Incidental Mutation 'R4575:Frmd4a'
ID 342371
Institutional Source Beutler Lab
Gene Symbol Frmd4a
Ensembl Gene ENSMUSG00000026657
Gene Name FERM domain containing 4A
Synonyms 2700017I06Rik, C230040M21Rik, Gm13190
MMRRC Submission 041798-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R4575 (G1)
Quality Score 165
Status Not validated
Chromosome 2
Chromosomal Location 4022528-4618854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4608490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 786 (A786E)
Ref Sequence ENSEMBL: ENSMUSP00000089079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075767] [ENSMUST00000091497] [ENSMUST00000176828] [ENSMUST00000177457]
AlphaFold Q8BIE6
Predicted Effect possibly damaging
Transcript: ENSMUST00000075767
AA Change: A775E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: A775E

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 possibly damaging
Transcript: ENSMUST00000091497
AA Change: A786E

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: A786E

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: A481E

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134803
Gene: ENSMUSG00000026657
AA Change: A481E

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: A790E

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: A790E

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik C T 7: 130,964,325 (GRCm39) A26T probably benign Het
4930408O17Rik C A 12: 104,837,527 (GRCm39) noncoding transcript Het
Adgrf3 T A 5: 30,407,255 (GRCm39) M224L probably benign Het
Ago3 T C 4: 126,240,475 (GRCm39) H129R probably benign Het
Aoc1l1 C T 6: 48,954,502 (GRCm39) Q547* probably null Het
Asb10 C T 5: 24,745,052 (GRCm39) R99H probably damaging Het
Auts2 C T 5: 132,287,773 (GRCm39) G70E probably benign Het
Bltp3a T C 17: 28,106,477 (GRCm39) V1001A probably benign Het
Ccdc96 T C 5: 36,643,419 (GRCm39) V475A possibly damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Clec4b2 T A 6: 123,150,639 (GRCm39) L16Q probably damaging Het
Cyp2c68 T A 19: 39,722,805 (GRCm39) I248L probably benign Het
Cyp2d22 G T 15: 82,256,133 (GRCm39) A167E possibly damaging Het
Dpysl3 T C 18: 43,475,312 (GRCm39) K382R probably damaging Het
Dscam A G 16: 96,626,823 (GRCm39) I362T possibly damaging Het
Edil3 T C 13: 89,467,850 (GRCm39) Y452H probably damaging Het
Elfn1 T C 5: 139,957,808 (GRCm39) S271P probably benign Het
Ep300 T C 15: 81,533,210 (GRCm39) S1756P unknown Het
Ep300 T A 15: 81,495,611 (GRCm39) probably benign Het
Fgd4 T C 16: 16,254,896 (GRCm39) Q507R probably damaging Het
Frem3 A G 8: 81,342,704 (GRCm39) T1666A probably benign Het
Gabrr1 C T 4: 33,158,175 (GRCm39) T266I possibly damaging Het
Gm11563 G A 11: 99,549,275 (GRCm39) P160S unknown Het
Gm12790 T C 4: 101,825,324 (GRCm39) D30G probably benign Het
Haus8 A G 8: 71,715,736 (GRCm39) V34A probably damaging Het
Hgf T C 5: 16,777,599 (GRCm39) Y199H probably benign Het
Ide G A 19: 37,249,604 (GRCm39) P916L unknown Het
Igsf10 G T 3: 59,237,521 (GRCm39) H887N probably benign Het
Iigp1 A T 18: 60,523,218 (GRCm39) H112L probably benign Het
Impg2 A G 16: 56,082,095 (GRCm39) E1009G probably damaging Het
Khdc1a A C 1: 21,420,653 (GRCm39) D91A probably damaging Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
Kntc1 T G 5: 123,904,018 (GRCm39) L345R probably damaging Het
Kprp T C 3: 92,731,271 (GRCm39) N593S probably benign Het
Krt1c T G 15: 101,722,921 (GRCm39) D359A probably damaging Het
Krt35 A T 11: 99,986,725 (GRCm39) N96K probably benign Het
Lnx1 T C 5: 74,846,204 (GRCm39) D82G probably damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Nfib A T 4: 82,215,048 (GRCm39) S518R probably damaging Het
Nol6 T C 4: 41,120,299 (GRCm39) I473V probably benign Het
Obscn T C 11: 59,013,598 (GRCm39) D1108G probably damaging Het
Or52m2 A T 7: 102,263,976 (GRCm39) C73* probably null Het
Or7g12 C A 9: 18,900,001 (GRCm39) S239* probably null Het
Otop1 T C 5: 38,457,065 (GRCm39) Y275H probably damaging Het
Ppp1r14c G T 10: 3,316,912 (GRCm39) K82N probably damaging Het
Prr14l T C 5: 32,950,988 (GRCm39) E1935G probably damaging Het
Ptprd C T 4: 76,162,023 (GRCm39) V78I possibly damaging Het
Rfc4 T A 16: 22,933,179 (GRCm39) probably benign Het
Rpn2 C A 2: 157,137,244 (GRCm39) A209E probably damaging Het
Sf1 T C 19: 6,425,943 (GRCm39) probably benign Het
Sft2d1rt T C 11: 45,942,679 (GRCm39) D148G probably damaging Het
Skint5 T A 4: 113,524,390 (GRCm39) S864C unknown Het
Slc2a10 C G 2: 165,358,241 (GRCm39) N455K probably damaging Het
Snrnp200 T A 2: 127,076,986 (GRCm39) I1673N probably benign Het
Sri G T 5: 8,113,693 (GRCm39) G152W probably damaging Het
Srpra T C 9: 35,125,904 (GRCm39) I394T possibly damaging Het
Svop C T 5: 114,203,743 (GRCm39) V13M probably damaging Het
Traf3ip2 A G 10: 39,510,650 (GRCm39) N308D probably damaging Het
Vmn2r125 T A 4: 156,702,272 (GRCm39) D19E probably null Het
Vmn2r16 A T 5: 109,511,665 (GRCm39) Y624F 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
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
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'- GAGGTCTTAAACTGCGCTTTG -3'

Sequencing Primer
(F):5'- AATGGCTCAGACCCCATGG -3'
(R):5'- AAACTGCGCTTTGACGCTG -3'
Posted On 2015-09-24