Incidental Mutation 'R6189:Flg2'
ID 502361
Institutional Source Beutler Lab
Gene Symbol Flg2
Ensembl Gene ENSMUSG00000049133
Gene Name filaggrin family member 2
Synonyms EG229574
MMRRC Submission 044329-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R6189 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 93197278-93221391 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93220074 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 2098 (C2098S)
Ref Sequence ENSEMBL: ENSMUSP00000096482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098884] [ENSMUST00000194707]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000098884
AA Change: C2098S
SMART Domains Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: C2098S

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
Predicted Effect
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194707
SMART Domains Protein: ENSMUSP00000141201
Gene: ENSMUSG00000049133

DomainStartEndE-ValueType
SCOP:d1qlka_ 1 35 6e-10 SMART
low complexity region 53 64 N/A INTRINSIC
low complexity region 74 89 N/A INTRINSIC
low complexity region 150 166 N/A INTRINSIC
low complexity region 339 354 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (74/76)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,167,054 (GRCm38) probably benign Het
Abca8a T C 11: 110,030,884 (GRCm38) D1448G probably damaging Het
Actn2 C T 13: 12,276,440 (GRCm38) D693N probably damaging Het
Adam3 A C 8: 24,711,336 (GRCm38) I267R probably benign Het
Akap2 A G 4: 57,855,928 (GRCm38) E419G probably benign Het
Aldh1l2 A G 10: 83,508,013 (GRCm38) probably null Het
C4bp T C 1: 130,636,819 (GRCm38) Y376C probably damaging Het
Cacna1h A G 17: 25,397,844 (GRCm38) W101R probably damaging Het
Ccdc97 T A 7: 25,716,098 (GRCm38) T47S probably benign Het
Cenatac G A 9: 44,410,321 (GRCm38) R328C probably benign Het
Cnot6l G A 5: 96,098,277 (GRCm38) T171I probably benign Het
Cntnap2 T A 6: 47,271,298 (GRCm38) S1213T probably damaging Het
Cxcl10 A T 5: 92,348,113 (GRCm38) L55Q probably benign Het
Cyp1a1 T C 9: 57,700,683 (GRCm38) V198A probably damaging Het
Dclre1b A G 3: 103,803,533 (GRCm38) V354A probably damaging Het
Dmxl1 C T 18: 49,893,335 (GRCm38) H1837Y probably benign Het
Dnajc13 G C 9: 104,213,886 (GRCm38) D665E probably benign Het
Dnmbp T A 19: 43,901,511 (GRCm38) T606S probably benign Het
Dnmbp T C 19: 43,890,309 (GRCm38) T108A probably benign Het
Dok5 T A 2: 170,800,851 (GRCm38) I23N probably damaging Het
Eml2 G A 7: 19,201,163 (GRCm38) V432I probably damaging Het
Epha5 A T 5: 84,237,540 (GRCm38) F311I probably damaging Het
Erbb4 T A 1: 68,043,916 (GRCm38) M1059L probably benign Het
Fbxo40 A G 16: 36,966,164 (GRCm38) I681T probably benign Het
Gpr87 T A 3: 59,179,229 (GRCm38) D285V probably damaging Het
Hrh1 T A 6: 114,479,998 (GRCm38) V80D probably damaging Het
Hunk G A 16: 90,487,881 (GRCm38) R351K probably benign Het
Ifna12 A G 4: 88,603,011 (GRCm38) W100R probably damaging Het
Ift57 G A 16: 49,763,813 (GRCm38) G310S probably damaging Het
Igf1r T A 7: 68,207,336 (GRCm38) Y1015* probably null Het
Igkv14-130 T C 6: 67,791,448 (GRCm38) I96T probably damaging Het
Il34 C T 8: 110,742,718 (GRCm38) S155N probably benign Het
