Incidental Mutation 'R9266:Frmd4a'
ID 702511
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 # R9266 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 4022528-4618854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4610846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 999 (S999G)
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: S988G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: S988G

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: S999G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: S999G

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: S694G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134803
Gene: ENSMUSG00000026657
AA Change: S694G

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: S1003G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: S1003G

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C A 17: 36,270,178 (GRCm39) E627* probably null Het
Aoc1l2 A G 6: 48,907,171 (GRCm39) N57S probably benign Het
Arhgap42 A G 9: 9,006,386 (GRCm39) V670A probably benign Het
Arhgef16 C A 4: 154,375,922 (GRCm39) R24L probably benign Het
Atad2 A T 15: 57,985,967 (GRCm39) D251E probably benign Het
Atf2 T C 2: 73,649,271 (GRCm39) S447G probably benign Het
Atp8b1 T C 18: 64,704,108 (GRCm39) M337V probably benign Het
Atp8b1 C T 18: 64,710,528 (GRCm39) D170N possibly damaging Het
Azin2 C A 4: 128,856,230 (GRCm39) probably benign Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cdh19 A G 1: 110,817,771 (GRCm39) L657P probably damaging Het
Crybg3 A T 16: 59,372,544 (GRCm39) V598E probably damaging Het
Cwc22 A G 2: 77,754,952 (GRCm39) I208T probably benign Het
Cyp4a32 T A 4: 115,468,307 (GRCm39) D292E probably damaging Het
Dnah10 G A 5: 124,845,990 (GRCm39) V1510I probably benign Het
Dpp3 G T 19: 4,964,686 (GRCm39) Y540* probably null Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Elf1 A G 14: 79,798,290 (GRCm39) D59G probably benign Het
Epc1 A T 18: 6,449,219 (GRCm39) M476K probably benign Het
Espnl C A 1: 91,272,771 (GRCm39) S710R probably benign Het
Fam171b T C 2: 83,683,926 (GRCm39) W148R probably damaging Het
Fhod1 A G 8: 106,065,531 (GRCm39) L88P unknown Het
Glmp T C 3: 88,233,036 (GRCm39) I58T probably damaging Het
Gm45861 T A 8: 28,074,674 (GRCm39) D1341E unknown Het
Gpr179 A G 11: 97,227,766 (GRCm39) I1463T probably benign Het
Gsdmc2 T C 15: 63,698,088 (GRCm39) E339G probably damaging Het
Insm1 A T 2: 146,064,933 (GRCm39) I250F probably damaging Het
Insm1 G A 2: 146,064,943 (GRCm39) G253D possibly damaging Het
Itih1 A T 14: 30,652,222 (GRCm39) S824T probably damaging Het
Lactb A G 9: 66,878,499 (GRCm39) Y190H possibly damaging Het
Lrba T C 3: 86,198,774 (GRCm39) M197T probably benign Het
Lrrc4c A G 2: 97,459,853 (GRCm39) I160V probably benign Het
Lrrc59 A T 11: 94,532,044 (GRCm39) probably null Het
Ltk A T 2: 119,585,121 (GRCm39) M425K possibly damaging Het
Map9 T C 3: 82,278,594 (GRCm39) V198A possibly damaging Het
Mms22l T C 4: 24,578,878 (GRCm39) Y746H probably damaging Het
Ms4a4b A G 19: 11,432,060 (GRCm39) I60M probably benign Het
Mtif2 T C 11: 29,480,065 (GRCm39) W44R probably benign Het
Nadsyn1 A T 7: 143,369,348 (GRCm39) W128R probably damaging Het
Nrcam G A 12: 44,636,917 (GRCm39) A1117T probably damaging Het
Ntng1 G A 3: 110,050,923 (GRCm39) probably benign Het
Ntng1 A G 3: 110,051,162 (GRCm39) F56L unknown Het
Oas2 A T 5: 120,887,637 (GRCm39) Y68N probably damaging Het
Or4c119 A T 2: 88,986,854 (GRCm39) F222I possibly damaging Het
Or5b101 A C 19: 13,005,648 (GRCm39) L15R probably damaging Het
Or6c6c T C 10: 129,541,547 (GRCm39) S267P probably benign Het
Pals2 T C 6: 50,140,463 (GRCm39) M161T probably benign Het
Paqr8 C T 1: 21,005,863 (GRCm39) T339I probably benign Het
Pcdhga10 A G 18: 37,881,814 (GRCm39) E525G probably benign Het
Psg28 T G 7: 18,161,752 (GRCm39) L250F probably benign Het
S100a13 G T 3: 90,423,170 (GRCm39) D54Y unknown Het
Slc16a4 A T 3: 107,199,788 (GRCm39) T12S probably benign Het
Slc9b1 A G 3: 135,054,468 (GRCm39) probably benign Het
Slit3 T C 11: 35,598,808 (GRCm39) S1471P probably damaging Het
Smpdl3a T C 10: 57,678,596 (GRCm39) V133A possibly damaging Het
Snap23 C T 2: 120,414,781 (GRCm39) probably benign Het
Spp2 A G 1: 88,344,975 (GRCm39) M146V probably benign Het
Syf2 C A 4: 134,663,321 (GRCm39) N164K possibly damaging Het
Sync T G 4: 129,187,179 (GRCm39) Y70* probably null Het
Tex56 A G 13: 35,116,569 (GRCm39) K106R possibly damaging Het
Tmigd3 T C 3: 105,824,216 (GRCm39) F62L probably benign Het
Trpa1 C T 1: 14,980,953 (GRCm39) probably null Het
U2surp A T 9: 95,366,468 (GRCm39) I480N probably damaging Het
Usf3 C T 16: 44,040,095 (GRCm39) T1525I probably damaging Het
Vmn2r2 T C 3: 64,024,057 (GRCm39) I841M probably damaging Het
Zfp335 T A 2: 164,738,007 (GRCm39) Q868L probably benign Het
Zscan10 A G 17: 23,828,385 (GRCm39) E309G 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
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'- GGTATTTCCCACGGAATGCC -3'
(R):5'- GAAGGTGATAGCCCAGGCATTG -3'

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