Incidental Mutation 'R6230:Mast2'
ID 504613
Institutional Source Beutler Lab
Gene Symbol Mast2
Ensembl Gene ENSMUSG00000003810
Gene Name microtubule associated serine/threonine kinase 2
Synonyms MAST205, Mtssk
MMRRC Submission 044359-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6230 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 116163957-116321420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116183295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 258 (H258L)
Ref Sequence ENSEMBL: ENSMUSP00000003908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003908] [ENSMUST00000106484] [ENSMUST00000106485] [ENSMUST00000106486] [ENSMUST00000123072] [ENSMUST00000144281]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000003908
AA Change: H258L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: H258L

DomainStartEndE-ValueType
low complexity region 38 49 N/A INTRINSIC
low complexity region 56 63 N/A INTRINSIC
Pfam:DUF1908 141 416 1.8e-148 PFAM
S_TKc 452 725 2.96e-99 SMART
S_TK_X 726 786 1.08e-1 SMART
low complexity region 849 861 N/A INTRINSIC
low complexity region 1009 1028 N/A INTRINSIC
PDZ 1049 1129 2.23e-12 SMART
low complexity region 1142 1157 N/A INTRINSIC
low complexity region 1177 1210 N/A INTRINSIC
low complexity region 1224 1249 N/A INTRINSIC
low complexity region 1279 1302 N/A INTRINSIC
low complexity region 1345 1360 N/A INTRINSIC
low complexity region 1437 1452 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106484
AA Change: H265L

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: H265L

DomainStartEndE-ValueType
low complexity region 38 49 N/A INTRINSIC
low complexity region 56 63 N/A INTRINSIC
Pfam:DUF1908 141 423 1.3e-151 PFAM
S_TKc 459 732 2.96e-99 SMART
S_TK_X 733 793 1.08e-1 SMART
low complexity region 856 868 N/A INTRINSIC
low complexity region 1016 1035 N/A INTRINSIC
PDZ 1056 1136 2.23e-12 SMART
low complexity region 1149 1164 N/A INTRINSIC
low complexity region 1184 1217 N/A INTRINSIC
low complexity region 1233 1255 N/A INTRINSIC
low complexity region 1285 1308 N/A INTRINSIC
low complexity region 1351 1366 N/A INTRINSIC
low complexity region 1443 1458 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106485
AA Change: H319L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: H319L

DomainStartEndE-ValueType
low complexity region 7 26 N/A INTRINSIC
low complexity region 27 41 N/A INTRINSIC
low complexity region 99 110 N/A INTRINSIC
low complexity region 117 124 N/A INTRINSIC
Pfam:DUF1908 202 477 1.1e-148 PFAM
S_TKc 513 786 2.96e-99 SMART
S_TK_X 787 847 1.08e-1 SMART
low complexity region 910 922 N/A INTRINSIC
low complexity region 1070 1089 N/A INTRINSIC
PDZ 1110 1190 2.23e-12 SMART
low complexity region 1203 1218 N/A INTRINSIC
low complexity region 1238 1271 N/A INTRINSIC
low complexity region 1285 1310 N/A INTRINSIC
low complexity region 1340 1363 N/A INTRINSIC
low complexity region 1406 1421 N/A INTRINSIC
low complexity region 1498 1513 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106486
AA Change: H326L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: H326L

DomainStartEndE-ValueType
low complexity region 7 26 N/A INTRINSIC
low complexity region 27 41 N/A INTRINSIC
low complexity region 99 110 N/A INTRINSIC
low complexity region 117 124 N/A INTRINSIC
Pfam:DUF1908 202 483 2.9e-143 PFAM
S_TKc 520 793 2.96e-99 SMART
S_TK_X 794 854 1.08e-1 SMART
low complexity region 917 929 N/A INTRINSIC
low complexity region 1077 1096 N/A INTRINSIC
PDZ 1117 1197 2.23e-12 SMART
low complexity region 1210 1225 N/A INTRINSIC
low complexity region 1245 1278 N/A INTRINSIC
low complexity region 1294 1316 N/A INTRINSIC
low complexity region 1346 1369 N/A INTRINSIC
low complexity region 1412 1427 N/A INTRINSIC
low complexity region 1504 1519 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123072
AA Change: H182L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118340
Gene: ENSMUSG00000003810
AA Change: H182L

DomainStartEndE-ValueType
Pfam:DUF1908 58 203 2.9e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128252
Predicted Effect probably benign
Transcript: ENSMUST00000144281
SMART Domains Protein: ENSMUSP00000122625
Gene: ENSMUSG00000003810

