Incidental Mutation 'R8854:Mark2'
ID 675205
Institutional Source Beutler Lab
Gene Symbol Mark2
Ensembl Gene ENSMUSG00000024969
Gene Name MAP/microtubule affinity regulating kinase 2
Synonyms Par-1, Emk
MMRRC Submission 068676-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R8854 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 7252761-7319222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7258369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 640 (V640A)
Ref Sequence ENSEMBL: ENSMUSP00000108969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025921] [ENSMUST00000032557] [ENSMUST00000051711] [ENSMUST00000164129] [ENSMUST00000164205] [ENSMUST00000165286] [ENSMUST00000165965] [ENSMUST00000166461] [ENSMUST00000167767] [ENSMUST00000168872] [ENSMUST00000171352] [ENSMUST00000171393]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025921
AA Change: V607A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000025921
Gene: ENSMUSG00000024969
AA Change: V607A

DomainStartEndE-ValueType
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: V586A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000032557
Gene: ENSMUSG00000024969
AA Change: V586A

DomainStartEndE-ValueType
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: V640A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000108969
Gene: ENSMUSG00000024969
AA Change: V640A

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000125944
Gene: ENSMUSG00000024969
AA Change: V132A

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000164205
AA Change: V586A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127827
Gene: ENSMUSG00000024969
AA Change: V586A

DomainStartEndE-ValueType
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: V586A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126468
Gene: ENSMUSG00000024969
AA Change: V586A

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000126753
Gene: ENSMUSG00000024969
AA Change: V219A

DomainStartEndE-ValueType
low complexity region 88 102 N/A INTRINSIC
low complexity region 145 158 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165965
AA Change: V640A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000131684
Gene: ENSMUSG00000024969
AA Change: V640A

DomainStartEndE-ValueType
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: ENSMUST00000166461
AA Change: V177A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128549
Gene: ENSMUSG00000024969
AA Change: V177A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000167767
AA Change: V128A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132482
Gene: ENSMUSG00000024969
AA Change: V128A

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
PDB:3OSE|A 220 264 1e-18 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000168872
AA Change: V586A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000128560
Gene: ENSMUSG00000024969
AA Change: V586A

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000171352
AA Change: V202A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129490
Gene: ENSMUSG00000024969
AA Change: V202A

DomainStartEndE-ValueType
low complexity region 127 140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171393
SMART Domains Protein: ENSMUSP00000129894
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000129506
Gene: ENSMUSG00000024969
AA Change: V630A

