Incidental Mutation 'R6930:Flg2'
ID 539927
Institutional Source Beutler Lab
Gene Symbol Flg2
Ensembl Gene ENSMUSG00000049133
Gene Name filaggrin family member 2
Synonyms EG229574
MMRRC Submission 045046-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R6930 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 93104585-93128698 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 93108642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 223 (Y223*)
Ref Sequence ENSEMBL: ENSMUSP00000096482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098884]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000098884
AA Change: Y223*
SMART Domains Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: Y223*

DomainStartEndE-ValueType
Pfam:S_100 4 46 1.2e-17 PFAM
low complexity region 58 70 N/A INTRINSIC
low complexity region 110 121 N/A INTRINSIC
low complexity region 131 146 N/A INTRINSIC
low complexity region 207 223 N/A INTRINSIC
internal_repeat_2 230 347 7.36e-7 PROSPERO
internal_repeat_2 349 466 7.36e-7 PROSPERO
internal_repeat_3 366 392 6.93e-6 PROSPERO
internal_repeat_6 419 471 4.17e-5 PROSPERO
low complexity region 474 550 N/A INTRINSIC
low complexity region 567 589 N/A INTRINSIC
low complexity region 593 679 N/A INTRINSIC
low complexity region 680 705 N/A INTRINSIC
low complexity region 719 748 N/A INTRINSIC
low complexity region 749 768 N/A INTRINSIC
low complexity region 772 800 N/A INTRINSIC
internal_repeat_5 804 825 4.17e-5 PROSPERO
internal_repeat_3 810 836 6.93e-6 PROSPERO
low complexity region 846 860 N/A INTRINSIC
low complexity region 863 885 N/A INTRINSIC
internal_repeat_5 895 919 4.17e-5 PROSPERO
internal_repeat_4 899 939 1.7e-5 PROSPERO
internal_repeat_1 944 1461 8.08e-127 PROSPERO
internal_repeat_6 1335 1386 4.17e-5 PROSPERO
low complexity region 1465 1485 N/A INTRINSIC
internal_repeat_1 1486 2009 8.08e-127 PROSPERO
internal_repeat_4 2123 2173 1.7e-5 PROSPERO
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,466,563 (GRCm39) D156E probably benign Het
Adam17 A T 12: 21,403,949 (GRCm39) V99E probably damaging Het
Akr1e1 T C 13: 4,652,714 (GRCm39) D41G probably damaging Het
Alcam T C 16: 52,126,018 (GRCm39) I100V probably benign Het
Atr T C 9: 95,748,688 (GRCm39) I411T probably benign Het
Bbs4 T C 9: 59,230,764 (GRCm39) S453G probably benign Het
Brdt C T 5: 107,507,081 (GRCm39) L494F probably benign Het
Ccser1 T C 6: 62,357,009 (GRCm39) S816P probably benign Het
Cdk10 T C 8: 123,957,347 (GRCm39) I157T probably damaging Het
Ceacam5 G A 7: 17,484,759 (GRCm39) probably null Het
Chst15 T C 7: 131,870,759 (GRCm39) I259V possibly damaging Het
Cracdl A T 1: 37,664,026 (GRCm39) I624N possibly damaging Het
Csmd1 A T 8: 16,142,409 (GRCm39) M1498K probably damaging Het
D630045J12Rik T C 6: 38,135,151 (GRCm39) D1343G probably damaging Het
Denr T C 5: 124,046,250 (GRCm39) Y27H probably benign Het
Dop1a T C 9: 86,413,825 (GRCm39) probably null Het
Epg5 T C 18: 78,057,378 (GRCm39) F1819S probably damaging Het
Fry T C 5: 150,351,695 (GRCm39) L1733P probably benign Het
Gabrb2 T C 11: 42,488,440 (GRCm39) V302A probably damaging Het
