Incidental Mutation 'R5103:Mark2'
ID 392523
Institutional Source Beutler Lab
Gene Symbol Mark2
Ensembl Gene ENSMUSG00000024969
Gene Name MAP/microtubule affinity regulating kinase 2
Synonyms Par-1, Emk
MMRRC Submission 042691-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R5103 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 7252761-7319222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7261868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 345 (M345V)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025921] [ENSMUST00000032557] [ENSMUST00000051711] [ENSMUST00000164129] [ENSMUST00000164205] [ENSMUST00000165286] [ENSMUST00000168872] [ENSMUST00000165965] [ENSMUST00000169541] [ENSMUST00000167767] [ENSMUST00000171352] [ENSMUST00000166461] [ENSMUST00000171393]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000025921
AA Change: M322V

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025921
Gene: ENSMUSG00000024969
AA Change: M322V

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 possibly damaging
Transcript: ENSMUST00000032557
AA Change: M355V

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032557
Gene: ENSMUSG00000024969
AA Change: M355V

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 possibly damaging
Transcript: ENSMUST00000051711
AA Change: M355V

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108969
Gene: ENSMUSG00000024969
AA Change: M355V

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 probably benign
Transcript: ENSMUST00000163345
SMART Domains Protein: ENSMUSP00000125944
Gene: ENSMUSG00000024969

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: M355V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127827
Gene: ENSMUSG00000024969
AA Change: M355V

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 possibly damaging
Transcript: ENSMUST00000165286
AA Change: M355V

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126468
Gene: ENSMUSG00000024969
AA Change: M355V

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 possibly damaging
Transcript: ENSMUST00000168872
AA Change: M355V

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128560
Gene: ENSMUSG00000024969
AA Change: M355V

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 possibly damaging
Transcript: ENSMUST00000165965
AA Change: M355V

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131684
Gene: ENSMUSG00000024969
AA Change: M355V

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 noncoding transcript
Transcript: ENSMUST00000170768
Predicted Effect probably damaging
Transcript: ENSMUST00000171721
AA Change: M345V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129506
Gene: ENSMUSG00000024969
AA Change: M345V

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: ENSMUST00000168852
Predicted Effect probably benign
Transcript: ENSMUST00000169541
SMART Domains Protein: ENSMUSP00000128779
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
Pfam:Pkinase 53 110 1.7e-12 PFAM
Pfam:Pkinase_Tyr 53 110 7.2e-8 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
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: ENSMUST00000165881
SMART Domains Protein: ENSMUSP00000126753
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
low complexity region 88 102 N/A INTRINSIC
low complexity region 145 158 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166461
SMART Domains Protein: ENSMUSP00000128549
Gene: ENSMUSG00000024969