Itga7 T C 10: 128,950,403 (GRCm38) S938P possibly damaging Het
Itgam A G 7: 128,112,504 (GRCm38) M764V probably benign Het
Lao1 T A 4: 118,967,880 (GRCm38) M299K probably benign Het
Lnpep A T 17: 17,566,739 (GRCm38) S533T possibly damaging Het
Lrp4 T C 2: 91,475,234 (GRCm38) V283A possibly damaging Het
Magi3 G T 3: 104,050,865 (GRCm38) H635N probably damaging Het
Mecr A T 4: 131,865,254 (GRCm38) probably null Het
Mgrn1 T C 16: 4,910,810 (GRCm38) probably null Het
Micalcl A C 7: 112,412,880 (GRCm38) N646H probably damaging Het
Mymk C T 2: 27,067,365 (GRCm38) V39I possibly damaging Het
Nav3 T C 10: 109,720,019 (GRCm38) S1684G probably damaging Het
Ntn5 A T 7: 45,693,220 (GRCm38) D330V probably benign Het
Nup42 G T 5: 24,175,454 (GRCm38) G149V probably damaging Het
Nutm2 T A 13: 50,469,738 (GRCm38) V157D possibly damaging Het
Obscn T C 11: 59,069,934 (GRCm38) I3460V probably benign Het
Or8u10 A T 2: 86,084,913 (GRCm38) M288K possibly damaging Het
Pcdh15 C T 10: 74,342,651 (GRCm38) A580V probably null Het
Pcdhb10 T A 18: 37,412,403 (GRCm38) H177Q probably damaging Het
Pitx2 T C 3: 129,218,469 (GRCm38) Y130H probably damaging Het
Pmch G T 10: 88,091,386 (GRCm38) probably null Het
Pofut2 T A 10: 77,268,586 (GRCm38) I399N probably damaging Het
Prr36 C A 8: 4,214,177 (GRCm38) probably benign Het
Ptprq C A 10: 107,517,887 (GRCm38) C2256F probably damaging Het
Rassf5 G A 1: 131,244,979 (GRCm38) A51V probably damaging Het
Retnla A G 16: 48,842,895 (GRCm38) I54V probably benign Het
Rimbp2 A G 5: 128,803,897 (GRCm38) L142P probably benign Het
Ripk1 A G 13: 34,032,501 (GRCm38) T564A probably benign Het
Robo4 G A 9: 37,403,533 (GRCm38) E228K probably benign Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,579,906 (GRCm38) probably benign Homo
Rusc1 A T 3: 89,089,012 (GRCm38) L132Q probably damaging Het
Serpinb9h A T 13: 33,404,444 (GRCm38) E337D probably benign Het
Setd1a T C 7: 127,778,283 (GRCm38) probably null Het
Slc38a6 A T 12: 73,310,196 (GRCm38) K122M probably damaging Het
Speer4a2 A G 5: 26,085,693 (GRCm38) I160T probably benign Het
Susd5 A T 9: 114,095,658 (GRCm38) D203V probably damaging Het
Trip4 G A 9: 65,879,152 (GRCm38) R110* probably null Het
Tuba4a T A 1: 75,216,874 (GRCm38) I95F probably benign Het
Ube2q2 T A 9: 55,162,983 (GRCm38) S70T probably benign Het
Umodl1 A G 17: 30,996,282 (GRCm38) I1027V possibly damaging Het
Unc80 G A 1: 66,677,471 (GRCm38) V2917I probably benign Het
Vmn1r70 T A 7: 10,633,671 (GRCm38) C29S probably benign Het
Vmn2r94 A T 17: 18,257,734 (GRCm38) D138E probably benign Het
Wee2 C T 6: 40,449,683 (GRCm38) H129Y probably damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,412,514 (GRCm38) probably benign Het
Zfp872 A T 9: 22,197,131 (GRCm38) D42V probably benign Het
Zic5 T G 14: 122,464,974 (GRCm38) D115A unknown Het
Other mutations in Flg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Flg2 APN 3 93,202,109 (GRCm38) nonsense probably null
IGL00092:Flg2 APN 3 93,219,855 (GRCm38) missense possibly damaging 0.90
IGL00985:Flg2 APN 3 93,203,278 (GRCm38) missense unknown
IGL01077:Flg2 APN 3 93,220,206 (GRCm38) missense unknown
IGL01093:Flg2 APN 3 93,202,371 (GRCm38) missense unknown
