K198E probably damaging Het
Pcf11 A T 7: 92,306,534 (GRCm39) N1211K possibly damaging Het
Piezo1 G A 8: 123,213,832 (GRCm39) P1711S Het
Pkd1 T A 17: 24,769,451 (GRCm39) L72Q possibly damaging Het
Pramel20 C A 4: 143,299,314 (GRCm39) L326I probably damaging Het
Prss12 A G 3: 123,299,049 (GRCm39) D607G probably benign Het
R3hdml T C 2: 163,344,372 (GRCm39) *254R probably null Het
Rasal3 TTGGACCTGAGTGGA TTGGA 17: 32,612,502 (GRCm39) 782 probably null Het
Relch A T 1: 105,615,077 (GRCm39) Y272F probably benign Het
Rev3l C T 10: 39,693,149 (GRCm39) P410S probably benign Het
Sec14l2 A G 11: 4,068,665 (GRCm39) V5A probably benign Het
Slc12a3 A C 8: 95,061,625 (GRCm39) I291L probably benign Het
Slc4a10 T C 2: 62,083,662 (GRCm39) F372L probably damaging Het
Spta1 T C 1: 174,035,978 (GRCm39) W1095R probably damaging Het
Synj1 T C 16: 90,785,095 (GRCm39) T254A probably damaging Het
Taar2 T C 10: 23,817,237 (GRCm39) F259S probably damaging Het
Tns2 C A 15: 102,018,996 (GRCm39) L396I probably damaging Het
Tom1l1 TTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTG 11: 90,540,648 (GRCm39) probably benign Het
Traf5 T C 1: 191,747,033 (GRCm39) D96G probably damaging Het
Trgv3 A G 13: 19,427,441 (GRCm39) E108G probably damaging Het
Trpv6 A G 6: 41,602,378 (GRCm39) V336A probably benign Het
Usp45 A T 4: 21,824,998 (GRCm39) L583F probably damaging Het
Utrn T C 10: 12,554,475 (GRCm39) D1538G probably benign Het
Vmn1r209 T A 13: 22,990,072 (GRCm39) H206L probably damaging Het
Zfp51 T A 17: 21,684,733 (GRCm39) H449Q probably benign Het
Zfp653 G A 9: 21,969,321 (GRCm39) S315F possibly damaging 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
R7065:Frmd4a UTSW 2 4,570,923 (GRCm39)
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
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 PCR Primer
(F):5'- ATCTCGGTCTCAGATCCTGC -3'
(R):5'- GAAATGCTCACTCTACGCGAAGG -3'

Sequencing Primer
(F):5'- GTCTCAGATCCTGCGGACTC -3'
(R):5'- CTCACTCTACGCGAAGGAAGAG -3'
Posted On 2022-03-25