Incidental Mutation 'R8024:Frmd4a'
ID 617556
Institutional Source Beutler Lab
Gene Symbol Frmd4a
Ensembl Gene ENSMUSG00000026657
Gene Name FERM domain containing 4A
Synonyms 2700017I06Rik, C230040M21Rik, Gm13190
MMRRC Submission 067463-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R8024 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 4022528-4618854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4608513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 794 (S794P)
Ref Sequence ENSEMBL: ENSMUSP00000089079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075767] [ENSMUST00000091497] [ENSMUST00000176828] [ENSMUST00000177457]
AlphaFold Q8BIE6
Predicted Effect probably damaging
Transcript: ENSMUST00000075767
AA Change: S783P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: S783P

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 damaging
Transcript: ENSMUST00000091497
AA Change: S794P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: S794P

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 damaging
Transcript: ENSMUST00000176828
AA Change: S489P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134803
Gene: ENSMUSG00000026657
AA Change: S489P

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 damaging
Transcript: ENSMUST00000177457
AA Change: S798P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: S798P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (74/74)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,760,713 (GRCm39) N1257Y probably benign Het
2310057J18Rik A T 10: 28,858,591 (GRCm39) Y133* probably null Het
2310057J18Rik A C 10: 28,862,213 (GRCm39) S26A possibly damaging Het
9930012K11Rik G T 14: 70,394,116 (GRCm39) P220T probably damaging Het
Adam1b A C 5: 121,638,986 (GRCm39) S686R probably benign Het
Adam8 T C 7: 139,567,489 (GRCm39) D418G probably damaging Het
Adcy8 A G 15: 64,792,095 (GRCm39) L287P probably damaging Het
Adhfe1 T A 1: 9,634,080 (GRCm39) M373K probably benign Het
Alpk2 T C 18: 65,438,106 (GRCm39) S1096G probably benign Het
Ankmy1 A G 1: 92,812,716 (GRCm39) V531A probably benign Het
Ano3 C T 2: 110,498,128 (GRCm39) E738K probably damaging Het
Ano4 T A 10: 88,807,194 (GRCm39) I796F probably damaging Het
Apeh T C 9: 107,969,790 (GRCm39) E190G probably benign Het
Atpsckmt T C 15: 31,608,317 (GRCm39) Y123H probably damaging Het
Cadm3 A G 1: 173,165,622 (GRCm39) L346P probably damaging Het
Ccdc9b A G 2: 118,591,005 (GRCm39) probably null Het
Clec2e G A 6: 129,071,388 (GRCm39) H150Y possibly damaging Het
Cnga4 A T 7: 105,056,042 (GRCm39) N318Y probably damaging Het
Cnr2 T A 4: 135,644,196 (GRCm39) F91L probably damaging Het
Diaph3 T A 14: 86,893,835 (GRCm39) E1147V probably damaging Het
Elmo2 T C 2: 165,133,775 (GRCm39) T738A unknown Het
Exoc4 T A 6: 33,324,866 (GRCm39) W387R probably damaging Het
Focad T C 4: 88,315,237 (GRCm39) V1379A unknown Het
Ftl1-ps1 A G 13: 74,555,170 (GRCm39) T150A probably benign Het
Gm43517 A T 12: 49,436,409 (GRCm39) probably benign Het
Gm5773 C T 3: 93,680,475 (GRCm39) A49V probably benign Het
Helz T A 11: 107,577,247 (GRCm39) L1867Q unknown Het