IGL01120:Flg2 APN 3 93,201,168 (GRCm38) missense probably damaging 0.99
IGL01473:Flg2 APN 3 93,203,020 (GRCm38) missense unknown
IGL01584:Flg2 APN 3 93,215,470 (GRCm38) missense unknown
IGL01584:Flg2 APN 3 93,213,466 (GRCm38) missense unknown
IGL01686:Flg2 APN 3 93,202,284 (GRCm38) missense unknown
IGL02207:Flg2 APN 3 93,220,128 (GRCm38) missense unknown
IGL02294:Flg2 APN 3 93,203,746 (GRCm38) missense unknown
IGL02418:Flg2 APN 3 93,201,054 (GRCm38) missense probably benign 0.26
IGL02581:Flg2 APN 3 93,219,892 (GRCm38) missense unknown
IGL02719:Flg2 APN 3 93,220,131 (GRCm38) nonsense probably null
IGL02795:Flg2 APN 3 93,203,613 (GRCm38) missense unknown
IGL02893:Flg2 APN 3 93,203,613 (GRCm38) missense unknown
IGL02958:Flg2 APN 3 93,203,613 (GRCm38) missense unknown
IGL03060:Flg2 APN 3 93,203,613 (GRCm38) missense unknown
IGL03088:Flg2 APN 3 93,203,191 (GRCm38) missense unknown
IGL03165:Flg2 APN 3 93,214,611 (GRCm38) missense unknown
IGL03342:Flg2 APN 3 93,201,235 (GRCm38) missense probably damaging 1.00
IGL03352:Flg2 APN 3 93,202,494 (GRCm38) missense unknown
IGL02796:Flg2 UTSW 3 93,203,613 (GRCm38) missense unknown
IGL02837:Flg2 UTSW 3 93,201,737 (GRCm38) missense probably damaging 1.00
PIT4618001:Flg2 UTSW 3 93,203,781 (GRCm38) missense unknown
R0087:Flg2 UTSW 3 93,202,431 (GRCm38) missense unknown
R0233:Flg2 UTSW 3 93,201,797 (GRCm38) nonsense probably null
R0233:Flg2 UTSW 3 93,201,797 (GRCm38) nonsense probably null
R0315:Flg2 UTSW 3 93,214,722 (GRCm38) missense unknown
R0390:Flg2 UTSW 3 93,200,355 (GRCm38) splice site probably benign
R0462:Flg2 UTSW 3 93,201,437 (GRCm38) missense probably benign 0.18
R0553:Flg2 UTSW 3 93,203,584 (GRCm38) missense unknown
R0828:Flg2 UTSW 3 93,203,332 (GRCm38) missense unknown
R1006:Flg2 UTSW 3 93,201,207 (GRCm38) missense probably benign 0.41
R1444:Flg2 UTSW 3 93,202,313 (GRCm38) missense unknown
R1497:Flg2 UTSW 3 93,219,769 (GRCm38) missense unknown
R1518:Flg2 UTSW 3 93,203,138 (GRCm38) missense unknown
R1737:Flg2 UTSW 3 93,203,621 (GRCm38) missense unknown
R1780:Flg2 UTSW 3 93,202,999 (GRCm38) missense unknown
R1797:Flg2 UTSW 3 93,200,976 (GRCm38) missense probably damaging 1.00
R2065:Flg2 UTSW 3 93,202,231 (GRCm38) missense unknown
R2168:Flg2 UTSW 3 93,201,937 (GRCm38) missense probably damaging 1.00
R2220:Flg2 UTSW 3 93,202,185 (GRCm38) missense unknown
R2292:Flg2 UTSW 3 93,220,677 (GRCm38) missense unknown
R2327:Flg2 UTSW 3 93,203,606 (GRCm38) nonsense probably null
R2512:Flg2 UTSW 3 93,201,775 (GRCm38) missense probably damaging 1.00
R3177:Flg2 UTSW 3 93,214,888 (GRCm38) missense unknown
R3277:Flg2 UTSW 3 93,214,888 (GRCm38) missense unknown
R3522:Flg2 UTSW 3 93,220,027 (GRCm38) missense unknown
R3779:Flg2 UTSW 3 93,202,423 (GRCm38) missense unknown
R3926:Flg2 UTSW 3 93,203,215 (GRCm38) missense unknown
R4082:Flg2 UTSW 3 93,203,521 (GRCm38) missense unknown
R4407:Flg2 UTSW 3 93,214,869 (GRCm38) missense unknown
R5152:Flg2 UTSW 3 93,214,977 (GRCm38) missense unknown
R5253:Flg2 UTSW 3 93,200,812 (GRCm38) missense probably damaging 1.00
R5290:Flg2 UTSW 3 93,220,566 (GRCm38) missense unknown
R5464:Flg2 UTSW 3 93,201,970 (GRCm38) missense possibly damaging 0.73
R5539:Flg2 UTSW 3 93,220,446 (GRCm38) missense unknown
