Mutagenetix > Incidental Mutation

Incidental Mutation 'R9018:Mapk13'

686174

Institutional Source

Beutler Lab

Gene Symbol

Mapk13

Ensembl Gene

ENSMUSG00000004864

Gene Name

mitogen-activated protein kinase 13

Synonyms

p38 delta MAP kinase, SAPK4, Serk4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R9018 (G1)

Quality Score

169.009

Status

Validated

Chromosome

Chromosomal Location

28769307-28778698 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28777786 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 276 (R276C)

Ref Sequence

ENSEMBL: ENSMUSP00000004986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004986] [ENSMUST00000129096]

AlphaFold

Q9Z1B7

Predicted Effect

probably benign
Transcript: ENSMUST00000004986
AA Change: R276C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004986
Gene: ENSMUSG00000004864
AA Change: R276C

Domain	Start	End	E-Value	Type
S_TKc	25	308	8.72e-97	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129096
AA Change: T225M

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115659
Gene: ENSMUSG00000004864
AA Change: T225M

Domain	Start	End	E-Value	Type
Pfam:Pkinase	25	209	1.1e-49	PFAM
Pfam:Pkinase_Tyr	27	210	2e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (77/77)

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 mitogen-activated protein (MAP) kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The encoded protein is a p38 MAP kinase and is activated by proinflammatory cytokines and cellular stress. Substrates of the encoded protein include the transcription factor ATF2 and the microtubule dynamics regulator stathmin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit improved glucose tolerance, increased insulin secretion, decreased blood glucose, and decreased susceptibility to diet- or chemically-induced diabetes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 120,289,540	K1236N	probably benign	Het
Abca14	A	G	7: 120,319,309	E1552G	probably damaging	Het
Adam3	A	T	8: 24,694,276	Y569*	probably null	Het
Adgrb2	A	G	4: 130,013,866	T998A	probably benign	Het
Adgre4	T	A	17: 55,791,993	H166Q	probably benign	Het
Ank1	G	A	8: 23,116,248	G1219S	probably null	Het
Ankrd11	A	G	8: 122,895,512	S534P	probably damaging	Het
Atn1	C	T	6: 124,745,698	E805K	unknown	Het
Bsn	T	C	9: 108,117,289	T596A	probably benign	Het
Cacnb4	C	T	2: 52,434,694	R452Q	probably benign	Het
Cdc123	C	A	2: 5,844,872	A13S	probably benign	Het
Chd7	G	A	4: 8,847,083	G1609S	possibly damaging	Het
Cp	T	A	3: 19,989,152	C1035S	probably damaging	Het
Dcaf1	T	A	9: 106,865,637	C1383S	probably damaging	Het
Derl3	G	A	10: 75,893,770	V54I	probably benign	Het
Dgcr6	T	C	16: 18,066,743	L25P	probably damaging	Het
Dmrt2	A	G	19: 25,673,621	E57G	probably benign	Het
Dst	A	G	1: 34,196,059	K3562E	probably damaging	Het
Dyrk2	T	C	10: 118,860,109	T415A	probably damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fbln1	T	C	15: 85,242,014	I484T	probably damaging	Het
Greb1l	T	A	18: 10,542,004	D1250E	possibly damaging	Het
Ift88	A	C	14: 57,438,245	K72Q	probably benign	Het
Impg1	T	A	9: 80,394,192	I228F	probably benign	Het
Itsn2	A	G	12: 4,658,091	N799S	possibly damaging	Het
Jade1	T	A	3: 41,609,857	C521S	probably benign	Het
Katna1	T	G	10: 7,761,276	L397R	probably damaging	Het
Kcnj15	A	C	16: 95,296,270	K250N	probably damaging	Het
Lrrc6	A	T	15: 66,449,630	S221T	probably benign	Het
Macc1	A	G	12: 119,446,206	I236M	possibly damaging	Het
Mier2	G	A	10: 79,548,440	R166W	probably damaging	Het
Mindy4	C	T	6: 55,301,087	H639Y	possibly damaging	Het
Mphosph9	A	G	5: 124,298,650	S544P	probably benign	Het
Muc4	T	C	16: 32,762,536	Y492H		Het
Mybbp1a	C	T	11: 72,443,594	T225I	probably benign	Het
Myo6	A	T	9: 80,251,804	K285I	unknown	Het
Nmd3	G	A	3: 69,739,995	V277I	probably benign	Het
Nol9	G	C	4: 152,039,461	R36P	probably damaging	Het
Nom1	A	G	5: 29,434,714	R13G	possibly damaging	Het
Nudt14	G	A	12: 112,939,286	H40Y	probably damaging	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Olfr1375	G	A	11: 51,048,111	M1I	probably null	Het
Olfr1474	A	T	19: 13,471,357	H87L	possibly damaging	Het
Olfr933	T	A	9: 38,976,391	F238L	probably benign	Het
Pcnx4	T	A	12: 72,556,663	F492I	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 172,128,583		probably null	Het
Pgghg	A	G	7: 140,944,666	I309V	probably benign	Het
Phf12	C	T	11: 78,023,684	P651S	possibly damaging	Het
Pltp	A	G	2: 164,852,490	L199P	probably damaging	Het
Pole	T	A	5: 110,289,809	L78I	probably benign	Het
Ppm1d	C	A	11: 85,337,135	H292Q	probably damaging	Het
Ppp2cb	A	C	8: 33,615,759	I224L	probably benign	Het
Rabggta	A	T	14: 55,720,423	I171N	probably damaging	Het
Rapgef5	A	G	12: 117,748,397	I740V	probably damaging	Het
Rb1cc1	G	A	1: 6,249,266	E970K	probably benign	Het
Rnh1	A	T	7: 141,168,631	V11D	probably benign	Het
Robo4	C	T	9: 37,404,224	T288I	probably benign	Het
Scmh1	A	G	4: 120,505,317	D250G	probably benign	Het
Sele	T	A	1: 164,053,679	C483S	probably damaging	Het
Slc12a6	A	G	2: 112,344,240		probably benign	Het
Slc5a4a	A	G	10: 76,166,712	E234G	possibly damaging	Het
Smarca5	A	G	8: 80,704,726	L954P	probably damaging	Het
St7	T	A	6: 17,906,495	N413K	probably damaging	Het
Stam2	C	T	2: 52,716,451	V141I	probably benign	Het
Stim1	C	T	7: 102,411,275	T175I	probably benign	Het
Strap	A	G	6: 137,739,813	N130S	probably benign	Het
Stxbp2	A	G	8: 3,642,627		probably benign	Het
Sult3a2	T	A	10: 33,779,693	I97F	probably benign	Het
Tbc1d32	A	T	10: 56,072,597	N965K	probably benign	Het
Tle3	T	A	9: 61,412,468	I506N	probably damaging	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tvp23a	A	G	16: 10,446,982	S22P	probably damaging	Het
Vmn2r82	A	G	10: 79,396,705	N846S	probably damaging	Het
Vmn2r83	A	G	10: 79,480,186	N472S	probably damaging	Het
Xpo7	G	A	14: 70,707,424	Q10*	probably null	Het
Zfp423	G	C	8: 87,781,753	S654R	probably benign	Het
Zfp646	A	T	7: 127,879,071	H140L	probably benign	Het
Zfp719	C	A	7: 43,584,065		probably benign	Het