Il22ra1 A G 4: 135,461,589 (GRCm39) H118R probably benign Het
Inf2 C T 12: 112,575,336 (GRCm39) P856S unknown Het
Ints5 T A 19: 8,873,504 (GRCm39) L488I probably damaging Het
Iqca1l A G 5: 24,755,634 (GRCm39) M296T possibly damaging Het
Kifc1 G A 17: 34,102,177 (GRCm39) R479C probably damaging Het
Lrba T A 3: 86,202,708 (GRCm39) C289* probably null Het
Mael A G 1: 166,054,196 (GRCm39) L196S probably damaging Het
Med23 T A 10: 24,755,581 (GRCm39) S229R possibly damaging Het
Mroh9 T C 1: 162,866,802 (GRCm39) N645D probably benign Het
Myom3 G A 4: 135,529,059 (GRCm39) V1132I probably benign Het
Naalad2 T G 9: 18,308,769 (GRCm39) probably benign Het
Ndufa13 A T 8: 70,347,187 (GRCm39) L71H probably damaging Het
Nepro A T 16: 44,551,778 (GRCm39) H212L probably benign Het
Nmd3 T A 3: 69,637,298 (GRCm39) probably benign Het
Nox4 T A 7: 86,954,118 (GRCm39) L141Q probably damaging Het
Or4a81 T C 2: 89,619,390 (GRCm39) E102G probably benign Het
Or5p53 T C 7: 107,533,645 (GRCm39) V306A probably benign Het
Or5p58 T A 7: 107,694,496 (GRCm39) T94S probably benign Het
Or6c215 T G 10: 129,637,812 (GRCm39) E194A probably damaging Het
Or8s2 T A 15: 98,276,878 (GRCm39) M38L probably benign Het
Pfpl A G 19: 12,407,570 (GRCm39) D607G possibly damaging Het
Pkd1l2 A T 8: 117,802,921 (GRCm39) F233L possibly damaging Het
Prl6a1 A G 13: 27,502,678 (GRCm39) probably benign Het
Ptprz1 A T 6: 23,042,750 (GRCm39) E2058V probably damaging Het
Rag1 A T 2: 101,472,852 (GRCm39) N763K probably damaging Het
Rhbg A C 3: 88,155,760 (GRCm39) D63E probably damaging Het
Rrm1 T A 7: 102,106,472 (GRCm39) F330L probably benign Het
Scaf8 A T 17: 3,209,568 (GRCm39) Q97L unknown Het
Sdr9c7 G A 10: 127,734,751 (GRCm39) V80I probably benign Het
Slc18a1 A G 8: 69,527,799 (GRCm39) V4A probably benign Het
Slco3a1 T A 7: 74,204,218 (GRCm39) I41F probably benign Het
Slirp T C 12: 87,494,370 (GRCm39) V45A probably damaging Het
Spata31 A T 13: 65,070,618 (GRCm39) Q922L probably benign Het
Spg11 A G 2: 121,927,802 (GRCm39) S661P possibly damaging Het
Stab2 G T 10: 86,681,916 (GRCm39) T2495K probably benign Het
Supt16 A G 14: 52,408,332 (GRCm39) I871T probably damaging Het
Sval2 A G 6: 41,837,298 (GRCm39) Q9R probably damaging Het
Syngap1 A T 17: 27,160,426 (GRCm39) M1L probably benign Het
Tfpi A T 2: 84,284,266 (GRCm39) M62K possibly damaging Het
Tm4sf1 A T 3: 57,195,186 (GRCm39) Y200* probably null Het
Tmc1 A T 19: 20,878,181 (GRCm39) W105R probably damaging Het
Tmtc2 T C 10: 105,025,987 (GRCm39) E827G probably benign Het
Tollip T C 7: 141,446,563 (GRCm39) I33V probably benign Het
Unc80 T A 1: 66,645,803 (GRCm39) V1493D possibly damaging Het
Vmn2r6 G A 3: 64,467,245 (GRCm39) R85W probably benign Het
Vwa5a C A 9: 38,647,316 (GRCm39) S565* probably null Het
Xbp1 T A 11: 5,471,910 (GRCm39) V12D 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
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
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 PCR Primer
(F):5'- GAGGACTCGTAGCAGCAATG -3'
(R):5'- AGTTGGAGGTCTTAAACTGCG -3'

Sequencing Primer
(F):5'- AATGGCTCAGACCCCATGG -3'
(R):5'- AAACTGCGCTTTGACGCTG -3'
Posted On 2020-01-23