DomainStartEndE-ValueType
Pfam:DUF1908 57 144 2.3e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147262
Meta Mutation Damage Score 0.4237 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.1%
Validation Efficiency 100% (49/49)
MGI Phenotype PHENOTYPE: No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp T C 2: 168,024,452 (GRCm39) T948A probably benign Het
Arhgef12 T C 9: 42,900,261 (GRCm39) I871V probably benign Het
Atf1 T C 15: 100,130,705 (GRCm39) V25A possibly damaging Het
Atp23 G A 10: 126,723,431 (GRCm39) H224Y probably benign Het
Ccpg1 A G 9: 72,919,638 (GRCm39) T418A probably benign Het
Col27a1 T C 4: 63,142,519 (GRCm39) I69T probably damaging Het
Cspp1 T C 1: 10,147,422 (GRCm39) S328P probably benign Het
Cttnbp2nl C T 3: 104,918,655 (GRCm39) E62K probably damaging Het
Cyp2c39 T C 19: 39,525,246 (GRCm39) F183S probably damaging Het
Dync2li1 T C 17: 84,955,078 (GRCm39) S246P probably damaging Het
Ext2 A G 2: 93,592,965 (GRCm39) I413T probably damaging Het
Fam174a T C 1: 95,241,951 (GRCm39) V137A probably damaging Het
Flg T A 3: 93,186,782 (GRCm39) V78E probably damaging Het
Fn3krp C A 11: 121,316,418 (GRCm39) H111N probably damaging Het
Focad T C 4: 88,260,441 (GRCm39) I899T unknown Het
Foxq1 T C 13: 31,743,491 (GRCm39) Y198H probably damaging Het
Gm21060 A T 19: 61,285,449 (GRCm39) M20K probably benign Het
Kif16b A T 2: 142,691,832 (GRCm39) N217K probably damaging Het
Klkb1 A G 8: 45,736,252 (GRCm39) Y162H probably benign Het
Kntc1 T A 5: 123,927,072 (GRCm39) probably null Het
Madd C T 2: 90,973,866 (GRCm39) probably null Het
Musk T C 4: 58,367,576 (GRCm39) V598A probably damaging Het
Nexn T A 3: 151,943,912 (GRCm39) Q539L probably damaging Het
Nf2 T C 11: 4,758,262 (GRCm39) K130E possibly damaging Het
Nlrp14 A T 7: 106,781,024 (GRCm39) I74F probably benign Het
Omg T C 11: 79,393,784 (GRCm39) I25V probably benign Het
Or56b35 A G 7: 104,963,289 (GRCm39) H26R possibly damaging Het
Or8b54 T G 9: 38,687,073 (GRCm39) I174S possibly damaging Het
Parp4 A G 14: 56,844,990 (GRCm39) D627G probably damaging Het
Pdia6 A G 12: 17,327,214 (GRCm39) E126G probably benign Het
Ppp1r2 T A 16: 31,079,418 (GRCm39) D127V possibly damaging Het
Pramel17 T A 4: 101,694,411 (GRCm39) E157D probably damaging Het
Rgs22 A G 15: 36,100,176 (GRCm39) S304P probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Ryr2 T C 13: 11,674,993 (GRCm39) Y3378C probably damaging Het
Shoc1 T C 4: 59,099,345 (GRCm39) N116D probably benign Het
Slitrk5 GACTAC GACTACTAC 14: 111,917,248 (GRCm39) probably benign Het
Smurf2 T C 11: 106,759,330 (GRCm39) probably null Het
Tanc1 T C 2: 59,672,375 (GRCm39) F1348L probably damaging Het
Tars3 A T 7: 65,336,184 (GRCm39) probably null Het
Tmem213 A T 6: 38,091,551 (GRCm39) S52C probably damaging Het
Ttn T C 2: 76,749,778 (GRCm39) D3757G probably benign Het
Usp16 C T 16: 87,261,686 (GRCm39) P101S possibly damaging Het
Usp19 G A 9: 108,379,140 (GRCm39) M1318I probably damaging Het
Vmn1r75 G A 7: 11,614,966 (GRCm39) A233T probably damaging Het
Vsir A T 10: 60,193,857 (GRCm39) N107Y probably damaging Het
Zfp160 T C 17: 21,246,707 (GRCm39) V419A probably benign Het
Zfp808 A T 13: 62,320,136 (GRCm39) H455L probably benign Het
Other mutations in Mast2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Mast2 APN 4 116,168,526 (GRCm39) missense probably benign 0.39
IGL00916:Mast2 APN 4 116,184,830 (GRCm39) missense possibly damaging 0.88
IGL02112:Mast2 APN 4 116,176,961 (GRCm39) missense probably damaging 1.00
R0645:Mast2 UTSW 4 116,170,043 (GRCm39) splice site probably benign
R0645:Mast2 UTSW 4 116,165,184 (GRCm39) missense probably damaging 1.00
R0883:Mast2 UTSW 4 116,168,964 (GRCm39) missense probably damaging 1.00
R1447:Mast2 UTSW 4 116,169,210 (GRCm39) missense probably benign 0.02
R1449:Mast2 UTSW 4 116,166,210 (GRCm39) missense probably damaging 1.00
