Mutagenetix > Incidental Mutation

Incidental Mutation 'R7531:Flg2'

583299

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

MMRRC Submission

045603-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R7531 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93104585-93128698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93108177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 68 (R68S)

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: R68S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: R68S

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,286,332 (GRCm39)	T2501S	probably damaging	Het
Abcg3	A	G	5: 105,125,507 (GRCm39)	Y59H	probably benign	Het
Acsf2	G	T	11: 94,464,057 (GRCm39)		probably null	Het
Adam25	T	A	8: 41,206,914 (GRCm39)	I60K	probably damaging	Het
Agrn	A	T	4: 156,254,261 (GRCm39)	V1729E	probably damaging	Het
Aldh9a1	G	A	1: 167,177,895 (GRCm39)	V31I	probably benign	Het
Aqp5	T	C	15: 99,489,180 (GRCm39)	F10L	possibly damaging	Het
Arfgap2	T	A	2: 91,104,089 (GRCm39)		probably null	Het
Asb7	T	C	7: 66,328,884 (GRCm39)	H52R	probably damaging	Het
Aspa	G	A	11: 73,204,351 (GRCm39)	Q206*	probably null	Het
Bpgm	A	G	6: 34,481,223 (GRCm39)	I207V	possibly damaging	Het
Brinp2	A	G	1: 158,094,142 (GRCm39)	S187P	possibly damaging	Het
Clec4e	A	G	6: 123,262,533 (GRCm39)	F128S	probably benign	Het
Crisp3	A	G	17: 40,545,629 (GRCm39)	F82L	probably benign	Het
Cry2	A	G	2: 92,243,350 (GRCm39)	L497P	probably damaging	Het
Dcxr	A	G	11: 120,617,832 (GRCm39)	V48A	probably benign	Het
Ddx11	A	T	17: 66,445,214 (GRCm39)	T379S	probably benign	Het
Depdc1a	A	C	3: 159,228,276 (GRCm39)	T343P	probably damaging	Het
Dhx36	T	C	3: 62,392,389 (GRCm39)	I546V	probably damaging	Het
Fam114a2	A	G	11: 57,404,542 (GRCm39)	V74A	probably benign	Het
Fcgbpl1	T	C	7: 27,839,656 (GRCm39)	F490L	probably benign	Het
Glb1l3	T	C	9: 26,764,950 (GRCm39)	I154V	possibly damaging	Het
Gm45844	T	C	7: 7,243,185 (GRCm39)	T22A	probably benign	Het
Gramd2a	A	T	9: 59,617,193 (GRCm39)	I83F	probably damaging	Het
Hcn4	A	G	9: 58,767,420 (GRCm39)	T994A	unknown	Het
Hectd1	C	T	12: 51,853,150 (GRCm39)	V124I	probably benign	Het
Hmcn1	A	T	1: 150,562,531 (GRCm39)	D2342E	probably benign	Het
Hyal6	A	T	6: 24,740,786 (GRCm39)	H313L	possibly damaging	Het
Ifnab	T	A	4: 88,609,523 (GRCm39)		probably benign	Het
Keap1	A	G	9: 21,148,623 (GRCm39)	I128T	probably benign	Het
Kit	T	C	5: 75,767,700 (GRCm39)	S28P	probably damaging	Het
Krtap5-3	T	A	7: 141,755,942 (GRCm39)	C260S	unknown	Het
Lepr	T	A	4: 101,609,372 (GRCm39)	W320R	probably damaging	Het
Lmod3	A	T	6: 97,225,403 (GRCm39)	N139K	probably benign	Het
Marchf1	C	G	8: 66,838,989 (GRCm39)	S10R	probably benign	Het
Naa35	A	T	13: 59,765,755 (GRCm39)	K380*	probably null	Het
Npy1r	C	A	8: 67,157,546 (GRCm39)	F285L	probably damaging	Het
Nr1h3	C	T	2: 91,014,739 (GRCm39)	R427H	probably damaging	Het
Or5p79	T	A	7: 108,221,269 (GRCm39)	N83K	probably benign	Het
Pate2	A	G	9: 35,582,008 (GRCm39)		probably null	Het
Pcmt1	A	G	10: 7,556,369 (GRCm39)		probably null	Het
Prg4	T	G	1: 150,330,786 (GRCm39)	E629A	unknown	Het
Rin2	T	G	2: 145,700,419 (GRCm39)	S199A	probably benign	Het
Ror1	T	A	4: 100,298,388 (GRCm39)	L587Q	probably damaging	Het
Rsl1	T	A	13: 67,324,566 (GRCm39)	C31S	possibly damaging	Het
Scn4a	A	G	11: 106,239,523 (GRCm39)		probably null	Het
Sema3a	T	C	5: 13,615,805 (GRCm39)	Y410H	probably damaging	Het
Smpd5	T	C	15: 76,180,539 (GRCm39)	V447A	probably benign	Het
Tax1bp1	A	T	6: 52,723,682 (GRCm39)	D524V	probably benign	Het
Tesc	A	T	5: 118,197,523 (GRCm39)	Y179F	probably damaging	Het
Tm9sf2	T	C	14: 122,379,824 (GRCm39)	S292P	possibly damaging	Het
Unc45b	A	G	11: 82,819,838 (GRCm39)	D543G	probably damaging	Het
Usp4	T	A	9: 108,249,879 (GRCm39)	V469E	probably damaging	Het
Vmn1r10	T	A	6: 57,090,924 (GRCm39)	I172N	possibly damaging	Het
Zfyve16	A	G	13: 92,659,473 (GRCm39)	L146S	probably damaging	Het

