Incidental Mutation 'R7032:Mark2'
ID 546417
Institutional Source Beutler Lab
Gene Symbol Mark2
Ensembl Gene ENSMUSG00000024969
Gene Name MAP/microtubule affinity regulating kinase 2
Synonyms Par-1, Emk
MMRRC Submission 045133-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R7032 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 7252761-7319222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7264698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 112 (I112L)
Ref Sequence ENSEMBL: ENSMUSP00000131684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025921] [ENSMUST00000032557] [ENSMUST00000051711] [ENSMUST00000164129] [ENSMUST00000164205] [ENSMUST00000165286] [ENSMUST00000165965] [ENSMUST00000165989] [ENSMUST00000166461] [ENSMUST00000167767] [ENSMUST00000168324] [ENSMUST00000168872] [ENSMUST00000169541] [ENSMUST00000171352] [ENSMUST00000171393]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000025921
AA Change: I79L

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025921
Gene: ENSMUSG00000024969
AA Change: I79L

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: I112L

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032557
Gene: ENSMUSG00000024969
AA Change: I112L

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 damaging
Transcript: ENSMUST00000051711
AA Change: I112L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108969
Gene: ENSMUSG00000024969
AA Change: I112L

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: ENSMUST00000164129
Predicted Effect possibly damaging
Transcript: ENSMUST00000164205
AA Change: I112L

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127827
Gene: ENSMUSG00000024969
AA Change: I112L

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 damaging
Transcript: ENSMUST00000165286
AA Change: I112L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126468
Gene: ENSMUSG00000024969
AA Change: I112L

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: 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 damaging
Transcript: ENSMUST00000165965
AA Change: I112L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131684
Gene: ENSMUSG00000024969
AA Change: I112L

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: ENSMUST00000165989
SMART Domains Protein: ENSMUSP00000129924
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
Pfam:Pkinase 53 89 1.1e-6 PFAM
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: 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: ENSMUST00000168324
Predicted Effect possibly damaging
Transcript: ENSMUST00000168872
AA Change: I112L

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128560
Gene: ENSMUSG00000024969
AA Change: I112L

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: 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: ENSMUST00000171352
SMART Domains Protein: ENSMUSP00000129490
Gene: ENSMUSG00000024969

DomainStartEndE-ValueType
low complexity region 127 140 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000171393
AA Change: I79L

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129894
Gene: ENSMUSG00000024969
AA Change: I79L

