Mutagenetix > Incidental Mutation

Incidental Mutation 'R1861:Mark2'

203973

Institutional Source

Beutler Lab

Gene Symbol

Mark2

Ensembl Gene

ENSMUSG00000024969

Gene Name

MAP/microtubule affinity regulating kinase 2

Synonyms

Par-1, Emk

MMRRC Submission

039884-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.913) question?

Stock #

R1861 (G1)

Quality Score

108

Status

Not validated

Chromosome

Chromosomal Location

7252761-7319222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7268128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 25 (D25G)

Ref Sequence

ENSEMBL: ENSMUSP00000129924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025921] [ENSMUST00000032557] [ENSMUST00000051711] [ENSMUST00000164205] [ENSMUST00000165286] [ENSMUST00000165965] [ENSMUST00000165989] [ENSMUST00000168872] [ENSMUST00000169541] [ENSMUST00000171393] [ENSMUST00000168324]

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
AA Change: D25G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000032557
Gene: ENSMUSG00000024969
AA Change: D25G

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
AA Change: D25G

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

SMART Domains

Protein: ENSMUSP00000108969
Gene: ENSMUSG00000024969
AA Change: D25G

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: ENSMUST00000164205
AA Change: D25G

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

SMART Domains

Protein: ENSMUSP00000127827
Gene: ENSMUSG00000024969
AA Change: D25G

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
AA Change: D25G

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

SMART Domains

Protein: ENSMUSP00000126468
Gene: ENSMUSG00000024969
AA Change: D25G

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: ENSMUST00000165965
AA Change: D25G

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

SMART Domains

Protein: ENSMUSP00000131684
Gene: ENSMUSG00000024969
AA Change: D25G

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

possibly damaging
Transcript: ENSMUST00000165989
AA Change: D25G

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129924
Gene: ENSMUSG00000024969
AA Change: D25G

Domain	Start	End	E-Value	Type
Pfam:Pkinase	53	89	1.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168872
AA Change: D25G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000128560
Gene: ENSMUSG00000024969
AA Change: D25G

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
AA Change: D25G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128779
Gene: ENSMUSG00000024969
AA Change: D25G