Other mutations in Flg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Flg2	APN	3	93,109,416 (GRCm39)	nonsense	probably null
IGL00092:Flg2	APN	3	93,127,162 (GRCm39)	missense	possibly damaging	0.90
IGL00985:Flg2	APN	3	93,110,585 (GRCm39)	missense	unknown
IGL01077:Flg2	APN	3	93,127,513 (GRCm39)	missense	unknown
IGL01093:Flg2	APN	3	93,109,678 (GRCm39)	missense	unknown
IGL01120:Flg2	APN	3	93,108,475 (GRCm39)	missense	probably damaging	0.99
IGL01473:Flg2	APN	3	93,110,327 (GRCm39)	missense	unknown
IGL01584:Flg2	APN	3	93,122,777 (GRCm39)	missense	unknown
IGL01584:Flg2	APN	3	93,120,773 (GRCm39)	missense	unknown
IGL01686:Flg2	APN	3	93,109,591 (GRCm39)	missense	unknown
IGL02207:Flg2	APN	3	93,127,435 (GRCm39)	missense	unknown
IGL02294:Flg2	APN	3	93,111,053 (GRCm39)	missense	unknown
IGL02418:Flg2	APN	3	93,108,361 (GRCm39)	missense	probably benign	0.26
IGL02581:Flg2	APN	3	93,127,199 (GRCm39)	missense	unknown
IGL02719:Flg2	APN	3	93,127,438 (GRCm39)	nonsense	probably null
IGL02795:Flg2	APN	3	93,110,920 (GRCm39)	missense	unknown
IGL02893:Flg2	APN	3	93,110,920 (GRCm39)	missense	unknown
IGL02958:Flg2	APN	3	93,110,920 (GRCm39)	missense	unknown
IGL03060:Flg2	APN	3	93,110,920 (GRCm39)	missense	unknown
IGL03088:Flg2	APN	3	93,110,498 (GRCm39)	missense	unknown
IGL03165:Flg2	APN	3	93,121,918 (GRCm39)	missense	unknown
IGL03342:Flg2	APN	3	93,108,542 (GRCm39)	missense	probably damaging	1.00
IGL03352:Flg2	APN	3	93,109,801 (GRCm39)	missense	unknown
IGL02796:Flg2	UTSW	3	93,110,920 (GRCm39)	missense	unknown
IGL02837:Flg2	UTSW	3	93,109,044 (GRCm39)	missense	probably damaging	1.00
PIT4618001:Flg2	UTSW	3	93,111,088 (GRCm39)	missense	unknown
R0087:Flg2	UTSW	3	93,109,738 (GRCm39)	missense	unknown
R0233:Flg2	UTSW	3	93,109,104 (GRCm39)	nonsense	probably null
R0233:Flg2	UTSW	3	93,109,104 (GRCm39)	nonsense	probably null
R0315:Flg2	UTSW	3	93,122,029 (GRCm39)	missense	unknown
R0390:Flg2	UTSW	3	93,107,662 (GRCm39)	splice site	probably benign
R0462:Flg2	UTSW	3	93,108,744 (GRCm39)	missense	probably benign	0.18
R0553:Flg2	UTSW	3	93,110,891 (GRCm39)	missense	unknown
R0828:Flg2	UTSW	3	93,110,639 (GRCm39)	missense	unknown
R1006:Flg2	UTSW	3	93,108,514 (GRCm39)	missense	probably benign	0.41
R1444:Flg2	UTSW	3	93,109,620 (GRCm39)	missense	unknown