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0711 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (64/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 G A 19: 20,588,297 (GRCm39) W29* probably null Het
Ankib1 C A 5: 3,777,489 (GRCm39) W467L probably null Het
Arhgef10 A G 8: 15,029,798 (GRCm39) probably null Het
Arpc1b C A 5: 145,060,405 (GRCm39) R66S probably benign Het
Atoh1 A T 6: 64,706,189 (GRCm39) probably benign Het
Bach2 T A 4: 32,575,263 (GRCm39) D619E possibly damaging Het
Bbs9 T C 9: 22,490,060 (GRCm39) I277T probably damaging Het
Cadps2 G A 6: 23,385,507 (GRCm39) P772S probably damaging Het
Cd1d1 T A 3: 86,905,480 (GRCm39) D171V probably damaging Het
Cfap20dc A T 14: 8,518,638 (GRCm38) S273T probably damaging Het
Clca3a2 C T 3: 144,783,852 (GRCm39) A588T possibly damaging Het
Cps1 A G 1: 67,200,048 (GRCm39) K399E probably damaging Het
Cpt1a T C 19: 3,406,327 (GRCm39) S98P probably benign Het
Cryzl2 A G 1: 157,286,370 (GRCm39) K36R possibly damaging Het
Cxcl13 T C 5: 96,104,861 (GRCm39) L11P unknown Het
Dbf4 T A 5: 8,458,562 (GRCm39) D151V probably damaging Het
Eogt A T 6: 97,108,359 (GRCm39) C227* probably null Het
Fermt3 T A 19: 6,991,310 (GRCm39) D231V probably damaging Het
Il2rb T C 15: 78,369,953 (GRCm39) T229A probably benign Het
Ildr1 T A 16: 36,535,910 (GRCm39) Y142N probably damaging Het
Kcnv2 A T 19: 27,311,258 (GRCm39) T542S probably benign Het
Kif26b G A 1: 178,743,948 (GRCm39) G1348E possibly damaging Het
Lancl1 C T 1: 67,073,358 (GRCm39) E42K possibly damaging Het
Lrp1 T A 10: 127,378,968 (GRCm39) D4010V probably damaging Het
Megf6 C T 4: 154,352,469 (GRCm39) T1276M probably damaging Het
Meioc T C 11: 102,566,589 (GRCm39) M735T probably damaging Het
Mfsd4b5 C A 10: 39,846,735 (GRCm39) V282L probably damaging Het
Mlx T A 11: 100,981,951 (GRCm39) V286E Het
Ms4a18 G A 19: 10,990,887 (GRCm39) T69I probably benign Het
Muc1 C T 3: 89,139,412 (GRCm39) P604L probably damaging Het
Net1 G T 13: 3,934,214 (GRCm39) D548E probably benign Het
Ngly1 T C 14: 16,281,769 (GRCm38) S342P probably damaging Het
Niban1 A G 1: 151,584,950 (GRCm39) K516E probably damaging Het
Nipbl A T 15: 8,330,210 (GRCm39) I2405N probably damaging Het
Nkx2-1 A T 12: 56,580,206 (GRCm39) C245S probably benign Het
Or52ab7 T C 7: 102,978,023 (GRCm39) I110T probably damaging Het
Or5p76 T A 7: 108,122,936 (GRCm39) I74L probably benign Het
Pcare T C 17: 72,056,326 (GRCm39) Y1117C probably benign Het
Pcdhgb5 C T 18: 37,865,501 (GRCm39) T432I probably benign Het
Plpp4 T A 7: 128,909,362 (GRCm39) L24* probably null Het
Pnma8a T C 7: 16,695,104 (GRCm39) S320P possibly damaging Het
Sass6 C A 3: 116,399,384 (GRCm39) Q93K possibly damaging Het
Sirpb1c T C 3: 15,887,308 (GRCm39) N177S possibly damaging Het
Slc22a30 A G 19: 8,363,754 (GRCm39) probably null Het
Snd1 A G 6: 28,526,968 (GRCm39) H217R probably benign Het
Spata31d1c C A 13: 65,183,804 (GRCm39) Q449K possibly damaging Het
Spidr A G 16: 15,707,630 (GRCm39) V889A probably damaging Het
Suclg2 A T 6: 95,572,650 (GRCm39) V105D probably damaging Het
Syne1 A T 10: 5,078,503 (GRCm39) M974K probably benign Het
Tbrg4 A T 11: 6,566,691 (GRCm39) D605E probably benign Het
Tcn2 A G 11: 3,876,074 (GRCm39) F118S possibly damaging Het
Tcstv2b T A 13: 120,377,825 (GRCm39) probably benign Het
Tfap4 T C 16: 4,367,238 (GRCm39) H208R probably benign Het
Trf A G 9: 103,107,529 (GRCm39) probably benign Het
Trpc4 A T 3: 54,102,122 (GRCm39) K7* probably null Het
Uap1 G T 1: 169,976,984 (GRCm39) P405Q probably damaging Het
Usp33 C A 3: 152,073,967 (GRCm39) T271N probably benign Het
Usp42 T C 5: 143,702,632 (GRCm39) D663G possibly damaging Het
Vmn2r10 T C 5: 109,144,126 (GRCm39) D608G probably benign Het
Wfdc16 G A 2: 164,480,486 (GRCm39) P3L probably benign Het
Zfp28 T C 7: 6,397,938 (GRCm39) I791T probably benign Het
Zfp970 A T 2: 177,165,088 (GRCm39) T5S probably damaging Het
Zfy1 A T Y: 726,501 (GRCm39) H421Q possibly damaging Het
Other mutations in Mark2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1861:Mark2 UTSW 19 7,268,128 (GRCm39) missense possibly damaging 0.73
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
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'- GAGTTCACACTCCCCTAGAGAG -3'
(R):5'- AACTAATTTCCCACGGGGTG -3'

Sequencing Primer
(F):5'- CTTGGGGCCATCGAATGAG -3'
(R):5'- TGTGTCCAGTCGAAGCAC -3'
Posted On 2021-07-15