Mutagenetix > Incidental Mutation

Incidental Mutation 'R8031:Flg2'

617938

Institutional Source

Beutler Lab

Gene Symbol

Flg2

Ensembl Gene

ENSMUSG00000049133

Gene Name

filaggrin family member 2

Synonyms

EG229574

MMRRC Submission

067469-MU

Accession Numbers

Essential gene?

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

Stock #

R8031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93197278-93221391 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93220214 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 2144 (S2144R)

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: S2144R

SMART Domains

Protein: ENSMUSP00000096482
Gene: ENSMUSG00000049133
AA Change: S2144R

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: 99.0%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,998,098 (GRCm38)		probably null	Het
Arhgdib	A	G	6: 136,924,276 (GRCm38)	Y152H	probably benign	Het
Atxn10	T	G	15: 85,393,393 (GRCm38)	S354A	probably benign	Het
Cacng6	T	C	7: 3,424,885 (GRCm38)	V75A	possibly damaging	Het
Cdc23	A	G	18: 34,651,688 (GRCm38)	V7A	unknown	Het
Cdc40	T	A	10: 40,852,516 (GRCm38)	E157D	probably benign	Het
Defa25	T	A	8: 21,085,237 (GRCm38)	N77K	probably benign	Het
Dsc2	C	T	18: 20,032,274 (GRCm38)	G881R	possibly damaging	Het
Efcab6	T	C	15: 83,983,498 (GRCm38)	K260E	possibly damaging	Het
Eif4a3	T	C	11: 119,288,905 (GRCm38)	Y352C	probably damaging	Het
Erc2	A	T	14: 28,011,692 (GRCm38)	K566N	probably damaging	Het
Fam3b	A	C	16: 97,481,852 (GRCm38)	Y74*	probably null	Het
Fmo4	G	T	1: 162,798,852 (GRCm38)	S375*	probably null	Het
Fsip2	A	G	2: 82,986,891 (GRCm38)	T4323A	probably benign	Het
Gm11639	T	C	11: 104,881,469 (GRCm38)	V2659A	possibly damaging	Het
Gm16503	A	T	4: 147,541,310 (GRCm38)	H87L	unknown	Het
Hes7	C	T	11: 69,122,765 (GRCm38)	A150V	probably damaging	Het
Hk1	T	A	10: 62,296,699 (GRCm38)	N190I	probably benign	Het
Il17rc	A	G	6: 113,482,821 (GRCm38)	D576G	probably damaging	Het
Inhba	T	A	13: 16,026,275 (GRCm38)	S141T	possibly damaging	Het
Itga8	G	T	2: 12,155,486 (GRCm38)	D840E	probably benign	Het
Kazn	T	C	4: 142,154,551 (GRCm38)	E126G		Het
Kcnk13	A	G	12: 99,966,179 (GRCm38)	Y78C	probably damaging	Het
Kcnt1	C	A	2: 25,908,042 (GRCm38)		probably benign	Het
Krt42	G	C	11: 100,265,039 (GRCm38)	R294G	possibly damaging	Het