Gimap9 G A 6: 48,654,601 (GRCm39) D53N probably damaging Het
Gje1 G T 10: 14,593,886 (GRCm39) L3I possibly damaging Het
Gm49383 G T 12: 69,239,586 (GRCm39) A645E probably damaging Het
Gm8947 G A 1: 151,068,347 (GRCm39) G60D probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gys2 A G 6: 142,405,106 (GRCm39) probably null Het
Hace1 A G 10: 45,494,598 (GRCm39) H136R probably damaging Het
Herc3 T G 6: 58,893,444 (GRCm39) V902G probably damaging Het
Hspbp1 T C 7: 4,687,606 (GRCm39) R2G probably benign Het
Iqch T A 9: 63,387,856 (GRCm39) K811N possibly damaging Het
Kmt2a A G 9: 44,753,962 (GRCm39) probably benign Het
Lonrf2 A T 1: 38,843,417 (GRCm39) V372D probably benign Het
Lpin2 T C 17: 71,551,786 (GRCm39) Y729H probably damaging Het
Lrrc32 A G 7: 98,148,471 (GRCm39) N417S possibly damaging Het
Malrd1 T A 2: 15,802,478 (GRCm39) C1064S unknown Het
Mast3 G A 8: 71,252,115 (GRCm39) R20* probably null Het
Mypn A C 10: 62,952,718 (GRCm39) I174S probably damaging Het
Nrg1 G A 8: 32,308,534 (GRCm39) T505M probably damaging Het
Or13p8 A G 4: 118,584,338 (GRCm39) K298R probably damaging Het
Or6y1 A G 1: 174,276,677 (GRCm39) I163V probably damaging Het
Or7a42 A G 10: 78,791,615 (GRCm39) D192G possibly damaging Het
Or7e178 A G 9: 20,225,395 (GRCm39) Y266H probably damaging Het
Phf3 T C 1: 30,850,958 (GRCm39) E1132G probably damaging Het
Pla2g4d A T 2: 120,101,114 (GRCm39) M521K probably damaging Het
Plekhg1 A G 10: 3,913,770 (GRCm39) H1164R possibly damaging Het
Plxnb2 A G 15: 89,044,592 (GRCm39) V1218A probably benign Het
Pold1 A G 7: 44,191,630 (GRCm39) S119P probably benign Het
Pole T A 5: 110,441,156 (GRCm39) D203E probably benign Het
Rapgefl1 T A 11: 98,737,947 (GRCm39) L387Q probably damaging Het
Rbm33 T C 5: 28,557,504 (GRCm39) I199T probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rufy1 C A 11: 50,289,207 (GRCm39) R545L probably benign Het
Ryr3 T A 2: 112,690,699 (GRCm39) D1117V probably damaging Het
Sap130 T C 18: 31,815,141 (GRCm39) V621A possibly damaging Het
Sparcl1 T A 5: 104,234,940 (GRCm39) Y525F probably damaging Het
Spon2 A G 5: 33,373,771 (GRCm39) V180A probably benign Het
Trav10n G A 14: 53,359,947 (GRCm39) V75M probably benign Het
Ttc34 T C 4: 154,923,543 (GRCm39) L84P probably damaging Het
Vmn1r23 C T 6: 57,903,130 (GRCm39) R216K probably benign Het
Vmn2r61 A G 7: 41,949,364 (GRCm39) T595A probably benign Het
Vmn2r66 T A 7: 84,661,216 (GRCm39) I5F possibly damaging Het
Zfp879 C T 11: 50,723,839 (GRCm39) G406R probably damaging Het
Zic2 A T 14: 122,713,869 (GRCm39) D261V probably damaging Het
Other mutations in Flg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Flg2 APN 3 93,109,416 (GRCm39) nonsense probably null
IGL00092:Flg2 APN 3 93,127,162 (GRCm39) missense possibly damaging 0.90
IGL00985:Flg2 APN 3 93,110,585 (GRCm39) missense unknown
IGL01077:Flg2 APN 3 93,127,513 (GRCm39) missense unknown
IGL01093:Flg2 APN 3 93,109,678 (GRCm39) missense unknown
IGL01120:Flg2 APN 3 93,108,475 (GRCm39) missense probably damaging 0.99
IGL01473:Flg2 APN 3 93,110,327 (GRCm39) missense unknown
IGL01584:Flg2 APN 3 93,122,777 (GRCm39) missense unknown
