Mutagenetix > Incidental Mutation

Incidental Mutation 'R0047:Mark2'

33013

Institutional Source

Beutler Lab

Gene Symbol

Mark2

Ensembl Gene

ENSMUSG00000024969

Gene Name

MAP/microtubule affinity regulating kinase 2

Synonyms

Emk, Par-1

MMRRC Submission

038341-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R0047 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

7275396-7341860 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 7283577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025921] [ENSMUST00000032557] [ENSMUST00000051711] [ENSMUST00000164129] [ENSMUST00000164205] [ENSMUST00000165286] [ENSMUST00000165965] [ENSMUST00000166461] [ENSMUST00000167767] [ENSMUST00000168872] [ENSMUST00000169541] [ENSMUST00000171352] [ENSMUST00000171393]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025921

SMART Domains

Protein: ENSMUSP00000025921
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
S_TKc	20	271	1.59e-108	SMART
UBA	292	329	7.69e-7	SMART
low complexity region	475	489	N/A	INTRINSIC
low complexity region	532	545	N/A	INTRINSIC
Pfam:KA1	697	743	2.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000032557

SMART Domains

Protein: ENSMUSP00000032557
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
S_TKc	53	304	1.59e-108	SMART
UBA	325	362	7.69e-7	SMART
low complexity region	511	524	N/A	INTRINSIC
Pfam:KA1	685	731	5.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000051711

SMART Domains

Protein: ENSMUSP00000108969
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
S_TKc	53	304	1.59e-108	SMART
UBA	325	362	7.69e-7	SMART
low complexity region	508	522	N/A	INTRINSIC
low complexity region	565	578	N/A	INTRINSIC
Pfam:KA1	730	776	6.6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163345

SMART Domains

Protein: ENSMUSP00000125944
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	58	71	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164129

Predicted Effect

probably benign
Transcript: ENSMUST00000164205

SMART Domains

Protein: ENSMUSP00000127827
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
S_TKc	53	304	1.59e-108	SMART
UBA	325	362	7.69e-7	SMART
low complexity region	511	524	N/A	INTRINSIC
Pfam:KA1	676	722	5.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165286

SMART Domains

Protein: ENSMUSP00000126468
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
S_TKc	53	304	1.59e-108	SMART
UBA	325	362	7.69e-7	SMART
low complexity region	511	524	N/A	INTRINSIC
Pfam:KA1	670	716	6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165881

SMART Domains

Protein: ENSMUSP00000126753
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
low complexity region	88	102	N/A	INTRINSIC
low complexity region	145	158	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165965

SMART Domains

Protein: ENSMUSP00000131684
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
S_TKc	53	304	1.59e-108	SMART
UBA	325	362	7.69e-7	SMART
low complexity region	508	522	N/A	INTRINSIC
low complexity region	565	578	N/A	INTRINSIC
Pfam:KA1	732	776	7.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166461

SMART Domains

Protein: ENSMUSP00000128549
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
low complexity region	45	59	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
Pfam:KA1	261	307	1.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167767

SMART Domains

Protein: ENSMUSP00000132482
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
PDB:3OSE\|A	220	264	1e-18	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168852

Predicted Effect

probably benign
Transcript: ENSMUST00000168872

SMART Domains

Protein: ENSMUSP00000128560
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
S_TKc	53	304	1.59e-108	SMART
UBA	325	362	7.69e-7	SMART
low complexity region	511	524	N/A	INTRINSIC
Pfam:KA1	661	707	5.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169541

SMART Domains

Protein: ENSMUSP00000128779
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
Pfam:Pkinase	53	110	1.7e-12	PFAM
Pfam:Pkinase_Tyr	53	110	7.2e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170768

Predicted Effect

probably benign
Transcript: ENSMUST00000171721

SMART Domains

Protein: ENSMUSP00000129506
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
S_TKc	44	295	1.59e-108	SMART
UBA	316	353	7.69e-7	SMART
low complexity region	499	513	N/A	INTRINSIC
low complexity region	556	569	N/A	INTRINSIC
Pfam:KA1	732	776	7.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171352

