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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R9039 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93203592 bp (GRCm38)

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: 71,167,075	V692A	possibly damaging	Het
Aco2	C	G	15: 81,872,419		probably benign	Het
Adcy10	T	C	1: 165,518,345	I321T	probably damaging	Het
Agbl2	C	T	2: 90,815,386	T821I	probably benign	Het
Alpk1	A	G	3: 127,679,543	L937P	probably damaging	Het
Atp5b	A	G	10: 128,083,898	D45G	probably benign	Het
C8a	C	T	4: 104,822,003	R530H	probably benign	Het
Cacna1s	T	C	1: 136,088,319	S694P	probably benign	Het
Cdca7	T	A	2: 72,482,512	D162E	probably benign	Het
Cep78	G	T	19: 15,959,543	Q600K	probably benign	Het
Col4a3bp	C	T	13: 96,543,209	P16S	probably benign	Het
Coq8b	A	C	7: 27,250,586	R363S	probably benign	Het
Cpne3	A	T	4: 19,540,770	C202S	probably damaging	Het
Csmd3	G	T	15: 47,619,912		probably benign	Het
Cyp4a14	A	T	4: 115,487,264	V468E	probably damaging	Het
Dchs1	A	T	7: 105,756,008	D2442E	probably benign	Het
Dip2a	T	C	10: 76,327,719	Y49C	probably benign	Het
Dopey1	A	G	9: 86,500,817	R268G	probably damaging	Het
Eid3	C	T	10: 82,867,731	S342L	possibly damaging	Het
Ezh2	A	G	6: 47,551,737	L296P	possibly damaging	Het
Fgfrl1	G	C	5: 108,705,573		probably null	Het
Fsip2	C	A	2: 82,998,201	Q6781K	probably benign	Het
Gm7534	C	A	4: 134,195,547	V492F	probably damaging	Het
Golga3	C	T	5: 110,204,933	H857Y	probably benign	Het
Hmcn2	T	A	2: 31,354,634	V701E	probably damaging	Het
Il21	A	T	3: 37,232,453	I38N	probably benign	Het
Ip6k2	G	T	9: 108,804,608	G246V	probably damaging	Het
Ipo13	T	C	4: 117,900,988	Q726R	probably damaging	Het
Itsn1	A	T	16: 91,906,770	N1521Y	unknown	Het
Kif2b	A	G	11: 91,576,305	V384A	possibly damaging	Het
L3mbtl1	G	T	2: 162,966,068	R541L	probably damaging	Het
Lama3	T	A	18: 12,481,063	C1296*	probably null	Het
Lars	T	C	18: 42,257,169	D11G	probably damaging	Het
Ly6c1	C	A	15: 75,045,451	G116V	probably damaging	Het
Mmp27	C	A	9: 7,581,249	F478L	probably benign	Het
Moxd1	T	A	10: 24,279,353		probably benign	Het
Naaa	T	A	5: 92,272,441		probably benign	Het
Nav1	T	A	1: 135,443,749	Q1746L	unknown	Het
Nedd9	T	C	13: 41,318,508	Y165C	probably damaging	Het
Neurod1	T	C	2: 79,454,376	Y221C	probably damaging	Het
Olfr1040	T	C	2: 86,146,281	Y151C	probably damaging	Het
Olfr1154	T	C	2: 87,903,563	T38A	probably damaging	Het
Olfr1228	G	T	2: 89,249,201	F152L	probably benign	Het
Olfr450	A	T	6: 42,817,611	I47F	probably damaging	Het
Orm3	A	G	4: 63,356,296	N33D	possibly damaging	Het
Ppp1r3a	G	A	6: 14,754,526	P241S	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,657	T949A	probably benign	Het
Prdx6	A	T	1: 161,251,049	I23N	probably damaging	Het
Prkd3	A	T	17: 78,972,574	V334E	probably benign	Het
Prr12	A	T	7: 45,034,722	D1631E	probably damaging	Het
Ptpn22	A	G	3: 103,912,235		probably benign	Het
Pum2	T	G	12: 8,744,430	D773E	probably damaging	Het
Sidt2	A	G	9: 45,945,350	C451R	probably benign	Het
Slc37a2	A	G	9: 37,237,362	S275P	probably benign	Het
Slmap	G	T	14: 26,533,364	N54K	probably benign	Het