R5622:Flg2 UTSW 3 93,202,564 (GRCm38) missense unknown
R5788:Flg2 UTSW 3 93,200,989 (GRCm38) missense probably benign 0.41
R5792:Flg2 UTSW 3 93,203,497 (GRCm38) missense unknown
R5831:Flg2 UTSW 3 93,200,234 (GRCm38) missense probably damaging 1.00
R5877:Flg2 UTSW 3 93,203,449 (GRCm38) missense unknown
R6041:Flg2 UTSW 3 93,220,361 (GRCm38) missense probably benign 0.01
R6214:Flg2 UTSW 3 93,201,859 (GRCm38) missense possibly damaging 0.83
R6215:Flg2 UTSW 3 93,201,859 (GRCm38) missense possibly damaging 0.83
R6239:Flg2 UTSW 3 93,201,272 (GRCm38) missense probably benign 0.36
R6288:Flg2 UTSW 3 93,203,785 (GRCm38) missense unknown
R6413:Flg2 UTSW 3 93,220,376 (GRCm38) missense unknown
R6457:Flg2 UTSW 3 93,220,482 (GRCm38) missense unknown
R6468:Flg2 UTSW 3 93,214,421 (GRCm38) missense unknown
R6667:Flg2 UTSW 3 93,201,761 (GRCm38) missense possibly damaging 0.88
R6930:Flg2 UTSW 3 93,201,335 (GRCm38) nonsense probably null
R6996:Flg2 UTSW 3 93,202,949 (GRCm38) missense unknown
R6996:Flg2 UTSW 3 93,202,670 (GRCm38) missense unknown
R7100:Flg2 UTSW 3 93,203,711 (GRCm38) missense unknown
R7133:Flg2 UTSW 3 93,219,762 (GRCm38) missense unknown
R7180:Flg2 UTSW 3 93,202,833 (GRCm38) missense unknown
R7325:Flg2 UTSW 3 93,203,372 (GRCm38) missense unknown
R7349:Flg2 UTSW 3 93,220,206 (GRCm38) missense unknown
R7531:Flg2 UTSW 3 93,200,870 (GRCm38) missense probably damaging 0.99
R7571:Flg2 UTSW 3 93,219,996 (GRCm38) nonsense probably null
R7684:Flg2 UTSW 3 93,219,649 (GRCm38) missense unknown
R7810:Flg2 UTSW 3 93,200,241 (GRCm38) missense possibly damaging 0.70
R7853:Flg2 UTSW 3 93,220,747 (GRCm38) missense unknown
R8031:Flg2 UTSW 3 93,220,214 (GRCm38) missense unknown
R8078:Flg2 UTSW 3 93,200,275 (GRCm38) missense probably damaging 1.00
R8142:Flg2 UTSW 3 93,215,475 (GRCm38) nonsense probably null
R8156:Flg2 UTSW 3 93,220,083 (GRCm38) missense unknown
R8172:Flg2 UTSW 3 93,201,161 (GRCm38) missense possibly damaging 0.94
R8204:Flg2 UTSW 3 93,202,767 (GRCm38) missense unknown
R8262:Flg2 UTSW 3 93,220,210 (GRCm38) missense unknown
R8269:Flg2 UTSW 3 93,201,880 (GRCm38) missense possibly damaging 0.68
R8290:Flg2 UTSW 3 93,202,762 (GRCm38) missense unknown
R8444:Flg2 UTSW 3 93,200,278 (GRCm38) missense probably damaging 0.97
R8670:Flg2 UTSW 3 93,201,484 (GRCm38) missense probably damaging 0.97
R8755:Flg2 UTSW 3 93,200,813 (GRCm38) missense probably damaging 1.00
R9039:Flg2 UTSW 3 93,203,592 (GRCm38) missense unknown
R9116:Flg2 UTSW 3 93,202,284 (GRCm38) missense unknown
R9214:Flg2 UTSW 3 93,203,577 (GRCm38) missense unknown
R9231:Flg2 UTSW 3 93,202,201 (GRCm38) missense unknown
R9553:Flg2 UTSW 3 93,214,594 (GRCm38) missense unknown
R9607:Flg2 UTSW 3 93,201,412 (GRCm38) missense probably damaging 0.98
R9735:Flg2 UTSW 3 93,220,362 (GRCm38) missense unknown
R9752:Flg2 UTSW 3 93,201,160 (GRCm38) missense probably damaging 0.98
Z1177:Flg2 UTSW 3 93,202,738 (GRCm38) missense unknown
Z1177:Flg2 UTSW 3 93,202,420 (GRCm38) missense unknown
Predicted Primers PCR Primer
(F):5'- GTAGACTTTCTGGCCATTATGGAAG -3'
(R):5'- AGGTACTACTACAGAATGGCCATG -3'

Sequencing Primer
(F):5'- CTTTCTGGCCATTATGGAAGAAATC -3'
(R):5'- TGGCCATGACTACACTCATG -3'
Posted On 2018-02-27