SMART Domains

Protein: ENSMUSP00000129490
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
low complexity region	127	140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171393

SMART Domains

Protein: ENSMUSP00000129894
Gene: ENSMUSG00000024969

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	193	1.2e-59	PFAM
Pfam:Pkinase_Tyr	20	193	1.2e-35	PFAM
Pfam:RIO1	30	174	3e-7	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (98/98)

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 Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit proportionate dwarfism with smaller pituitaries and reduced growth hormone and prolactin secretion. Mutants develop autoimmunity and fail to breed when mated to each other. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,066,264	T405A	probably damaging	Het
4932438A13Rik	T	A	3: 36,908,192	L481M	possibly damaging	Het
Acer1	A	T	17: 56,955,624	D175E	possibly damaging	Het
Acsf2	T	C	11: 94,569,342	I395V	probably benign	Het
Adamts9	G	A	6: 92,905,306		probably benign	Het
Amigo3	T	C	9: 108,054,658	S427P	probably benign	Het
Ankrd35	A	G	3: 96,684,063	K555R	probably benign	Het
Arhgap35	A	T	7: 16,561,992	H1049Q	probably benign	Het
Arhgef5	G	A	6: 43,265,621		probably null	Het
Arid4a	T	G	12: 71,075,419	L858W	probably damaging	Het
Bbox1	A	G	2: 110,268,302	F310S	probably damaging	Het
Bhlhe22	T	C	3: 18,055,569	L261P	probably damaging	Het
Bmper	T	A	9: 23,406,686	C534S	probably damaging	Het
Cacna1d	T	G	14: 30,346,790		probably benign	Het
Camk2g	G	A	14: 20,771,068		probably benign	Het
Capn12	G	A	7: 28,890,387		probably null	Het
Cdkl4	T	G	17: 80,550,845	N115T	probably benign	Het
Chchd1	T	C	14: 20,704,163	S48P	possibly damaging	Het
Chia1	G	T	3: 106,115,257	C49F	probably damaging	Het
Cnot7	A	G	8: 40,495,921		probably benign	Het
Crh	T	C	3: 19,694,037	E147G	probably damaging	Het
Cux1	T	C	5: 136,363,253		probably benign	Het
Cyp2b19	T	A	7: 26,766,826	D351E	probably benign	Het
Dctn1	G	T	6: 83,182,632	G31*	probably null	Het
Duox1	T	A	2: 122,346,641		probably benign	Het
Egflam	T	G	15: 7,253,430	E382A	possibly damaging	Het
Ext1	T	C	15: 53,345,146	N73S	probably benign	Het
Ffar4	A	G	19: 38,114,004		probably benign	Het
Glg1	A	T	8: 111,165,582	M866K	probably damaging	Het
Golm1	T	A	13: 59,645,100	H197L	probably benign	Het
Gtse1	A	G	15: 85,862,378	K132E	probably damaging	Het
Gxylt2	A	T	6: 100,733,378		probably benign	Het
Hrc	T	A	7: 45,336,689	S421R	probably benign	Het
Ighg2c	T	A	12: 113,288,168		probably benign	Het
Ihh	A	G	1: 74,946,591	I245T	probably benign	Het
Ilf3	T	A	9: 21,388,714	M65K	possibly damaging	Het
Insr	A	G	8: 3,202,947	V404A	probably damaging	Het
Irak2	G	T	6: 113,672,953		probably benign	Het
Irak2	G	A	6: 113,678,738	V367I	probably benign	Het
Kat7	A	C	11: 95,300,208	N119K	probably benign	Het
Kif9	A	G	9: 110,485,038	I33V	probably benign	Het
Klf17	A	G	4: 117,761,032	Y43H	probably benign	Het
