Incidental Mutation 'R9074:Frmd4a'
ID 689649
Institutional Source Beutler Lab
Gene Symbol Frmd4a
Ensembl Gene ENSMUSG00000026657
Gene Name FERM domain containing 4A
Synonyms 2700017I06Rik, C230040M21Rik, Gm13190
MMRRC Submission 068895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R9074 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 4022528-4618854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4608765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 878 (G878W)
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: G867W

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: G867W

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: G878W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: G878W

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: G573W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134803
Gene: ENSMUSG00000026657
AA Change: G573W

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: G882W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: G882W

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 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (63/64)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,972,257 (GRCm39) silent Het
Ackr2 T A 9: 121,737,729 (GRCm39) C35S probably damaging Het
Adcy8 T A 15: 64,573,940 (GRCm39) K1054N probably damaging Het
Adgrf1 A T 17: 43,601,879 (GRCm39) probably benign Het
Akap9 T A 5: 4,127,959 (GRCm39) I3765K probably benign Het
Brwd1 A T 16: 95,824,610 (GRCm39) F1219I Het
Btc A T 5: 91,508,603 (GRCm39) probably null Het
Cd163 C T 6: 124,285,947 (GRCm39) R166* probably null Het
Cfap52 G A 11: 67,822,656 (GRCm39) S405L probably benign Het
Clcn2 A G 16: 20,531,414 (GRCm39) L210P possibly damaging Het
Creb3l3 T A 10: 80,924,452 (GRCm39) probably null Het
Csn1s2a A T 5: 87,934,458 (GRCm39) I144F probably benign Het
Dedd G T 1: 171,167,888 (GRCm39) probably benign Het
Eef2k C T 7: 120,491,124 (GRCm39) R537C probably damaging Het
Epas1 A T 17: 87,135,267 (GRCm39) R633S probably benign Het
Fmn2 C A 1: 174,436,198 (GRCm39) T723N unknown Het
Ggcx T G 6: 72,402,924 (GRCm39) F294C probably damaging Het
Ghr G A 15: 3,370,470 (GRCm39) P132S possibly damaging Het
Gm15446 A T 5: 110,091,299 (GRCm39) H517L probably damaging Het
Gm5862 T C 5: 26,226,624 (GRCm39) T93A probably damaging Het
Gnb1l T A 16: 18,359,745 (GRCm39) I50N probably damaging Het
Greb1l A G 18: 10,532,797 (GRCm39) Y897C probably damaging Het
Greb1l T C 18: 10,558,795 (GRCm39) C1817R probably damaging Het
Ier5 C A 1: 154,974,275 (GRCm39) W301L probably damaging Het
Irf2bp2 A G 8: 127,318,456 (GRCm39) L370P probably benign Het
Itga9 T A 9: 118,636,344 (GRCm39) N677K probably damaging Het
Itgb7 G T 15: 102,132,797 (GRCm39) R172S Het
Kdm6b A T 11: 69,292,977 (GRCm39) C1266* probably null Het
Kmt2c A T 5: 25,489,343 (GRCm39) V4532E probably damaging Het
Kprp A C 3: 92,732,226 (GRCm39) F275V probably damaging Het
Lrrc4 C A 6: 28,831,595 (GRCm39) V7L probably damaging Het
Map3k21 G A 8: 126,664,050 (GRCm39) R537H probably damaging Het
Mchr1 T G 15: 81,119,980 (GRCm39) D2E probably benign Het
Mixl1 T C 1: 180,522,245 (GRCm39) D212G probably damaging Het
Mup2 T C 4: 60,139,717 (GRCm39) T24A probably benign Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Naip5 T C 13: 100,358,264 (GRCm39) K991E possibly damaging Het
Ndufb11b T A 15: 81,865,011 (GRCm39) M84K probably damaging Het
Nfe2l1 G A 11: 96,710,573 (GRCm39) A552V possibly damaging Het
Or2p2 C T 13: 21,256,784 (GRCm39) R229H possibly damaging Het
Or51r1 T G 7: 102,228,433 (GRCm39) S244A probably damaging Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Pds5a A G 5: 65,804,479 (GRCm39) S527P possibly damaging Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pgc T A 17: 48,043,351 (GRCm39) V233E probably damaging Het
Pias1 T C 9: 62,888,164 (GRCm39) probably benign Het
Pign A T 1: 105,556,246 (GRCm39) W72R unknown Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Proc A G 18: 32,268,950 (GRCm39) S12P possibly damaging Het
Rida T A 15: 34,488,823 (GRCm39) Q23L probably damaging Het
Slc22a8 A G 19: 8,587,025 (GRCm39) E406G possibly damaging Het
Slc2a7 A G 4: 150,242,625 (GRCm39) T238A probably benign Het
Spata31h1 T A 10: 82,123,894 (GRCm39) S3039C possibly damaging Het
Spp1 A G 5: 104,588,167 (GRCm39) I190V probably benign Het
Srgap1 T C 10: 121,628,257 (GRCm39) D882G probably damaging Het
Ssrp1 T A 2: 84,875,811 (GRCm39) W557R probably damaging Het
Strn C G 17: 79,043,790 (GRCm39) A43P probably benign Het
Taf6 A C 5: 138,180,465 (GRCm39) Y300D probably damaging Het
Tesk2 A G 4: 116,658,933 (GRCm39) Y270C probably damaging Het
Tnnt3 T A 7: 142,065,823 (GRCm39) D153E probably benign Het
Ubl7 A G 9: 57,826,637 (GRCm39) H117R possibly damaging Het
Vcan T A 13: 89,839,146 (GRCm39) T2133S possibly damaging Het
Vrk2 T A 11: 26,543,917 (GRCm39) probably benign Het
Wdr72 A C 9: 74,125,902 (GRCm39) Q1011P possibly damaging Het
Wls T A 3: 159,615,403 (GRCm39) I306N possibly damaging Het
Zfp654 A G 16: 64,611,496 (GRCm39) S283P probably damaging Het
Zfp956 C T 6: 47,939,462 (GRCm39) T170I 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
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'- CTCTCAGTACCGCATCAAGG -3'
(R):5'- GTGAAGTCTAGGCAACCTTCAG -3'

Sequencing Primer
(F):5'- GAGTACCCACTATATATCGAGGGC -3'
(R):5'- TTGCACATCTGGGGCATC -3'
Posted On 2021-11-19