IGL01584:Flg2 APN 3 93,120,773 (GRCm39) missense unknown
IGL01686:Flg2 APN 3 93,109,591 (GRCm39) missense unknown
IGL02207:Flg2 APN 3 93,127,435 (GRCm39) missense unknown
IGL02294:Flg2 APN 3 93,111,053 (GRCm39) missense unknown
IGL02418:Flg2 APN 3 93,108,361 (GRCm39) missense probably benign 0.26
IGL02581:Flg2 APN 3 93,127,199 (GRCm39) missense unknown
IGL02719:Flg2 APN 3 93,127,438 (GRCm39) nonsense probably null
IGL02795:Flg2 APN 3 93,110,920 (GRCm39) missense unknown
IGL02893:Flg2 APN 3 93,110,920 (GRCm39) missense unknown
IGL02958:Flg2 APN 3 93,110,920 (GRCm39) missense unknown
IGL03060:Flg2 APN 3 93,110,920 (GRCm39) missense unknown
IGL03088:Flg2 APN 3 93,110,498 (GRCm39) missense unknown
IGL03165:Flg2 APN 3 93,121,918 (GRCm39) missense unknown
IGL03342:Flg2 APN 3 93,108,542 (GRCm39) missense probably damaging 1.00
IGL03352:Flg2 APN 3 93,109,801 (GRCm39) missense unknown
IGL02796:Flg2 UTSW 3 93,110,920 (GRCm39) missense unknown
IGL02837:Flg2 UTSW 3 93,109,044 (GRCm39) missense probably damaging 1.00
PIT4618001:Flg2 UTSW 3 93,111,088 (GRCm39) missense unknown
R0087:Flg2 UTSW 3 93,109,738 (GRCm39) missense unknown
R0233:Flg2 UTSW 3 93,109,104 (GRCm39) nonsense probably null
R0233:Flg2 UTSW 3 93,109,104 (GRCm39) nonsense probably null
R0315:Flg2 UTSW 3 93,122,029 (GRCm39) missense unknown
R0390:Flg2 UTSW 3 93,107,662 (GRCm39) splice site probably benign
R0462:Flg2 UTSW 3 93,108,744 (GRCm39) missense probably benign 0.18
R0553:Flg2 UTSW 3 93,110,891 (GRCm39) missense unknown
R0828:Flg2 UTSW 3 93,110,639 (GRCm39) missense unknown
R1006:Flg2 UTSW 3 93,108,514 (GRCm39) missense probably benign 0.41
R1444:Flg2 UTSW 3 93,109,620 (GRCm39) missense unknown
R1497:Flg2 UTSW 3 93,127,076 (GRCm39) missense unknown
R1518:Flg2 UTSW 3 93,110,445 (GRCm39) missense unknown
R1737:Flg2 UTSW 3 93,110,928 (GRCm39) missense unknown
R1780:Flg2 UTSW 3 93,110,306 (GRCm39) missense unknown
R1797:Flg2 UTSW 3 93,108,283 (GRCm39) missense probably damaging 1.00
R2065:Flg2 UTSW 3 93,109,538 (GRCm39) missense unknown
R2168:Flg2 UTSW 3 93,109,244 (GRCm39) missense probably damaging 1.00
R2220:Flg2 UTSW 3 93,109,492 (GRCm39) missense unknown
R2292:Flg2 UTSW 3 93,127,984 (GRCm39) missense unknown
R2327:Flg2 UTSW 3 93,110,913 (GRCm39) nonsense probably null
R2512:Flg2 UTSW 3 93,109,082 (GRCm39) missense probably damaging 1.00
R3177:Flg2 UTSW 3 93,122,195 (GRCm39) missense unknown
R3277:Flg2 UTSW 3 93,122,195 (GRCm39) missense unknown
R3522:Flg2 UTSW 3 93,127,334 (GRCm39) missense unknown
R3779:Flg2 UTSW 3 93,109,730 (GRCm39) missense unknown
R3926:Flg2 UTSW 3 93,110,522 (GRCm39) missense unknown
R4082:Flg2 UTSW 3 93,110,828 (GRCm39) missense unknown
R4407:Flg2 UTSW 3 93,122,176 (GRCm39) missense unknown
R5152:Flg2 UTSW 3 93,122,284 (GRCm39) missense unknown
R5253:Flg2 UTSW 3 93,108,119 (GRCm39) missense probably damaging 1.00
R5290:Flg2 UTSW 3 93,127,873 (GRCm39) missense unknown
R5464:Flg2 UTSW 3 93,109,277 (GRCm39) missense possibly damaging 0.73
R5539:Flg2 UTSW 3 93,127,753 (GRCm39) missense unknown
R5622:Flg2 UTSW 3 93,109,871 (GRCm39) missense unknown
