Incidental Mutation 'R0335:Mark2'
ID 26237
Institutional Source Beutler Lab
Gene Symbol Mark2
Ensembl Gene ENSMUSG00000024969
Gene Name MAP/microtubule affinity regulating kinase 2
Synonyms Par-1, Emk
MMRRC Submission 038544-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R0335 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 7252761-7319222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 7259193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 83 (T83K)
Ref Sequence ENSEMBL: ENSMUSP00000128549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025921] [ENSMUST00000032557] [ENSMUST00000051711] [ENSMUST00000164129] [ENSMUST00000164205] [ENSMUST00000165286] [ENSMUST00000165965] [ENSMUST00000166461] [ENSMUST00000168872] [ENSMUST00000171352] [ENSMUST00000171393] [ENSMUST00000167767]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025921
AA Change: T513K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025921
Gene: ENSMUSG00000024969
AA Change: T513K

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
SMART Domains Protein: ENSMUSP00000032557
Gene: ENSMUSG00000024969

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: T546K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108969
Gene: ENSMUSG00000024969
AA Change: T546K

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 unknown
Transcript: ENSMUST00000163345
AA Change: T38K
SMART Domains Protein: ENSMUSP00000125944
Gene: ENSMUSG00000024969
AA Change: T38K

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 benign
Transcript: ENSMUST00000164205
SMART Domains Protein: ENSMUSP00000127827
Gene: ENSMUSG00000024969

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
SMART Domains Protein: ENSMUSP00000126468
Gene: ENSMUSG00000024969

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 probably benign
Transcript: ENSMUST00000165965
AA Change: T546K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131684
Gene: ENSMUSG00000024969
AA Change: T546K

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 probably benign
Transcript: ENSMUST00000166461
AA Change: T83K

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128549
Gene: ENSMUSG00000024969
AA Change: T83K

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 unknown
Transcript: ENSMUST00000165881
AA Change: T125K
SMART Domains Protein: ENSMUSP00000126753
Gene: ENSMUSG00000024969
AA Change: T125K

DomainStartEndE-ValueType
low complexity region 88 102 N/A INTRINSIC
low complexity region 145 158 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000171721
AA Change: T536K
SMART Domains Protein: ENSMUSP00000129506
Gene: ENSMUSG00000024969
AA Change: T536K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170768
Predicted Effect probably benign
Transcript: ENSMUST00000168872
SMART Domains Protein: ENSMUSP00000128560
Gene: ENSMUSG00000024969

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 benign
Transcript: ENSMUST00000171352
SMART Domains Protein: ENSMUSP00000129490
Gene: ENSMUSG00000024969