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

unknown
Transcript: ENSMUST00000171721
AA Change: D15G

SMART Domains

Protein: ENSMUSP00000129506
Gene: ENSMUSG00000024969
AA Change: D15G

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

noncoding transcript
Transcript: ENSMUST00000168852

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168324

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (117/121)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	C	A	9: 89,034,884 (GRCm39)		noncoding transcript	Het
Abra	C	A	15: 41,732,430 (GRCm39)	R212L	probably damaging	Het
Actr1a	T	C	19: 46,372,714 (GRCm39)	E87G	probably damaging	Het
Adam26a	A	G	8: 44,022,578 (GRCm39)	V304A	possibly damaging	Het
Alg2	T	A	4: 47,471,670 (GRCm39)	K379N	probably benign	Het
Alk	G	T	17: 72,181,933 (GRCm39)		probably benign	Het
Aopep	A	G	13: 63,163,597 (GRCm39)	Y206C	probably damaging	Het
Arhgef17	A	G	7: 100,531,475 (GRCm39)	Y331H	probably damaging	Het
Art3	A	G	5: 92,560,094 (GRCm39)		probably benign	Het
Asap1	G	A	15: 64,007,647 (GRCm39)		probably benign	Het
Atad2	A	T	15: 57,960,114 (GRCm39)		probably null	Het
Atp8b5	G	A	4: 43,372,906 (GRCm39)	R1150H	probably damaging	Het
Bltp2	C	T	11: 78,178,755 (GRCm39)		probably benign	Het
Brdt	T	C	5: 107,507,324 (GRCm39)	S575P	probably benign	Het
Capn3	T	A	2: 120,316,963 (GRCm39)		probably benign	Het
Casd1	T	A	6: 4,640,951 (GRCm39)	Y691N	probably damaging	Het
Ccdc127	T	G	13: 74,505,098 (GRCm39)	H215Q	possibly damaging	Het
Cenpe	T	C	3: 134,974,740 (GRCm39)	L2300P	probably damaging	Het
Clasp1	T	C	1: 118,498,661 (GRCm39)	F898L	possibly damaging	Het
Clcn1	C	A	6: 42,290,925 (GRCm39)	P933Q	possibly damaging	Het
Cntn3	T	A	6: 102,222,032 (GRCm39)	N489I	probably benign	Het
Col16a1	T	C	4: 129,955,517 (GRCm39)		probably benign	Het
Col24a1	G	A	3: 145,243,022 (GRCm39)		probably null	Het
Col8a2	C	T	4: 126,205,417 (GRCm39)		probably benign	Het
Cpd	T	C	11: 76,675,208 (GRCm39)		probably benign	Het
Csmd3	A	T	15: 47,522,588 (GRCm39)	C2694S	probably damaging	Het
Cyp2c40	T	C	19: 39,775,319 (GRCm39)	Y311C	probably benign	Het
Dennd5b	T	A	6: 148,969,760 (GRCm39)	N231I	probably damaging	Het
Dgkh	T	A	14: 78,816,232 (GRCm39)	H936L	probably benign	Het
Dmtf1	T	C	5: 9,170,347 (GRCm39)		probably null	Het
Dnai2	T	C	11: 114,643,777 (GRCm39)	V481A	possibly damaging	Het
Dnai3	T	C	3: 145,788,801 (GRCm39)	Y260C	probably damaging	Het
Dpyd	T	G	3: 118,710,780 (GRCm39)	V396G	probably damaging	Het
Elmo3	A	G	8: 106,035,213 (GRCm39)	D448G	probably damaging	Het
Emsy	A	T	7: 98,290,822 (GRCm39)	V100E	probably damaging	Het
Erbb2	T	C	11: 98,303,563 (GRCm39)		probably null	Het
Faah	T	C	4: 115,865,432 (GRCm39)	K85R	probably benign	Het
Fam149a	A	T	8: 45,792,399 (GRCm39)	Y686*	probably null	Het
Fat4	T	C	3: 39,064,633 (GRCm39)	V4863A	probably benign	Het
Fbxl8	A	G	8: 105,995,561 (GRCm39)	T358A	probably damaging	Het
Fcgbpl1	A	G	7: 27,854,157 (GRCm39)	Y1707C	probably damaging	Het
Fgfr3	A	G	5: 33,887,090 (GRCm39)	T165A	probably damaging	Het
Fnbp1l	A	T	3: 122,354,581 (GRCm39)	H180Q	probably damaging	Het
Gm8180	T	A	14: 44,021,196 (GRCm39)	H4L	probably benign	Het
Gon4l	T	C	3: 88,802,794 (GRCm39)	V1135A	probably damaging	Het
Gstcd	G	T	3: 132,688,868 (GRCm39)	N627K	probably damaging	Het
Gtf2a1l	G	A	17: 89,022,382 (GRCm39)	V458I	probably damaging	Het
Gtf3c3	T	C	1: 54,477,997 (GRCm39)	E26G	possibly damaging	Het
Hrct1	A	T	4: 43,727,404 (GRCm39)	T15S	probably benign	Het
Ift122	C	A	6: 115,868,889 (GRCm39)	R459S	probably damaging	Het
Irf1	T	A	11: 53,665,183 (GRCm39)	C187S	possibly damaging	Het
Kcnh7	A	G	2: 62,607,736 (GRCm39)	V615A	probably damaging	Het
Kif1c	T	C	11: 70,594,168 (GRCm39)	S61P	probably damaging	Het