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 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
Meta Mutation Damage Score 0.1531 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 99% (82/83)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,051,345 (GRCm39) R518H probably damaging Het
Agfg1 T C 1: 82,871,288 (GRCm39) S486P probably damaging Het
Arhgap18 A G 10: 26,745,978 (GRCm39) D283G probably damaging Het
Asb1 A G 1: 91,480,066 (GRCm39) N162S possibly damaging Het
Capn1 A G 19: 6,059,140 (GRCm39) Y274H probably damaging Het
Cdk5 A T 5: 24,627,833 (GRCm39) V30E probably damaging Het
Cep290 T G 10: 100,374,882 (GRCm39) L1376W probably damaging Het
Crybg1 T A 10: 43,873,944 (GRCm39) T1055S probably damaging Het
Cyp2c70 A G 19: 40,149,076 (GRCm39) Y357H probably damaging Het
Dlx6 AGG AG 6: 6,865,180 (GRCm39) probably null Het
Eml6 T A 11: 29,800,905 (GRCm39) E367V possibly damaging Het
Emp1 A G 6: 135,358,073 (GRCm39) T140A probably benign Het
Ergic3 T C 2: 155,850,545 (GRCm39) V74A probably benign Het
Fancm A T 12: 65,152,632 (GRCm39) L1029F probably damaging Het
Fank1 C A 7: 133,478,570 (GRCm39) C210* probably null Het
Fbxo31 T C 8: 122,279,101 (GRCm39) D462G probably damaging Het
Frem1 G A 4: 82,909,849 (GRCm39) A736V probably benign Het
Fshr T C 17: 89,404,796 (GRCm39) T56A possibly damaging Het
Gm5901 A T 7: 105,026,589 (GRCm39) probably null Het
Golga2 A G 2: 32,193,758 (GRCm39) E458G probably benign Het
Grik2 T A 10: 49,372,205 (GRCm39) I335F probably benign Het
Grin1 T A 2: 25,200,433 (GRCm39) M230L probably benign Het
Gtf2f1 C T 17: 57,311,519 (GRCm39) G297D probably damaging Het
H2-T5 T C 17: 36,472,577 (GRCm39) probably benign Het
Hacd1 T C 2: 14,045,724 (GRCm39) T136A probably damaging Het
Hdac5 T A 11: 102,087,109 (GRCm39) S24C probably damaging Het
Jtb T C 3: 90,139,394 (GRCm39) probably benign Het
Kif1a C T 1: 92,974,418 (GRCm39) G979E probably damaging Het
Mfsd14b A G 13: 65,234,907 (GRCm39) V90A possibly damaging Het
Micu1 T C 10: 59,624,806 (GRCm39) Y283H possibly damaging Het
Mmp2 C T 8: 93,558,413 (GRCm39) R161* probably null Het
Mrpl2 G A 17: 46,960,964 (GRCm39) R286Q probably benign Het
Msh5 T C 17: 35,248,215 (GRCm39) I783V possibly damaging Het
Myo3b T A 2: 69,926,747 (GRCm39) F65I probably benign Het
Nat10 C A 2: 103,587,605 (GRCm39) V37L probably damaging Het
Nlrp1a T A 11: 70,990,352 (GRCm39) T967S probably damaging Het
Nolc1 A T 19: 46,070,103 (GRCm39) K291* probably null Het
Or1j18 A T 2: 36,624,680 (GRCm39) T116S probably benign Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or8d2b G T 9: 38,788,872 (GRCm39) M133I probably damaging Het
Or8u8 C A 2: 86,011,960 (GRCm39) R165L probably benign Het
Paip1 A G 13: 119,574,515 (GRCm39) E70G possibly damaging Het
Palmd T A 3: 116,721,070 (GRCm39) E127V probably damaging Het
Paqr6 T A 3: 88,275,024 (GRCm39) C262* probably null Het
Pdcd11 A G 19: 47,112,893 (GRCm39) H1301R probably benign Het
Plce1 C A 19: 38,755,659 (GRCm39) D1896E probably damaging Het
Ppib A G 9: 65,968,747 (GRCm39) probably null Het
Pzp C T 6: 128,479,192 (GRCm39) V654M probably benign Het
Rab26 T C 17: 24,753,071 (GRCm39) probably benign Het
Recql4 A G 15: 76,590,956 (GRCm39) L468P probably damaging Het
Retreg1 C T 15: 25,968,540 (GRCm39) Q65* probably null Het
Rhpn1 C T 15: 75,586,064 (GRCm39) T659I possibly damaging Het
Rmc1 A G 18: 12,322,319 (GRCm39) I591V probably benign Het
Slc12a5 C A 2: 164,834,353 (GRCm39) H791Q probably damaging Het
Slc40a1 G A 1: 45,958,155 (GRCm39) Q93* probably null Het
Slc4a1 T C 11: 102,244,087 (GRCm39) M681V possibly damaging Het
Slc6a9 T A 4: 117,725,352 (GRCm39) F493L probably benign Het
Smc2 A G 4: 52,459,033 (GRCm39) E476G probably damaging Het
Smco4 G T 9: 15,456,090 (GRCm39) E59* probably null Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Stat4 T A 1: 52,111,054 (GRCm39) L167Q probably damaging Het
Sult1e1 C A 5: 87,724,091 (GRCm39) V289L probably benign Het
Tbc1d4 C A 14: 101,696,318 (GRCm39) E877* probably null Het
Tenm4 A T 7: 96,492,164 (GRCm39) I1033F probably damaging Het
Tppp2 T A 14: 52,156,909 (GRCm39) F95L probably benign Het
Trappc14 A G 5: 138,260,562 (GRCm39) V288A probably benign Het
Vmn2r41 G A 7: 8,141,341 (GRCm39) L708F probably benign Het
Washc5 G A 15: 59,222,018 (GRCm39) P126L probably damaging Het
Xkr4 T C 1: 3,740,911 (GRCm39) I221V probably benign Het
Xkr5 T C 8: 18,983,659 (GRCm39) R628G probably benign Het
Zfp207 T C 11: 80,282,736 (GRCm39) L233P probably damaging Het
Zfp827 T A 8: 79,797,032 (GRCm39) C373S 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
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
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'- CTCATCCACTGAGGGCCTTATC -3'
(R):5'- TGGAACCTCTCCCTGACTAC -3'

Sequencing Primer
(F):5'- ACTGAGGGCCTTATCCACCATG -3'
(R):5'- TGACTACAAGGACCCCCGG -3'
Posted On 2016-06-15