Mutagenetix > Incidental Mutation

Incidental Mutation 'R7180:Flg2'

558883

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: 0.115) question?

Stock #

R7180 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93202833 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 723 (S723P)

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: S723P

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: S723P

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: 98.8%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	C	4: 49,381,803	Y196*	probably null	Het
Agrn	C	T	4: 156,171,839	R1405H	probably benign	Het
Agtpbp1	G	A	13: 59,466,038	H1030Y	probably benign	Het
Ankrd37	C	T	8: 45,999,854		probably benign	Het
Ap1g2	G	C	14: 55,104,451	P218R	probably damaging	Het
Ap2a1	C	T	7: 44,923,804		probably null	Het
Apc2	T	A	10: 80,311,156	D681E	possibly damaging	Het
Arhgef5	T	A	6: 43,275,208	N964K	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
Ccnf	T	A	17: 24,223,915	M773L	probably benign	Het
Ces1e	A	C	8: 93,215,144	S234A	probably damaging	Het
Ces1g	T	A	8: 93,302,948	E552V	probably benign	Het
Ctcfl	A	T	2: 173,105,977		probably null	Het
Dkk2	T	A	3: 132,086,192	S54T	probably damaging	Het
Dll1	A	G	17: 15,374,869	S49P	probably benign	Het
Dscam	C	A	16: 96,825,564	A382S	probably damaging	Het
Eif5b	A	T	1: 38,049,074	M1020L	probably damaging	Het
Enpp4	T	C	17: 44,102,037	D202G	probably benign	Het
Eps8	A	T	6: 137,479,074	I803N	possibly damaging	Het
Etv2	C	A	7: 30,635,649	G28V	probably damaging	Het
Fadd	A	T	7: 144,580,785	V121E	probably damaging	Het
Fam149b	T	C	14: 20,381,785	Y545H	probably benign	Het
Fam196b	A	G	11: 34,419,873	K526E	probably damaging	Het
Fbxl21	A	T	13: 56,523,527	M1L	probably benign	Het
Gm4884	C	T	7: 41,044,209	T534I	possibly damaging	Het
Gm8994	T	A	6: 136,329,537	I332N	probably damaging	Het
Gpbar1	A	T	1: 74,278,633	I12F	possibly damaging	Het
Gpr151	A	T	18: 42,578,956	L219*	probably null	Het
Hdgfl2	T	A	17: 56,097,532		probably null	Het
Hectd4	A	G	5: 121,308,342	M200V	probably benign	Het
Idua	A	G	5: 108,680,895	N335S	probably benign	Het
Ifit1bl1	A	T	19: 34,593,902	F385Y	probably damaging	Het
Ift172	T	C	5: 31,254,262	D1624G	probably damaging	Het
Igsf9b	A	T	9: 27,322,668	T388S	possibly damaging	Het
Ikbkap	A	T	4: 56,796,535	S118R	probably damaging	Het
Jak2	A	G	19: 29,282,411	I237V	probably benign	Het
Kat5	C	A	19: 5,603,961	K398N	probably damaging	Het
Lmbrd2	T	A	15: 9,175,196	V398E	possibly damaging	Het
Lrp1	T	C	10: 127,556,965	N2744D	probably damaging	Het
Lrrd1	T	C	5: 3,851,459	I588T	probably damaging	Het
Ltn1	A	G	16: 87,418,494	F418L	probably damaging	Het
Magi1	T	A	6: 93,815,750	D169V	probably benign	Het
Mpdz	T	C	4: 81,335,751	E1048G	probably damaging	Het
Myh9	T	C	15: 77,807,910	I150V	probably benign	Het
Nckap1	A	T	2: 80,506,892	M1006K	probably benign	Het
Nkain1	C	T	4: 130,533,925	V132I	probably benign	Het
Npy6r	A	T	18: 44,276,156	M215L	probably benign	Het
Nr3c2	A	T	8: 76,908,963	Q231L	probably damaging	Het
Obox5	C	T	7: 15,757,924	P88L	probably benign	Het
Olfr514	A	G	7: 108,825,979	S7P	probably damaging	Het
Olfr827	T	C	10: 130,210,942	T63A	probably benign	Het
P2rx7	A	G	5: 122,680,820	D435G	possibly damaging	Het
Pdzd2	T	A	15: 12,376,123	S1309C	probably damaging	Het
Pex5l	C	T	3: 33,024,691		probably null	Het
Pip	T	A	6: 41,847,631	C18S	probably damaging	Het
Pla2g7	C	T	17: 43,599,076	T157M	probably damaging	Het
Plce1	A	G	19: 38,779,785	Y2168C	probably damaging	Het
Rgs2	T	C	1: 144,002,148	T137A	probably benign	Het
Rpl32	T	A	6: 115,807,807	I31F	possibly damaging	Het
Ryr2	T	C	13: 11,686,978	Y2931C	probably damaging	Het
Slc4a4	G	A	5: 89,046,236	E192K	probably damaging	Het
Slc4a7	G	A	14: 14,765,580	A521T	probably damaging	Het
Smchd1	T	C	17: 71,394,823	E1058G	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Ssc5d	A	G	7: 4,936,601	T679A	probably benign	Het
Tas2r130	A	C	6: 131,630,248	S195A	probably benign	Het
Tas2r135	C	T	6: 42,405,751	R75*	probably null	Het
Terf2ip	G	T	8: 112,011,420		probably benign	Het
Tm6sf2	G	A	8: 70,076,006	R136K	probably benign	Het
Tmprss15	A	G	16: 78,967,998	L858P	probably damaging	Het
Topaz1	A	G	9: 122,797,705	D1466G	possibly damaging	Het
Trip4	A	T	9: 65,857,345	L446Q	probably damaging	Het
Trpv3	G	T	11: 73,277,992	V93L	probably benign	Het
Ubl4b	A	T	3: 107,554,646	H99Q	probably damaging	Het
Unc45a	A	T	7: 80,329,821		probably null	Het
Vmn1r47	G	T	6: 90,022,353	A156S	probably damaging	Het
Vmn2r33	T	A	7: 7,563,897	H72L	probably benign	Het
Zeb1	G	A	18: 5,767,867	V793M	possibly damaging	Het
Zfp628	C	A	7: 4,921,064	Q762K	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
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'- AACTGGCTTTGGGGAGCATG -3'
(R):5'- CATAGCCAGATTCCTGACCTG -3'

Sequencing Primer
(F):5'- GGAGCATGGATCCAGTTCTCATC -3'
(R):5'- GACCTGAGCCTTTCCCATG -3'

Posted On

2019-06-26