Mamdc2	T	C	19: 23,336,517 (GRCm39)	T331A	probably damaging	Het
Me2	T	C	18: 73,918,785 (GRCm39)	D432G	probably benign	Het
Mfap3	T	C	11: 57,419,032 (GRCm39)	V64A	probably benign	Het
Nadk2	T	A	15: 9,108,399 (GRCm39)	M416K	probably benign	Het
Ndufs1	C	T	1: 63,186,576 (GRCm39)	G631D	probably benign	Het
Nomo1	G	A	7: 45,727,525 (GRCm39)	V1055I	probably benign	Het
Nuggc	T	A	14: 65,879,450 (GRCm39)		probably benign	Het
Nwd2	T	C	5: 63,962,197 (GRCm39)	S594P	probably damaging	Het
Or13c3	T	A	4: 52,856,373 (GRCm39)	I47L	probably benign	Het
Or4a27	T	G	2: 88,559,674 (GRCm39)	I90L	probably damaging	Het
Or4b1b	C	A	2: 90,112,502 (GRCm39)	C139F	probably damaging	Het
Or5b113	T	A	19: 13,342,705 (GRCm39)	S238T	possibly damaging	Het
Or6p1	T	C	1: 174,258,657 (GRCm39)	I221T	probably damaging	Het
Or8c10	C	T	9: 38,278,902 (GRCm39)	S10L	probably benign	Het
Pakap	A	G	4: 57,709,468 (GRCm39)	I138V	probably damaging	Het
Pcyt2	G	A	11: 120,501,968 (GRCm39)	P332S	probably benign	Het
Phaf1	A	G	8: 105,966,703 (GRCm39)	E150G	probably null	Het
Phf14	A	T	6: 11,987,610 (GRCm39)	M630L	probably benign	Het
Piezo1	T	C	8: 123,222,489 (GRCm39)	N919S	possibly damaging	Het
Pif1	A	T	9: 65,496,735 (GRCm39)	I283F	probably damaging	Het
Pknox2	G	A	9: 36,834,957 (GRCm39)	H171Y	probably damaging	Het
Pramel17	A	T	4: 101,694,135 (GRCm39)	D249E	probably benign	Het
Prkg2	T	A	5: 99,095,275 (GRCm39)	D632V	probably damaging	Het
Prr29	G	A	11: 106,266,264 (GRCm39)	A6T	probably damaging	Het
Rims1	T	A	1: 22,635,639 (GRCm39)	Y114F	probably damaging	Het
Ryr1	A	T	7: 28,708,977 (GRCm39)	D4796E	unknown	Het
Scnn1b	G	A	7: 121,513,484 (GRCm39)	C399Y	probably damaging	Het
Scp2	T	C	4: 107,948,518 (GRCm39)	Y153C	probably damaging	Het
Sema3d	A	G	5: 12,547,570 (GRCm39)	K164R	probably benign	Het
Siglecf	A	G	7: 43,001,648 (GRCm39)	T153A	probably benign	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Skint2	T	C	4: 112,504,315 (GRCm39)		probably benign	Het
Slc22a8	G	A	19: 8,583,503 (GRCm39)	R236H	probably damaging	Het
Slc25a40	T	A	5: 8,492,431 (GRCm39)		probably null	Het
Slc26a5	T	C	5: 22,021,956 (GRCm39)	D490G	possibly damaging	Het
Slc26a7	G	T	4: 14,522,873 (GRCm39)	D482E	probably benign	Het
Smarca2	A	T	19: 26,601,284 (GRCm39)	M77L	probably benign	Het
Sos2	A	G	12: 69,664,137 (GRCm39)	L449P	probably damaging	Het
Spaca1	A	G	4: 34,044,206 (GRCm39)	V96A	probably damaging	Het
Spata31d1b	T	A	13: 59,865,150 (GRCm39)	I766N	possibly damaging	Het
Specc1l	T	C	10: 75,145,693 (GRCm39)	Y1113H	probably damaging	Het
Speg	A	G	1: 75,365,649 (GRCm39)	R677G	probably damaging	Het
Taf5l	A	T	8: 124,724,729 (GRCm39)	D363E	probably damaging	Het
Tex56	A	T	13: 35,116,490 (GRCm39)	I80F	possibly damaging	Het
Tmem208	A	G	8: 106,061,438 (GRCm39)	K155E	possibly damaging	Het
Tppp2	A	C	14: 52,158,062 (GRCm39)	N169T	probably benign	Het
Trrap	T	A	5: 144,752,727 (GRCm39)		probably null	Het
Ttll6	T	A	11: 96,029,700 (GRCm39)	Y204*	probably null	Het
Ttn	A	T	2: 76,602,992 (GRCm39)	I18410K	probably benign	Het
V1rd19	T	A	7: 23,703,149 (GRCm39)	V205D	probably damaging	Het
Vdac3	A	T	8: 23,070,515 (GRCm39)	I132K	possibly damaging	Het
Vmn2r95	T	G	17: 18,672,530 (GRCm39)	C756G	probably damaging	Het
Zc3h15	A	G	2: 83,494,334 (GRCm39)	T421A	unknown	Het
Zc3hc1	T	C	6: 30,374,837 (GRCm39)	T235A	probably benign	Het
Zcchc14	A	G	8: 122,335,990 (GRCm39)		probably benign	Het
Zfp318	T	A	17: 46,722,366 (GRCm39)	N1456K	possibly damaging	Het
Zfp606	A	G	7: 12,214,858 (GRCm39)		probably benign	Het
Zfp811	T	A	17: 33,016,399 (GRCm39)	H546L	probably damaging	Het
Zfp94	A	T	7: 24,008,541 (GRCm39)	Y33N	probably damaging	Het
Zfyve9	G	T	4: 108,539,492 (GRCm39)		probably benign	Het