R1497:Flg2	UTSW	3	93,127,076 (GRCm39)	missense	unknown
R1518:Flg2	UTSW	3	93,110,445 (GRCm39)	missense	unknown
R1737:Flg2	UTSW	3	93,110,928 (GRCm39)	missense	unknown
R1780:Flg2	UTSW	3	93,110,306 (GRCm39)	missense	unknown
R1797:Flg2	UTSW	3	93,108,283 (GRCm39)	missense	probably damaging	1.00
R2065:Flg2	UTSW	3	93,109,538 (GRCm39)	missense	unknown
R2168:Flg2	UTSW	3	93,109,244 (GRCm39)	missense	probably damaging	1.00
R2220:Flg2	UTSW	3	93,109,492 (GRCm39)	missense	unknown
R2292:Flg2	UTSW	3	93,127,984 (GRCm39)	missense	unknown
R2327:Flg2	UTSW	3	93,110,913 (GRCm39)	nonsense	probably null
R2512:Flg2	UTSW	3	93,109,082 (GRCm39)	missense	probably damaging	1.00
R3177:Flg2	UTSW	3	93,122,195 (GRCm39)	missense	unknown
R3277:Flg2	UTSW	3	93,122,195 (GRCm39)	missense	unknown
R3522:Flg2	UTSW	3	93,127,334 (GRCm39)	missense	unknown
R3779:Flg2	UTSW	3	93,109,730 (GRCm39)	missense	unknown
R3926:Flg2	UTSW	3	93,110,522 (GRCm39)	missense	unknown
R4082:Flg2	UTSW	3	93,110,828 (GRCm39)	missense	unknown
R4407:Flg2	UTSW	3	93,122,176 (GRCm39)	missense	unknown
R5152:Flg2	UTSW	3	93,122,284 (GRCm39)	missense	unknown
R5253:Flg2	UTSW	3	93,108,119 (GRCm39)	missense	probably damaging	1.00
R5290:Flg2	UTSW	3	93,127,873 (GRCm39)	missense	unknown
R5464:Flg2	UTSW	3	93,109,277 (GRCm39)	missense	possibly damaging	0.73
R5539:Flg2	UTSW	3	93,127,753 (GRCm39)	missense	unknown
R5622:Flg2	UTSW	3	93,109,871 (GRCm39)	missense	unknown
R5788:Flg2	UTSW	3	93,108,296 (GRCm39)	missense	probably benign	0.41
R5792:Flg2	UTSW	3	93,110,804 (GRCm39)	missense	unknown
R5831:Flg2	UTSW	3	93,107,541 (GRCm39)	missense	probably damaging	1.00
R5877:Flg2	UTSW	3	93,110,756 (GRCm39)	missense	unknown
R6041:Flg2	UTSW	3	93,127,668 (GRCm39)	missense	probably benign	0.01
R6189:Flg2	UTSW	3	93,127,381 (GRCm39)	missense	unknown
R6214:Flg2	UTSW	3	93,109,166 (GRCm39)	missense	possibly damaging	0.83
R6215:Flg2	UTSW	3	93,109,166 (GRCm39)	missense	possibly damaging	0.83
R6239:Flg2	UTSW	3	93,108,579 (GRCm39)	missense	probably benign	0.36
R6288:Flg2	UTSW	3	93,111,092 (GRCm39)	missense	unknown
R6413:Flg2	UTSW	3	93,127,683 (GRCm39)	missense	unknown
R6457:Flg2	UTSW	3	93,127,789 (GRCm39)	missense	unknown
R6468:Flg2	UTSW	3	93,121,728 (GRCm39)	missense	unknown
R6667:Flg2	UTSW	3	93,109,068 (GRCm39)	missense	possibly damaging	0.88