Myo9a	A	G	9: 59,780,091 (GRCm38)	K160E	probably benign	Het
Nlrp1b	T	C	11: 71,216,921 (GRCm38)	R585G	probably benign	Het
Ntrk2	T	C	13: 58,874,379 (GRCm38)	I416T	probably benign	Het
Olfr1080	G	A	2: 86,554,103 (GRCm38)	T7I	probably damaging	Het
Olfr1217	A	T	2: 89,023,628 (GRCm38)	I125N	probably damaging	Het
Olfr177	T	C	16: 58,872,691 (GRCm38)	N153S	probably benign	Het
Olfr652	T	A	7: 104,565,109 (GRCm38)	I296N	probably damaging	Het
P4ha3	A	G	7: 100,292,698 (GRCm38)	E106G	probably damaging	Het
Pcif1	A	G	2: 164,886,522 (GRCm38)	N233S	probably damaging	Het
Pgm2l1	C	A	7: 100,272,418 (GRCm38)	R619S	probably damaging	Het
Pkhd1l1	A	G	15: 44,512,834 (GRCm38)	Q964R	probably damaging	Het
Pla2g4a	T	A	1: 149,901,213 (GRCm38)	I89F	possibly damaging	Het
Ppp1cc	G	A	5: 122,174,088 (GRCm38)	A306T	probably benign	Het
Psmd4	T	C	3: 95,035,892 (GRCm38)	D67G	probably damaging	Het
Ptprt	G	A	2: 162,135,457 (GRCm38)	T307I	probably damaging	Het
Rnf213	C	A	11: 119,430,281 (GRCm38)	C1188*	probably null	Het
Ror2	C	T	13: 53,113,157 (GRCm38)	C426Y	probably damaging	Het
Sacs	C	T	14: 61,204,191 (GRCm38)	H1229Y	probably damaging	Het
Slc25a25	A	T	2: 32,421,505 (GRCm38)	L118Q	probably damaging	Het
Slc38a6	G	A	12: 73,350,603 (GRCm38)	A340T	probably benign	Het
Smarca5	A	T	8: 80,704,682 (GRCm38)	Y969N	probably damaging	Het
Sorbs1	C	A	19: 40,326,489 (GRCm38)	M626I	probably benign	Het
Spink5	T	A	18: 44,010,236 (GRCm38)	D753E	probably benign	Het
Taf1d	T	G	9: 15,310,399 (GRCm38)	I226S	probably damaging	Het
Tmem225	A	G	9: 40,149,393 (GRCm38)	I83V	possibly damaging	Het
Top2b	A	G	14: 16,412,986 (GRCm38)	D965G	probably damaging	Het
Traf3ip1	A	G	1: 91,501,419 (GRCm38)	K303E	probably damaging	Het
Ube2n	C	T	10: 95,541,382 (GRCm38)	R70C	probably benign	Het
Ubl7	C	T	9: 57,923,206 (GRCm38)	P312S	probably damaging	Het
Vmn1r34	A	T	6: 66,637,181 (GRCm38)	M191K	probably damaging	Het
Vmn2r103	C	T	17: 19,793,497 (GRCm38)	H184Y	probably benign	Het
Vmn2r104	T	C	17: 20,042,786 (GRCm38)	I138V	probably benign	Het
Vmn2r49	T	C	7: 9,986,481 (GRCm38)	E361G	possibly damaging	Het
Vmn2r78	T	C	7: 86,954,867 (GRCm38)	L751P	probably damaging	Het
Zc3h13	T	A	14: 75,330,630 (GRCm38)	I1121N	not run	Het
Zfp235	T	A	7: 24,141,689 (GRCm38)	V511E	probably benign	Het

