Incidental Mutation 'R7098:Frmd4a'
ID 550609
Institutional Source Beutler Lab
Gene Symbol Frmd4a
Ensembl Gene ENSMUSG00000026657
Gene Name FERM domain containing 4A
Synonyms 2700017I06Rik, C230040M21Rik, Gm13190
MMRRC Submission 045190-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R7098 (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 4577244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 367 (S367P)
Ref Sequence ENSEMBL: ENSMUSP00000089079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075767] [ENSMUST00000091497] [ENSMUST00000175669] [ENSMUST00000175944] [ENSMUST00000176828] [ENSMUST00000176864] [ENSMUST00000177457]
AlphaFold Q8BIE6
Predicted Effect probably damaging
Transcript: ENSMUST00000075767
AA Change: S356P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: S356P

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: S367P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: S367P

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 unknown
Transcript: ENSMUST00000175669
AA Change: S386P
SMART Domains Protein: ENSMUSP00000135306
Gene: ENSMUSG00000026657
AA Change: S386P

DomainStartEndE-ValueType
B41 31 236 3.24e-40 SMART
FERM_C 240 341 7.69e-27 SMART
low complexity region 371 387 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000175944
AA Change: S404P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135686
Gene: ENSMUSG00000026657
AA Change: S404P

DomainStartEndE-ValueType
B41 49 254 3.24e-40 SMART
FERM_C 258 359 7.69e-27 SMART
Pfam:DUF3338 388 525 6.5e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176828
AA Change: S62P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134803
Gene: ENSMUSG00000026657
AA Change: S62P

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 possibly damaging
Transcript: ENSMUST00000176864
AA Change: S51P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135057
Gene: ENSMUSG00000026657
AA Change: S51P

DomainStartEndE-ValueType
Pfam:DUF3338 35 150 2.6e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177457
AA Change: S371P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: S371P

