Mutagenetix > Incidental Mutation

Incidental Mutation 'R7853:Flg2'

607045

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

MMRRC Submission

045906-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7853 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93220747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 2322 (P2322Q)

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: P2322Q

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: P2322Q

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

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,473,680	I26T	probably damaging	Het
Aadacl4	G	T	4: 144,618,022	A123S	probably benign	Het
Adamts20	A	C	15: 94,345,990	C619G	probably damaging	Het
Ahcyl1	C	A	3: 107,668,288	V394L	probably benign	Het
Ankrd17	A	C	5: 90,238,966	L2378V	possibly damaging	Het
B3gnt3	T	C	8: 71,692,713	Y337C	probably damaging	Het
Bcl10	A	G	3: 145,924,511	K18R	possibly damaging	Het
Calcr	G	A	6: 3,707,499	A267V	probably benign	Het
Ces1d	C	T	8: 93,175,067	G425S	probably benign	Het
Col1a1	G	T	11: 94,947,679	R899L	unknown	Het
Commd1	C	T	11: 22,956,532	R168H	possibly damaging	Het
Cps1	T	C	1: 67,174,481	S791P	possibly damaging	Het
Ctsj	T	A	13: 61,004,070	I58F	probably damaging	Het
Cyp2j5	T	A	4: 96,641,419	K238N	probably benign	Het
Dlgap4	A	G	2: 156,705,882	D423G	probably benign	Het
Egln1	T	C	8: 124,948,517	N180D	probably benign	Het
Ehd1	T	C	19: 6,277,195	F74S	probably damaging	Het
Ext1	G	A	15: 53,107,485	A350V	probably damaging	Het
Fam186b	T	A	15: 99,280,747	I233F	probably damaging	Het
Fam193a	T	G	5: 34,440,129	N91K	probably benign	Het
Far1	T	A	7: 113,554,148	N329K	probably damaging	Het
Fhad1	A	G	4: 141,909,823	S1111P	probably damaging	Het
Fhl2	A	G	1: 43,141,824	S69P	probably damaging	Het
Flvcr1	A	G	1: 191,025,646	Y108H	probably damaging	Het
Fos	T	A	12: 85,476,018	S235T	probably benign	Het
Foxf1	T	A	8: 121,084,699	S101T	probably damaging	Het
Gfer	C	A	17: 24,694,285	D198Y	probably damaging	Het
Ggps1	T	C	13: 14,054,449	I50V	probably benign	Het
Gkn2	A	G	6: 87,378,273	T155A	probably benign	Het
Gm49333	T	A	16: 20,644,260		probably null	Het
Gna12	C	T	5: 140,760,694	C332Y	probably damaging	Het
H2-Ke6	T	G	17: 34,027,437	D117A	probably benign	Het
Hc	T	A	2: 35,010,033	Y1096F	probably damaging	Het
Hoxa3	G	A	6: 52,170,287		probably benign	Het
Ifi206	A	T	1: 173,471,534	Y835*	probably null	Het
Ighv13-2	T	G	12: 114,357,924	E65A	probably damaging	Het
Kif5a	A	T	10: 127,235,668	Y770*	probably null	Het
Lfng	A	G	5: 140,607,629	S72G	probably benign	Het
Lipo2	C	T	19: 33,759,944		probably benign	Het
Lnpep	C	T	17: 17,562,847	S564N	probably benign	Het
Mfhas1	T	A	8: 35,589,871	L500*	probably null	Het
Mllt6	G	A	11: 97,670,316	V277I	probably benign	Het
Mroh5	C	T	15: 73,791,340	D192N	probably benign	Het
Myo1f	T	A	17: 33,576,698	V106D	probably damaging	Het
Mypn	T	A	10: 63,145,873	I643F	probably benign	Het
Nup188	A	G	2: 30,323,563	N669D	possibly damaging	Het
Olfr126	C	G	17: 37,850,823	T77R	probably damaging	Het
Olfr154	T	C	2: 85,664,345	T30A	probably benign	Het
Olfr281	T	C	15: 98,456,985	V225A	probably benign	Het
Olfr458	A	T	6: 42,460,639	C127S	probably damaging	Het
Osbpl10	A	G	9: 115,207,658	T241A	probably damaging	Het
Peg3	C	T	7: 6,708,840	E1128K	possibly damaging	Het
Plch1	C	A	3: 63,773,647	M186I	probably benign	Het
Pon3	A	C	6: 5,236,911	L152R	probably damaging	Het
Prr36	G	A	8: 4,213,905	P587L	unknown	Het
Psma2	T	A	13: 14,625,247	I192N	probably damaging	Het
Rbm11	T	C	16: 75,593,035	F30L	probably damaging	Het
Rpap3	G	A	15: 97,678,418	A622V	possibly damaging	Het
Scgb2b11	T	A	7: 32,209,382	N98Y	probably damaging	Het
Siglec1	A	G	2: 131,081,292	L511P	probably damaging	Het
Sirpb1c	C	T	3: 15,832,992	V228M	probably damaging	Het
Smpd4	T	A	16: 17,642,741	Y804N	probably damaging	Het
Sult6b2	T	C	6: 142,801,798	D75G	not run	Het
Sycp3	A	C	10: 88,466,506	K119N	probably damaging	Het
Syne2	T	C	12: 76,031,504	L4703P	probably damaging	Het
Tex12	C	G	9: 50,559,223	L20F	possibly damaging	Het
Them5	T	A	3: 94,343,296	Y55*	probably null	Het
Tmem43	A	T	6: 91,481,986	D213V	probably benign	Het
Tnfrsf10b	A	C	14: 69,767,790	Q44P	unknown	Het
Trbv2	A	T	6: 41,047,902	Q84L	probably benign	Het
Trim2	C	T	3: 84,305,230		probably benign	Het
Trim36	A	G	18: 46,172,491	V475A	probably benign	Het
Ttbk1	C	A	17: 46,447,343	E788D	probably benign	Het
Ttn	T	C	2: 76,713,282	D33120G	probably damaging	Het
Ttn	T	A	2: 76,745,912	N24879I	probably damaging	Het
Ube4a	T	A	9: 44,953,010	Q76L	probably benign	Het
Vmn2r27	T	A	6: 124,192,021	I717F	probably damaging	Het
Vmn2r45	T	C	7: 8,482,988	K434E	possibly damaging	Het
Vta1	T	C	10: 14,655,717	T305A	probably damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		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
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'- TATACTGCATTGGAACTGAACAGTG -3'
(R):5'- GTAGACCTACAAACAGATCTTGCAC -3'

Sequencing Primer
(F):5'- AGTGTATATATTTACCAAGTGCAACC -3'
(R):5'- TACAAACAGATCTTGCACCAAAC -3'

Posted On

2019-12-20