Susd4	A	G	1: 182,854,032	D146G	probably benign	Het
Tekt3	G	A	11: 63,081,343	R275H	possibly damaging	Het
Tkfc	A	G	19: 10,596,248	L242P	probably damaging	Het
Tm9sf2	T	A	14: 122,126,164	L99I	probably benign	Het
Triqk	A	T	4: 12,980,490	D78V	probably damaging	Het
Trmo	T	C	4: 46,382,322	D258G	probably benign	Het
Tsc2	A	G	17: 24,607,515	V920A	probably benign	Het
Tspan17	C	T	13: 54,796,178	Q257*	probably null	Het
Tube1	T	A	10: 39,135,021	F45I	probably damaging	Het
Vmn1r4	A	G	6: 56,956,837	T109A	possibly damaging	Het
Vmn2r14	A	T	5: 109,220,036	Y363*	probably null	Het
Zfp324	G	T	7: 12,971,528	G548V	probably benign	Het

Other mutations in Flg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Flg2	APN	3	93202109	nonsense	probably null
IGL00092:Flg2	APN	3	93219855	missense	possibly damaging	0.90
IGL00985:Flg2	APN	3	93203278	missense	unknown
IGL01077:Flg2	APN	3	93220206	missense	unknown
IGL01093:Flg2	APN	3	93202371	missense	unknown
IGL01120:Flg2	APN	3	93201168	missense	probably damaging	0.99
IGL01473:Flg2	APN	3	93203020	missense	unknown
IGL01584:Flg2	APN	3	93213466	missense	unknown
IGL01584:Flg2	APN	3	93215470	missense	unknown
IGL01686:Flg2	APN	3	93202284	missense	unknown
IGL02207:Flg2	APN	3	93220128	missense	unknown
IGL02294:Flg2	APN	3	93203746	missense	unknown
IGL02418:Flg2	APN	3	93201054	missense	probably benign	0.26
IGL02581:Flg2	APN	3	93219892	missense	unknown
IGL02719:Flg2	APN	3	93220131	nonsense	probably null
IGL02795:Flg2	APN	3	93203613	missense	unknown
IGL02893:Flg2	APN	3	93203613	missense	unknown
IGL02958:Flg2	APN	3	93203613	missense	unknown
IGL03060:Flg2	APN	3	93203613	missense	unknown
IGL03088:Flg2	APN	3	93203191	missense	unknown
IGL03165:Flg2	APN	3	93214611	missense	unknown
IGL03342:Flg2	APN	3	93201235	missense	probably damaging	1.00
IGL03352:Flg2	APN	3	93202494	missense	unknown
IGL02796:Flg2	UTSW	3	93203613	missense	unknown
IGL02837:Flg2	UTSW	3	93201737	missense	probably damaging	1.00
PIT4618001:Flg2	UTSW	3	93203781	missense	unknown
R0087:Flg2	UTSW	3	93202431	missense	unknown
R0233:Flg2	UTSW	3	93201797	nonsense	probably null
R0233:Flg2	UTSW	3	93201797	nonsense	probably null
R0315:Flg2	UTSW	3	93214722	missense	unknown
R0390:Flg2	UTSW	3	93200355	splice site	probably benign
R0462:Flg2	UTSW	3	93201437	missense	probably benign	0.18
R0553:Flg2	UTSW	3	93203584	missense	unknown
R0828:Flg2	UTSW	3	93203332	missense	unknown
R1006:Flg2	UTSW	3	93201207	missense	probably benign	0.41
R1444:Flg2	UTSW	3	93202313	missense	unknown
R1497:Flg2	UTSW	3	93219769	missense	unknown
R1518:Flg2	UTSW	3	93203138	missense	unknown
R1737:Flg2	UTSW	3	93203621	missense	unknown
R1780:Flg2	UTSW	3	93202999	missense	unknown
R1797:Flg2	UTSW	3	93200976	missense	probably damaging	1.00
R2065:Flg2	UTSW	3	93202231	missense	unknown
R2168:Flg2	UTSW	3	93201937	missense	probably damaging	1.00
R2220:Flg2	UTSW	3	93202185	missense	unknown
R2292:Flg2	UTSW	3	93220677	missense	unknown
R2327:Flg2	UTSW	3	93203606	nonsense	probably null
R2512:Flg2	UTSW	3	93201775	missense	probably damaging	1.00