Other mutations in Mark2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Mark2	APN	19	7,318,549 (GRCm39)	missense	possibly damaging	0.53
IGL01522:Mark2	APN	19	7,258,603 (GRCm39)	missense	probably benign	0.06
IGL02368:Mark2	APN	19	7,261,855 (GRCm39)	missense	probably damaging	1.00
IGL02836:Mark2	APN	19	7,255,405 (GRCm39)	critical splice donor site	probably null
IGL03233:Mark2	APN	19	7,262,091 (GRCm39)	missense	possibly damaging	0.89
Unprintable	UTSW	19	7,263,267 (GRCm39)	missense	probably damaging	1.00
R0015:Mark2	UTSW	19	7,263,142 (GRCm39)	nonsense	probably null
R0025:Mark2	UTSW	19	7,263,287 (GRCm39)	missense	probably damaging	1.00
R0025:Mark2	UTSW	19	7,263,287 (GRCm39)	missense	probably damaging	1.00
R0035:Mark2	UTSW	19	7,262,017 (GRCm39)	splice site	probably benign
R0035:Mark2	UTSW	19	7,262,017 (GRCm39)	splice site	probably benign
R0047:Mark2	UTSW	19	7,260,942 (GRCm39)	splice site	probably benign
R0047:Mark2	UTSW	19	7,260,942 (GRCm39)	splice site	probably benign
R0335:Mark2	UTSW	19	7,259,193 (GRCm39)	missense	probably benign	0.27
R0627:Mark2	UTSW	19	7,259,325 (GRCm39)	critical splice acceptor site	probably null
R0734:Mark2	UTSW	19	7,263,346 (GRCm39)	splice site	probably benign
R0744:Mark2	UTSW	19	7,263,189 (GRCm39)	missense	probably damaging	1.00
R0836:Mark2	UTSW	19	7,263,189 (GRCm39)	missense	probably damaging	1.00
R1099:Mark2	UTSW	19	7,254,790 (GRCm39)	missense	probably benign	0.41
R1873:Mark2	UTSW	19	7,261,880 (GRCm39)	missense	probably damaging	1.00
R2160:Mark2	UTSW	19	7,260,112 (GRCm39)	missense	probably damaging	1.00
R2161:Mark2	UTSW	19	7,260,112 (GRCm39)	missense	probably damaging	1.00
R2162:Mark2	UTSW	19	7,260,112 (GRCm39)	missense	probably damaging	1.00
R2308:Mark2	UTSW	19	7,259,299 (GRCm39)	missense	probably damaging	1.00
R2844:Mark2	UTSW	19	7,264,227 (GRCm39)	missense	probably damaging	1.00
R2845:Mark2	UTSW	19	7,264,227 (GRCm39)	missense	probably damaging	1.00
R2846:Mark2	UTSW	19	7,264,227 (GRCm39)	missense	probably damaging	1.00
R2902:Mark2	UTSW	19	7,260,813 (GRCm39)	missense	probably benign	0.00
R2935:Mark2	UTSW	19	7,263,254 (GRCm39)	missense	probably benign	0.09
R3853:Mark2	UTSW	19	7,254,655 (GRCm39)	missense	probably damaging	1.00
R4377:Mark2	UTSW	19	7,268,054 (GRCm39)	missense	possibly damaging	0.66
R4522:Mark2	UTSW	19	7,263,313 (GRCm39)	missense	probably damaging	1.00
R4737:Mark2	UTSW	19	7,258,597 (GRCm39)	missense	probably damaging	0.96
R5103:Mark2	UTSW	19	7,261,868 (GRCm39)	missense	probably damaging	1.00
R5154:Mark2	UTSW	19	7,260,439 (GRCm39)	missense	probably damaging	0.99
R5579:Mark2	UTSW	19	7,260,181 (GRCm39)	missense	probably damaging	1.00
R6163:Mark2	UTSW	19	7,268,126 (GRCm39)	missense	probably benign	0.00
R6186:Mark2	UTSW	19	7,260,567 (GRCm39)	missense	probably benign	0.01
R6387:Mark2	UTSW	19	7,263,267 (GRCm39)	missense	probably damaging	1.00
R7032:Mark2	UTSW	19	7,264,698 (GRCm39)	missense	probably damaging	1.00
R7949:Mark2	UTSW	19	7,262,081 (GRCm39)	missense	probably benign	0.12
R8792:Mark2	UTSW	19	7,258,580 (GRCm39)	missense	probably benign	0.00
R8825:Mark2	UTSW	19	7,318,571 (GRCm39)	missense	probably benign	0.00
R8854:Mark2	UTSW	19	7,258,369 (GRCm39)	missense	probably benign	0.01
R9374:Mark2	UTSW	19	7,263,263 (GRCm39)	missense	possibly damaging	0.60
R9551:Mark2	UTSW	19	7,263,263 (GRCm39)	missense	possibly damaging	0.60
R9552:Mark2	UTSW	19	7,263,263 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- AACAGGCTAGGAGCTGCTAC -3'
(R):5'- AGTGAAAACTGGCTGTGATGC -3'

Sequencing Primer
(F):5'- TAGGAGCTGCTACCATGGC -3'
(R):5'- GCTGTGATGCCTTCCCTTC -3'

Posted On

2014-06-23