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 probably benign
Transcript: ENSMUST00000167767
SMART Domains Protein: ENSMUSP00000132482
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
low complexity region 53 66 N/A INTRINSIC
PDB:3OSE|A 220 264 1e-18 PDB
Meta Mutation Damage Score 0.0579 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.6%
  • 20x: 87.5%
Validation Efficiency 100% (89/89)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 G T 15: 11,311,144 (GRCm39) D1134Y possibly damaging Het
Add3 A G 19: 53,225,259 (GRCm39) T460A probably benign Het
Amer3 A C 1: 34,618,381 (GRCm39) probably benign Het
Arhgap22 C T 14: 33,081,065 (GRCm39) probably benign Het
Arhgap32 T G 9: 32,171,056 (GRCm39) S1279A probably benign Het
Bcas1 G A 2: 170,260,601 (GRCm39) T26M probably damaging Het
Begain A T 12: 109,004,860 (GRCm39) F256I probably damaging Het
Bltp1 T C 3: 37,023,301 (GRCm39) V2210A probably damaging Het
Cabin1 A T 10: 75,492,883 (GRCm39) I1804N probably damaging Het
Cad G A 5: 31,231,329 (GRCm39) probably benign Het
Carmil1 G A 13: 24,257,966 (GRCm39) S762L probably damaging Het
Ccdc93 T A 1: 121,420,706 (GRCm39) L529Q probably damaging Het
Cdh12 T A 15: 21,578,635 (GRCm39) probably null Het
Cep15 A G 14: 12,301,266 (GRCm38) E124G possibly damaging Het
Clip2 T A 5: 134,564,069 (GRCm39) probably benign Het
Cmip T C 8: 118,172,105 (GRCm39) I480T probably damaging Het
Cnot1 A T 8: 96,498,628 (GRCm39) I203K probably benign Het
Col18a1 G A 10: 76,895,197 (GRCm39) P1155S probably damaging Het
Col1a2 T A 6: 4,531,956 (GRCm39) probably benign Het
Crybg3 A T 16: 59,364,503 (GRCm39) L2373Q probably damaging Het
D130043K22Rik A T 13: 25,071,860 (GRCm39) I935F probably damaging Het
Dapl1 T A 2: 59,326,938 (GRCm39) D61E possibly damaging Het
Def6 A G 17: 28,447,043 (GRCm39) D558G possibly damaging Het
Dnah6 T C 6: 73,046,382 (GRCm39) probably benign Het
Dvl2 G A 11: 69,891,861 (GRCm39) probably benign Het
Ecd A C 14: 20,370,802 (GRCm39) V639G probably benign Het
Epg5 C T 18: 78,029,687 (GRCm39) T1350M probably benign Het
Erbb4 C A 1: 68,298,418 (GRCm39) M657I probably benign Het
Evi5 T C 5: 107,960,277 (GRCm39) R431G probably benign Het
Fbxo11 G A 17: 88,323,041 (GRCm39) A115V possibly damaging Het
Fgfr2 T C 7: 129,797,979 (GRCm39) T192A probably benign Het
Gas7 C T 11: 67,552,878 (GRCm39) A146V possibly damaging Het
Gatad2b T A 3: 90,263,489 (GRCm39) S529T probably benign Het
Gm10722 G T 9: 3,001,048 (GRCm39) Q41H probably null Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm7535 A G 17: 18,131,374 (GRCm39) probably benign Het
Gstm1 T A 3: 107,920,012 (GRCm39) N193I possibly damaging Het
Heatr5b G A 17: 79,135,375 (GRCm39) P252L probably benign Het
Hmgb1 A G 5: 148,987,441 (GRCm39) V36A probably benign Het
Hrh1 G T 6: 114,457,193 (GRCm39) W158L probably damaging Het
Ighv6-4 T C 12: 114,370,294 (GRCm39) M53V probably benign Het
Iqgap2 T A 13: 95,772,141 (GRCm39) D1346V probably damaging Het
Kcng3 A T 17: 83,895,166 (GRCm39) N433K possibly damaging Het
Kif1a T A 1: 92,980,288 (GRCm39) probably benign Het
Lctl C A 9: 64,026,169 (GRCm39) Q75K probably benign Het
Ldb3 T A 14: 34,300,608 (GRCm39) I89F possibly damaging Het
Lrrc49 A T 9: 60,584,378 (GRCm39) L156Q probably damaging Het
Ms4a15 A T 19: 10,957,574 (GRCm39) D170E probably damaging Het
Msantd2 A G 9: 37,434,056 (GRCm39) S99G possibly damaging Het
Nemf G T 12: 69,400,577 (GRCm39) T124N probably benign Het
Nlrp9c A T 7: 26,093,561 (GRCm39) F35I possibly damaging Het
Nwd2 A G 5: 63,962,116 (GRCm39) I567V probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or11l3 T C 11: 58,516,566 (GRCm39) Y102C probably damaging Het
Or13p8 A G 4: 118,584,367 (GRCm39) I308V probably null Het
Or5v1b A C 17: 37,841,533 (GRCm39) I222L probably benign Het
Or7g16 T A 9: 18,727,290 (GRCm39) Q100L probably damaging Het
Pdk4 T C 6: 5,491,138 (GRCm39) E209G probably benign Het
Plch1 T C 3: 63,618,399 (GRCm39) Q712R probably damaging Het
Pnpla1 T A 17: 29,105,852 (GRCm39) V569E possibly damaging Het
Prkar2a A T 9: 108,596,457 (GRCm39) D134V probably damaging Het
Ptov1 T A 7: 44,514,046 (GRCm39) Q40L possibly damaging Het
Ptprq T C 10: 107,544,589 (GRCm39) I314V probably benign Het
Rabl2 T C 15: 89,468,169 (GRCm39) K66E probably damaging Het
Rnf38 A G 4: 44,152,507 (GRCm39) V19A possibly damaging Het
Scn2a T A 2: 65,512,435 (GRCm39) W191R probably damaging Het
Sec22b T A 3: 97,828,572 (GRCm39) F212I possibly damaging Het
Sec24c T A 14: 20,738,783 (GRCm39) probably null Het
Septin2 T C 1: 93,423,321 (GRCm39) S51P probably damaging Het
Serpinb1a T C 13: 33,032,639 (GRCm39) N90S probably damaging Het
Slc1a2 C T 2: 102,574,208 (GRCm39) T206I probably benign Het
Slc25a19 C A 11: 115,515,032 (GRCm39) R42L probably damaging Het
St14 G A 9: 31,002,620 (GRCm39) probably benign Het
Stxbp1 C T 2: 32,692,917 (GRCm39) probably benign Het
Tas2r131 C T 6: 132,934,792 (GRCm39) V6I probably benign Het
Tdo2 T A 3: 81,871,307 (GRCm39) M235L probably benign Het
Tenm3 T G 8: 48,685,140 (GRCm39) H2432P probably damaging Het
Tmprss15 C T 16: 78,821,630 (GRCm39) probably benign Het
Tmx1 A G 12: 70,500,030 (GRCm39) N30D probably benign Het
Tom1 A G 8: 75,791,020 (GRCm39) probably null Het
Top2a T C 11: 98,913,781 (GRCm39) N20S probably benign Het
Ttc23l T A 15: 10,540,049 (GRCm39) T145S probably benign Het
Unc13b T A 4: 43,236,983 (GRCm39) M3351K possibly damaging Het
Vmn1r47 T C 6: 89,999,641 (GRCm39) S258P probably damaging Het
Vmn2r8 T G 5: 108,945,317 (GRCm39) probably null Het
Vps11 T C 9: 44,265,135 (GRCm39) Q641R probably null Het
Wapl T A 14: 34,414,281 (GRCm39) I381N probably damaging Het
Zmym6 G A 4: 127,016,601 (GRCm39) G794E probably 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
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
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'- AGCTTCAGGATAGCTTCCTGTACCC -3'
(R):5'- TCACGGAGCCCTCTACTTACAATGG -3'

Sequencing Primer
(F):5'- TACCCCTGCTGATGAGGACTG -3'
(R):5'- TGACCTGCATCTGCAAGG -3'
Posted On 2013-04-16