Mutagenetix > Incidental Mutation

Incidental Mutation 'R9106:Mapkapk3'

692027

Institutional Source

Beutler Lab

Gene Symbol

Mapkapk3

Ensembl Gene

ENSMUSG00000032577

Gene Name

mitogen-activated protein kinase-activated protein kinase 3

Synonyms

MK3

MMRRC Submission

068970-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9106 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107132126-107167076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107136067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 219 (E219V)

Ref Sequence

ENSEMBL: ENSMUSP00000035194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035194] [ENSMUST00000134682] [ENSMUST00000192054]

AlphaFold

Q3UMW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000035194
AA Change: E219V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035194
Gene: ENSMUSG00000032577
AA Change: E219V

Domain	Start	End	E-Value	Type
low complexity region	10	32	N/A	INTRINSIC
S_TKc	45	306	4.97e-92	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134682

SMART Domains

Protein: ENSMUSP00000120848
Gene: ENSMUSG00000032577

Domain	Start	End	E-Value	Type
low complexity region	35	47	N/A	INTRINSIC
low complexity region	69	83	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192054
AA Change: E219V

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141342
Gene: ENSMUSG00000032577
AA Change: E219V

Domain	Start	End	E-Value	Type
low complexity region	10	32	N/A	INTRINSIC
Pfam:Pkinase	46	264	6.3e-48	PFAM
Pfam:Pkinase_Tyr	47	259	1.1e-27	PFAM
Pfam:Kdo	80	202	1.1e-8	PFAM

Meta Mutation Damage Score

0.1788

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and display normal tissue morphology, behavior, and LPS-induced production of cytokines. Eyes of homozygous null mice show defects in Bruch's membrane, with disorganized architecture and variability in thickness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	C	A	1: 179,614,601 (GRCm39)	K394N	probably benign	Het
Banp	A	T	8: 122,705,372 (GRCm39)	T81S	possibly damaging	Het
Btn2a2	T	C	13: 23,662,465 (GRCm39)	E495G	probably benign	Het
Cfap69	T	C	5: 5,690,190 (GRCm39)	I158M	possibly damaging	Het
Cgnl1	C	A	9: 71,628,873 (GRCm39)		probably benign	Het
Clip1	T	A	5: 123,753,223 (GRCm39)	Q186L	probably damaging	Het
Clspn	G	A	4: 126,471,243 (GRCm39)		probably benign	Het
Cnst	A	G	1: 179,432,162 (GRCm39)	E224G	probably damaging	Het
Ctdsp1	T	C	1: 74,433,884 (GRCm39)	L155P	probably damaging	Het
D5Ertd579e	C	T	5: 36,773,682 (GRCm39)	A238T	probably benign	Het
Dnah6	T	C	6: 73,121,752 (GRCm39)	Y1410C	probably damaging	Het
Fam186a	AGCCGCTGCCGCTGCCGCTGCCGC	AGCCGCTGCCGCTGCCGC	15: 99,844,107 (GRCm39)		probably benign	Het
Farp2	T	C	1: 93,488,910 (GRCm39)		probably null	Het
Galnt7	T	G	8: 57,985,729 (GRCm39)	D547A	probably damaging	Het
Gm1527	C	A	3: 28,956,440 (GRCm39)	D135E	probably damaging	Het
Grm5	T	C	7: 87,723,747 (GRCm39)	I679T	probably damaging	Het
Hectd4	C	A	5: 121,467,619 (GRCm39)	R2523S	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Htr1f	A	T	16: 64,746,637 (GRCm39)	S218R	probably damaging	Het
Lrit1	G	A	14: 36,776,891 (GRCm39)	A4T	unknown	Het
Ly6f	G	T	15: 75,141,706 (GRCm39)	D50Y	probably damaging	Het
Mafg	GGTTCTTCAGTGT	GGT	11: 120,520,415 (GRCm39)		probably null	Het
Map2	T	A	1: 66,454,522 (GRCm39)	Y1137*	probably null	Het
Map4k3	C	A	17: 81,035,257 (GRCm39)	R21L	possibly damaging	Het
Mapk10	A	T	5: 103,186,442 (GRCm39)	V90D	probably damaging	Het
Mideas	T	C	12: 84,199,327 (GRCm39)	Y1040C	probably damaging	Het
Mos	T	G	4: 3,871,457 (GRCm39)	I120L	probably benign	Het
Mrgprb4	A	G	7: 47,848,679 (GRCm39)	V83A	probably benign	Het
Mrnip	A	G	11: 50,065,768 (GRCm39)	Q19R	probably damaging	Het
Myrip	T	C	9: 120,261,544 (GRCm39)	S386P	probably benign	Het
Mzt2	A	G	16: 15,666,568 (GRCm39)	W141R	probably benign	Het
Ncam1	A	G	9: 49,428,856 (GRCm39)	Y710H	probably damaging	Het
Nlrp9c	G	T	7: 26,081,837 (GRCm39)	L630I	probably benign	Het
Odad2	A	T	18: 7,294,527 (GRCm39)	S29T	probably benign	Het
Oplah	C	A	15: 76,189,876 (GRCm39)	G150C	probably benign	Het
Or4c11b	A	G	2: 88,625,016 (GRCm39)	T97A	probably benign	Het
Or51q1	A	T	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or52a20	G	A	7: 103,366,737 (GRCm39)	C312Y	probably benign	Het
Or6k2	A	G	1: 173,986,369 (GRCm39)	Q10R	probably benign	Het
Patl1	A	G	19: 11,908,973 (GRCm39)	K460R	probably damaging	Het
Pdgfrb	A	T	18: 61,179,100 (GRCm39)		probably null	Het
Phldb2	T	C	16: 45,680,757 (GRCm39)	I17V	probably benign	Het
Ppp3r1	A	G	11: 17,144,789 (GRCm39)	D134G	probably damaging	Het
Ppp4r4	C	T	12: 103,570,315 (GRCm39)	T763I	probably benign	Het
Prmt9	A	G	8: 78,276,358 (GRCm39)	D61G	probably benign	Het
Ptk2	T	C	15: 73,131,457 (GRCm39)	M589V	possibly damaging	Het
Rabl6	A	G	2: 25,486,446 (GRCm39)	W153R	probably benign	Het
Rb1cc1	A	G	1: 6,319,109 (GRCm39)	I843V		Het
Resf1	T	C	6: 149,230,368 (GRCm39)	V1138A	possibly damaging	Het
Rnf19b	A	G	4: 128,977,940 (GRCm39)	E719G		Het
Sart3	T	C	5: 113,892,410 (GRCm39)	D363G	possibly damaging	Het
Sgo2a	C	A	1: 58,037,283 (GRCm39)	D9E	possibly damaging	Het
Slc27a5	A	G	7: 12,725,097 (GRCm39)	V450A	probably benign	Het
Slc8b1	T	A	5: 120,668,416 (GRCm39)	Y483N	probably damaging	Het
Slco1b2	A	G	6: 141,617,974 (GRCm39)	T475A	probably damaging	Het
Slfn3	T	C	11: 83,103,458 (GRCm39)	F110L	probably benign	Het
Spata31e5	T	C	1: 28,815,975 (GRCm39)	I686V	probably benign	Het
Ssr2	T	A	3: 88,495,269 (GRCm39)	Y175N	probably damaging	Het
Tagap	A	T	17: 8,150,280 (GRCm39)	N222Y	probably damaging	Het
Tecta	C	T	9: 42,278,479 (GRCm39)	V1010M	probably benign	Het
Trim36	A	T	18: 46,300,664 (GRCm39)	I669N	possibly damaging	Het
Ubp1	A	G	9: 113,799,319 (GRCm39)	T425A	probably benign	Het
Usp47	T	C	7: 111,681,713 (GRCm39)	I508T	probably damaging	Het
Vit	G	A	17: 78,934,278 (GRCm39)	D627N	probably damaging	Het
Vmn2r59	A	T	7: 41,695,884 (GRCm39)	I176N	probably benign	Het

