Mutagenetix > Incidental Mutation

Incidental Mutation 'R1673:Mapk6'

187821

Institutional Source

Beutler Lab

Gene Symbol

Mapk6

Ensembl Gene

ENSMUSG00000042688

Gene Name

mitogen-activated protein kinase 6

Synonyms

Mapk4, D130053K17Rik, ERK3, Prkm6, Mapk63, Prkm4, Erk3, 2610021I23Rik

MMRRC Submission

039709-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R1673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75369062-75410005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75395569 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 214 (D214G)

Ref Sequence

ENSEMBL: ENSMUSP00000129024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049355] [ENSMUST00000168937]

AlphaFold

Q61532

Predicted Effect

probably damaging
Transcript: ENSMUST00000049355
AA Change: D214G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040315
Gene: ENSMUSG00000042688
AA Change: D214G

Domain	Start	End	E-Value	Type
S_TKc	20	316	8.02e-87	SMART
low complexity region	647	670	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168937
AA Change: D214G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129024
Gene: ENSMUSG00000042688
AA Change: D214G

Domain	Start	End	E-Value	Type
S_TKc	20	316	8.02e-87	SMART
low complexity region	647	670	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174034

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show limited fetal growth, reduced serum IGF2 levels, pulmonary hypoplasia and early neonatal death. About 40% of newborns die of acute respiratory failure exhibiting delayed lung maturation, reduced sacculation, atelectasis, and impaired type II pneumocyte differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,212,339 (GRCm38)	S809G	probably benign	Het
Ap4b1	T	A	3: 103,817,845 (GRCm38)		probably null	Het
Aqp12	A	G	1: 93,006,884 (GRCm38)	Q161R	possibly damaging	Het
Atp8a2	A	G	14: 59,791,240 (GRCm38)	I926T	probably benign	Het
Cacna2d1	A	T	5: 16,299,990 (GRCm38)	N314I	probably damaging	Het
Cd209d	A	G	8: 3,877,113 (GRCm38)	S81P	probably damaging	Het
Cdcp1	T	A	9: 123,178,021 (GRCm38)	K554*	probably null	Het
Celsr1	A	G	15: 85,932,457 (GRCm38)	Y1762H	probably benign	Het
Cklf	A	G	8: 104,257,351 (GRCm38)	T49A	possibly damaging	Het
Col12a1	T	G	9: 79,693,538 (GRCm38)	I755L	probably benign	Het
Cts3	G	A	13: 61,567,554 (GRCm38)	Q140*	probably null	Het
Ddx1	A	T	12: 13,244,966 (GRCm38)		probably null	Het
Dnah3	C	A	7: 119,971,179 (GRCm38)	E2262*	probably null	Het
Dnah5	A	G	15: 28,290,148 (GRCm38)	N1228S	probably benign	Het
Dsg1a	G	A	18: 20,331,504 (GRCm38)	R352Q	probably damaging	Het
Efcab5	A	G	11: 77,151,853 (GRCm38)	F25L	probably damaging	Het
Efhd1	T	A	1: 87,264,682 (GRCm38)	V78D	probably damaging	Het
Eif5a2	T	C	3: 28,793,818 (GRCm38)		probably null	Het
Elp2	T	A	18: 24,611,926 (GRCm38)	V101D	possibly damaging	Het
Enpp2	A	T	15: 54,910,196 (GRCm38)		probably null	Het
F5	A	G	1: 164,179,520 (GRCm38)	T298A	probably damaging	Het
Fam208b	A	G	13: 3,584,498 (GRCm38)		probably null	Het
Fbxo21	G	T	5: 118,008,064 (GRCm38)	R584L	probably benign	Het
Fbxw22	G	T	9: 109,382,128 (GRCm38)	F368L	possibly damaging	Het
Gcn1l1	T	C	5: 115,582,297 (GRCm38)	I409T	probably benign	Het
Gm10260	A	T	13: 97,760,360 (GRCm38)	Y77N	possibly damaging	Het
Gm12887	T	C	4: 121,616,458 (GRCm38)	Y65C	probably damaging	Het
