Mutagenetix > Incidental Mutation

Incidental Mutation 'R5152:Flg2'

395423

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

MMRRC Submission

042734-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R5152 (G1)

Quality Score

109

Status

Not validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93214977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 1485 (P1485T)

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: P1485T

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: P1485T

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

99% (83/84)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,540,623	S1503P	probably benign	Het
Actn3	C	A	19: 4,863,544	V620F	probably damaging	Het
Adamtsl3	A	G	7: 82,574,544	K252E	probably benign	Het
Adgrg1	A	G	8: 95,009,745	Y509C	probably damaging	Het
Arhgef2	G	A	3: 88,629,568		probably null	Het
Bod1l	T	C	5: 41,816,543	E2476G	probably benign	Het
C130026I21Rik	G	A	1: 85,261,860	P19S	probably benign	Het
Capn3	T	C	2: 120,501,330		probably benign	Het
Catsperz	T	C	19: 6,923,337	T147A	probably benign	Het
Cc2d1b	C	A	4: 108,626,086	A289E	probably benign	Het
Ccdc170	A	C	10: 4,561,107	H722P	probably damaging	Het
Cdk13	C	A	13: 17,718,525	A1358S	probably benign	Het
Cntn6	T	A	6: 104,569,113		probably benign	Het
Coch	A	G	12: 51,595,442	N66D	probably benign	Het
Col12a1	A	G	9: 79,656,748	S1732P	probably damaging	Het
Copa	T	A	1: 172,118,061	V917E	probably benign	Het
Csmd2	C	A	4: 128,552,035	N3299K	probably benign	Het
Cyp2c67	A	T	19: 39,638,688	F233I	probably benign	Het
D630039A03Rik	T	A	4: 57,910,434	H126L	probably damaging	Het
Ddx46	T	C	13: 55,659,030	L492P	probably damaging	Het
Dpysl3	C	T	18: 43,438,080	G43D	probably benign	Het
Enpp5	C	T	17: 44,081,133	P151L	probably damaging	Het
Exoc3l4	T	C	12: 111,430,893		probably benign	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fmo5	A	G	3: 97,641,762	Y242C	probably benign	Het
Fsip2	C	A	2: 82,978,572	T1745N	probably benign	Het
Gata4	T	A	14: 63,241,121	N10Y	probably damaging	Het
Gm10722	A	C	9: 3,001,041	Y39S	probably benign	Het
Gm4787	A	C	12: 81,378,677	S236A	probably benign	Het
Gm9125	T	C	3: 94,050,144		probably benign	Het
Golga7	A	C	8: 23,245,949	S94A	probably benign	Het
Gpbp1	A	G	13: 111,453,281		probably benign	Het
Grm1	A	G	10: 11,079,875	Y222H	probably benign	Het
Gstcd	A	G	3: 133,084,956	Y17H	possibly damaging	Het
Hephl1	C	A	9: 15,080,185	D586Y	probably damaging	Het
Hpn	C	A	7: 31,099,836	V35L	probably damaging	Het
Il23r	T	A	6: 67,423,741	N535I	probably damaging	Het
Inpp4a	T	C	1: 37,358,535	I45T	possibly damaging	Het
Itgae	G	C	11: 73,130,995	G901R	probably damaging	Het
Kif28	T	C	1: 179,702,538	D686G	probably damaging	Het
Kit	A	G	5: 75,620,847	E312G	probably benign	Het
Lamb2	C	A	9: 108,487,738	S1230R	probably benign	Het
Lars	A	T	18: 42,228,777	D588E	possibly damaging	Het
Lgr4	T	A	2: 110,000,603	F292I	probably damaging	Het
Lmf1	C	T	17: 25,655,519	S458L	probably damaging	Het
Lpin2	T	A	17: 71,245,159	C787S	probably damaging	Het
Ms4a4a	A	C	19: 11,388,312	I138L	probably benign	Het
Mterf1a	A	T	5: 3,890,984	F295I	probably damaging	Het
Muc4	A	T	16: 32,757,058	K241*	probably null	Het
Muc5b	T	C	7: 141,865,531	F4017S	possibly damaging	Het
Nfkbil1	T	C	17: 35,221,408		probably benign	Het
Olfr1269	A	G	2: 90,119,121	L159P	probably damaging	Het
Olfr935	A	T	9: 38,995,177	V86E	possibly damaging	Het
Olfr976	T	C	9: 39,956,906	T22A	probably benign	Het
Osgep	T	C	14: 50,917,858	D81G	probably damaging	Het
Otos	A	G	1: 92,644,394	F70S	probably damaging	Het
Pcdhb2	T	A	18: 37,296,126	V384D	probably damaging	Het
Ppp1r10	C	T	17: 35,929,252	P514S	probably damaging	Het
Pramef17	G	A	4: 143,994,260	P37L	probably damaging	Het
Prdm16	A	G	4: 154,346,102	Y309H	probably damaging	Het
Rap1gds1	A	T	3: 138,956,201	D382E	probably damaging	Het
Reln	A	G	5: 21,948,629	F2226L	probably damaging	Het
Rmi2	C	T	16: 10,839,901	T125M	probably damaging	Het
Setd1a	C	T	7: 127,784,025	T231I	probably benign	Het
Sftpa1	G	A	14: 41,134,352	G218D	probably damaging	Het
Shcbp1	A	T	8: 4,736,138	F655I	probably damaging	Het
Slc5a7	T	C	17: 54,278,833	I319V	possibly damaging	Het
Spata31d1c	C	T	13: 65,035,595	T317I	probably damaging	Het
Speg	C	T	1: 75,428,098	P2845S	possibly damaging	Het
Synpo2	A	G	3: 123,235,901		probably null	Het
Tdrd7	T	A	4: 46,013,191	S644T	probably damaging	Het
Tmem182	T	A	1: 40,838,300	Y112N	probably damaging	Het
Usp45	T	A	4: 21,824,815	N522K	probably benign	Het
Vnn3	A	T	10: 23,864,339	Y180F	probably benign	Het
Wnk1	C	T	6: 120,002,280	R282Q	possibly damaging	Het
Xrn1	A	T	9: 95,964,065	D57V	probably benign	Het
Zfp831	T	C	2: 174,644,564	V344A	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
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'- ATCTCCAAGGAGCTCACCAG -3'
(R):5'- TCTACTGCTGTCCTGAGAGG -3'

Sequencing Primer
(F):5'- AGAGACATTCTGGATCCGGTCAC -3'
(R):5'- TCCTGAGAGGGCCCTTGAG -3'

Posted On

2016-06-21