Kng2	T	A	16: 22,987,563	T629S	possibly damaging	Het
Lama1	A	T	17: 67,795,186		probably benign	Het
Lamb1	T	C	12: 31,278,601	I188T	possibly damaging	Het
Lpp	T	A	16: 24,661,800		probably benign	Het
Lrp12	T	C	15: 39,878,239	E360G	probably damaging	Het
Mmp3	T	C	9: 7,451,910		probably benign	Het
Mthfd1l	T	A	10: 3,978,727		probably benign	Het
Mtr	A	T	13: 12,222,226	S569T	probably damaging	Het
Myh13	T	A	11: 67,367,237	S1752T	probably benign	Het
Myo5a	T	A	9: 75,156,207	L565H	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Nfkb1	A	T	3: 135,595,053	L72*	probably null	Het
Numa1	A	G	7: 102,009,453	K296E	probably damaging	Het
Olfr1477	A	G	19: 13,502,589	E82G	probably benign	Het
Olfr186	T	A	16: 59,027,224	M228L	probably benign	Het
Olfr201	C	T	16: 59,269,211	G152D	probably damaging	Het
Olfr508	A	G	7: 108,630,552	I187V	probably benign	Het
Olfr613	A	T	7: 103,552,322	Y179F	probably damaging	Het
Pcdhb5	A	T	18: 37,321,268	I234F	possibly damaging	Het
Pgm5	T	A	19: 24,684,556	I545F	probably damaging	Het
Pla2g2c	T	C	4: 138,743,590		probably benign	Het
Pnpla7	A	T	2: 25,011,606	E548V	probably damaging	Het
Ppm1m	C	A	9: 106,196,696	E273*	probably null	Het
Ppp2r1b	C	T	9: 50,861,573	R117*	probably null	Het
Rabgap1l	G	A	1: 160,231,789		probably benign	Het
Rapgef6	T	A	11: 54,546,378	M49K	possibly damaging	Het
Rhox4f	A	C	X: 37,607,469	V15G	probably benign	Het
Rnf219	T	A	14: 104,503,344		probably null	Het
Rtel1	T	G	2: 181,323,405	I146M	probably damaging	Het
Sdr9c7	A	T	10: 127,903,672	M219L	probably benign	Het
Serpina3g	T	A	12: 104,240,284	S115T	possibly damaging	Het
Serpinb1a	A	T	13: 32,850,276	L44Q	probably damaging	Het
Slc13a4	A	G	6: 35,287,362	I190T	possibly damaging	Het
Slc46a2	A	G	4: 59,914,392	L177P	probably damaging	Het
Slc47a2	C	T	11: 61,336,242	V167M	possibly damaging	Het
Snrnp200	C	T	2: 127,234,954		probably benign	Het
Snx13	C	A	12: 35,101,124		probably benign	Het
Snx25	C	T	8: 46,041,365	A828T	probably damaging	Het
Spic	A	G	10: 88,675,941	L151P	probably damaging	Het
Ssu2	G	A	6: 112,374,820	H315Y	probably damaging	Het
Stk32a	T	C	18: 43,313,378		probably benign	Het
Tbx3	A	T	5: 119,680,446	E382V	probably damaging	Het
Tcaf2	A	G	6: 42,629,613	I469T	probably benign	Het
Tln2	A	G	9: 67,240,672		probably benign	Het
Top2a	T	A	11: 98,997,856	I1260L	probably benign	Het
Treml1	C	A	17: 48,364,980	S91*	probably null	Het
Trim26	T	C	17: 36,857,864		probably benign	Het
Trmt11	T	C	10: 30,535,243	N418S	probably benign	Het
Ttf1	A	G	2: 29,084,655	Y801C	probably damaging	Het
Usp34	C	T	11: 23,464,403	A2782V	probably benign	Het
Vmn2r77	T	C	7: 86,811,650	V728A	probably benign	Het
Vps4a	T	C	8: 107,036,701	L29P	probably damaging	Het
Wdfy3	A	G	5: 101,944,033	I480T	probably damaging	Het
Wdr41	A	G	13: 95,010,287	I197V	probably damaging	Het
Ywhag	A	T	5: 135,911,299	V147E	probably damaging	Het
Zan	A	G	5: 137,403,656	M4058T	unknown	Het
Zfp236	C	T	18: 82,680,692	C88Y	probably damaging	Het