Other mutations in Mapkapk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02043:Mapkapk3	APN	9	107,139,621 (GRCm39)	critical splice donor site	probably null
IGL02486:Mapkapk3	APN	9	107,166,467 (GRCm39)	missense	probably damaging	1.00
IGL02971:Mapkapk3	APN	9	107,134,279 (GRCm39)	missense	probably benign	0.00
R1523:Mapkapk3	UTSW	9	107,140,822 (GRCm39)	critical splice donor site	probably null
R4106:Mapkapk3	UTSW	9	107,134,265 (GRCm39)	missense	probably damaging	0.99
R4290:Mapkapk3	UTSW	9	107,136,131 (GRCm39)	intron	probably benign
R4291:Mapkapk3	UTSW	9	107,136,131 (GRCm39)	intron	probably benign
R4293:Mapkapk3	UTSW	9	107,136,131 (GRCm39)	intron	probably benign
R4294:Mapkapk3	UTSW	9	107,136,131 (GRCm39)	intron	probably benign
R4299:Mapkapk3	UTSW	9	107,134,648 (GRCm39)	missense	probably damaging	1.00
R5433:Mapkapk3	UTSW	9	107,133,491 (GRCm39)	missense	probably damaging	0.96
R5936:Mapkapk3	UTSW	9	107,166,369 (GRCm39)	missense	probably damaging	0.96
R6029:Mapkapk3	UTSW	9	107,166,425 (GRCm39)	missense	possibly damaging	0.86
R6228:Mapkapk3	UTSW	9	107,137,262 (GRCm39)	missense	probably damaging	1.00
R6520:Mapkapk3	UTSW	9	107,134,648 (GRCm39)	missense	probably damaging	1.00
R7011:Mapkapk3	UTSW	9	107,166,595 (GRCm39)	unclassified	probably benign
R7352:Mapkapk3	UTSW	9	107,134,269 (GRCm39)	missense	possibly damaging	0.83
R9227:Mapkapk3	UTSW	9	107,137,354 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAAGGCCTGTATCTAACAACAC -3'
(R):5'- ACATGCTGCCTTCCCAGAAG -3'

Sequencing Primer
(F):5'- TGGCCAAGGGATGACTCG -3'
(R):5'- TTCCCAGAAGGTGCCAGAC -3'

Posted On

2021-12-30