Mutagenetix > Incidental Mutation

Incidental Mutation 'R9607:Flg2'

723917

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: 0.086) question?

Stock #

R9607 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93201412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 249 (Y249C)

Ref Sequence

ENSEMBL: ENSMUSP00000096482 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000098884
AA Change: Y249C

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: Y249C

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

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,937,086		probably null	Het
Atp8a1	T	C	5: 67,659,907	Y927C		Het
BC037034	T	C	5: 138,261,600	D398G	probably damaging	Het
Bckdhb	A	G	9: 83,989,291	I208V	probably benign	Het
Cacna1g	T	C	11: 94,465,888	I141V	probably benign	Het
Celsr1	A	G	15: 86,031,028	S915P		Het
Celsr3	G	A	9: 108,840,502		probably null	Het
Cep295	A	T	9: 15,322,713	D2262E	probably damaging	Het
Chil3	T	C	3: 106,160,369	K160R	probably null	Het
Cmtr1	G	T	17: 29,674,222	A72S	probably benign	Het
Cpa5	T	C	6: 30,626,339	F233S	probably damaging	Het
Creb3l3	G	A	10: 81,084,901	R432W	probably damaging	Het
Csdc2	A	G	15: 81,946,887	D45G	possibly damaging	Het
Csmd3	G	T	15: 47,755,415	T1859K	probably damaging	Het
Cxxc1	T	C	18: 74,220,408		probably null	Het
Dcc	A	G	18: 71,588,001	S430P	probably damaging	Het
Dera	T	G	6: 137,856,734	S270A	unknown	Het
Dnaaf1	A	G	8: 119,582,611	E146G	possibly damaging	Het
Dsg4	A	T	18: 20,452,990	T246S	probably benign	Het
Eif4g3	A	G	4: 138,165,734	E766G	probably benign	Het
Ep400	A	C	5: 110,683,939	C2146G	unknown	Het
Epas1	A	T	17: 86,826,610	T516S	probably benign	Het
Espn	A	G	4: 152,135,482	S395P	probably benign	Het
Fam124b	T	A	1: 80,213,096	Q190L	probably damaging	Het
Filip1	T	A	9: 79,819,120	D739V	probably damaging	Het
Gm9008	A	T	6: 76,496,940	L231*	probably null	Het
Gon4l	T	A	3: 88,858,444	S391T	probably damaging	Het
Hoxa5	G	T	6: 52,204,216	Y45*	probably null	Het
Ift172	A	G	5: 31,253,569	F1715S		Het
Klhdc9	T	A	1: 171,359,556	H262L	probably damaging	Het
Krt16	C	A	11: 100,247,627	D232Y	probably damaging	Het
Lrrd1	A	G	5: 3,851,561	E622G	probably damaging	Het
Mars	A	T	10: 127,308,624	C182*	probably null	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Msrb2	C	A	2: 19,394,319	N164K	probably damaging	Het
Muc2	T	A	7: 141,751,453	C604S		Het
Mup17	T	C	4: 61,593,666	I124V	probably benign	Het
Myo18b	T	C	5: 112,874,678	M283V	unknown	Het
Ndn	C	T	7: 62,348,589	P61L	possibly damaging	Het
Nepro	T	C	16: 44,731,469	L230P	probably damaging	Het
Nes	A	G	3: 87,976,206	N591D	probably benign	Het
Nfrkb	T	C	9: 31,414,770	S1170P	possibly damaging	Het
Nphs1	A	T	7: 30,463,587	T430S	probably damaging	Het
Nrp1	T	C	8: 128,425,781	V157A	probably benign	Het
Nup188	T	A	2: 30,307,712	D259E	probably benign	Het
Olfr1463	A	T	19: 13,234,589	N113I		Het
Olfr466	G	T	13: 65,153,071	M282I	probably benign	Het
Olfr669	T	C	7: 104,939,000	M158T	probably benign	Het
Olfr905	A	G	9: 38,473,617	Y290C	probably damaging	Het
Park2	A	G	17: 12,004,076	Y371C	probably damaging	Het
Pcdha8	T	A	18: 36,993,164	L233Q	probably damaging	Het
Pcdhga12	T	A	18: 37,768,336	F740L	probably damaging	Het
Pglyrp4	G	A	3: 90,730,844	G155D	probably damaging	Het
Piezo2	G	A	18: 63,386,276		probably benign	Het
Pirb	G	A	7: 3,717,618	R294C	possibly damaging	Het
Ppil1	A	T	17: 29,251,507	*167K	probably null	Het
Prdm10	G	T	9: 31,349,190	D647Y	probably damaging	Het
Prrc2b	T	A	2: 32,208,782	I702N	probably damaging	Het
Rtp4	T	A	16: 23,520,476		probably null	Het
Sema6c	A	G	3: 95,169,234	H277R	probably benign	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc41a2	A	G	10: 83,283,767	L377P	probably damaging	Het
Soga1	T	G	2: 157,027,568	E1049A	probably damaging	Het
Svil	T	C	18: 5,058,126	Y630H	possibly damaging	Het
Tbata	A	G	10: 61,175,847	H54R	probably benign	Het
Tnfaip2	C	A	12: 111,445,635	Q157K	possibly damaging	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Vmn2r74	T	A	7: 85,961,411	R24S	probably benign	Het
Vmn2r90	G	A	17: 17,733,376	V601M	possibly damaging	Het
Vmn2r-ps117	A	G	17: 18,823,678	T339A	probably benign	Het
Xirp2	C	T	2: 67,510,762	H1116Y	possibly damaging	Het
Xrcc1	A	G	7: 24,566,265	D156G	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
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
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'- ACCATGGGTCTATCTTTGGTC -3'
(R):5'- GTACGGCAAGACTGATTTCCTTG -3'

Sequencing Primer
(F):5'- TGGTCACTCTTGGAGTAGTAACAAAG -3'
(R):5'- AAGACTGATTTCCTTGTCCCTGTG -3'

Posted On

2022-09-12