Incidental Mutation 'R2100:Frmd4a'
ID 230403
Institutional Source Beutler Lab
Gene Symbol Frmd4a
Ensembl Gene ENSMUSG00000026657
Gene Name FERM domain containing 4A
Synonyms 2700017I06Rik, C230040M21Rik, Gm13190
MMRRC Submission 040104-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R2100 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 4022528-4618854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4610834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 995 (T995A)
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: T984A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075172
Gene: ENSMUSG00000026657
AA Change: T984A

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: T995A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000089079
Gene: ENSMUSG00000026657
AA Change: T995A

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: T690A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134803
Gene: ENSMUSG00000026657
AA Change: T690A

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: T999A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134788
Gene: ENSMUSG00000026657
AA Change: T999A

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 0.1453 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,627,183 (GRCm39) R1295W probably damaging Het
Abca8b A T 11: 109,828,608 (GRCm39) I1430N probably damaging Het
Abcb1a A G 5: 8,763,202 (GRCm39) T577A probably damaging Het
Arl5b G A 2: 15,078,006 (GRCm39) M101I probably benign Het
C1qbp T A 11: 70,868,928 (GRCm39) N278I probably benign Het
Cdh1 A T 8: 107,386,300 (GRCm39) T408S possibly damaging Het
Cfap54 T A 10: 92,837,799 (GRCm39) I1034F possibly damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Chil4 T C 3: 106,121,663 (GRCm39) K62R probably benign Het
Crebl2 A G 6: 134,828,166 (GRCm39) T113A probably benign Het
Cyp2c69 C A 19: 39,875,130 (GRCm39) V8L probably benign Het
Dpp6 A G 5: 27,869,742 (GRCm39) R447G probably damaging Het
Efcab6 A T 15: 83,777,168 (GRCm39) probably null Het
Emilin1 T G 5: 31,075,241 (GRCm39) V494G probably benign Het
Enoph1 A G 5: 100,211,645 (GRCm39) I181V probably null Het
F3 T C 3: 121,526,082 (GRCm39) V215A possibly damaging Het
Fads2b T C 2: 85,330,593 (GRCm39) N238S probably damaging Het
Fat3 G T 9: 16,288,726 (GRCm39) H266N possibly damaging Het
Garnl3 T C 2: 32,936,657 (GRCm39) T171A probably benign Het
Hspa4l T C 3: 40,727,090 (GRCm39) V476A possibly damaging Het
Impg2 A G 16: 56,051,748 (GRCm39) probably null Het
Kctd6 T C 14: 8,222,239 (GRCm38) L27P possibly damaging Het
Kmt2d G T 15: 98,744,361 (GRCm39) probably benign Het
Kremen1 AGGCGG AGGCGGCGG 11: 5,151,788 (GRCm39) probably benign Het
Lrig2 A G 3: 104,418,946 (GRCm39) L21P possibly damaging Het
Macf1 G A 4: 123,291,699 (GRCm39) Q3284* probably null Het
Mnt A G 11: 74,722,177 (GRCm39) E8G probably damaging Het
Nbeal1 A G 1: 60,344,430 (GRCm39) probably null Het
Nid2 C T 14: 19,828,946 (GRCm39) Q331* probably null Het
Nlrx1 A G 9: 44,173,905 (GRCm39) L432P probably damaging Het
Nop2 T A 6: 125,117,785 (GRCm39) D445E probably damaging Het
Nup62 T C 7: 44,478,921 (GRCm39) probably benign Het
Oas2 A G 5: 120,883,740 (GRCm39) probably null Het
Or5b121 A G 19: 13,507,798 (GRCm39) I298V probably benign Het
Or5p1 A T 7: 107,916,761 (GRCm39) Y220F probably benign Het
Or5w10 T A 2: 87,375,169 (GRCm39) T240S probably damaging Het
Or8k40 A T 2: 86,584,905 (GRCm39) M59K possibly damaging Het
Or9i14 A G 19: 13,792,600 (GRCm39) M118T possibly damaging Het
P3h3 T A 6: 124,822,005 (GRCm39) T623S probably damaging Het
Pkp3 T C 7: 140,663,205 (GRCm39) V350A probably damaging Het
Plekha3 T A 2: 76,523,007 (GRCm39) I225N probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rnf213 A T 11: 119,358,128 (GRCm39) K4292* probably null Het
Rtkn T C 6: 83,126,541 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Snx10 T C 6: 51,565,395 (GRCm39) Y171H probably damaging Het
Stx12 A T 4: 132,587,913 (GRCm39) I173N possibly damaging Het
Thrb T A 14: 18,030,393 (GRCm38) M379K possibly damaging Het
Tmem132e T A 11: 82,335,357 (GRCm39) V813E probably damaging Het
Tnfsf12 T C 11: 69,578,175 (GRCm39) E134G probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpbgl T A 7: 99,275,651 (GRCm39) I69F possibly damaging Het
Ythdc1 T A 5: 86,964,544 (GRCm39) S130T possibly damaging Het
Zbp1 A G 2: 173,051,037 (GRCm39) S278P probably damaging Het
Zfp30 A G 7: 29,492,951 (GRCm39) T483A probably benign Het
Zfp322a G A 13: 23,541,460 (GRCm39) S94L possibly damaging Het
Zfp646 T G 7: 127,481,359 (GRCm39) Y1179D probably 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
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
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'- AACAAAGGTATTTCCCACGGAATG -3'
(R):5'- ATAGCCCAGGCATTGCTTTG -3'

Sequencing Primer
(F):5'- GGTATTTCCCACGGAATGCCTTG -3'
(R):5'- AGGCATTGCTTTGATTCTTGGCAC -3'
Posted On 2014-09-18