Mutagenetix > Incidental Mutation

Incidental Mutation 'R2168:Flg2'

235595

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

MMRRC Submission

040171-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2168 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 93201937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 424 (S424L)

Ref Sequence

ENSEMBL: ENSMUSP00000096482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098884] [ENSMUST00000194707]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000098884
AA Change: S424L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: S424L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194707

SMART Domains

Protein: ENSMUSP00000141201
Gene: ENSMUSG00000049133

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0969

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	A	2: 127,878,781	I188N	probably damaging	Het
Akr1c14	T	C	13: 4,081,106	V266A	probably damaging	Het
Als2cl	C	A	9: 110,888,742	P301H	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Cpsf1	A	T	15: 76,603,737	N53K	possibly damaging	Het
Ctsll3	C	T	13: 60,800,935	G69R	possibly damaging	Het
F2	C	T	2: 91,628,348	R539Q	probably damaging	Het
Fam78b	G	A	1: 167,078,650	G126D	probably damaging	Het
Fancd2	A	G	6: 113,591,159	I1332V	possibly damaging	Het
Fpr1	T	C	17: 17,877,209	T173A	possibly damaging	Het
Gas2l3	A	G	10: 89,414,098	V386A	probably benign	Het
Gdap2	A	C	3: 100,187,883	E269A	probably benign	Het
Gm16432	C	T	1: 178,015,911		probably benign	Het
Igf2bp2	T	A	16: 22,079,608		probably null	Het
Ipo11	T	C	13: 106,879,610		probably null	Het
Itpr2	G	T	6: 146,111,678	P2667Q	probably benign	Het
Itsn2	G	T	12: 4,633,044		probably benign	Het
Jakmip2	A	G	18: 43,565,930	L488P	probably damaging	Het
Lrp1b	A	T	2: 41,375,846	C248S	probably damaging	Het
Lrrc17	A	T	5: 21,575,048	D340V	probably damaging	Het
Megf9	T	C	4: 70,433,442	T481A	probably damaging	Het
Mrc1	T	C	2: 14,244,204	S184P	possibly damaging	Het
Msh4	A	T	3: 153,867,835	Y533*	probably null	Het
Mug1	A	G	6: 121,870,499	N612S	probably benign	Het
Nectin2	G	T	7: 19,730,614	S288R	probably damaging	Het
Neurog2	A	T	3: 127,634,105	H126L	probably damaging	Het
Nol10	A	T	12: 17,373,584	E310V	probably damaging	Het
Olfr1209	A	G	2: 88,910,178	S72P	probably damaging	Het
Olfr1366	T	G	13: 21,537,252	K251T	probably damaging	Het
Olfr191	T	A	16: 59,085,586	K299I	probably benign	Het
Olfr573-ps1	A	T	7: 102,942,471	F35L	probably benign	Het
Pappa	A	C	4: 65,156,445	D412A	probably damaging	Het
Pcdhb7	T	A	18: 37,343,282	F490L	probably benign	Het
Pcsk1	T	A	13: 75,112,534		probably benign	Het
Plekhn1	T	A	4: 156,221,882	D577V	probably damaging	Het
Prrc2c	C	A	1: 162,710,334		probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Pzp	G	A	6: 128,488,047	T1288M	probably damaging	Het
Radil	A	C	5: 142,506,963	H63Q	probably benign	Het
Rai1	T	C	11: 60,187,596	S829P	probably benign	Het
Rd3	A	G	1: 191,983,527	I88V	probably damaging	Het
Rfesd	T	C	13: 76,008,125	D54G	probably damaging	Het
Rnf213	A	C	11: 119,415,070	K568T	probably damaging	Het
Scaper	T	A	9: 55,743,639	K913N	probably damaging	Het
Serpina3c	T	C	12: 104,149,369		probably null	Het
Serpinb6d	A	T	13: 33,666,374	K61N	probably benign	Het
Skint4	A	T	4: 112,086,986		probably null	Het
Sod1	T	C	16: 90,220,913	I19T	possibly damaging	Het
Stfa3	C	A	16: 36,450,680	G81*	probably null	Het
Ubr4	A	G	4: 139,410,649	T1106A	probably benign	Het
Uggt2	T	A	14: 119,019,505	N1106Y	probably damaging	Het
Vmn1r217	G	A	13: 23,114,544	Q63*	probably null	Het
Vmn2r-ps159	A	T	4: 156,338,378		noncoding transcript	Het
Vps13b	C	A	15: 35,792,188	P2201T	probably damaging	Het
Vps13b	C	A	15: 35,792,189	P2201Q	probably damaging	Het
Vps13d	G	T	4: 145,087,323		probably benign	Het
Zer1	A	G	2: 30,104,875	C503R	probably damaging	Het
Zfp369	T	C	13: 65,296,948	V635A	probably benign	Het
Zfp608	A	T	18: 54,898,053	Y938*	probably null	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
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
R9039:Flg2	UTSW	3	93203592	missense	unknown
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'- CAAAGAATGGGTTCAAGTCACTC -3'
(R):5'- TGACCTGAGCCAGATCCATG -3'

Sequencing Primer
(F):5'- AGAATGGGTTCAAGTCACTCTTCTTG -3'
(R):5'- ATGCTGCCCATAGTGACATG -3'

Posted On

2014-10-01