Mutagenetix > Incidental Mutation

Incidental Mutation 'R8145:Fosl2'

632736

Institutional Source

Beutler Lab

Gene Symbol

Fosl2

Ensembl Gene

ENSMUSG00000029135

Gene Name

fos-like antigen 2

Synonyms

Fra-2

MMRRC Submission

067573-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8145 (G1)

Quality Score

150.008

Status

Validated

Chromosome

Chromosomal Location

32293145-32315186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32310412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 287 (V287D)

Ref Sequence

ENSEMBL: ENSMUSP00000031017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031017]

AlphaFold

P47930

Predicted Effect

probably damaging
Transcript: ENSMUST00000031017
AA Change: V287D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031017
Gene: ENSMUSG00000029135
AA Change: V287D

Domain	Start	End	E-Value	Type
BRLZ	122	186	9.34e-15	SMART
low complexity region	224	234	N/A	INTRINSIC
low complexity region	291	320	N/A	INTRINSIC

Coding Region Coverage

1x: 99.7%
3x: 99.5%
10x: 97.9%
20x: 90.4%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene die within one week after birth and show postnatal growth retardation. Further analysis of one allele showed abnormal cartilage development, with delayed bone ossification and impaired chondrocyte differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg6	A	T	4: 99,634,564 (GRCm39)	D273V	probably damaging	Het
Ankk1	T	A	9: 49,327,097 (GRCm39)	H694L	possibly damaging	Het
Asb7	G	T	7: 66,309,696 (GRCm39)	N173K	probably benign	Het
Atp10b	A	T	11: 43,092,949 (GRCm39)	Q428L	probably damaging	Het
Bag3	A	G	7: 128,147,612 (GRCm39)	E409G	possibly damaging	Het
Bltp1	T	C	3: 37,052,416 (GRCm39)	S3039P	probably damaging	Het
Bpifb2	T	A	2: 153,733,232 (GRCm39)	V398E	probably damaging	Het
Btf3l4b	A	T	13: 96,217,649 (GRCm39)	D63E	probably benign	Het
Ccr6	T	C	17: 8,474,945 (GRCm39)	V50A	probably benign	Het
Cdcp3	G	T	7: 130,898,045 (GRCm39)	V2088L	unknown	Het
Cdx1	T	C	18: 61,152,995 (GRCm39)	N204D	probably damaging	Het
Ciao1	T	C	2: 127,087,726 (GRCm39)	D203G	possibly damaging	Het
Cldn7	A	T	11: 69,856,892 (GRCm39)	Y47F	possibly damaging	Het
Col6a1	A	T	10: 76,559,305 (GRCm39)	D110E	possibly damaging	Het
Cpne6	C	A	14: 55,752,025 (GRCm39)	Q261K	probably benign	Het
Crebbp	T	C	16: 3,946,389 (GRCm39)	T497A	probably benign	Het
Cyp2s1	A	G	7: 25,507,467 (GRCm39)		probably null	Het
Ddx42	A	T	11: 106,130,887 (GRCm39)	I454F	possibly damaging	Het
Ddx5	G	T	11: 106,672,911 (GRCm39)	A538E	probably benign	Het
Dnajb1	T	A	8: 84,336,944 (GRCm39)	V238D	probably damaging	Het
Dntt	A	G	19: 41,044,224 (GRCm39)	Y463C	probably damaging	Het
Eif4b	A	G	15: 102,001,423 (GRCm39)	T437A	unknown	Het
Eppk1	T	C	15: 75,990,900 (GRCm39)	T1994A	possibly damaging	Het
Fbxw15	A	T	9: 109,384,658 (GRCm39)	C381S	probably benign	Het
Gdpd4	A	G	7: 97,690,077 (GRCm39)	T590A	probably benign	Het
Gm49368	A	G	7: 127,712,487 (GRCm39)	E877G	probably null	Het
Grin2b	C	T	6: 135,709,497 (GRCm39)	A1350T	probably benign	Het
Gzmk	A	G	13: 113,308,430 (GRCm39)	L257P	probably damaging	Het
Has2	T	A	15: 56,545,175 (GRCm39)	K142N	probably benign	Het
Hectd1	T	C	12: 51,831,016 (GRCm39)	E944G	possibly damaging	Het
Hmcn1	T	C	1: 150,629,411 (GRCm39)	R949G	probably benign	Het
Hmcn2	A	G	2: 31,313,117 (GRCm39)	E3442G	probably damaging	Het
Irf9	T	A	14: 55,843,255 (GRCm39)	C152*	probably null	Het