Other mutations in Mark2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Mark2	APN	19	7341184	missense	possibly damaging	0.53
IGL01522:Mark2	APN	19	7281238	missense	probably benign	0.06
IGL02368:Mark2	APN	19	7284490	missense	probably damaging	1.00
IGL02836:Mark2	APN	19	7278040	critical splice donor site	probably null
IGL03233:Mark2	APN	19	7284726	missense	possibly damaging	0.89
Unprintable	UTSW	19	7285902	missense	probably damaging	1.00
R0015:Mark2	UTSW	19	7285777	nonsense	probably null
R0025:Mark2	UTSW	19	7285922	missense	probably damaging	1.00
R0025:Mark2	UTSW	19	7285922	missense	probably damaging	1.00
R0035:Mark2	UTSW	19	7284652	splice site	probably benign
R0035:Mark2	UTSW	19	7284652	splice site	probably benign
R0047:Mark2	UTSW	19	7283577	splice site	probably benign
R0335:Mark2	UTSW	19	7281828	missense	probably benign	0.27
R0627:Mark2	UTSW	19	7281960	critical splice acceptor site	probably null
R0734:Mark2	UTSW	19	7285981	splice site	probably benign
R0744:Mark2	UTSW	19	7285824	missense	probably damaging	1.00
R0836:Mark2	UTSW	19	7285824	missense	probably damaging	1.00
R1099:Mark2	UTSW	19	7277425	missense	probably benign	0.41
R1861:Mark2	UTSW	19	7290763	missense	possibly damaging	0.73
R1873:Mark2	UTSW	19	7284515	missense	probably damaging	1.00
R2160:Mark2	UTSW	19	7282747	missense	probably damaging	1.00
R2161:Mark2	UTSW	19	7282747	missense	probably damaging	1.00
R2162:Mark2	UTSW	19	7282747	missense	probably damaging	1.00
R2308:Mark2	UTSW	19	7281934	missense	probably damaging	1.00
R2844:Mark2	UTSW	19	7286862	missense	probably damaging	1.00
R2845:Mark2	UTSW	19	7286862	missense	probably damaging	1.00
R2846:Mark2	UTSW	19	7286862	missense	probably damaging	1.00
R2902:Mark2	UTSW	19	7283448	missense	probably benign	0.00
R2935:Mark2	UTSW	19	7285889	missense	probably benign	0.09
R3853:Mark2	UTSW	19	7277290	missense	probably damaging	1.00
R4377:Mark2	UTSW	19	7290689	missense	possibly damaging	0.66
R4522:Mark2	UTSW	19	7285948	missense	probably damaging	1.00
R4737:Mark2	UTSW	19	7281232	missense	probably damaging	0.96
R5103:Mark2	UTSW	19	7284503	missense	probably damaging	1.00
R5154:Mark2	UTSW	19	7283074	missense	probably damaging	0.99
R5579:Mark2	UTSW	19	7282816	missense	probably damaging	1.00
R6163:Mark2	UTSW	19	7290761	missense	probably benign	0.00
R6186:Mark2	UTSW	19	7283202	missense	probably benign	0.01
R6387:Mark2	UTSW	19	7285902	missense	probably damaging	1.00
R7032:Mark2	UTSW	19	7287333	missense	probably damaging	1.00
R7949:Mark2	UTSW	19	7284716	missense	probably benign	0.12
R8792:Mark2	UTSW	19	7281215	missense	probably benign	0.00
R8825:Mark2	UTSW	19	7341206	missense	probably benign	0.00
R8854:Mark2	UTSW	19	7281004	missense	probably benign	0.01
R9374:Mark2	UTSW	19	7285898	missense	possibly damaging	0.60
R9551:Mark2	UTSW	19	7285898	missense	possibly damaging	0.60
R9552:Mark2	UTSW	19	7285898	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- CCTGACTTGAGATTCCCAAGAGCAC -3'
(R):5'- GGCAGCGTCTCTCTTAGTTACCAC -3'

Sequencing Primer
(F):5'- ACATACCCTGGTCACTGGAG -3'
(R):5'- GGAAGGCATGAATTAGTCCTCTC -3'

Posted On

2013-05-09