R5788:Flg2 UTSW 3 93,108,296 (GRCm39) missense probably benign 0.41
R5792:Flg2 UTSW 3 93,110,804 (GRCm39) missense unknown
R5831:Flg2 UTSW 3 93,107,541 (GRCm39) missense probably damaging 1.00
R5877:Flg2 UTSW 3 93,110,756 (GRCm39) missense unknown
R6041:Flg2 UTSW 3 93,127,668 (GRCm39) missense probably benign 0.01
R6189:Flg2 UTSW 3 93,127,381 (GRCm39) missense unknown
R6214:Flg2 UTSW 3 93,109,166 (GRCm39) missense possibly damaging 0.83
R6215:Flg2 UTSW 3 93,109,166 (GRCm39) missense possibly damaging 0.83
R6239:Flg2 UTSW 3 93,108,579 (GRCm39) missense probably benign 0.36
R6288:Flg2 UTSW 3 93,111,092 (GRCm39) missense unknown
R6413:Flg2 UTSW 3 93,127,683 (GRCm39) missense unknown
R6457:Flg2 UTSW 3 93,127,789 (GRCm39) missense unknown
R6468:Flg2 UTSW 3 93,121,728 (GRCm39) missense unknown
R6667:Flg2 UTSW 3 93,109,068 (GRCm39) missense possibly damaging 0.88
R6996:Flg2 UTSW 3 93,110,256 (GRCm39) missense unknown
R6996:Flg2 UTSW 3 93,109,977 (GRCm39) missense unknown
R7100:Flg2 UTSW 3 93,111,018 (GRCm39) missense unknown
R7133:Flg2 UTSW 3 93,127,069 (GRCm39) missense unknown
R7180:Flg2 UTSW 3 93,110,140 (GRCm39) missense unknown
R7325:Flg2 UTSW 3 93,110,679 (GRCm39) missense unknown
R7349:Flg2 UTSW 3 93,127,513 (GRCm39) missense unknown
R7531:Flg2 UTSW 3 93,108,177 (GRCm39) missense probably damaging 0.99
R7571:Flg2 UTSW 3 93,127,303 (GRCm39) nonsense probably null
R7684:Flg2 UTSW 3 93,126,956 (GRCm39) missense unknown
R7810:Flg2 UTSW 3 93,107,548 (GRCm39) missense possibly damaging 0.70
R7853:Flg2 UTSW 3 93,128,054 (GRCm39) missense unknown
R8031:Flg2 UTSW 3 93,127,521 (GRCm39) missense unknown
R8078:Flg2 UTSW 3 93,107,582 (GRCm39) missense probably damaging 1.00
R8142:Flg2 UTSW 3 93,122,782 (GRCm39) nonsense probably null
R8156:Flg2 UTSW 3 93,127,390 (GRCm39) missense unknown
R8172:Flg2 UTSW 3 93,108,468 (GRCm39) missense possibly damaging 0.94
R8204:Flg2 UTSW 3 93,110,074 (GRCm39) missense unknown
R8262:Flg2 UTSW 3 93,127,517 (GRCm39) missense unknown
R8269:Flg2 UTSW 3 93,109,187 (GRCm39) missense possibly damaging 0.68
R8290:Flg2 UTSW 3 93,110,069 (GRCm39) missense unknown
R8444:Flg2 UTSW 3 93,107,585 (GRCm39) missense probably damaging 0.97
R8670:Flg2 UTSW 3 93,108,791 (GRCm39) missense probably damaging 0.97
R8755:Flg2 UTSW 3 93,108,120 (GRCm39) missense probably damaging 1.00
R9039:Flg2 UTSW 3 93,110,899 (GRCm39) missense unknown
R9116:Flg2 UTSW 3 93,109,591 (GRCm39) missense unknown
R9214:Flg2 UTSW 3 93,110,884 (GRCm39) missense unknown
R9231:Flg2 UTSW 3 93,109,508 (GRCm39) missense unknown
R9553:Flg2 UTSW 3 93,121,901 (GRCm39) missense unknown
R9607:Flg2 UTSW 3 93,108,719 (GRCm39) missense probably damaging 0.98
R9735:Flg2 UTSW 3 93,127,669 (GRCm39) missense unknown
R9752:Flg2 UTSW 3 93,108,467 (GRCm39) missense probably damaging 0.98
Z1177:Flg2 UTSW 3 93,110,045 (GRCm39) missense unknown
Z1177:Flg2 UTSW 3 93,109,727 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GGGTCCAACTCTAAGAGGTTGG -3'
(R):5'- GGTCTGCAACATCCACTAGAATTG -3'

Sequencing Primer
(F):5'- GGCAAGATGAATTATCCAGCTC -3'
(R):5'- GCAACATCCACTAGAATTGCTAAAAC -3'
Posted On 2018-11-06