Mutagenetix > Incidental Mutation

Incidental Mutation 'R9039:Flg2'

687594

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R9039 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93104585-93128698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93110899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 976 (R976G)

Ref Sequence

ENSEMBL: ENSMUSP00000096482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098884]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000098884
AA Change: R976G

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: R976G

Domain	Start	End	E-Value	Type
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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,213,849 (GRCm39)	V692A	possibly damaging	Het
Aco2	C	G	15: 81,756,620 (GRCm39)		probably benign	Het
Adcy10	T	C	1: 165,345,914 (GRCm39)	I321T	probably damaging	Het
Agbl2	C	T	2: 90,645,730 (GRCm39)	T821I	probably benign	Het
Alpk1	A	G	3: 127,473,192 (GRCm39)	L937P	probably damaging	Het
Atp5f1b	A	G	10: 127,919,767 (GRCm39)	D45G	probably benign	Het
C8a	C	T	4: 104,679,200 (GRCm39)	R530H	probably benign	Het
Cacna1s	T	C	1: 136,016,057 (GRCm39)	S694P	probably benign	Het
Cdca7	T	A	2: 72,312,856 (GRCm39)	D162E	probably benign	Het
Cep78	G	T	19: 15,936,907 (GRCm39)	Q600K	probably benign	Het
Cert1	C	T	13: 96,679,717 (GRCm39)	P16S	probably benign	Het
Coq8b	A	C	7: 26,950,011 (GRCm39)	R363S	probably benign	Het
Cpne3	A	T	4: 19,540,770 (GRCm39)	C202S	probably damaging	Het
Csmd3	G	T	15: 47,483,308 (GRCm39)		probably benign	Het
Cyp4a14	A	T	4: 115,344,461 (GRCm39)	V468E	probably damaging	Het
Dchs1	A	T	7: 105,405,215 (GRCm39)	D2442E	probably benign	Het
Dip2a	T	C	10: 76,163,553 (GRCm39)	Y49C	probably benign	Het
Dop1a	A	G	9: 86,382,870 (GRCm39)	R268G	probably damaging	Het
Eid3	C	T	10: 82,703,565 (GRCm39)	S342L	possibly damaging	Het
Ezh2	A	G	6: 47,528,671 (GRCm39)	L296P	possibly damaging	Het
Fgfrl1	G	C	5: 108,853,439 (GRCm39)		probably null	Het
Fsip2	C	A	2: 82,828,545 (GRCm39)	Q6781K	probably benign	Het
Golga3	C	T	5: 110,352,799 (GRCm39)	H857Y	probably benign	Het
Hmcn2	T	A	2: 31,244,646 (GRCm39)	V701E	probably damaging	Het
Il21	A	T	3: 37,286,602 (GRCm39)	I38N	probably benign	Het
Ip6k2	G	T	9: 108,681,807 (GRCm39)	G246V	probably damaging	Het
Ipo13	T	C	4: 117,758,185 (GRCm39)	Q726R	probably damaging	Het
Itsn1	A	T	16: 91,703,658 (GRCm39)	N1521Y	unknown	Het
Kif2b	A	G	11: 91,467,131 (GRCm39)	V384A	possibly damaging	Het
L3mbtl1	G	T	2: 162,807,988 (GRCm39)	R541L	probably damaging	Het
Lama3	T	A	18: 12,614,120 (GRCm39)	C1296*	probably null	Het
Lars1	T	C	18: 42,390,234 (GRCm39)	D11G	probably damaging	Het
Ly6c1	C	A	15: 74,917,300 (GRCm39)	G116V	probably damaging	Het
Mmp27	C	A	9: 7,581,250 (GRCm39)	F478L	probably benign	Het
Moxd1	T	A	10: 24,155,251 (GRCm39)		probably benign	Het
Naaa	T	A	5: 92,420,300 (GRCm39)		probably benign	Het
Nav1	T	A	1: 135,371,487 (GRCm39)	Q1746L	unknown	Het
Nedd9	T	C	13: 41,471,984 (GRCm39)	Y165C	probably damaging	Het
Neurod1	T	C	2: 79,284,720 (GRCm39)	Y221C	probably damaging	Het
Or2q1	A	T	6: 42,794,545 (GRCm39)	I47F	probably damaging	Het
Or4c122	G	T	2: 89,079,545 (GRCm39)	F152L	probably benign	Het
Or5al6	T	C	2: 85,976,625 (GRCm39)	Y151C	probably damaging	Het
Or9m1	T	C	2: 87,733,907 (GRCm39)	T38A	probably damaging	Het
Orm3	A	G	4: 63,274,533 (GRCm39)	N33D	possibly damaging	Het
Ppp1r3a	G	A	6: 14,754,525 (GRCm39)	P241S	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,657 (GRCm39)	T949A	probably benign	Het
Prdx6	A	T	1: 161,078,619 (GRCm39)	I23N	probably damaging	Het
Prkd3	A	T	17: 79,280,003 (GRCm39)	V334E	probably benign	Het
Prr12	A	T	7: 44,684,146 (GRCm39)	D1631E	probably damaging	Het
Ptpn22	A	G	3: 103,819,551 (GRCm39)		probably benign	Het
Pum2	T	G	12: 8,794,430 (GRCm39)	D773E	probably damaging	Het
Sidt2	A	G	9: 45,856,648 (GRCm39)	C451R	probably benign	Het
Slc37a2	A	G	9: 37,148,658 (GRCm39)	S275P	probably benign	Het
Slmap	G	T	14: 26,254,519 (GRCm39)	N54K	probably benign	Het
Susd4	A	G	1: 182,681,597 (GRCm39)	D146G	probably benign	Het
Tekt3	G	A	11: 62,972,169 (GRCm39)	R275H	possibly damaging	Het
Tkfc	A	G	19: 10,573,612 (GRCm39)	L242P	probably damaging	Het
Tm9sf2	T	A	14: 122,363,576 (GRCm39)	L99I	probably benign	Het
Triqk	A	T	4: 12,980,490 (GRCm39)	D78V	probably damaging	Het
Trmo	T	C	4: 46,382,322 (GRCm39)	D258G	probably benign	Het
Tsc2	A	G	17: 24,826,489 (GRCm39)	V920A	probably benign	Het
Tspan17	C	T	13: 54,943,991 (GRCm39)	Q257*	probably null	Het
Tube1	T	A	10: 39,011,017 (GRCm39)	F45I	probably damaging	Het
Vmn1r4	A	G	6: 56,933,822 (GRCm39)	T109A	possibly damaging	Het
Vmn2r14	A	T	5: 109,367,902 (GRCm39)	Y363*	probably null	Het
Zfp324	G	T	7: 12,705,455 (GRCm39)	G548V	probably benign	Het
Zpld2	C	A	4: 133,922,858 (GRCm39)	V492F	probably damaging	Het

Other mutations in Flg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6930:Flg2	UTSW	3	93,108,642 (GRCm39)	nonsense	probably null
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
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'- ATGGCCAACATAGACATCCG -3'
(R):5'- GTTGATGTCTTGCCTGACCC -3'

Sequencing Primer
(F):5'- TGGCCAACATAGACATCCGCTATC -3'
(R):5'- CAGTGACTGGATCCAGAATGTCTC -3'

Posted On

2021-11-19