R6930:Flg2	UTSW	3	93,108,642 (GRCm39)	nonsense	probably null
R6996:Flg2	UTSW	3	93,110,256 (GRCm39)	missense	unknown
R6996:Flg2	UTSW	3	93,109,977 (GRCm39)	missense	unknown
R7100:Flg2	UTSW	3	93,111,018 (GRCm39)	missense	unknown
R7133:Flg2	UTSW	3	93,127,069 (GRCm39)	missense	unknown
R7180:Flg2	UTSW	3	93,110,140 (GRCm39)	missense	unknown
R7325:Flg2	UTSW	3	93,110,679 (GRCm39)	missense	unknown
R7349:Flg2	UTSW	3	93,127,513 (GRCm39)	missense	unknown
R7571:Flg2	UTSW	3	93,127,303 (GRCm39)	nonsense	probably null
R7684:Flg2	UTSW	3	93,126,956 (GRCm39)	missense	unknown
R7810:Flg2	UTSW	3	93,107,548 (GRCm39)	missense	possibly damaging	0.70
R7853:Flg2	UTSW	3	93,128,054 (GRCm39)	missense	unknown
R8031:Flg2	UTSW	3	93,127,521 (GRCm39)	missense	unknown
R8078:Flg2	UTSW	3	93,107,582 (GRCm39)	missense	probably damaging	1.00
R8142:Flg2	UTSW	3	93,122,782 (GRCm39)	nonsense	probably null
R8156:Flg2	UTSW	3	93,127,390 (GRCm39)	missense	unknown
R8172:Flg2	UTSW	3	93,108,468 (GRCm39)	missense	possibly damaging	0.94
R8204:Flg2	UTSW	3	93,110,074 (GRCm39)	missense	unknown
R8262:Flg2	UTSW	3	93,127,517 (GRCm39)	missense	unknown
R8269:Flg2	UTSW	3	93,109,187 (GRCm39)	missense	possibly damaging	0.68
R8290:Flg2	UTSW	3	93,110,069 (GRCm39)	missense	unknown
R8444:Flg2	UTSW	3	93,107,585 (GRCm39)	missense	probably damaging	0.97
R8670:Flg2	UTSW	3	93,108,791 (GRCm39)	missense	probably damaging	0.97
R8755:Flg2	UTSW	3	93,108,120 (GRCm39)	missense	probably damaging	1.00
R9039:Flg2	UTSW	3	93,110,899 (GRCm39)	missense	unknown
R9116:Flg2	UTSW	3	93,109,591 (GRCm39)	missense	unknown
R9214:Flg2	UTSW	3	93,110,884 (GRCm39)	missense	unknown
R9231:Flg2	UTSW	3	93,109,508 (GRCm39)	missense	unknown
R9553:Flg2	UTSW	3	93,121,901 (GRCm39)	missense	unknown
R9607:Flg2	UTSW	3	93,108,719 (GRCm39)	missense	probably damaging	0.98
R9735:Flg2	UTSW	3	93,127,669 (GRCm39)	missense	unknown
R9752:Flg2	UTSW	3	93,108,467 (GRCm39)	missense	probably damaging	0.98
Z1177:Flg2	UTSW	3	93,110,045 (GRCm39)	missense	unknown
Z1177:Flg2	UTSW	3	93,109,727 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CACAAATGCTAGCTCGTATTAACC -3'
(R):5'- CCCCAGAACTATGTCCATGC -3'

Sequencing Primer
(F):5'- AATGCTAGCTCGTATTAACCTAAAG -3'
(R):5'- ATCTGAAACCTGATTTCTGTCTTGG -3'

Posted On

2019-10-17