R3177:Flg2	UTSW	3	93214888	missense	unknown
R3277:Flg2	UTSW	3	93214888	missense	unknown
R3522:Flg2	UTSW	3	93220027	missense	unknown
R3779:Flg2	UTSW	3	93202423	missense	unknown
R3926:Flg2	UTSW	3	93203215	missense	unknown
R4082:Flg2	UTSW	3	93203521	missense	unknown
R4407:Flg2	UTSW	3	93214869	missense	unknown
R5152:Flg2	UTSW	3	93214977	missense	unknown
R5253:Flg2	UTSW	3	93200812	missense	probably damaging	1.00
R5290:Flg2	UTSW	3	93220566	missense	unknown
R5464:Flg2	UTSW	3	93201970	missense	possibly damaging	0.73
R5539:Flg2	UTSW	3	93220446	missense	unknown
R5622:Flg2	UTSW	3	93202564	missense	unknown
R5788:Flg2	UTSW	3	93200989	missense	probably benign	0.41
R5792:Flg2	UTSW	3	93203497	missense	unknown
R5831:Flg2	UTSW	3	93200234	missense	probably damaging	1.00
R5877:Flg2	UTSW	3	93203449	missense	unknown
R6041:Flg2	UTSW	3	93220361	missense	probably benign	0.01
R6189:Flg2	UTSW	3	93220074	missense	unknown
R6214:Flg2	UTSW	3	93201859	missense	possibly damaging	0.83
R6215:Flg2	UTSW	3	93201859	missense	possibly damaging	0.83
R6239:Flg2	UTSW	3	93201272	missense	probably benign	0.36
R6288:Flg2	UTSW	3	93203785	missense	unknown
R6413:Flg2	UTSW	3	93220376	missense	unknown
R6457:Flg2	UTSW	3	93220482	missense	unknown
R6468:Flg2	UTSW	3	93214421	missense	unknown
R6667:Flg2	UTSW	3	93201761	missense	possibly damaging	0.88
R6930:Flg2	UTSW	3	93201335	nonsense	probably null
R6996:Flg2	UTSW	3	93202670	missense	unknown
R6996:Flg2	UTSW	3	93202949	missense	unknown
R7100:Flg2	UTSW	3	93203711	missense	unknown
R7133:Flg2	UTSW	3	93219762	missense	unknown
R7180:Flg2	UTSW	3	93202833	missense	unknown
R7325:Flg2	UTSW	3	93203372	missense	unknown
R7349:Flg2	UTSW	3	93220206	missense	unknown
R7531:Flg2	UTSW	3	93200870	missense	probably damaging	0.99
R7571:Flg2	UTSW	3	93219996	nonsense	probably null
R7684:Flg2	UTSW	3	93219649	missense	unknown
R7810:Flg2	UTSW	3	93200241	missense	possibly damaging	0.70
R7853:Flg2	UTSW	3	93220747	missense	unknown
R8031:Flg2	UTSW	3	93220214	missense	unknown
R8078:Flg2	UTSW	3	93200275	missense	probably damaging	1.00
R8142:Flg2	UTSW	3	93215475	nonsense	probably null
R8156:Flg2	UTSW	3	93220083	missense	unknown
R8172:Flg2	UTSW	3	93201161	missense	possibly damaging	0.94
R8204:Flg2	UTSW	3	93202767	missense	unknown
R8262:Flg2	UTSW	3	93220210	missense	unknown
R8269:Flg2	UTSW	3	93201880	missense	possibly damaging	0.68
R8290:Flg2	UTSW	3	93202762	missense	unknown
R8444:Flg2	UTSW	3	93200278	missense	probably damaging	0.97
R8670:Flg2	UTSW	3	93201484	missense	probably damaging	0.97
R8755:Flg2	UTSW	3	93200813	missense	probably damaging	1.00
R9116:Flg2	UTSW	3	93202284	missense	unknown
R9214:Flg2	UTSW	3	93203577	missense	unknown
R9231:Flg2	UTSW	3	93202201	missense	unknown
R9553:Flg2	UTSW	3	93214594	missense	unknown
R9607:Flg2	UTSW	3	93201412	missense	probably damaging	0.98
R9735:Flg2	UTSW	3	93220362	missense	unknown
R9752:Flg2	UTSW	3	93201160	missense	probably damaging	0.98
Z1177:Flg2	UTSW	3	93202420	missense	unknown
Z1177:Flg2	UTSW	3	93202738	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