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: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (78/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T A 5: 138,644,784 (GRCm39) M223K probably benign Het
Abce1 T C 8: 80,412,678 (GRCm39) T550A probably benign Het
Acoxl C T 2: 127,696,835 (GRCm39) Q28* probably null Het
Adam8 T C 7: 139,559,412 (GRCm39) K820R possibly damaging Het
Adamts3 G T 5: 90,009,354 (GRCm39) A103D probably damaging Het
Apba2 T A 7: 64,386,696 (GRCm39) V441D probably damaging Het
Arap2 A G 5: 62,833,293 (GRCm39) probably null Het
Arhgef10l T A 4: 140,308,222 (GRCm39) M44L probably benign Het
Asb4 T C 6: 5,398,499 (GRCm39) C155R probably damaging Het
Bpifb6 A T 2: 153,748,810 (GRCm39) K269* probably null Het
Cc2d2a A T 5: 43,840,481 (GRCm39) T161S probably benign Het
Ccdc15 T A 9: 37,255,256 (GRCm39) Q98L probably damaging Het
Col19a1 A G 1: 24,565,555 (GRCm39) S259P unknown Het
Col5a2 A T 1: 45,419,227 (GRCm39) D1284E possibly damaging Het
Cyp2c70 T C 19: 40,168,931 (GRCm39) T119A probably benign Het
Dennd6b C T 15: 89,072,890 (GRCm39) C188Y probably damaging Het
Dhx8 T A 11: 101,628,594 (GRCm39) probably null Het
Dhx9 T C 1: 153,340,768 (GRCm39) K624R probably benign Het
Dpys C T 15: 39,656,727 (GRCm39) V447M probably damaging Het
E130308A19Rik T C 4: 59,753,004 (GRCm39) S706P possibly damaging Het
Esrrb A G 12: 86,517,189 (GRCm39) D107G probably benign Het
Garin2 G A 12: 78,766,408 (GRCm39) probably null Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gm136 T C 4: 34,746,628 (GRCm39) I128V probably benign Het
Gm6525 T A 3: 84,082,309 (GRCm39) C77S possibly damaging Het
Grid2ip T C 5: 143,343,346 (GRCm39) F14S probably damaging Het
Hdhd3 C T 4: 62,418,152 (GRCm39) R8H probably damaging Het
Kdelr1 C A 7: 45,523,480 (GRCm39) A69D possibly damaging Het
Krtap16-3 T A 16: 88,759,560 (GRCm39) Y51F unknown Het
Lrrc40 T A 3: 157,747,276 (GRCm39) N129K probably benign Het
Man1b1 T A 2: 25,228,196 (GRCm39) D155E probably damaging Het
Mcm5 T C 8: 75,847,529 (GRCm39) V442A probably damaging Het
Mfsd14a C T 3: 116,435,361 (GRCm39) A235T probably benign Het
Mmp1a C A 9: 7,475,938 (GRCm39) T401K probably benign Het
Mpig6b C T 17: 35,283,320 (GRCm39) R196Q unknown Het
Mroh1 C T 15: 76,292,657 (GRCm39) Q262* probably null Het
Msh3 A T 13: 92,410,619 (GRCm39) D656E possibly damaging Het
Muc4 A T 16: 32,577,465 (GRCm39) T252S Het
Myh15 C T 16: 48,997,420 (GRCm39) A1746V possibly damaging Het
Myh8 C A 11: 67,169,879 (GRCm39) T66K probably benign Het
Nemf A T 12: 69,359,241 (GRCm39) Y999N probably damaging Het
Neurod1 T C 2: 79,285,029 (GRCm39) N118S probably damaging Het
Nlrp1b T A 11: 71,109,100 (GRCm39) I134L possibly damaging Het
Nsun7 A T 5: 66,418,326 (GRCm39) I19F probably damaging Het
Ofcc1 A G 13: 40,157,442 (GRCm39) probably null Het
P2rx7 A G 5: 122,811,856 (GRCm39) E389G probably damaging Het
Pam C T 1: 97,826,072 (GRCm39) R194H probably benign Het
Pcnt A G 10: 76,220,673 (GRCm39) S2052P probably benign Het
Pfkfb4 T A 9: 108,828,222 (GRCm39) Y86N probably benign Het
Plcd3 T A 11: 102,968,689 (GRCm39) D334V probably damaging Het
Ppard T C 17: 28,517,787 (GRCm39) V285A possibly damaging Het
Prune2 A G 19: 17,097,966 (GRCm39) S1157G probably benign Het
Psg21 A T 7: 18,386,470 (GRCm39) L172H probably damaging Het
Psme4 C A 11: 30,800,661 (GRCm39) T1417K probably damaging Het
Ptprc T C 1: 138,027,423 (GRCm39) D336G probably benign Het
Ralgapa1 A T 12: 55,837,095 (GRCm39) probably null Het
Rap1gap C A 4: 137,443,393 (GRCm39) probably null Het
Scap T C 9: 110,201,310 (GRCm39) S100P possibly damaging Het
Scpep1 T C 11: 88,820,011 (GRCm39) I426V possibly damaging Het
Sdk1 T C 5: 142,082,625 (GRCm39) I1341T probably damaging Het
Sfmbt2 T A 2: 10,584,000 (GRCm39) Y786N probably benign Het
Sh3tc1 A T 5: 35,859,358 (GRCm39) probably null Het
Slc5a5 T A 8: 71,341,182 (GRCm39) I386F probably damaging Het
Smarca4 T G 9: 21,546,116 (GRCm39) M98R probably benign Het
St18 G A 1: 6,898,066 (GRCm39) D623N probably damaging Het
Sult2a1 A T 7: 13,549,978 (GRCm39) probably null Het
Tgfb2 C T 1: 186,362,834 (GRCm39) R330H probably damaging Het
Thoc3 A G 13: 54,614,119 (GRCm39) I168T probably damaging Het
Tmem126a C T 7: 90,100,062 (GRCm39) M160I possibly damaging Het
Tmem200b C T 4: 131,649,704 (GRCm39) P208L probably benign Het
Tnrc6c T C 11: 117,604,952 (GRCm39) V29A probably benign Het
Tsc1 C T 2: 28,565,744 (GRCm39) S465F probably benign Het
Ttll5 A G 12: 85,964,447 (GRCm39) probably null Het
Unc13d G T 11: 115,954,552 (GRCm39) L1019I probably damaging Het
Vmn2r102 A T 17: 19,914,670 (GRCm39) H745L probably damaging Het
Wars2 T G 3: 99,123,957 (GRCm39) S273A probably damaging Het
Xrcc6 C A 15: 81,919,955 (GRCm39) S498* probably null Het
Ybx1 A T 4: 119,140,050 (GRCm39) N92K 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)
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 PCR Primer
(F):5'- CCTGGATTCGGGCTTACAAG -3'
(R):5'- TGTGCCTCACTGAAGTTACACAC -3'

Sequencing Primer
(F):5'- ATTCGGGCTTACAAGTAGGC -3'
(R):5'- GAAGTTACACACATCTCCCTCTG -3'
Posted On 2019-05-15