Itga3	A	G	11: 94,943,290 (GRCm39)	W936R	probably damaging	Het
Klhl11	G	T	11: 100,354,740 (GRCm39)	D360E	probably damaging	Het
Lnx1	G	A	5: 74,846,060 (GRCm39)	T130I	probably benign	Het
Lrrc36	C	T	8: 106,170,396 (GRCm39)	P82L	probably damaging	Het
Map4k4	T	C	1: 40,039,694 (GRCm39)	C29R		Het
Mki67	T	C	7: 135,296,065 (GRCm39)	K2990E	probably benign	Het
Mnt	G	A	11: 74,733,799 (GRCm39)	A477T	unknown	Het
Mroh9	A	G	1: 162,890,096 (GRCm39)	S214P	probably benign	Het
Mrps18b	C	A	17: 36,225,293 (GRCm39)	R94L	possibly damaging	Het
Myh6	T	A	14: 55,191,382 (GRCm39)	I820F	probably benign	Het
Nphp3	A	G	9: 103,913,050 (GRCm39)	T943A	probably benign	Het
Or51a25	C	A	7: 102,372,937 (GRCm39)	L253F	probably damaging	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Papolb	T	C	5: 142,514,353 (GRCm39)	D430G	probably benign	Het
Pdzd2	T	C	15: 12,407,458 (GRCm39)	H334R	probably benign	Het
Pkd1l2	T	A	8: 117,781,742 (GRCm39)	M768L	probably benign	Het
Pklr	G	T	3: 89,052,795 (GRCm39)	R547L	probably benign	Het
Pla2g4a	T	C	1: 149,716,394 (GRCm39)	Y697C	probably benign	Het
Prkcd	T	C	14: 30,324,019 (GRCm39)	T435A	probably benign	Het
Rfx1	C	T	8: 84,800,657 (GRCm39)	P86L	probably benign	Het
Rnf19b	C	A	4: 128,977,862 (GRCm39)	A693D	probably benign	Het
Scn9a	A	G	2: 66,317,754 (GRCm39)	I1578T	probably damaging	Het
Slamf9	A	G	1: 172,303,942 (GRCm39)	S96G	probably benign	Het
Slc17a8	T	C	10: 89,412,233 (GRCm39)	D584G	probably benign	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc2a7	C	A	4: 150,252,818 (GRCm39)	T486K	probably damaging	Het
Slc6a20a	G	A	9: 123,466,065 (GRCm39)	A592V	probably damaging	Het
Spz1	T	C	13: 92,711,609 (GRCm39)	D289G	probably benign	Het
Sspo	G	A	6: 48,444,683 (GRCm39)	C2226Y	possibly damaging	Het
Taf4b	T	G	18: 14,963,085 (GRCm39)	D608E	probably damaging	Het
Tagap1	A	T	17: 7,223,526 (GRCm39)	I390N	probably damaging	Het
Tcp11l2	A	G	10: 84,444,480 (GRCm39)	N430D	probably damaging	Het
Thsd7b	T	C	1: 129,688,036 (GRCm39)	L649P	probably damaging	Het
Tmprss15	C	T	16: 78,757,473 (GRCm39)	G956R	probably damaging	Het
Tnc	G	T	4: 63,935,716 (GRCm39)	Q407K	probably benign	Het
Tti1	C	A	2: 157,849,509 (GRCm39)	E577*	probably null	Het
Vmn2r79	A	T	7: 86,686,862 (GRCm39)	M748L	probably benign	Het
Zbtb37	C	T	1: 160,847,654 (GRCm39)	R451Q	probably damaging	Het
Zfp1002	T	C	2: 150,096,455 (GRCm39)	K325E	probably benign	Het
Zfp566	A	T	7: 29,777,785 (GRCm39)	I132N	probably benign	Het
Zik1	C	T	7: 10,223,930 (GRCm39)	G389E	probably damaging	Het
Zzef1	A	T	11: 72,799,295 (GRCm39)	K2382*	probably null	Het

Other mutations in Fosl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02258:Fosl2	APN	5	32,304,259 (GRCm39)	missense	probably damaging	1.00
R1275:Fosl2	UTSW	5	32,307,798 (GRCm39)	missense	probably damaging	1.00
R1438:Fosl2	UTSW	5	32,304,329 (GRCm39)	missense	probably damaging	1.00
R5982:Fosl2	UTSW	5	32,304,217 (GRCm39)	missense	probably benign	0.02
R6882:Fosl2	UTSW	5	32,310,208 (GRCm39)	missense	possibly damaging	0.93
R7423:Fosl2	UTSW	5	32,307,807 (GRCm39)	missense	probably damaging	1.00
R9140:Fosl2	UTSW	5	32,310,042 (GRCm39)	missense	probably damaging	0.99
R9340:Fosl2	UTSW	5	32,304,379 (GRCm39)	missense	probably benign
Z1177:Fosl2	UTSW	5	32,310,277 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTGCAAAATCAGCCCCGAG -3'
(R):5'- TTAAAGGTGCTGGTCCCTGG -3'

Sequencing Primer
(F):5'- TGGTGAAGCAGGAGCCTC -3'
(R):5'- TGCTGGTCCCTGGGAAGG -3'

Posted On

2020-06-30