Other mutations in Flg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Flg2	APN	3	93,202,109 (GRCm38)	nonsense	probably null
IGL00092:Flg2	APN	3	93,219,855 (GRCm38)	missense	possibly damaging	0.90
IGL00985:Flg2	APN	3	93,203,278 (GRCm38)	missense	unknown
IGL01077:Flg2	APN	3	93,220,206 (GRCm38)	missense	unknown
IGL01093:Flg2	APN	3	93,202,371 (GRCm38)	missense	unknown
IGL01120:Flg2	APN	3	93,201,168 (GRCm38)	missense	probably damaging	0.99
IGL01473:Flg2	APN	3	93,203,020 (GRCm38)	missense	unknown
IGL01584:Flg2	APN	3	93,215,470 (GRCm38)	missense	unknown
IGL01584:Flg2	APN	3	93,213,466 (GRCm38)	missense	unknown
IGL01686:Flg2	APN	3	93,202,284 (GRCm38)	missense	unknown
IGL02207:Flg2	APN	3	93,220,128 (GRCm38)	missense	unknown
IGL02294:Flg2	APN	3	93,203,746 (GRCm38)	missense	unknown
IGL02418:Flg2	APN	3	93,201,054 (GRCm38)	missense	probably benign	0.26
IGL02581:Flg2	APN	3	93,219,892 (GRCm38)	missense	unknown
IGL02719:Flg2	APN	3	93,220,131 (GRCm38)	nonsense	probably null
IGL02795:Flg2	APN	3	93,203,613 (GRCm38)	missense	unknown
IGL02893:Flg2	APN	3	93,203,613 (GRCm38)	missense	unknown
IGL02958:Flg2	APN	3	93,203,613 (GRCm38)	missense	unknown
IGL03060:Flg2	APN	3	93,203,613 (GRCm38)	missense	unknown
IGL03088:Flg2	APN	3	93,203,191 (GRCm38)	missense	unknown
IGL03165:Flg2	APN	3	93,214,611 (GRCm38)	missense	unknown
IGL03342:Flg2	APN	3	93,201,235 (GRCm38)	missense	probably damaging	1.00
IGL03352:Flg2	APN	3	93,202,494 (GRCm38)	missense	unknown
IGL02796:Flg2	UTSW	3	93,203,613 (GRCm38)	missense	unknown
IGL02837:Flg2	UTSW	3	93,201,737 (GRCm38)	missense	probably damaging	1.00
PIT4618001:Flg2	UTSW	3	93,203,781 (GRCm38)	missense	unknown
R0087:Flg2	UTSW	3	93,202,431 (GRCm38)	missense	unknown
R0233:Flg2	UTSW	3	93,201,797 (GRCm38)	nonsense	probably null
R0233:Flg2	UTSW	3	93,201,797 (GRCm38)	nonsense	probably null
R0315:Flg2	UTSW	3	93,214,722 (GRCm38)	missense	unknown
R0390:Flg2	UTSW	3	93,200,355 (GRCm38)	splice site	probably benign
R0462:Flg2	UTSW	3	93,201,437 (GRCm38)	missense	probably benign	0.18
R0553:Flg2	UTSW	3	93,203,584 (GRCm38)	missense	unknown
R0828:Flg2	UTSW	3	93,203,332 (GRCm38)	missense	unknown
R1006:Flg2	UTSW	3	93,201,207 (GRCm38)	missense	probably benign	0.41
R1444:Flg2	UTSW	3	93,202,313 (GRCm38)	missense	unknown
R1497:Flg2	UTSW	3	93,219,769 (GRCm38)	missense	unknown
R1518:Flg2	UTSW	3	93,203,138 (GRCm38)	missense	unknown
R1737:Flg2	UTSW	3	93,203,621 (GRCm38)	missense	unknown
R1780:Flg2	UTSW	3	93,202,999 (GRCm38)	missense	unknown
R1797:Flg2	UTSW	3	93,200,976 (GRCm38)	missense	probably damaging	1.00
R2065:Flg2	UTSW	3	93,202,231 (GRCm38)	missense	unknown
R2168:Flg2	UTSW	3	93,201,937 (GRCm38)	missense	probably damaging	1.00
R2220:Flg2	UTSW	3	93,202,185 (GRCm38)	missense	unknown
R2292:Flg2	UTSW	3	93,220,677 (GRCm38)	missense	unknown
R2327:Flg2	UTSW	3	93,203,606 (GRCm38)	nonsense	probably null
R2512:Flg2	UTSW	3	93,201,775 (GRCm38)	missense	probably damaging	1.00
R3177:Flg2	UTSW	3	93,214,888 (GRCm38)	missense	unknown
R3277:Flg2	UTSW	3	93,214,888 (GRCm38)	missense	unknown
R3522:Flg2	UTSW	3	93,220,027 (GRCm38)	missense	unknown
R3779:Flg2	UTSW	3	93,202,423 (GRCm38)	missense	unknown
R3926:Flg2	UTSW	3	93,203,215 (GRCm38)	missense	unknown
R4082:Flg2	UTSW	3	93,203,521 (GRCm38)	missense	unknown
R4407:Flg2	UTSW	3	93,214,869 (GRCm38)	missense	unknown
R5152:Flg2	UTSW	3	93,214,977 (GRCm38)	missense	unknown
R5253:Flg2	UTSW	3	93,200,812 (GRCm38)	missense	probably damaging	1.00