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: I102L

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 0.5455 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (67/67)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,438 (GRCm39) D398E possibly damaging Het
Adam34 T C 8: 44,105,303 (GRCm39) Y114C probably damaging Het
Akap9 T A 5: 4,004,896 (GRCm39) D156E probably benign Het
Apba1 T A 19: 23,889,825 (GRCm39) S408T probably benign Het
Asb14 C T 14: 26,625,412 (GRCm39) H256Y probably benign Het
Atf6 A T 1: 170,627,181 (GRCm39) probably null Het
Atp6v1b2 T A 8: 69,541,548 (GRCm39) V35E probably benign Het
Atp8a2 T C 14: 60,255,289 (GRCm39) probably null Het
Ccdc170 C A 10: 4,432,597 (GRCm39) P12Q unknown Het
Cdh23 C T 10: 60,167,567 (GRCm39) E1810K probably damaging Het
Cdo1 A T 18: 46,853,475 (GRCm39) F94L probably damaging Het
Cfap96 T G 8: 46,409,474 (GRCm39) S282R probably damaging Het
Chdh C T 14: 29,758,809 (GRCm39) P585S possibly damaging Het
Clasp2 A G 9: 113,683,391 (GRCm39) N407S probably benign Het
Clca3a1 T A 3: 144,453,329 (GRCm39) S465C probably benign Het
Clip2 C A 5: 134,551,484 (GRCm39) V213L probably damaging Het
Col6a6 A G 9: 105,644,707 (GRCm39) S1194P probably damaging Het
Cyp7a1 T C 4: 6,268,463 (GRCm39) T421A possibly damaging Het
Dhh C T 15: 98,791,907 (GRCm39) G367E possibly damaging Het
Dnah5 A G 15: 28,326,796 (GRCm39) N2002D probably damaging Het
Epn2 T A 11: 61,437,528 (GRCm39) N15Y probably damaging Het
Evi5 A C 5: 107,936,147 (GRCm39) V647G probably benign Het
Eya1 T C 1: 14,353,424 (GRCm39) probably null Het
Fam120a A G 13: 49,102,589 (GRCm39) V222A probably benign Het
Fastkd5 A T 2: 130,457,864 (GRCm39) I242K possibly damaging Het
Hnrnpul1 A G 7: 25,450,319 (GRCm39) M131T probably benign Het
Ice1 T C 13: 70,744,283 (GRCm39) N2100S probably damaging Het
Ifi205 T A 1: 173,855,916 (GRCm39) D38V possibly damaging Het
Klhl9 G A 4: 88,639,843 (GRCm39) Q133* probably null Het
Krt84 T C 15: 101,436,924 (GRCm39) E370G probably benign Het
Lrrc4c T C 2: 97,459,410 (GRCm39) I12T probably benign Het
Lrriq4 T A 3: 30,709,850 (GRCm39) L398* probably null Het
Ltf G A 9: 110,855,198 (GRCm39) probably null Het
Macf1 C T 4: 123,366,101 (GRCm39) V1322I probably benign Het
Mettl25b A G 3: 87,831,649 (GRCm39) probably null Het
Mterf2 A T 10: 84,956,527 (GRCm39) C32* probably null Het
Myo3b C T 2: 69,925,608 (GRCm39) T25I probably damaging Het
Nsun7 A C 5: 66,421,378 (GRCm39) I115L probably benign Het
Olfm3 G A 3: 114,883,805 (GRCm39) V36M probably damaging Het
Or1p1c T C 11: 74,160,428 (GRCm39) I71T possibly damaging Het
Or5d44 T C 2: 88,141,373 (GRCm39) T256A probably benign Het
Or8b3 A T 9: 38,314,965 (GRCm39) Y262F possibly damaging Het
Or8g18 A T 9: 39,148,983 (GRCm39) S246T possibly damaging Het
Pcdhgb8 A T 18: 37,896,962 (GRCm39) R677S probably benign Het
Prrt4 A C 6: 29,170,538 (GRCm39) L638R possibly damaging Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rab44 T C 17: 29,359,438 (GRCm39) F542S unknown Het
Rhobtb3 T A 13: 76,020,513 (GRCm39) E596D probably benign Het
Rpl36 T C 17: 56,920,944 (GRCm39) I44T probably benign Het
Rptor A G 11: 119,737,762 (GRCm39) I112V probably benign Het
Rxfp2 T C 5: 149,993,813 (GRCm39) I611T probably damaging Het
Slc12a4 G T 8: 106,675,865 (GRCm39) N553K probably damaging Het
Spata31d1d T A 13: 59,876,046 (GRCm39) R496S probably benign Het
Strbp T C 2: 37,493,125 (GRCm39) D387G possibly damaging Het
Tas2r107 A T 6: 131,636,153 (GRCm39) C299S possibly damaging Het
Tbc1d21 A T 9: 58,274,134 (GRCm39) probably null Het
Tdrd12 A T 7: 35,180,471 (GRCm39) Y847* probably null Het
Tlr2 A T 3: 83,745,212 (GRCm39) N290K probably benign Het
Tmppe A G 9: 114,234,858 (GRCm39) T386A probably damaging Het
Tnks1bp1 C A 2: 84,892,297 (GRCm39) H741Q probably benign Het
Trpc6 G A 9: 8,609,951 (GRCm39) V140M probably damaging Het
Ttn T C 2: 76,641,932 (GRCm39) D13427G probably damaging Het
Uba7 C A 9: 107,853,371 (GRCm39) L106I possibly damaging Het
Unc5b T G 10: 60,614,587 (GRCm39) T237P probably damaging Het
Vit A C 17: 78,932,294 (GRCm39) D467A probably damaging Het
Vmn1r103 T C 7: 20,243,780 (GRCm39) Y227C possibly damaging Het
Vmn1r77 T A 7: 11,776,017 (GRCm39) Y196* probably null Het
Zhx3 A G 2: 160,622,898 (GRCm39) V423A 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
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
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'- GCAGCTCACAATGCCAAGATG -3'
(R):5'- CTCCATGGGTTTCAGCTTGG -3'

Sequencing Primer
(F):5'- TGCCAAGATGTAGCTCAACTGTG -3'
(R):5'- AGCTTGGTTTCTTTAAGAGGAAGATC -3'
Posted On 2019-05-13