Other mutations in Mapk13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Mapk13	APN	17	28776405	missense	probably damaging	1.00
IGL01918:Mapk13	APN	17	28775330	missense	probably damaging	1.00
IGL02265:Mapk13	APN	17	28777718	splice site	probably benign
IGL02451:Mapk13	APN	17	28776413	missense	probably damaging	1.00
IGL02977:Mapk13	APN	17	28776348	missense	probably damaging	1.00
IGL03118:Mapk13	APN	17	28777735	missense	probably benign	0.14
IGL03188:Mapk13	APN	17	28776583	intron	probably benign
R0501:Mapk13	UTSW	17	28776353	missense	probably damaging	1.00
R0538:Mapk13	UTSW	17	28775255	missense	probably damaging	1.00
R2240:Mapk13	UTSW	17	28778111	missense	probably damaging	0.98
R4368:Mapk13	UTSW	17	28777565	splice site	probably null
R4613:Mapk13	UTSW	17	28769452	missense	probably damaging	1.00
R4649:Mapk13	UTSW	17	28778487	nonsense	probably null
R4684:Mapk13	UTSW	17	28770049	missense	probably damaging	1.00
R4796:Mapk13	UTSW	17	28775554	missense	probably damaging	1.00
R4863:Mapk13	UTSW	17	28776310	missense	probably damaging	1.00
R4923:Mapk13	UTSW	17	28778223	missense	probably benign
R5220:Mapk13	UTSW	17	28778491	missense	probably benign	0.00
R5247:Mapk13	UTSW	17	28777751	missense	probably benign	0.01
R5370:Mapk13	UTSW	17	28776352	nonsense	probably null
R6838:Mapk13	UTSW	17	28777561	splice site	probably null
R6843:Mapk13	UTSW	17	28775453	splice site	probably null
R7187:Mapk13	UTSW	17	28776387	missense	probably damaging	1.00
R9227:Mapk13	UTSW	17	28775558	missense	probably damaging	1.00
R9230:Mapk13	UTSW	17	28775558	missense	probably damaging	1.00
R9241:Mapk13	UTSW	17	28771213	missense	probably damaging	0.99
R9249:Mapk13	UTSW	17	28769516	missense	probably damaging	1.00
R9274:Mapk13	UTSW	17	28769516	missense	probably damaging	1.00
R9777:Mapk13	UTSW	17	28778101	missense	probably damaging	1.00
Z1088:Mapk13	UTSW	17	28777533	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- TGACTGGCACCTTCTTATGGG -3'
(R):5'- CATCTTGTCGAGCAGGTCTG -3'

Sequencing Primer
(F):5'- GGCACCTTCTTATGGGCTCCC -3'
(R):5'- ACATGGTGAGCCTTGCAC -3'

Posted On

2021-10-11