R5290:Flg2	UTSW	3	93,220,566 (GRCm38)	missense	unknown
R5464:Flg2	UTSW	3	93,201,970 (GRCm38)	missense	possibly damaging	0.73
R5539:Flg2	UTSW	3	93,220,446 (GRCm38)	missense	unknown
R5622:Flg2	UTSW	3	93,202,564 (GRCm38)	missense	unknown
R5788:Flg2	UTSW	3	93,200,989 (GRCm38)	missense	probably benign	0.41
R5792:Flg2	UTSW	3	93,203,497 (GRCm38)	missense	unknown
R5831:Flg2	UTSW	3	93,200,234 (GRCm38)	missense	probably damaging	1.00
R5877:Flg2	UTSW	3	93,203,449 (GRCm38)	missense	unknown
R6041:Flg2	UTSW	3	93,220,361 (GRCm38)	missense	probably benign	0.01
R6189:Flg2	UTSW	3	93,220,074 (GRCm38)	missense	unknown
R6214:Flg2	UTSW	3	93,201,859 (GRCm38)	missense	possibly damaging	0.83
R6215:Flg2	UTSW	3	93,201,859 (GRCm38)	missense	possibly damaging	0.83
R6239:Flg2	UTSW	3	93,201,272 (GRCm38)	missense	probably benign	0.36
R6288:Flg2	UTSW	3	93,203,785 (GRCm38)	missense	unknown
R6413:Flg2	UTSW	3	93,220,376 (GRCm38)	missense	unknown
R6457:Flg2	UTSW	3	93,220,482 (GRCm38)	missense	unknown
R6468:Flg2	UTSW	3	93,214,421 (GRCm38)	missense	unknown
R6667:Flg2	UTSW	3	93,201,761 (GRCm38)	missense	possibly damaging	0.88
R6930:Flg2	UTSW	3	93,201,335 (GRCm38)	nonsense	probably null
R6996:Flg2	UTSW	3	93,202,949 (GRCm38)	missense	unknown
R6996:Flg2	UTSW	3	93,202,670 (GRCm38)	missense	unknown
R7100:Flg2	UTSW	3	93,203,711 (GRCm38)	missense	unknown
R7133:Flg2	UTSW	3	93,219,762 (GRCm38)	missense	unknown
R7180:Flg2	UTSW	3	93,202,833 (GRCm38)	missense	unknown
R7325:Flg2	UTSW	3	93,203,372 (GRCm38)	missense	unknown
R7349:Flg2	UTSW	3	93,220,206 (GRCm38)	missense	unknown
R7531:Flg2	UTSW	3	93,200,870 (GRCm38)	missense	probably damaging	0.99
R7571:Flg2	UTSW	3	93,219,996 (GRCm38)	nonsense	probably null
R7684:Flg2	UTSW	3	93,219,649 (GRCm38)	missense	unknown
R7810:Flg2	UTSW	3	93,200,241 (GRCm38)	missense	possibly damaging	0.70
R7853:Flg2	UTSW	3	93,220,747 (GRCm38)	missense	unknown
R8078:Flg2	UTSW	3	93,200,275 (GRCm38)	missense	probably damaging	1.00
R8142:Flg2	UTSW	3	93,215,475 (GRCm38)	nonsense	probably null
R8156:Flg2	UTSW	3	93,220,083 (GRCm38)	missense	unknown
R8172:Flg2	UTSW	3	93,201,161 (GRCm38)	missense	possibly damaging	0.94
R8204:Flg2	UTSW	3	93,202,767 (GRCm38)	missense	unknown
R8262:Flg2	UTSW	3	93,220,210 (GRCm38)	missense	unknown
R8269:Flg2	UTSW	3	93,201,880 (GRCm38)	missense	possibly damaging	0.68
R8290:Flg2	UTSW	3	93,202,762 (GRCm38)	missense	unknown
R8444:Flg2	UTSW	3	93,200,278 (GRCm38)	missense	probably damaging	0.97
R8670:Flg2	UTSW	3	93,201,484 (GRCm38)	missense	probably damaging	0.97
R8755:Flg2	UTSW	3	93,200,813 (GRCm38)	missense	probably damaging	1.00
R9039:Flg2	UTSW	3	93,203,592 (GRCm38)	missense	unknown
R9116:Flg2	UTSW	3	93,202,284 (GRCm38)	missense	unknown
R9214:Flg2	UTSW	3	93,203,577 (GRCm38)	missense	unknown
R9231:Flg2	UTSW	3	93,202,201 (GRCm38)	missense	unknown
R9553:Flg2	UTSW	3	93,214,594 (GRCm38)	missense	unknown
R9607:Flg2	UTSW	3	93,201,412 (GRCm38)	missense	probably damaging	0.98
R9735:Flg2	UTSW	3	93,220,362 (GRCm38)	missense	unknown
R9752:Flg2	UTSW	3	93,201,160 (GRCm38)	missense	probably damaging	0.98
Z1177:Flg2	UTSW	3	93,202,738 (GRCm38)	missense	unknown
Z1177:Flg2	UTSW	3	93,202,420 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCTTTCAGTTCTGCACATAGAGC -3'
(R):5'- GGCTGAATCCAGACTGATTTCC -3'

Sequencing Primer
(F):5'- TCTGCACATAGAGCAACAAATATGG -3'
(R):5'- TCCAGACTGATTTCCAAATGAAGGG -3'

Posted On

2020-01-23