R1473:Mast2 UTSW 4 116,169,152 (GRCm39) missense probably damaging 1.00
R1491:Mast2 UTSW 4 116,173,688 (GRCm39) missense possibly damaging 0.90
R1529:Mast2 UTSW 4 116,287,716 (GRCm39) missense probably benign 0.17
R1654:Mast2 UTSW 4 116,173,747 (GRCm39) critical splice acceptor site probably null
R1768:Mast2 UTSW 4 116,164,156 (GRCm39) missense probably damaging 1.00
R1807:Mast2 UTSW 4 116,167,938 (GRCm39) splice site probably benign
R1981:Mast2 UTSW 4 116,172,037 (GRCm39) missense probably damaging 1.00
R2081:Mast2 UTSW 4 116,187,671 (GRCm39) splice site probably null
R2157:Mast2 UTSW 4 116,179,480 (GRCm39) missense probably damaging 1.00
R3409:Mast2 UTSW 4 116,168,107 (GRCm39) missense possibly damaging 0.94
R3411:Mast2 UTSW 4 116,168,107 (GRCm39) missense possibly damaging 0.94
R3434:Mast2 UTSW 4 116,165,292 (GRCm39) missense probably benign 0.00
R3435:Mast2 UTSW 4 116,165,292 (GRCm39) missense probably benign 0.00
R3953:Mast2 UTSW 4 116,170,926 (GRCm39) missense probably damaging 1.00
R4056:Mast2 UTSW 4 116,194,698 (GRCm39) splice site probably benign
R4153:Mast2 UTSW 4 116,173,160 (GRCm39) missense possibly damaging 0.91
R4648:Mast2 UTSW 4 116,172,036 (GRCm39) nonsense probably null
R4671:Mast2 UTSW 4 116,165,847 (GRCm39) missense probably damaging 1.00
R4911:Mast2 UTSW 4 116,210,254 (GRCm39) missense probably benign 0.36
R4980:Mast2 UTSW 4 116,174,948 (GRCm39) missense probably damaging 1.00
R5322:Mast2 UTSW 4 116,190,608 (GRCm39) critical splice donor site probably null
R5462:Mast2 UTSW 4 116,164,655 (GRCm39) missense probably damaging 0.99
R5586:Mast2 UTSW 4 116,292,760 (GRCm39) missense probably damaging 0.99
R5750:Mast2 UTSW 4 116,166,086 (GRCm39) intron probably benign
R5771:Mast2 UTSW 4 116,190,622 (GRCm39) missense possibly damaging 0.60
R5885:Mast2 UTSW 4 116,172,035 (GRCm39) missense probably damaging 1.00
R6347:Mast2 UTSW 4 116,174,929 (GRCm39) missense probably damaging 1.00
R6527:Mast2 UTSW 4 116,172,136 (GRCm39) missense probably damaging 0.99
R6619:Mast2 UTSW 4 116,173,694 (GRCm39) nonsense probably null
R7070:Mast2 UTSW 4 116,168,052 (GRCm39) missense probably benign 0.03
R7303:Mast2 UTSW 4 116,165,508 (GRCm39) missense possibly damaging 0.63
R7822:Mast2 UTSW 4 116,170,070 (GRCm39) missense probably damaging 1.00
R7843:Mast2 UTSW 4 116,210,208 (GRCm39) missense probably damaging 0.98
R7918:Mast2 UTSW 4 116,292,732 (GRCm39) missense possibly damaging 0.50
R7939:Mast2 UTSW 4 116,287,668 (GRCm39) missense probably benign 0.09
R8052:Mast2 UTSW 4 116,170,172 (GRCm39) missense probably damaging 0.99
R8115:Mast2 UTSW 4 116,292,644 (GRCm39) missense probably benign 0.01
R8312:Mast2 UTSW 4 116,287,683 (GRCm39) missense probably benign
R8398:Mast2 UTSW 4 116,165,946 (GRCm39) missense probably damaging 1.00
R8477:Mast2 UTSW 4 116,164,407 (GRCm39) missense probably benign 0.43
R8759:Mast2 UTSW 4 116,292,757 (GRCm39) missense possibly damaging 0.80
R8832:Mast2 UTSW 4 116,168,875 (GRCm39) critical splice donor site probably null
R9245:Mast2 UTSW 4 116,167,701 (GRCm39) missense probably damaging 1.00
R9261:Mast2 UTSW 4 116,165,900 (GRCm39) missense probably damaging 1.00
R9530:Mast2 UTSW 4 116,169,535 (GRCm39) missense probably damaging 1.00
R9642:Mast2 UTSW 4 116,170,966 (GRCm39) missense probably damaging 0.99
R9709:Mast2 UTSW 4 116,173,044 (GRCm39) missense probably damaging 1.00
R9745:Mast2 UTSW 4 116,167,815 (GRCm39) missense probably benign 0.00
R9746:Mast2 UTSW 4 116,168,927 (GRCm39) missense probably benign 0.01
R9752:Mast2 UTSW 4 116,179,508 (GRCm39) missense probably benign 0.06
X0003:Mast2 UTSW 4 116,164,844 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGCTCTGCAAGTAAAGACCC -3'
(R):5'- GCCTGAAACTTTGCTTTCATGAATG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- TGCTTTCATGAATGTAGGAATATGTG -3'
Posted On 2018-02-28