Gria4	G	A	9: 4,537,637 (GRCm38)	Q224*	probably null	Het
Hdac5	C	T	11: 102,198,805 (GRCm38)	V860M	probably damaging	Het
Ino80	G	A	2: 119,381,936 (GRCm38)	R1302C	probably damaging	Het
Kcns2	A	T	15: 34,838,820 (GRCm38)	I110F	probably damaging	Het
Lrig3	A	G	10: 126,010,167 (GRCm38)	T822A	probably damaging	Het
Mcm2	A	T	6: 88,892,078 (GRCm38)	L264Q	probably benign	Het
Mpnd	A	T	17: 56,010,455 (GRCm38)	Y64F	probably damaging	Het
Muc1	T	A	3: 89,231,772 (GRCm38)	M520K	possibly damaging	Het
Muc4	T	A	16: 32,756,902 (GRCm38)	S189T	probably benign	Het
Myh13	T	C	11: 67,352,119 (GRCm38)	S953P	possibly damaging	Het
Ncf2	A	T	1: 152,830,479 (GRCm38)	M281L	probably benign	Het
Nipal2	A	G	15: 34,648,695 (GRCm38)	I116T	probably damaging	Het
Nptn	T	C	9: 58,623,732 (GRCm38)	L46P	probably benign	Het
Olfr11	A	T	13: 21,639,044 (GRCm38)	S160T	probably damaging	Het
Olfr1283	A	G	2: 111,369,207 (GRCm38)	T192A	probably benign	Het
Olfr290	T	A	7: 84,916,117 (GRCm38)	F113I	probably damaging	Het
Olfr610	C	A	7: 103,506,689 (GRCm38)	V86F	probably damaging	Het
Pgr	A	T	9: 8,902,068 (GRCm38)	Y534F	possibly damaging	Het
Pip4k2a	A	T	2: 18,872,282 (GRCm38)		probably null	Het
Pkd1l2	C	G	8: 117,040,775 (GRCm38)	V1259L	probably benign	Het
Ppp1r12a	A	G	10: 108,249,565 (GRCm38)	E457G	probably damaging	Het
Rasa4	T	A	5: 136,104,637 (GRCm38)	V650D	probably benign	Het
Rem2	C	T	14: 54,476,309 (GRCm38)		probably benign	Het
Sdc1	G	A	12: 8,790,409 (GRCm38)	R62Q	possibly damaging	Het
Sdk1	A	G	5: 141,948,506 (GRCm38)	E366G	possibly damaging	Het
Setd2	T	A	9: 110,604,180 (GRCm38)	H2406Q	probably damaging	Het
Slc30a5	A	G	13: 100,813,383 (GRCm38)	V397A	probably benign	Het
Slc36a2	A	T	11: 55,184,913 (GRCm38)	L16H	possibly damaging	Het
Slc44a1	T	C	4: 53,542,468 (GRCm38)	V334A	probably benign	Het
Sox8	A	T	17: 25,567,482 (GRCm38)	Y416N	possibly damaging	Het
Speg	T	C	1: 75,411,163 (GRCm38)	V1416A	possibly damaging	Het
Stk24	T	A	14: 121,337,571 (GRCm38)	I42F	probably damaging	Het
Tcerg1	T	A	18: 42,552,581 (GRCm38)	L661Q	possibly damaging	Het
Tmem110	T	C	14: 30,864,434 (GRCm38)	L72S	possibly damaging	Het
Tpp1	G	A	7: 105,747,673 (GRCm38)	R417W	probably damaging	Het
Trim12a	T	A	7: 104,306,057 (GRCm38)	D153V	possibly damaging	Het
Trpm2	T	C	10: 77,942,944 (GRCm38)	N396S	probably benign	Het
Ttn	G	A	2: 76,810,287 (GRCm38)	R11960C	probably damaging	Het
Ttn	T	C	2: 76,807,083 (GRCm38)	K5695R	probably damaging	Het
Tulp3	A	C	6: 128,333,943 (GRCm38)		probably null	Het
Uaca	T	A	9: 60,872,156 (GRCm38)	L1273H	probably damaging	Het
Usp33	A	G	3: 152,368,282 (GRCm38)	E255G	probably damaging	Het
Vmn2r54	T	G	7: 12,616,211 (GRCm38)		probably null	Het
Vwa8	C	T	14: 78,908,230 (GRCm38)	R116C	probably damaging	Het
Wnt5b	A	T	6: 119,446,354 (GRCm38)	F116L	probably benign	Het
Zbtb12	CTTCAT	CTTCATTCAT	17: 34,896,308 (GRCm38)		probably null	Het
Zbtb12	TCATC	TCATCCATC	17: 34,896,310 (GRCm38)		probably null	Het
Zfp408	G	A	2: 91,646,008 (GRCm38)	T367I	probably damaging	Het
Zfp512b	G	A	2: 181,588,493 (GRCm38)	A480V	possibly damaging	Het
Zfp560	T	C	9: 20,347,653 (GRCm38)	T638A	probably benign	Het
Zfp932	G	T	5: 110,008,988 (GRCm38)	G151V	probably damaging	Het
Zpbp	T	C	11: 11,352,696 (GRCm38)	K320E	probably damaging	Het
Zranb2	C	T	3: 157,537,640 (GRCm38)	P91L	probably damaging	Het

Other mutations in Mapk6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Mapk6	APN	9	75,388,790 (GRCm38)	missense	possibly damaging	0.79
IGL01843:Mapk6	APN	9	75,390,290 (GRCm38)	missense	probably damaging	1.00
IGL03060:Mapk6	APN	9	75,397,802 (GRCm38)	missense	probably damaging	0.98
PIT4651001:Mapk6	UTSW	9	75,397,587 (GRCm38)	missense	possibly damaging	0.90
R0056:Mapk6	UTSW	9	75,388,816 (GRCm38)	missense	possibly damaging	0.66
R0056:Mapk6	UTSW	9	75,388,816 (GRCm38)	missense	possibly damaging	0.66
R0659:Mapk6	UTSW	9	75,397,962 (GRCm38)	missense	probably damaging	0.99
R3419:Mapk6	UTSW	9	75,397,757 (GRCm38)	missense	probably damaging	1.00
R4798:Mapk6	UTSW	9	75,388,432 (GRCm38)	missense	probably benign
R5117:Mapk6	UTSW	9	75,397,735 (GRCm38)	missense	possibly damaging	0.56
R5190:Mapk6	UTSW	9	75,388,344 (GRCm38)	missense	probably damaging	1.00
R5521:Mapk6	UTSW	9	75,393,316 (GRCm38)	intron	probably benign
R5579:Mapk6	UTSW	9	75,388,062 (GRCm38)	missense	possibly damaging	0.63
R6792:Mapk6	UTSW	9	75,395,548 (GRCm38)	missense	probably damaging	1.00
R7237:Mapk6	UTSW	9	75,397,613 (GRCm38)	missense	probably damaging	1.00
R9328:Mapk6	UTSW	9	75,397,970 (GRCm38)	missense	possibly damaging	0.70
R9775:Mapk6	UTSW	9	75,388,386 (GRCm38)	missense	possibly damaging	0.63
RF013:Mapk6	UTSW	9	75,388,260 (GRCm38)	frame shift	probably null
RF044:Mapk6	UTSW	9	75,388,260 (GRCm38)	frame shift	probably null
RF057:Mapk6	UTSW	9	75,388,258 (GRCm38)	frame shift	probably null
X0025:Mapk6	UTSW	9	75,395,508 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGAAACACAGGCTCCATGAATCCAG -3'
(R):5'- ACGGTCGCCTTAGAGAATCCCATC -3'

Sequencing Primer
(F):5'- TGCTCCTTTAAGAGCTAACAGC -3'
(R):5'- GGCATTTCTTTTCCAGGGTC -3'

Posted On

2014-05-09